ClinVar Miner

List of variants in gene COL2A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2512
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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.*305G>A rs532700241 0.00516
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.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_001844.5(COL2A1):c.709-20C>T rs535509546 0.00046
NM_001844.5(COL2A1):c.1266+19del rs41317917 0.00039
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496 0.00038
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.3003+20C>T rs571017845 0.00031
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.762+20C>A rs199807767 0.00026
NM_001844.5(COL2A1):c.528T>A (p.Gly176=) rs567132968 0.00025
NM_001844.5(COL2A1):c.1581+16G>A rs182598943 0.00024
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.1266+14G>A rs376892669 0.00019
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.1833+18C>G rs374668610 0.00018
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.960G>A (p.Pro320=) rs138806868 0.00014
NM_001844.5(COL2A1):c.135T>C (p.Asp45=) rs375778172 0.00013
NM_001844.5(COL2A1):c.158G>A (p.Arg53Gln) rs370821294 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.1353G>A (p.Pro451=) rs560149744 0.00012
NM_001844.5(COL2A1):c.147G>A (p.Pro49=) rs372734539 0.00012
NM_001844.5(COL2A1):c.2382T>A (p.Pro794=) rs373352689 0.00012
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) rs41272767 0.00012
NM_001844.5(COL2A1):c.526G>A (p.Gly176Ser) rs201003836 0.00012
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 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.3084G>T (p.Thr1028=) rs142786064 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.2464-19A>C rs200042189 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.3644G>C (p.Gly1215Ala) rs775874428 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.1056C>T (p.Pro352=) rs528554971 0.00008
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922 0.00008
NM_001844.5(COL2A1):c.2355+12C>T rs371211621 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.3165+14G>A rs371697518 0.00008
NM_001844.5(COL2A1):c.3598-14G>A rs375342062 0.00008
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
NM_001844.5(COL2A1):c.3990C>T (p.Asn1330=) rs373464470 0.00008
NM_001844.5(COL2A1):c.410G>A (p.Arg137His) rs201675352 0.00008
NM_001844.5(COL2A1):c.4422G>A (p.Glu1474=) rs369696920 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.4169C>T (p.Thr1390Ile) rs1161207534 0.00007
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met) rs371226850 0.00007
NM_001844.5(COL2A1):c.1224T>A (p.Gly408=) rs1236428120 0.00006
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) rs775754967 0.00006
NM_001844.5(COL2A1):c.1694G>A (p.Arg565His) rs372182200 0.00006
NM_001844.5(COL2A1):c.1738G>T (p.Ala580Ser) rs146604807 0.00006
NM_001844.5(COL2A1):c.2711G>A (p.Arg904His) rs201544025 0.00006
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=) rs150951022 0.00006
NM_001844.5(COL2A1):c.3435+18C>T rs375024988 0.00006
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_001844.5(COL2A1):c.4075-17G>A rs770056351 0.00006
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His) rs754487319 0.00006
NM_001844.5(COL2A1):c.816+7G>A rs761217687 0.00006
NM_001844.5(COL2A1):c.871-4C>G rs547809613 0.00006
NM_001844.5(COL2A1):c.1024-15C>T rs373141531 0.00005
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.2562C>T (p.Ala854=) rs368779265 0.00005
NM_001844.5(COL2A1):c.312A>G (p.Gly104=) rs139205058 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.4316C>T (p.Thr1439Met) rs121912886 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.531+10C>T rs753563783 0.00005
NM_001844.5(COL2A1):c.1017C>T (p.Gly339=) rs767949699 0.00004
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.1670C>T (p.Pro557Leu) rs866981761 0.00004
NM_001844.5(COL2A1):c.192C>T (p.Cys64=) rs121912897 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.2409+13T>A rs749230087 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.3064G>A (p.Val1022Met) rs199642249 0.00004
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=) rs376722458 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.3504C>T (p.Pro1168=) rs369451393 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.3588C>T (p.Thr1196=) rs1245257033 0.00004
NM_001844.5(COL2A1):c.3598-16_3598-15insGAT rs778309871 0.00004
NM_001844.5(COL2A1):c.3684G>A (p.Pro1228=) rs767791258 0.00004
NM_001844.5(COL2A1):c.3735C>T (p.Ala1245=) rs752469047 0.00004
NM_001844.5(COL2A1):c.376-18C>T rs779179434 0.00004
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His) rs763097721 0.00004
NM_001844.5(COL2A1):c.3980A>G (p.Asn1327Ser) rs1265043208 0.00004
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=) rs939449148 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.4247C>T (p.Ser1416Phe) rs557405437 0.00004
NM_001844.5(COL2A1):c.4317+8G>A rs373141723 0.00004
NM_001844.5(COL2A1):c.501C>T (p.Pro167=) rs768549401 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.1069-16C>T rs760355253 0.00003
NM_001844.5(COL2A1):c.1122+12G>T rs765750308 0.00003
NM_001844.5(COL2A1):c.1365G>A (p.Thr455=) rs1477075559 0.00003
NM_001844.5(COL2A1):c.1377T>C (p.Gly459=) rs898071484 0.00003
NM_001844.5(COL2A1):c.1400A>G (p.Gln467Arg) rs765413831 0.00003
NM_001844.5(COL2A1):c.1443C>A (p.Ala481=) rs765319566 0.00003
NM_001844.5(COL2A1):c.1497C>T (p.Gly499=) rs773764091 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.1929C>A (p.Pro643=) rs375813386 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.2302-3C>T rs895256869 0.00003
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile) rs368583168 0.00003
NM_001844.5(COL2A1):c.2409+9C>T rs370390239 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001844.5(COL2A1):c.2435C>T (p.Ala812Val) rs767149878 0.00003
NM_001844.5(COL2A1):c.2462C>T (p.Pro821Leu) rs201963052 0.00003
NM_001844.5(COL2A1):c.276C>T (p.Asp92=) rs748367231 0.00003
NM_001844.5(COL2A1):c.2781T>C (p.Gly927=) rs781135588 0.00003
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=) rs555904044 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val) rs374450416 0.00003
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) rs2276459 0.00003
NM_001844.5(COL2A1):c.3760G>A (p.Glu1254Lys) rs373684149 0.00003
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) rs748248022 0.00003
NM_001844.5(COL2A1):c.3970G>A (p.Val1324Ile) rs755207565 0.00003
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364 0.00003
NM_001844.5(COL2A1):c.4407C>T (p.Asp1469=) rs750477616 0.00003
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) rs1400762548 0.00003
NM_001844.5(COL2A1):c.506C>A (p.Pro169His) rs746108926 0.00003
NM_001844.5(COL2A1):c.564T>C (p.Asp188=) rs763401709 0.00003
NM_001844.5(COL2A1):c.579C>T (p.Gly193=) rs374674474 0.00003
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr) rs371445823 0.00003
NM_001844.5(COL2A1):c.708+14C>T rs769173275 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.871-6C>T rs1040791693 0.00003
NM_001844.5(COL2A1):c.942G>A (p.Pro314=) rs772688503 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.1122+19A>G rs760267333 0.00002
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) rs748511528 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.1523A>G (p.Glu508Gly) rs768225873 0.00002
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly) rs776744207 0.00002
NM_001844.5(COL2A1):c.1596G>T (p.Glu532Asp) rs774901867 0.00002
NM_001844.5(COL2A1):c.1623C>T (p.Pro541=) rs770713408 0.00002
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655 0.00002
NM_001844.5(COL2A1):c.1681-6A>G rs778019716 0.00002
NM_001844.5(COL2A1):c.1728C>T (p.Gly576=) rs1037598469 0.00002
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=) rs755517458 0.00002
NM_001844.5(COL2A1):c.1830C>T (p.Ala610=) rs151332549 0.00002
NM_001844.5(COL2A1):c.1832A>G (p.Asn611Ser) rs142492439 0.00002
NM_001844.5(COL2A1):c.1837G>A (p.Glu613Lys) rs765275917 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.2063A>G (p.Glu688Gly) rs750867405 0.00002
NM_001844.5(COL2A1):c.2095-5C>T rs775744875 0.00002
NM_001844.5(COL2A1):c.2126C>T (p.Ser709Phe) rs771198337 0.00002
NM_001844.5(COL2A1):c.2142C>T (p.Gly714=) rs758930823 0.00002
NM_001844.5(COL2A1):c.2280C>T (p.Ile760=) rs757108462 0.00002
NM_001844.5(COL2A1):c.237G>C (p.Glu79Asp) rs757029242 0.00002
NM_001844.5(COL2A1):c.2403C>T (p.Gly801=) rs145766709 0.00002
NM_001844.5(COL2A1):c.2433T>A (p.Pro811=) rs1441776862 0.00002
NM_001844.5(COL2A1):c.2463+5G>A rs747075073 0.00002
NM_001844.5(COL2A1):c.247G>A (p.Gly83Arg) rs762911032 0.00002
NM_001844.5(COL2A1):c.2498C>T (p.Ala833Val) rs1375464902 0.00002
NM_001844.5(COL2A1):c.2513C>A (p.Pro838His) rs912002483 0.00002
NM_001844.5(COL2A1):c.2586C>T (p.Ala862=) rs759022222 0.00002
NM_001844.5(COL2A1):c.2610A>G (p.Gly870=) rs551668075 0.00002
NM_001844.5(COL2A1):c.2622T>A (p.Pro874=) rs1456658006 0.00002
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile) rs759822181 0.00002
NM_001844.5(COL2A1):c.2727C>T (p.Gly909=) rs776780069 0.00002
NM_001844.5(COL2A1):c.2734-13T>A rs186360720 0.00002
NM_001844.5(COL2A1):c.2895+10T>C rs781045497 0.00002
NM_001844.5(COL2A1):c.310G>A (p.Gly104Arg) rs764210489 0.00002
NM_001844.5(COL2A1):c.3111+17C>T rs369067534 0.00002
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) rs780375782 0.00002
NM_001844.5(COL2A1):c.3327+17C>G rs779918971 0.00002
NM_001844.5(COL2A1):c.3582C>T (p.Gly1194=) rs566528045 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.3960C>T (p.Gly1320=) rs758384775 0.00002
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys) rs762357071 0.00002
NM_001844.5(COL2A1):c.4221C>G (p.Leu1407=) rs771307718 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.4290G>A (p.Thr1430=) rs554488169 0.00002
NM_001844.5(COL2A1):c.430-12C>T rs1019662074 0.00002
NM_001844.5(COL2A1):c.4318-17C>T rs570227994 0.00002
NM_001844.5(COL2A1):c.4358G>A (p.Arg1453Gln) rs770494878 0.00002
NM_001844.5(COL2A1):c.4431C>T (p.Phe1477=) rs746611653 0.00002
NM_001844.5(COL2A1):c.445C>T (p.Arg149Cys) rs144505311 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.530G>A (p.Gly177Glu) rs764690054 0.00002
NM_001844.5(COL2A1):c.709-9T>C rs374291498 0.00002
NM_001844.5(COL2A1):c.7C>G (p.Arg3Gly) rs898585011 0.00002
NM_001844.5(COL2A1):c.85+17_85+18insGCTG rs1417241544 0.00002
NM_001844.5(COL2A1):c.888C>T (p.Asp296=) rs776629744 0.00002
NM_001844.5(COL2A1):c.8G>T (p.Arg3Leu) rs372229776 0.00002
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu) rs200549186 0.00002
NM_001844.5(COL2A1):c.969+8T>G rs759230939 0.00002
NM_001844.5(COL2A1):c.96C>T (p.Gly32=) rs755499757 0.00002
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
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.1122+5G>A rs374697271 0.00001
NM_001844.5(COL2A1):c.1123-7T>C rs1939504396 0.00001
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His) rs1417502139 0.00001
NM_001844.5(COL2A1):c.114G>A (p.Gly38=) rs760370735 0.00001
NM_001844.5(COL2A1):c.1162G>A (p.Ala388Thr) rs755466728 0.00001
NM_001844.5(COL2A1):c.1221+12T>G rs763808202 0.00001
NM_001844.5(COL2A1):c.1221+7G>C rs1361537680 0.00001
NM_001844.5(COL2A1):c.123T>C (p.Tyr41=) rs1226870134 0.00001
NM_001844.5(COL2A1):c.1267-19C>A rs1351301710 0.00001
NM_001844.5(COL2A1):c.1279A>G (p.Ile427Val) rs1247674624 0.00001
NM_001844.5(COL2A1):c.1342C>T (p.Pro448Ser) rs923610032 0.00001
NM_001844.5(COL2A1):c.1365+12A>G rs1555167401 0.00001
NM_001844.5(COL2A1):c.1366-17C>T rs779931593 0.00001
NM_001844.5(COL2A1):c.1372C>T (p.Pro458Ser) rs764095772 0.00001
NM_001844.5(COL2A1):c.1407C>T (p.Pro469=) rs776808431 0.00001
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) rs755093756 0.00001
NM_001844.5(COL2A1):c.1464A>G (p.Glu488=) rs754092365 0.00001
NM_001844.5(COL2A1):c.1486G>C (p.Glu496Gln) rs1329803286 0.00001
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala) rs557340983 0.00001
NM_001844.5(COL2A1):c.1503G>A (p.Gly501=) rs1480731765 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_001844.5(COL2A1):c.1509C>T (p.Ile503=) rs148932318 0.00001
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser) rs945234297 0.00001
NM_001844.5(COL2A1):c.1528-16C>T rs1021930911 0.00001
NM_001844.5(COL2A1):c.1543C>T (p.Arg515Cys) rs886043589 0.00001
NM_001844.5(COL2A1):c.1544G>A (p.Arg515His) rs1326204674 0.00001
NM_001844.5(COL2A1):c.1581+20C>G rs1050269472 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.1678C>T (p.Arg560Trp) rs757693116 0.00001
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) rs1186241291 0.00001
NM_001844.5(COL2A1):c.1681-4A>T rs1939350440 0.00001
NM_001844.5(COL2A1):c.1734+3A>G rs1057521852 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1758T>C (p.Arg586=) rs1939318577 0.00001
NM_001844.5(COL2A1):c.1819C>T (p.Pro607Ser) rs763003390 0.00001
NM_001844.5(COL2A1):c.1833C>T (p.Asn611=) rs545120998 0.00001
NM_001844.5(COL2A1):c.1834-15C>G rs762913737 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.1887+17G>A rs780530020 0.00001
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858 0.00001
NM_001844.5(COL2A1):c.1941+18C>T rs753819738 0.00001
NM_001844.5(COL2A1):c.1941+2_1941+7dup rs1177422023 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.2058C>T (p.Pro686=) rs756536380 0.00001
NM_001844.5(COL2A1):c.2071G>A (p.Ala691Thr) rs1250885285 0.00001
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met) rs751036439 0.00001
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=) rs762603514 0.00001
NM_001844.5(COL2A1):c.2095-16G>A rs773011678 0.00001
NM_001844.5(COL2A1):c.2129C>T (p.Pro710Leu) rs747446924 0.00001
NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg) rs1252045461 0.00001
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) rs121912865 0.00001
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His) rs535980544 0.00001
NM_001844.5(COL2A1):c.2193+13G>A rs867065694 0.00001
NM_001844.5(COL2A1):c.2193+16T>C rs1158939914 0.00001
NM_001844.5(COL2A1):c.2193+6T>G rs1324792540 0.00001
NM_001844.5(COL2A1):c.2194-5C>T rs767435931 0.00001
NM_001844.5(COL2A1):c.2214C>G (p.Gly738=) rs202222691 0.00001
NM_001844.5(COL2A1):c.2219C>A (p.Pro740His) rs774819000 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.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2301+5G>A rs1335619157 0.00001
NM_001844.5(COL2A1):c.2302-12C>T rs1471459639 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 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.2356-4G>A rs767986491 0.00001
NM_001844.5(COL2A1):c.2404G>A (p.Glu802Lys) rs148985854 0.00001
NM_001844.5(COL2A1):c.2410-11C>T rs886049447 0.00001
NM_001844.5(COL2A1):c.2410-19C>A rs755457830 0.00001
NM_001844.5(COL2A1):c.2458G>A (p.Ala820Thr) rs371550944 0.00001
NM_001844.5(COL2A1):c.2517+19C>A rs780579572 0.00001
NM_001844.5(COL2A1):c.2518-13C>T rs950804089 0.00001
NM_001844.5(COL2A1):c.2518-8C>T rs1939006941 0.00001
NM_001844.5(COL2A1):c.2551C>G (p.Gln851Glu) rs776408221 0.00001
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser) rs770043048 0.00001
NM_001844.5(COL2A1):c.2625+13G>A rs757966388 0.00001
NM_001844.5(COL2A1):c.2626-15C>T rs1938962620 0.00001
NM_001844.5(COL2A1):c.2626-19C>T rs773731833 0.00001
NM_001844.5(COL2A1):c.2632A>G (p.Thr878Ala) rs147760401 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.2678C>T (p.Pro893Leu) rs1394353561 0.00001
NM_001844.5(COL2A1):c.2679+3G>A rs977658383 0.00001
NM_001844.5(COL2A1):c.2679+6T>C rs771289955 0.00001
NM_001844.5(COL2A1):c.2679+9G>T rs747506253 0.00001
NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala) rs1252498034 0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.279C>T (p.Leu93=) rs774746221 0.00001
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) rs948633441 0.00001
NM_001844.5(COL2A1):c.280G>A (p.Ala94Thr) rs768931460 0.00001
NM_001844.5(COL2A1):c.2812C>A (p.Pro938Thr) rs200772957 0.00001
NM_001844.5(COL2A1):c.281C>T (p.Ala94Val) rs1224104246 0.00001
NM_001844.5(COL2A1):c.2895T>C (p.Ser965=) rs368853371 0.00001
NM_001844.5(COL2A1):c.2896-3C>T rs764620334 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.2921A>G (p.Gln974Arg) rs776404713 0.00001
NM_001844.5(COL2A1):c.293-17T>C rs368198635 0.00001
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) rs566132150 0.00001
NM_001844.5(COL2A1):c.2944A>T (p.Ile982Phe) rs1239633408 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.2993C>T (p.Pro998Leu) rs757449808 0.00001
NM_001844.5(COL2A1):c.3002C>T (p.Ser1001Leu) rs765898571 0.00001
NM_001844.5(COL2A1):c.3003+10G>A rs1351714277 0.00001
NM_001844.5(COL2A1):c.3004-10G>C rs1938825498 0.00001
NM_001844.5(COL2A1):c.3026C>T (p.Ala1009Val) rs1315629927 0.00001
NM_001844.5(COL2A1):c.302G>T (p.Gly101Val) rs557218250 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.310-19T>G rs377452716 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.3111+9T>C rs918900950 0.00001
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu) rs978657987 0.00001
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) rs371635111 0.00001
NM_001844.5(COL2A1):c.3173G>A (p.Arg1058His) rs774603840 0.00001
NM_001844.5(COL2A1):c.3188C>T (p.Ala1063Val) rs978921089 0.00001
NM_001844.5(COL2A1):c.3207C>G (p.Ala1069=) rs777096609 0.00001
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu) rs1489240592 0.00001
NM_001844.5(COL2A1):c.3222C>G (p.Gly1074=) rs746453469 0.00001
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser) rs753709490 0.00001
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446 0.00001
NM_001844.5(COL2A1):c.326C>G (p.Pro109Arg) rs140120720 0.00001
NM_001844.5(COL2A1):c.3287C>T (p.Pro1096Leu) rs377708131 0.00001
NM_001844.5(COL2A1):c.3317G>A (p.Arg1106Gln) rs1453392906 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.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) rs776292672 0.00001
NM_001844.5(COL2A1):c.342+19C>T rs371439250 0.00001
NM_001844.5(COL2A1):c.3425C>A (p.Pro1142His) rs1466253134 0.00001
NM_001844.5(COL2A1):c.3435+19G>A rs41272759 0.00001
NM_001844.5(COL2A1):c.347T>C (p.Val116Ala) rs779950053 0.00001
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) rs374156023 0.00001
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) rs121912891 0.00001
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) rs779252535 0.00001
NM_001844.5(COL2A1):c.3598-5T>C rs1441411760 0.00001
NM_001844.5(COL2A1):c.3598-6C>G rs763340509 0.00001
NM_001844.5(COL2A1):c.3600T>G (p.Gly1200=) rs1284336050 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.3654C>T (p.Ile1218=) rs780783419 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.3688G>A (p.Glu1230Lys) rs1223523741 0.00001
NM_001844.5(COL2A1):c.3700G>A (p.Asp1234Asn) rs1345598613 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.375+10G>A rs766802524 0.00001
NM_001844.5(COL2A1):c.3757G>A (p.Ala1253Thr) rs551400443 0.00001
NM_001844.5(COL2A1):c.3759C>T (p.Ala1253=) rs761840345 0.00001
NM_001844.5(COL2A1):c.3792C>T (p.Asn1264=) rs1183855969 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.3873T>C (p.Pro1291=) rs1427175087 0.00001
NM_001844.5(COL2A1):c.3887-10C>T rs754208302 0.00001
NM_001844.5(COL2A1):c.3887-8C>T rs1216800127 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.4024A>G (p.Lys1342Glu) rs1480368696 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.4074+11G>A rs750833827 0.00001
NM_001844.5(COL2A1):c.4074+20A>G rs752166175 0.00001
NM_001844.5(COL2A1):c.4075-15T>C rs781604018 0.00001
NM_001844.5(COL2A1):c.4075-16C>T rs754586103 0.00001
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) rs202105427 0.00001
NM_001844.5(COL2A1):c.4102C>T (p.Pro1368Ser) rs775650170 0.00001
NM_001844.5(COL2A1):c.4115A>G (p.Asn1372Ser) rs771399441 0.00001
NM_001844.5(COL2A1):c.4119C>T (p.Val1373=) rs1037668981 0.00001
NM_001844.5(COL2A1):c.415G>A (p.Asp139Asn) rs1402865784 0.00001
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=) rs1284508374 0.00001
NM_001844.5(COL2A1):c.4203C>T (p.Asp1401=) rs200781896 0.00001
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys) rs759583931 0.00001
NM_001844.5(COL2A1):c.4231C>T (p.Leu1411=) rs141906099 0.00001
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=) rs748658390 0.00001
NM_001844.5(COL2A1):c.4256T>C (p.Val1419Ala) rs1308668773 0.00001
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377 0.00001
NM_001844.5(COL2A1):c.4274G>C (p.Gly1425Ala) rs989110731 0.00001
NM_001844.5(COL2A1):c.430-19T>C rs575645356 0.00001
NM_001844.5(COL2A1):c.4318-16_4318-14del rs1416980198 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001844.5(COL2A1):c.4328G>A (p.Gly1443Asp) rs1938540779 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.4357C>T (p.Arg1453Trp) rs776306214 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.4388T>C (p.Ile1463Thr) rs748077700 0.00001
NM_001844.5(COL2A1):c.4414G>T (p.Gly1472Trp) rs763352763 0.00001
NM_001844.5(COL2A1):c.4438G>A (p.Asp1480Asn) rs772969125 0.00001
NM_001844.5(COL2A1):c.489C>T (p.Pro163=) rs760638362 0.00001
NM_001844.5(COL2A1):c.48C>T (p.Leu16=) rs944161670 0.00001
NM_001844.5(COL2A1):c.518C>G (p.Pro173Arg) rs528081130 0.00001
NM_001844.5(COL2A1):c.531+16T>C rs1940019842 0.00001
NM_001844.5(COL2A1):c.538G>A (p.Ala180Thr) rs1592234056 0.00001
NM_001844.5(COL2A1):c.547A>G (p.Met183Val) rs1939974978 0.00001
NM_001844.5(COL2A1):c.591A>T (p.Gly197=) rs747274874 0.00001
NM_001844.5(COL2A1):c.709-4del rs745987220 0.00001
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) rs764487245 0.00001
NM_001844.5(COL2A1):c.725G>A (p.Arg242His) rs1023703904 0.00001
NM_001844.5(COL2A1):c.733C>A (p.Pro245Thr) rs1333696091 0.00001
NM_001844.5(COL2A1):c.738T>C (p.Gly246=) rs1270950562 0.00001
NM_001844.5(COL2A1):c.75C>G (p.Gly25=) rs1253191190 0.00001
NM_001844.5(COL2A1):c.760G>T (p.Asp254Tyr) rs1012776131 0.00001
NM_001844.5(COL2A1):c.763-20A>C rs549970833 0.00001
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) rs1470645150 0.00001
NM_001844.5(COL2A1):c.787G>A (p.Ala263Thr) rs1939852622 0.00001
NM_001844.5(COL2A1):c.816+12C>T rs1438234538 0.00001
NM_001844.5(COL2A1):c.817-10T>C rs1171515555 0.00001
NM_001844.5(COL2A1):c.85+17C>T rs1266788333 0.00001
NM_001844.5(COL2A1):c.871-12C>T rs1939823565 0.00001
NM_001844.5(COL2A1):c.871-13T>C rs1939823669 0.00001
NM_001844.5(COL2A1):c.871-5C>T rs369642814 0.00001
NM_001844.5(COL2A1):c.876T>C (p.Tyr292=) rs1232570426 0.00001
NM_001844.5(COL2A1):c.906G>A (p.Ala302=) rs760573262 0.00001
NM_001844.5(COL2A1):c.948G>A (p.Glu316=) rs1345906701 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.970-13G>T rs1389856644 0.00001
NM_001844.5(COL2A1):c.970-19G>A rs1020671021 0.00001
NC_000012.11:g.(?_48368049)_(48371518_?)del
NC_000012.11:g.(?_48380099)_(48380246_?)dup
NC_000012.11:g.(?_48390321)_(48391857_?)del
NC_000012.12:g.47975606del
NC_000012.12:g.47975611_47976075del
NC_000012.12:g.47976568del rs2136516920
NC_000012.12:g.47980951_47980969del
NC_000012.12:g.47982160_47982161del
NC_000012.12:g.47982594_47982612del
NC_000012.12:g.47983439del rs2136555161
NC_000012.12:g.47986889del
NC_000012.12:g.47987176_47987177del
NC_000012.12:g.47998432del
NM_001844.4(COL2A1):c.2465delG (p.Gly822Valfs) rs886044292
NM_001844.4(COL2A1):c.431del rs1940028721
NM_001844.5(COL2A1):c.-5G>A
NM_001844.5(COL2A1):c.1002G>A (p.Arg334=) rs2136604822
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) rs755043901
NM_001844.5(COL2A1):c.1004C>T (p.Thr335Ile)
NM_001844.5(COL2A1):c.1007G>A (p.Gly336Asp) rs2136604776
NM_001844.5(COL2A1):c.1009C>T (p.Pro337Ser) rs766485093
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
NM_001844.5(COL2A1):c.1012G>C (p.Ala338Pro)
NM_001844.5(COL2A1):c.1015G>A (p.Gly339Ser) rs2136604691
NM_001844.5(COL2A1):c.1016G>A (p.Gly339Asp) rs2136604676
NM_001844.5(COL2A1):c.1023+10T>G rs1939770057
NM_001844.5(COL2A1):c.1023+19C>T rs2136604523
NM_001844.5(COL2A1):c.1023+1G>A rs886043794
NM_001844.5(COL2A1):c.1023+3_1023+6del
NM_001844.5(COL2A1):c.1023+4A>G rs1939770285
NM_001844.5(COL2A1):c.1023+7A>C
NM_001844.5(COL2A1):c.1024-1G>A
NM_001844.5(COL2A1):c.1024-202del rs35920899
NM_001844.5(COL2A1):c.1024-20C>T
NM_001844.5(COL2A1):c.1024-264G>A rs558418931
NM_001844.5(COL2A1):c.1024-2A>G rs2136590607
NM_001844.5(COL2A1):c.1024-3C>T
NM_001844.5(COL2A1):c.1024-5C>T
NM_001844.5(COL2A1):c.1025G>T (p.Gly342Val)
NM_001844.5(COL2A1):c.1029C>G (p.Ala343=)
NM_001844.5(COL2A1):c.1029C>T (p.Ala343=)
NM_001844.5(COL2A1):c.102T>A (p.Cys34Ter)
NM_001844.5(COL2A1):c.102T>G (p.Cys34Trp) rs2136637552
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.1034G>A (p.Gly345Asp) rs1939617011
NM_001844.5(COL2A1):c.1034G>T (p.Gly345Val)
NM_001844.5(COL2A1):c.1038C>T (p.Asn346=) rs1239066133
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys) rs2136590405
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp) rs2136590361
NM_001844.5(COL2A1):c.1043G>T (p.Gly348Val)
NM_001844.5(COL2A1):c.1043del (p.Gly348fs) rs2136590384
NM_001844.5(COL2A1):c.1045C>G (p.Gln349Glu)
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.1052del (p.Gly351fs) rs398123628
NM_001844.5(COL2A1):c.1053C>A (p.Gly351=)
NM_001844.5(COL2A1):c.1053C>G (p.Gly351=)
NM_001844.5(COL2A1):c.1053C>T (p.Gly351=)
NM_001844.5(COL2A1):c.1056del (p.Ala353fs) rs794727185
NM_001844.5(COL2A1):c.1057G>T (p.Ala353Ser) rs781554389
NM_001844.5(COL2A1):c.105G>A (p.Val35=)
NM_001844.5(COL2A1):c.105G>C (p.Val35=)
NM_001844.5(COL2A1):c.1062G>A (p.Gly354=)
NM_001844.5(COL2A1):c.1068+10T>C
NM_001844.5(COL2A1):c.1068+5G>A rs1171878681
NM_001844.5(COL2A1):c.1068_1068+2dup
NM_001844.5(COL2A1):c.1069-10C>T
NM_001844.5(COL2A1):c.1069-15G>A
NM_001844.5(COL2A1):c.1069-16C>A
NM_001844.5(COL2A1):c.1069-16C>G
NM_001844.5(COL2A1):c.1069-27_1069-12dup
NM_001844.5(COL2A1):c.1069-2A>G
NM_001844.5(COL2A1):c.1069-4C>T
NM_001844.5(COL2A1):c.1071del (p.Pro358fs) rs886043797
NM_001844.5(COL2A1):c.1074T>C (p.Pro358=)
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser)
NM_001844.5(COL2A1):c.1095T>G (p.Pro365=)
NM_001844.5(COL2A1):c.1100del (p.Phe367fs) rs2136587619
NM_001844.5(COL2A1):c.1101C>T (p.Phe367=)
NM_001844.5(COL2A1):c.1102C>A (p.Pro368Thr)
NM_001844.5(COL2A1):c.1103C>A (p.Pro368His) rs1219147595
NM_001844.5(COL2A1):c.1103C>T (p.Pro368Leu)
NM_001844.5(COL2A1):c.1104_1105del (p.Gly369fs) rs2136587563
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) rs1085307657
NM_001844.5(COL2A1):c.1106G>A (p.Gly369Asp)
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) rs794727202
NM_001844.5(COL2A1):c.1117G>T (p.Ala373Ser)
NM_001844.5(COL2A1):c.1117_1118del (p.Ala373fs)
NM_001844.5(COL2A1):c.1119_1122+16delinsACCCTGTTGC rs1555167770
NM_001844.5(COL2A1):c.1122+15G>T rs373544158
NM_001844.5(COL2A1):c.1122+2T>A rs1939584878
NM_001844.5(COL2A1):c.1123-1G>A rs1565684864
NM_001844.5(COL2A1):c.1123-1G>C rs1565684864
NM_001844.5(COL2A1):c.1123-20T>C
NM_001844.5(COL2A1):c.1123-264C>G rs10875715
NM_001844.5(COL2A1):c.1123-2A>G
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser) rs1045330263
NM_001844.5(COL2A1):c.1131C>T (p.Ala377=)
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) rs2136579628
NM_001844.5(COL2A1):c.1132G>C (p.Gly378Arg) rs2136579628
NM_001844.5(COL2A1):c.1132_1135dup (p.Pro379fs)
NM_001844.5(COL2A1):c.1135C>T (p.Pro379Ser)
NM_001844.5(COL2A1):c.113G>A (p.Gly38Glu)
NM_001844.5(COL2A1):c.1142G>A (p.Gly381Asp) rs1323542030
NM_001844.5(COL2A1):c.1142G>C (p.Gly381Ala) rs1323542030
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.1169G>T (p.Gly390Val) rs2136579397
NM_001844.5(COL2A1):c.1174C>T (p.Arg392Cys)
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1180G>A (p.Glu394Lys) rs2136579298
NM_001844.5(COL2A1):c.1181A>T (p.Glu394Val)
NM_001844.5(COL2A1):c.1182_1189dup (p.Thr397fs)
NM_001844.5(COL2A1):c.1183C>A (p.Pro395Thr)
NM_001844.5(COL2A1):c.1188T>A (p.Gly396=)
NM_001844.5(COL2A1):c.1189A>G (p.Thr397Ala) rs2136579217
NM_001844.5(COL2A1):c.1189del (p.Thr397fs)
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg) rs2136579152
NM_001844.5(COL2A1):c.119G>A (p.Arg40Lys) rs2136637469
NM_001844.5(COL2A1):c.11T>C (p.Leu4Pro) rs1335702587
NM_001844.5(COL2A1):c.1204G>T (p.Gly402Trp) rs2136579085
NM_001844.5(COL2A1):c.1214G>A (p.Gly405Asp) rs2136579057
NM_001844.5(COL2A1):c.1214del (p.Gly405fs) rs794727225
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.1221+5G>C rs1939497156
NM_001844.5(COL2A1):c.1221C>G (p.Ser407=)
NM_001844.5(COL2A1):c.1222-10C>A
NM_001844.5(COL2A1):c.1222-10C>G
NM_001844.5(COL2A1):c.1222-15T>C rs1467346263
NM_001844.5(COL2A1):c.1222-15T>G
NM_001844.5(COL2A1):c.1222-2A>G rs2136577259
NM_001844.5(COL2A1):c.1222-9C>T rs2136577292
NM_001844.5(COL2A1):c.1226A>G (p.Asn409Ser)
NM_001844.5(COL2A1):c.1227C>T (p.Asn409=)
NM_001844.5(COL2A1):c.1230T>G (p.Pro410=) rs2136577190
NM_001844.5(COL2A1):c.1231G>A (p.Gly411Arg) rs2136577175
NM_001844.5(COL2A1):c.1231G>T (p.Gly411Ter)
NM_001844.5(COL2A1):c.123T>A (p.Tyr41Ter)
NM_001844.5(COL2A1):c.1241G>T (p.Gly414Val) rs2136577123
NM_001844.5(COL2A1):c.1250G>A (p.Gly417Glu)
NM_001844.5(COL2A1):c.1253C>A (p.Ala418Asp) rs2136577068
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg) rs867799325
NM_001844.5(COL2A1):c.1259G>A (p.Gly420Glu) rs2136577028
NM_001844.5(COL2A1):c.1260A>C (p.Gly420=)
NM_001844.5(COL2A1):c.1262C>G (p.Ser421Cys)
NM_001844.5(COL2A1):c.1266+10G>A rs2136576938
NM_001844.5(COL2A1):c.1266+13C>T rs534149798
NM_001844.5(COL2A1):c.1266+18A>C
NM_001844.5(COL2A1):c.1266+2dup
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001844.5(COL2A1):c.1267-11C>T
NM_001844.5(COL2A1):c.1267-14_1267-12del
NM_001844.5(COL2A1):c.1267-19C>G
NM_001844.5(COL2A1):c.1267-20C>T rs1592220294
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) rs1555167449
NM_001844.5(COL2A1):c.126T>A (p.Asn42Lys)
NM_001844.5(COL2A1):c.126del (p.Asn42fs)
NM_001844.5(COL2A1):c.1271C>T (p.Ala424Val)
NM_001844.5(COL2A1):c.127G>C (p.Asp43His)
NM_001844.5(COL2A1):c.1283C>G (p.Ala428Gly) rs1939466968
NM_001844.5(COL2A1):c.1283C>T (p.Ala428Val)
NM_001844.5(COL2A1):c.1284dup (p.Gly429fs)
NM_001844.5(COL2A1):c.1299_1302del (p.Phe433fs) rs1555167439
NM_001844.5(COL2A1):c.1301C>A (p.Pro434His) rs1939466091
NM_001844.5(COL2A1):c.1306C>T (p.Pro436Ser)
NM_001844.5(COL2A1):c.1309C>T (p.Arg437Trp) rs917659377
NM_001844.5(COL2A1):c.1310G>A (p.Arg437Gln)
NM_001844.5(COL2A1):c.1312G>T (p.Gly438Cys) rs2136575877
NM_001844.5(COL2A1):c.1314C>A (p.Gly438=) rs1793934
NM_001844.5(COL2A1):c.1321G>A (p.Gly441Ser)
NM_001844.5(COL2A1):c.1323C>A (p.Gly441=)
NM_001844.5(COL2A1):c.1327C>T (p.Gln443Ter)
NM_001844.5(COL2A1):c.1330G>A (p.Gly444Ser) rs1064796332
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.1331_1340del (p.Gly444fs) rs2136575705
NM_001844.5(COL2A1):c.1332T>C (p.Gly444=) rs778780891
NM_001844.5(COL2A1):c.1334C>G (p.Ala445Gly)
NM_001844.5(COL2A1):c.1336A>T (p.Thr446Ser)
NM_001844.5(COL2A1):c.1337C>T (p.Thr446Ile)
NM_001844.5(COL2A1):c.133G>T (p.Asp45Tyr)
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.1348G>A (p.Gly450Ser) rs2136575653
NM_001844.5(COL2A1):c.1348G>T (p.Gly450Cys)
NM_001844.5(COL2A1):c.1352C>G (p.Pro451Arg) rs766208636
NM_001844.5(COL2A1):c.1352C>T (p.Pro451Leu)
NM_001844.5(COL2A1):c.1357G>A (p.Gly453Ser) rs2136575582
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1358G>C (p.Gly453Ala) rs794727339
NM_001844.5(COL2A1):c.135T>A (p.Asp45Glu) rs375778172
NM_001844.5(COL2A1):c.135T>G (p.Asp45Glu)
NM_001844.5(COL2A1):c.1364C>G (p.Thr455Arg)
NM_001844.5(COL2A1):c.1364_1365+2dup rs2136575503
NM_001844.5(COL2A1):c.1365+1G>A rs2136575516
NM_001844.5(COL2A1):c.1365+20C>A
NM_001844.5(COL2A1):c.1365+2dup rs2136575491
NM_001844.5(COL2A1):c.1365+9C>T rs2136575400
NM_001844.5(COL2A1):c.1366-18C>T
NM_001844.5(COL2A1):c.1366-1G>A
NM_001844.5(COL2A1):c.1366-1G>C
NM_001844.5(COL2A1):c.1366-4C>T
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter) rs1555167368
NM_001844.5(COL2A1):c.1376G>C (p.Gly459Ala)
NM_001844.5(COL2A1):c.1377dup (p.Ile460fs) rs2136574184
NM_001844.5(COL2A1):c.1382C>G (p.Ala461Gly)
NM_001844.5(COL2A1):c.1385del (p.Gly462fs) rs2136574120
NM_001844.5(COL2A1):c.1386C>T (p.Gly462=)
NM_001844.5(COL2A1):c.1392A>G (p.Lys464=) rs2136574082
NM_001844.5(COL2A1):c.1394G>T (p.Gly465Val)
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.1403G>A (p.Gly468Asp)
NM_001844.5(COL2A1):c.1409del (p.Lys470fs) rs2136573975
NM_001844.5(COL2A1):c.140G>C (p.Trp47Ser)
NM_001844.5(COL2A1):c.1419+11G>C
NM_001844.5(COL2A1):c.1419+11G>T
NM_001844.5(COL2A1):c.1419+13C>A
NM_001844.5(COL2A1):c.1419+14C>T
NM_001844.5(COL2A1):c.1419+18A>T
NM_001844.5(COL2A1):c.1419+20C>T
NM_001844.5(COL2A1):c.1419+4A>G
NM_001844.5(COL2A1):c.1419dup (p.Gly474fs) rs2136573942
NM_001844.5(COL2A1):c.1420-114dup rs34642877
NM_001844.5(COL2A1):c.1420-13dup
NM_001844.5(COL2A1):c.1420-1G>A
NM_001844.5(COL2A1):c.1420-2A>C rs794727377
NM_001844.5(COL2A1):c.1420-2A>G rs794727377
NM_001844.5(COL2A1):c.1420-5C>T
NM_001844.5(COL2A1):c.1423C>A (p.Pro475Thr)
NM_001844.5(COL2A1):c.1423C>T (p.Pro475Ser)
NM_001844.5(COL2A1):c.1424del (p.Pro475fs)
NM_001844.5(COL2A1):c.1427C>T (p.Ala476Val)
NM_001844.5(COL2A1):c.1428T>C (p.Ala476=)
NM_001844.5(COL2A1):c.1429G>C (p.Gly477Arg)
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) rs2136571484
NM_001844.5(COL2A1):c.1435del (p.Gln479fs) rs2136571492
NM_001844.5(COL2A1):c.1436A>C (p.Gln479Pro)
NM_001844.5(COL2A1):c.1438G>T (p.Gly480Ter)
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu) rs2136571455
NM_001844.5(COL2A1):c.1439del (p.Gly480fs)
NM_001844.5(COL2A1):c.144G>A (p.Lys48=)
NM_001844.5(COL2A1):c.1450C>A (p.Pro484Thr)
NM_001844.5(COL2A1):c.1450C>T (p.Pro484Ser)
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp) rs1939412490
NM_001844.5(COL2A1):c.1467C>T (p.Gly489=) rs2136571245
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
NM_001844.5(COL2A1):c.1475G>A (p.Gly492Asp)
NM_001844.5(COL2A1):c.1480C>T (p.Arg494Cys)
NM_001844.5(COL2A1):c.1489_1492del (p.Pro497fs)
NM_001844.5(COL2A1):c.1499T>C (p.Val500Ala)
NM_001844.5(COL2A1):c.1501G>A (p.Gly501Arg) rs866502805
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) rs121912880
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) rs865903887
NM_001844.5(COL2A1):c.1518del (p.Gly507fs) rs2136570799
NM_001844.5(COL2A1):c.1520G>C (p.Gly507Ala)
NM_001844.5(COL2A1):c.1522_1523del (p.Glu508fs) rs2136570754
NM_001844.5(COL2A1):c.1525_1527delinsTGTGACC (p.Arg509fs) rs1592218614
NM_001844.5(COL2A1):c.1527+10dup rs1285069178
NM_001844.5(COL2A1):c.1527+135G>A rs1592218346
NM_001844.5(COL2A1):c.1527+17G>C
NM_001844.5(COL2A1):c.1527+18G>C rs2136570629
NM_001844.5(COL2A1):c.1527+4A>C rs2136570708
NM_001844.5(COL2A1):c.1527+72G>A
NM_001844.5(COL2A1):c.1528-10G>A rs1939380163
NM_001844.5(COL2A1):c.1528-18C>T
NM_001844.5(COL2A1):c.1528-4T>G rs1939379600
NM_001844.5(COL2A1):c.1528-6C>T
NM_001844.5(COL2A1):c.1528-81G>A
NM_001844.5(COL2A1):c.1528G>C (p.Gly510Arg) rs1555167157
NM_001844.5(COL2A1):c.1530T>C (p.Gly510=)
NM_001844.5(COL2A1):c.1536C>T (p.Pro512=)
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) rs1555167156
NM_001844.5(COL2A1):c.1541A>C (p.Asn514Thr)
NM_001844.5(COL2A1):c.1545C>T (p.Arg515=) rs41317925
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.1561G>A (p.Asp521Asn)
NM_001844.5(COL2A1):c.1566T>C (p.Gly522=)
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.156_166del (p.Arg53fs)
NM_001844.5(COL2A1):c.1570_1574del (p.Ala524fs) rs2136568573
NM_001844.5(COL2A1):c.1579A>G (p.Lys527Glu)
NM_001844.5(COL2A1):c.157C>T (p.Arg53Trp) rs776744207
NM_001844.5(COL2A1):c.157del (p.Arg53fs)
NM_001844.5(COL2A1):c.1581+18G>A
NM_001844.5(COL2A1):c.1581+3G>A
NM_001844.5(COL2A1):c.1582-14G>A
NM_001844.5(COL2A1):c.1582-17C>G
NM_001844.5(COL2A1):c.1582-2A>T
NM_001844.5(COL2A1):c.1582-4G>A rs2136568240
NM_001844.5(COL2A1):c.1582-8C>A rs931889900
NM_001844.5(COL2A1):c.1584A>G (p.Gly528=)
NM_001844.5(COL2A1):c.1588C>T (p.Pro530Ser)
NM_001844.5(COL2A1):c.1594G>C (p.Glu532Gln)
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.1598G>A (p.Arg533Gln)
NM_001844.5(COL2A1):c.15G>A (p.Gly5=)
NM_001844.5(COL2A1):c.1602G>T (p.Gly534=)
NM_001844.5(COL2A1):c.160A>T (p.Ile54Phe) rs1940157670
NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser) rs2136567996
NM_001844.5(COL2A1):c.1621C>T (p.Pro541Ser) rs2136567965
NM_001844.5(COL2A1):c.162C>A (p.Ile54=)
NM_001844.5(COL2A1):c.1630G>A (p.Ala544Thr) rs746870475
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.163del (p.Cys55fs)
NM_001844.5(COL2A1):c.1643del (p.Pro548fs)
NM_001844.5(COL2A1):c.1647C>A (p.Gly549=)
NM_001844.5(COL2A1):c.1648C>T (p.Arg550Cys) rs1555167091
NM_001844.5(COL2A1):c.1649G>A (p.Arg550His) rs186233557
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.164G>A (p.Cys55Tyr)
NM_001844.5(COL2A1):c.1662T>C (p.Pro554=)
NM_001844.5(COL2A1):c.1666C>T (p.Leu556Phe)
NM_001844.5(COL2A1):c.166G>A (p.Val56Ile) rs1940157547
NM_001844.5(COL2A1):c.1671T>C (p.Pro557=)
NM_001844.5(COL2A1):c.1673del (p.Gly558fs)
NM_001844.5(COL2A1):c.1675G>A (p.Ala559Thr) rs1424853323
NM_001844.5(COL2A1):c.1675G>T (p.Ala559Ser) rs1424853323
NM_001844.5(COL2A1):c.1679G>A (p.Arg560Gln) rs1186241291
NM_001844.5(COL2A1):c.1680+10A>G
NM_001844.5(COL2A1):c.1680+15del
NM_001844.5(COL2A1):c.1680+16G>T
NM_001844.5(COL2A1):c.1680+1G>A rs1057524696
NM_001844.5(COL2A1):c.1680+1G>C rs1057524696
NM_001844.5(COL2A1):c.1680+2dup rs2136567546
NM_001844.5(COL2A1):c.1680+8_1680+9delinsTA rs2136567481
NM_001844.5(COL2A1):c.1681-18T>C
NM_001844.5(COL2A1):c.1681-1dup rs1555167067
NM_001844.5(COL2A1):c.1681-2A>G rs2136566722
NM_001844.5(COL2A1):c.1681-5C>A
NM_001844.5(COL2A1):c.1681-5C>T
NM_001844.5(COL2A1):c.1681-7A>G rs2136566770
NM_001844.5(COL2A1):c.1681G>A (p.Gly561Ser)
NM_001844.5(COL2A1):c.1682G>T (p.Gly561Val) rs1939349946
NM_001844.5(COL2A1):c.1683T>A (p.Gly561=) rs2136566684
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1698T>C (p.Pro566=) rs1939348864
NM_001844.5(COL2A1):c.1699G>A (p.Gly567Ser) rs2136566584
NM_001844.5(COL2A1):c.1702G>A (p.Asp568Asn)
NM_001844.5(COL2A1):c.1703_1705dup (p.Asp568dup) rs2136566553
NM_001844.5(COL2A1):c.1703del (p.Asp568fs) rs2136566565
NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg) rs1064797167
NM_001844.5(COL2A1):c.1709dup (p.Pro571fs) rs1555167058
NM_001844.5(COL2A1):c.1716A>C (p.Gln572His)
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser) rs886042741
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg) rs886042741
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer) rs2136637244
NM_001844.5(COL2A1):c.1720A>C (p.Lys574Gln) rs2136566507
NM_001844.5(COL2A1):c.1726G>A (p.Gly576Ser) rs2136566494
NM_001844.5(COL2A1):c.1732T>G (p.Ser578Ala)
NM_001844.5(COL2A1):c.1734+3A>C rs1057521852
NM_001844.5(COL2A1):c.1734+9A>G
NM_001844.5(COL2A1):c.1735-15T>C rs1592216257
NM_001844.5(COL2A1):c.1735-2A>C
NM_001844.5(COL2A1):c.1735-7C>G
NM_001844.5(COL2A1):c.1735G>A (p.Gly579Arg) rs1939320461
NM_001844.5(COL2A1):c.1739C>A (p.Ala580Asp)
NM_001844.5(COL2A1):c.1742del (p.Pro581fs) rs2136564400
NM_001844.5(COL2A1):c.1744G>A (p.Gly582Ser)
NM_001844.5(COL2A1):c.1746_1749dup (p.Asp584Ter) rs1939319603
NM_001844.5(COL2A1):c.1751A>G (p.Asp584Gly)
NM_001844.5(COL2A1):c.1759C>T (p.Pro587Ser)
NM_001844.5(COL2A1):c.1760del (p.Pro587fs) rs2136564288
NM_001844.5(COL2A1):c.1763G>A (p.Gly588Glu)
NM_001844.5(COL2A1):c.1764A>G (p.Gly588=)
NM_001844.5(COL2A1):c.1765C>G (p.Pro589Ala)
NM_001844.5(COL2A1):c.1769C>T (p.Pro590Leu)
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg) rs886043712
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) rs2136564199
NM_001844.5(COL2A1):c.1781G>A (p.Gly594Glu) rs2136564183
NM_001844.5(COL2A1):c.1787G>A (p.Arg596His) rs1057524199
NM_001844.5(COL2A1):c.1789G>A (p.Gly597Arg) rs2136564137
NM_001844.5(COL2A1):c.178G>A (p.Gly60Arg)
NM_001844.5(COL2A1):c.1795C>T (p.Pro599Ser)
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val) rs794727438
NM_001844.5(COL2A1):c.179G>C (p.Gly60Ala)
NM_001844.5(COL2A1):c.1802T>C (p.Val601Ala) rs886043814
NM_001844.5(COL2A1):c.180G>A (p.Gly60=)
NM_001844.5(COL2A1):c.180G>C (p.Gly60=)
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg) rs886041945
NM_001844.5(COL2A1):c.1818C>T (p.Gly606=)
NM_001844.5(COL2A1):c.1824_1832del (p.Lys608_Ala610del) rs2136563934
NM_001844.5(COL2A1):c.1826G>C (p.Gly609Ala)
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) rs140580674
NM_001844.5(COL2A1):c.1829C>A (p.Ala610Asp) rs1293965789
NM_001844.5(COL2A1):c.1832A>C (p.Asn611Thr) rs142492439
NM_001844.5(COL2A1):c.1833+18C>T
NM_001844.5(COL2A1):c.1833+1G>A rs1939312423
NM_001844.5(COL2A1):c.1833+2dup
NM_001844.5(COL2A1):c.1833+9T>C
NM_001844.5(COL2A1):c.1834-18G>A rs750965381
NM_001844.5(COL2A1):c.1836_1837inv (p.Glu613Lys)
NM_001844.5(COL2A1):c.1838A>G (p.Glu613Gly) rs2136561768
NM_001844.5(COL2A1):c.1841C>T (p.Pro614Leu) rs1939283478
NM_001844.5(COL2A1):c.1844_1846del (p.Gly615_Lys616delinsGlu) rs2136561735
NM_001844.5(COL2A1):c.1848A>C (p.Lys616Asn) rs1001585299
NM_001844.5(COL2A1):c.1853G>A (p.Gly618Asp) rs1480620991
NM_001844.5(COL2A1):c.1859del (p.Lys620fs)
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) rs794727462
NM_001844.5(COL2A1):c.1862G>T (p.Gly621Val) rs1939281881
NM_001844.5(COL2A1):c.1866G>A (p.Leu622=) rs773380528
NM_001844.5(COL2A1):c.1869del (p.Gly624fs)
NM_001844.5(COL2A1):c.1870G>C (p.Gly624Arg)
NM_001844.5(COL2A1):c.1876C>T (p.Pro626Ser)
NM_001844.5(COL2A1):c.1879G>A (p.Gly627Ser)
NM_001844.5(COL2A1):c.1880G>A (p.Gly627Asp) rs1939280733
NM_001844.5(COL2A1):c.1886G>A (p.Arg629Lys) rs1939280357
NM_001844.5(COL2A1):c.1887+16C>T
NM_001844.5(COL2A1):c.1887+1G>T rs2136561510
NM_001844.5(COL2A1):c.1887+5G>A
NM_001844.5(COL2A1):c.1887+9C>T
NM_001844.5(COL2A1):c.1888-11C>T
NM_001844.5(COL2A1):c.1888-14del rs2136559359
NM_001844.5(COL2A1):c.1888-18_1888-14dup
NM_001844.5(COL2A1):c.1888-2A>G
NM_001844.5(COL2A1):c.1888G>A (p.Gly630Ser) rs1326550771
NM_001844.5(COL2A1):c.1896T>C (p.Pro632=) rs975857358
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser) rs1555166826
NM_001844.5(COL2A1):c.1907G>A (p.Gly636Asp) rs2136559202
NM_001844.5(COL2A1):c.1911G>A (p.Glu637=)
NM_001844.5(COL2A1):c.1913C>A (p.Thr638Lys) rs41263847
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) rs1057518908
NM_001844.5(COL2A1):c.1919C>A (p.Ala640Asp)
NM_001844.5(COL2A1):c.1919C>T (p.Ala640Val)
NM_001844.5(COL2A1):c.1924G>T (p.Gly642Ter) rs794727472
NM_001844.5(COL2A1):c.1925G>T (p.Gly642Val) rs1057524602
NM_001844.5(COL2A1):c.1926A>C (p.Gly642=)
NM_001844.5(COL2A1):c.1926A>T (p.Gly642=)
NM_001844.5(COL2A1):c.1928C>A (p.Pro643His)
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1930C>A (p.Pro644Thr)
NM_001844.5(COL2A1):c.1932T>G (p.Pro644=)
NM_001844.5(COL2A1):c.1932del (p.Gly645fs)
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+12C>T rs2136558760
NM_001844.5(COL2A1):c.1941+17C>A
NM_001844.5(COL2A1):c.1941+17C>G rs200048687
NM_001844.5(COL2A1):c.1941+1G>A rs1555166808
NM_001844.5(COL2A1):c.1941+1G>T
NM_001844.5(COL2A1):c.1942-13_1942-9del
NM_001844.5(COL2A1):c.1942-2A>G rs2136556938
NM_001844.5(COL2A1):c.1944A>G (p.Gly648=)
NM_001844.5(COL2A1):c.1944A>T (p.Gly648=)
NM_001844.5(COL2A1):c.1957C>A (p.Arg653=)
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.1960G>A (p.Gly654Ser) rs1322543333
NM_001844.5(COL2A1):c.1963G>A (p.Glu655Lys)
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys) rs1269619781
NM_001844.5(COL2A1):c.1972G>A (p.Ala658Thr) rs2136556746
NM_001844.5(COL2A1):c.1977T>C (p.Pro659=) rs1409464285
NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val)
NM_001844.5(COL2A1):c.1989G>A (p.Gly663=)
NM_001844.5(COL2A1):c.1990T>C (p.Phe664Leu) rs2136556644
NM_001844.5(COL2A1):c.1995+11G>A
NM_001844.5(COL2A1):c.1995+13A>G rs1381091347
NM_001844.5(COL2A1):c.1995+1G>A rs2136556600
NM_001844.5(COL2A1):c.1995+1G>T rs2136556600
NM_001844.5(COL2A1):c.1995+3A>T
NM_001844.5(COL2A1):c.1995+5G>A rs1449516565
NM_001844.5(COL2A1):c.1995+5del rs1249881190
NM_001844.5(COL2A1):c.1995+7G>A
NM_001844.5(COL2A1):c.1996-10C>A rs144804336
NM_001844.5(COL2A1):c.1996-1G>A rs886041935
NM_001844.5(COL2A1):c.1996-1G>C rs886041935
NM_001844.5(COL2A1):c.1996-3T>C
NM_001844.5(COL2A1):c.1996-8G>T rs2136555206
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) rs2136555177
NM_001844.5(COL2A1):c.1999C>A (p.Leu667Ile)
NM_001844.5(COL2A1):c.1A>G (p.Met1Val) rs2136652928
NM_001844.5(COL2A1):c.1A>T (p.Met1Leu)
NM_001844.5(COL2A1):c.2000_2001del (p.Leu667fs)
NM_001844.5(COL2A1):c.2003C>T (p.Pro668Leu) rs1259744514
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) rs1939205327
NM_001844.5(COL2A1):c.2007C>T (p.Gly669=) rs2136555077
NM_001844.5(COL2A1):c.2007_2015del (p.670PPG[1]) rs2136555011
NM_001844.5(COL2A1):c.2014G>T (p.Gly672Cys) rs2136555019
NM_001844.5(COL2A1):c.2015G>C (p.Gly672Ala) rs794727546
NM_001844.5(COL2A1):c.2018C>T (p.Pro673Leu) rs570533789
NM_001844.5(COL2A1):c.2023G>C (p.Gly675Arg) rs1423422339
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp) rs1565679062
NM_001844.5(COL2A1):c.2029_2030delinsAA (p.Gly677Asn) rs2136554903
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu) rs2136554879
NM_001844.5(COL2A1):c.2033del (p.Gly678fs)
NM_001844.5(COL2A1):c.2042G>T (p.Gly681Val) rs2136554860
NM_001844.5(COL2A1):c.2047C>A (p.Gln683Lys) rs1003758989
NM_001844.5(COL2A1):c.2048A>G (p.Gln683Arg) rs1939203203
NM_001844.5(COL2A1):c.2049+12G>A rs766863177
NM_001844.5(COL2A1):c.2049+1G>T
NM_001844.5(COL2A1):c.2049+4_2049+5insCCAGGTGT
NM_001844.5(COL2A1):c.2049+4_2049+9del
NM_001844.5(COL2A1):c.2049+5G>A rs374056956
NM_001844.5(COL2A1):c.2049+8T>C rs906839760
NM_001844.5(COL2A1):c.204C>G (p.Ile68Met)
NM_001844.5(COL2A1):c.2050-1G>T rs2136552988
NM_001844.5(COL2A1):c.2050-8T>C rs755168138
NM_001844.5(COL2A1):c.2050G>C (p.Gly684Arg)
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) rs1231988113
NM_001844.5(COL2A1):c.2051G>T (p.Gly684Val) rs2136552948
NM_001844.5(COL2A1):c.2053G>A (p.Val685Ile)
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.205T>C (p.Cys69Arg)
NM_001844.5(COL2A1):c.2068G>A (p.Gly690Arg) rs1321119554
NM_001844.5(COL2A1):c.2071G>T (p.Ala691Ser)
NM_001844.5(COL2A1):c.2072C>G (p.Ala691Gly)
NM_001844.5(COL2A1):c.2072C>T (p.Ala691Val)
NM_001844.5(COL2A1):c.2078G>A (p.Gly693Asp) rs2136552735
NM_001844.5(COL2A1):c.2080C>T (p.Leu694Phe)
NM_001844.5(COL2A1):c.2082C>T (p.Leu694=)
NM_001844.5(COL2A1):c.2089C>T (p.Pro697Ser)
NM_001844.5(COL2A1):c.2094+11T>C
NM_001844.5(COL2A1):c.2094+15G>A
NM_001844.5(COL2A1):c.2094+1G>A
NM_001844.5(COL2A1):c.2094+1G>C rs2136552560
NM_001844.5(COL2A1):c.2094+3G>T
NM_001844.5(COL2A1):c.2094+5G>A
NM_001844.5(COL2A1):c.2094+8T>A rs759292387
NM_001844.5(COL2A1):c.2094_2094+1dup rs2136552575
NM_001844.5(COL2A1):c.2095-14T>C
NM_001844.5(COL2A1):c.2095-14dup
NM_001844.5(COL2A1):c.2095-15G>A rs375487711
NM_001844.5(COL2A1):c.2095-15G>T
NM_001844.5(COL2A1):c.2095-16G>C
NM_001844.5(COL2A1):c.2095-19C>T
NM_001844.5(COL2A1):c.2095-1G>A
NM_001844.5(COL2A1):c.2095-4G>T
NM_001844.5(COL2A1):c.2095-8T>C rs2136551762
NM_001844.5(COL2A1):c.2095G>C (p.Gly699Arg) rs2136551691
NM_001844.5(COL2A1):c.209A>G (p.Glu70Gly)
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2102G>A (p.Arg701Gln)
NM_001844.5(COL2A1):c.2103_2108dup (p.Gly702_Phe703insLeuGly)
NM_001844.5(COL2A1):c.2111_2112insGGGTGAACGAGGTTTCCT (p.Gly708_Ser709insPheLeuGlyGluArgGly)
NM_001844.5(COL2A1):c.2119C>G (p.Arg707Gly) rs1409377649
NM_001844.5(COL2A1):c.2119C>T (p.Arg707Cys)
NM_001844.5(COL2A1):c.211G>A (p.Asp71Asn) rs943372344
NM_001844.5(COL2A1):c.2120G>A (p.Arg707His) rs982272166
NM_001844.5(COL2A1):c.2126C>G (p.Ser709Cys) rs771198337
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
NM_001844.5(COL2A1):c.2131G>C (p.Gly711Arg)
NM_001844.5(COL2A1):c.2132G>A (p.Gly711Asp) rs2136551433
NM_001844.5(COL2A1):c.2137C>T (p.Gln713Ter) rs2136551414
NM_001844.5(COL2A1):c.2140G>C (p.Gly714Arg)
NM_001844.5(COL2A1):c.2141G>T (p.Gly714Val) rs1555166537
NM_001844.5(COL2A1):c.2146C>T (p.Gln716Ter)
NM_001844.5(COL2A1):c.214G>A (p.Val72Met) rs755705390
NM_001844.5(COL2A1):c.2150del (p.Gly717fs) rs2136551308
NM_001844.5(COL2A1):c.2152C>T (p.Pro718Ser)
NM_001844.5(COL2A1):c.2156G>C (p.Arg719Pro) rs535980544
NM_001844.5(COL2A1):c.2156G>T (p.Arg719Leu) rs535980544
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.2160C>T (p.Gly720=)
NM_001844.5(COL2A1):c.2164C>T (p.Pro722Ser)
NM_001844.5(COL2A1):c.2165C>G (p.Pro722Arg) rs1939173724
NM_001844.5(COL2A1):c.2165C>T (p.Pro722Leu)
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser) rs1939173389
NM_001844.5(COL2A1):c.2168G>A (p.Gly723Asp) rs2136551055
NM_001844.5(COL2A1):c.2169C>T (p.Gly723=)
NM_001844.5(COL2A1):c.2177G>A (p.Gly726Asp)
NM_001844.5(COL2A1):c.2178C>T (p.Gly726=) rs760367020
NM_001844.5(COL2A1):c.2184T>C (p.Asp728=)
NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser)
NM_001844.5(COL2A1):c.2188C>T (p.Pro730Ser) rs2136550915
NM_001844.5(COL2A1):c.2190C>T (p.Pro730=)
NM_001844.5(COL2A1):c.2193+101G>T rs11168337
NM_001844.5(COL2A1):c.2193+5G>C
NM_001844.5(COL2A1):c.2194-17C>G
NM_001844.5(COL2A1):c.2194-2A>G
NM_001844.5(COL2A1):c.2194-54dup rs3842680
NM_001844.5(COL2A1):c.2194-6C>T
NM_001844.5(COL2A1):c.2194G>C (p.Gly732Arg) rs1221069783
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp) rs1555166457
NM_001844.5(COL2A1):c.2197G>A (p.Ala733Thr)
NM_001844.5(COL2A1):c.2198C>A (p.Ala733Glu) rs1939157535
NM_001844.5(COL2A1):c.2199A>T (p.Ala733=)
NM_001844.5(COL2A1):c.2200T>A (p.Ser734Thr)
NM_001844.5(COL2A1):c.2200del (p.Ser734fs)
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val) rs1367822001
NM_001844.5(COL2A1):c.2214C>T (p.Gly738=)
NM_001844.5(COL2A1):c.2215C>T (p.Pro739Ser) rs766460153
NM_001844.5(COL2A1):c.2217C>T (p.Pro739=)
NM_001844.5(COL2A1):c.2219C>G (p.Pro740Arg)
NM_001844.5(COL2A1):c.2219C>T (p.Pro740Leu)
NM_001844.5(COL2A1):c.2219del (p.Pro740fs) rs1565677720
NM_001844.5(COL2A1):c.2219dup (p.Gly741fs) rs1565677720
NM_001844.5(COL2A1):c.2222G>A (p.Gly741Glu)
NM_001844.5(COL2A1):c.2223G>A (p.Gly741=)
NM_001844.5(COL2A1):c.222C>G (p.Asp74Glu)
NM_001844.5(COL2A1):c.2233_2234del (p.Pro745fs)
NM_001844.5(COL2A1):c.2235T>G (p.Pro745=)
NM_001844.5(COL2A1):c.2245C>T (p.Gln749Ter) rs2136549115
NM_001844.5(COL2A1):c.224G>T (p.Cys75Phe) rs2136637051
NM_001844.5(COL2A1):c.2257G>A (p.Gly753Ser) rs2136549071
NM_001844.5(COL2A1):c.2259C>G (p.Gly753=)
NM_001844.5(COL2A1):c.225C>A (p.Cys75Ter)
NM_001844.5(COL2A1):c.2265G>T (p.Arg755Ser)
NM_001844.5(COL2A1):c.2267G>T (p.Gly756Val)
NM_001844.5(COL2A1):c.2268A>C (p.Gly756=)
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg) rs2136548994
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val) rs2136548974
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.2301+13G>T
NM_001844.5(COL2A1):c.2301+17C>T
NM_001844.5(COL2A1):c.2301+1G>T
NM_001844.5(COL2A1):c.2301+20C>G rs1939150194
NM_001844.5(COL2A1):c.2301+2dup
NM_001844.5(COL2A1):c.2301+4A>T
NM_001844.5(COL2A1):c.2302-10C>G
NM_001844.5(COL2A1):c.2302-10C>T rs201655768
NM_001844.5(COL2A1):c.2302-10del rs1183081521
NM_001844.5(COL2A1):c.2302-19T>C
NM_001844.5(COL2A1):c.2302-20C>G
NM_001844.5(COL2A1):c.2302-20C>T
NM_001844.5(COL2A1):c.2302-20_2302-17del
NM_001844.5(COL2A1):c.2302-6C>T
NM_001844.5(COL2A1):c.2302-7C>T
NM_001844.5(COL2A1):c.2305_2309del (p.Asp769fs) rs2136546785
NM_001844.5(COL2A1):c.230G>A (p.Ser77Asn)
NM_001844.5(COL2A1):c.2312G>C (p.Gly771Ala)
NM_001844.5(COL2A1):c.2325T>C (p.Pro775=)
NM_001844.5(COL2A1):c.2329G>T (p.Gly777Ter)
NM_001844.5(COL2A1):c.233C>T (p.Pro78Leu)
NM_001844.5(COL2A1):c.233dup (p.Pro78_Glu79insTer)
NM_001844.5(COL2A1):c.2343G>A (p.Lys781=)
NM_001844.5(COL2A1):c.2344_2355+5del
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser) rs2136546628
NM_001844.5(COL2A1):c.234T>A (p.Pro78=)
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) rs886043410
NM_001844.5(COL2A1):c.2354G>A (p.Arg785Gln) rs759073173
NM_001844.5(COL2A1):c.2355+11G>T rs1939124456
NM_001844.5(COL2A1):c.2355+13G>A
NM_001844.5(COL2A1):c.2355+16C>A
NM_001844.5(COL2A1):c.2355+16C>T
NM_001844.5(COL2A1):c.2355+1G>A rs1939124946
NM_001844.5(COL2A1):c.2355+20T>C
NM_001844.5(COL2A1):c.2355+4del
NM_001844.5(COL2A1):c.2355+5G>A rs1555166294
NM_001844.5(COL2A1):c.2355+5G>T rs1555166294
NM_001844.5(COL2A1):c.2356-16_2359del rs1939108031
NM_001844.5(COL2A1):c.2356-1G>A rs1341401004
NM_001844.5(COL2A1):c.2356-4G>T rs767986491
NM_001844.5(COL2A1):c.2361G>A (p.Leu787=)
NM_001844.5(COL2A1):c.2373T>C (p.Ile791=) rs2136544889
NM_001844.5(COL2A1):c.2376C>G (p.Gly792=)
NM_001844.5(COL2A1):c.2376C>T (p.Gly792=) rs886038490
NM_001844.5(COL2A1):c.2377C>T (p.Pro793Ser)
NM_001844.5(COL2A1):c.2380C>G (p.Pro794Ala) rs1019915024
NM_001844.5(COL2A1):c.2380C>T (p.Pro794Ser) rs1019915024
NM_001844.5(COL2A1):c.2381C>G (p.Pro794Arg)
NM_001844.5(COL2A1):c.2381C>T (p.Pro794Leu)
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.2381dup (p.Gly795fs) rs1555166218
NM_001844.5(COL2A1):c.2382del (p.Gly795fs) rs886044151
NM_001844.5(COL2A1):c.2385C>T (p.Gly795=)
NM_001844.5(COL2A1):c.2392G>A (p.Gly798Ser) rs2136544686
NM_001844.5(COL2A1):c.2393_2406del (p.Gly798fs) rs2136544532
NM_001844.5(COL2A1):c.2403C>G (p.Gly801=)
NM_001844.5(COL2A1):c.2406G>T (p.Glu802Asp) rs2136544523
NM_001844.5(COL2A1):c.2406del (p.Lys803fs)
NM_001844.5(COL2A1):c.2407_2409del (p.Lys803del) rs1057518139
NM_001844.5(COL2A1):c.2409+10G>A
NM_001844.5(COL2A1):c.2409+10G>C
NM_001844.5(COL2A1):c.2410-12C>T
NM_001844.5(COL2A1):c.2410-13T>G rs574507277
NM_001844.5(COL2A1):c.2410-1G>A rs2136542198
NM_001844.5(COL2A1):c.2410-20C>T
NM_001844.5(COL2A1):c.2410-79C>A rs79231959
NM_001844.5(COL2A1):c.2410-9C>T rs1469695989
NM_001844.5(COL2A1):c.2415A>G (p.Glu805=) rs772628060
NM_001844.5(COL2A1):c.2416G>T (p.Val806Phe)
NM_001844.5(COL2A1):c.2419G>A (p.Gly807Arg) rs2136542141
NM_001844.5(COL2A1):c.2423C>T (p.Pro808Leu)
NM_001844.5(COL2A1):c.2426C>T (p.Pro809Leu)
NM_001844.5(COL2A1):c.2427T>C (p.Pro809=)
NM_001844.5(COL2A1):c.2428G>A (p.Gly810Ser)
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys) rs794727596
NM_001844.5(COL2A1):c.2429G>C (p.Gly810Ala)
NM_001844.5(COL2A1):c.242C>G (p.Pro81Arg)
NM_001844.5(COL2A1):c.2432C>T (p.Pro811Leu) rs2136542077
NM_001844.5(COL2A1):c.2434G>T (p.Ala812Ser)
NM_001844.5(COL2A1):c.2436A>G (p.Ala812=) rs2136542036
NM_001844.5(COL2A1):c.2440A>T (p.Ser814Cys)
NM_001844.5(COL2A1):c.244T>G (p.Phe82Val) rs2136636961
NM_001844.5(COL2A1):c.2451T>C (p.Ala817=) rs1436214253
NM_001844.5(COL2A1):c.2452C>T (p.Arg818Cys) rs1345434851
NM_001844.5(COL2A1):c.2453G>A (p.Arg818His)
NM_001844.5(COL2A1):c.2453G>C (p.Arg818Pro) rs376834551
NM_001844.5(COL2A1):c.2453G>T (p.Arg818Leu)
NM_001844.5(COL2A1):c.2455G>A (p.Gly819Ser) rs2136541965
NM_001844.5(COL2A1):c.2463+13C>A
NM_001844.5(COL2A1):c.2463+13C>T
NM_001844.5(COL2A1):c.2463+15del rs1236539574
NM_001844.5(COL2A1):c.2463G>C (p.Pro821=)
NM_001844.5(COL2A1):c.2464-17_2464-16delinsTT
NM_001844.5(COL2A1):c.2464-18T>C
NM_001844.5(COL2A1):c.2464-1G>T
NM_001844.5(COL2A1):c.2464-75A>C rs2276458
NM_001844.5(COL2A1):c.2464-7C>G
NM_001844.5(COL2A1):c.246C>A (p.Phe82Leu)
NM_001844.5(COL2A1):c.2470C>T (p.Arg824Cys) rs1418853798
NM_001844.5(COL2A1):c.2471G>A (p.Arg824His)
NM_001844.5(COL2A1):c.2477A>T (p.Glu826Val)
NM_001844.5(COL2A1):c.2478G>A (p.Glu826=) rs2136539866
NM_001844.5(COL2A1):c.2478_2479del (p.Glu826fs) rs2136539854
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala) rs2136539832
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.2486C>A (p.Pro829His)
NM_001844.5(COL2A1):c.248G>C (p.Gly83Ala)
NM_001844.5(COL2A1):c.2490C>A (p.Pro830=) rs772029902
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg) rs886044702
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.2491G>C (p.Gly831Arg) rs1064796660
NM_001844.5(COL2A1):c.2491G>T (p.Gly831Ter)
NM_001844.5(COL2A1):c.2492G>T (p.Gly831Val) rs1555166013
NM_001844.5(COL2A1):c.2494C>G (p.Pro832Ala)
NM_001844.5(COL2A1):c.2500_2501delinsAA (p.Gly834Lys)
NM_001844.5(COL2A1):c.2506G>T (p.Ala836Ser)
NM_001844.5(COL2A1):c.2509G>C (p.Gly837Arg) rs1939031863
NM_001844.5(COL2A1):c.250G>A (p.Glu84Lys)
NM_001844.5(COL2A1):c.250del (p.Glu84fs)
NM_001844.5(COL2A1):c.2516C>T (p.Pro839Leu) rs1455812046
NM_001844.5(COL2A1):c.2517+16C>T rs375827442
NM_001844.5(COL2A1):c.2517+2T>C
NM_001844.5(COL2A1):c.2518-3T>C rs1305461428
NM_001844.5(COL2A1):c.2518-3T>G
NM_001844.5(COL2A1):c.2518G>C (p.Gly840Arg)
NM_001844.5(COL2A1):c.251A>G (p.Glu84Gly)
NM_001844.5(COL2A1):c.2523T>C (p.Ala841=) rs752418799
NM_001844.5(COL2A1):c.252G>A (p.Glu84=)
NM_001844.5(COL2A1):c.2530C>T (p.Gln844Ter) rs794727607
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) rs886042043
NM_001844.5(COL2A1):c.2545G>A (p.Gly849Ser)
NM_001844.5(COL2A1):c.2545G>T (p.Gly849Cys)
NM_001844.5(COL2A1):c.2552A>C (p.Gln851Pro) rs1057524266
NM_001844.5(COL2A1):c.2559G>T (p.Glu853Asp)
NM_001844.5(COL2A1):c.2562C>A (p.Ala854=)
NM_001844.5(COL2A1):c.2563G>A (p.Gly855Ser)
NM_001844.5(COL2A1):c.2563G>C (p.Gly855Arg) rs1193507525
NM_001844.5(COL2A1):c.2564G>C (p.Gly855Ala) rs2136537795
NM_001844.5(COL2A1):c.2566C>T (p.Gln856Ter) rs1565674604
NM_001844.5(COL2A1):c.2568G>A (p.Gln856=)
NM_001844.5(COL2A1):c.2570A>G (p.Lys857Arg) rs1939002524
NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser) rs2136537746
NM_001844.5(COL2A1):c.2575G>A (p.Asp859Asn)
NM_001844.5(COL2A1):c.2577T>C (p.Asp859=) rs1939002227
NM_001844.5(COL2A1):c.2577dup (p.Ala860fs) rs2136537698
NM_001844.5(COL2A1):c.2578dup (p.Ala860fs)
NM_001844.5(COL2A1):c.2589T>C (p.Pro863=) rs2136537583
NM_001844.5(COL2A1):c.2589del (p.Gly864fs)
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2593C>T (p.Pro865Ser)
NM_001844.5(COL2A1):c.2599G>A (p.Gly867Ser)
NM_001844.5(COL2A1):c.25_26delinsTA (p.Thr9Ter) rs1131691546
NM_001844.5(COL2A1):c.25_26delinsTG (p.Thr9Trp) rs1131691546
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val) rs886042849
NM_001844.5(COL2A1):c.2601C>T (p.Gly867=)
NM_001844.5(COL2A1):c.2604del (p.Ser869fs) rs2136537462
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu) rs886041429
NM_001844.5(COL2A1):c.2609G>T (p.Gly870Val) rs886041429
NM_001844.5(COL2A1):c.2615C>G (p.Pro872Arg)
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.261C>T (p.Pro87=) rs2136636867
NM_001844.5(COL2A1):c.261dup (p.Ile88fs) rs1592238899
NM_001844.5(COL2A1):c.2620C>A (p.Pro874Thr) rs377198201
NM_001844.5(COL2A1):c.2625+10G>A rs777264495
NM_001844.5(COL2A1):c.2625+17T>A
NM_001844.5(COL2A1):c.2625+18C>T
NM_001844.5(COL2A1):c.2625+1G>A
NM_001844.5(COL2A1):c.2625+1G>C
NM_001844.5(COL2A1):c.2627G>A (p.Gly876Asp) rs2136535158
NM_001844.5(COL2A1):c.2629C>T (p.Pro877Ser) rs2136535139
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val) rs760745824
NM_001844.5(COL2A1):c.262A>T (p.Ile88Phe)
NM_001844.5(COL2A1):c.2641A>T (p.Thr881Ser)
NM_001844.5(COL2A1):c.2642C>G (p.Thr881Ser)
NM_001844.5(COL2A1):c.2642C>T (p.Thr881Ile) rs768219590
NM_001844.5(COL2A1):c.2644G>C (p.Gly882Arg)
NM_001844.5(COL2A1):c.2647C>T (p.Pro883Ser)
NM_001844.5(COL2A1):c.2652A>G (p.Lys884=) rs2136535021
NM_001844.5(COL2A1):c.2658C>T (p.Ala886=)
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln) rs2136534972
NM_001844.5(COL2A1):c.2665G>A (p.Ala889Thr)
NM_001844.5(COL2A1):c.2668C>T (p.Gln890Ter)
NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala)
NM_001844.5(COL2A1):c.2673C>A (p.Gly891=)
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2673C>T (p.Gly891=)
NM_001844.5(COL2A1):c.2674C>T (p.Pro892Ser)
NM_001844.5(COL2A1):c.2675C>T (p.Pro892Leu) rs1160269578
NM_001844.5(COL2A1):c.2676C>A (p.Pro892=)
NM_001844.5(COL2A1):c.2678del (p.Pro893fs) rs1938958532
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) rs1938958532
NM_001844.5(COL2A1):c.2679+13T>A
NM_001844.5(COL2A1):c.2679+20C>A
NM_001844.5(COL2A1):c.2679+20C>T
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001844.5(COL2A1):c.2679+6T>G rs771289955
NM_001844.5(COL2A1):c.2679G>A (p.Pro893=) rs369684691
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) rs369684691
NM_001844.5(COL2A1):c.267C>A (p.Cys89Ter) rs2136636832
NM_001844.5(COL2A1):c.2680-14C>T rs2136532563
NM_001844.5(COL2A1):c.2680-7C>T
NM_001844.5(COL2A1):c.2680-8C>T
NM_001844.5(COL2A1):c.2687C>T (p.Thr896Ile)
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val) rs1281743095
NM_001844.5(COL2A1):c.2699del (p.Gly900fs) rs2136532405
NM_001844.5(COL2A1):c.2701G>A (p.Ala901Thr)
NM_001844.5(COL2A1):c.2704G>C (p.Ala902Pro)
NM_001844.5(COL2A1):c.2707G>A (p.Gly903Ser)
NM_001844.5(COL2A1):c.2709C>T (p.Gly903=) rs794727665
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001844.5(COL2A1):c.2711G>T (p.Arg904Leu)
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) rs1271505111
NM_001844.5(COL2A1):c.2714_2715dup (p.Gly906fs)
NM_001844.5(COL2A1):c.2718del (p.Pro908fs)
NM_001844.5(COL2A1):c.2720C>A (p.Pro907His)
NM_001844.5(COL2A1):c.2720C>T (p.Pro907Leu)
NM_001844.5(COL2A1):c.2726G>A (p.Gly909Asp)
NM_001844.5(COL2A1):c.2726G>C (p.Gly909Ala) rs2136532206
NM_001844.5(COL2A1):c.2733+10G>A rs1354251899
NM_001844.5(COL2A1):c.2733+16G>C rs1938916640
NM_001844.5(COL2A1):c.2733+19A>C
NM_001844.5(COL2A1):c.2733+19A>G rs1436470894
NM_001844.5(COL2A1):c.2733+7del
NM_001844.5(COL2A1):c.2733+9T>C
NM_001844.5(COL2A1):c.2734-17G>A rs371956146
NM_001844.5(COL2A1):c.2734-17G>T rs371956146
NM_001844.5(COL2A1):c.2734-18C>A
NM_001844.5(COL2A1):c.2734-18C>T rs570573455
NM_001844.5(COL2A1):c.2734-20C>T
NM_001844.5(COL2A1):c.2734-45_2734-43del rs59984649
NM_001844.5(COL2A1):c.2734-5_2734-3del
NM_001844.5(COL2A1):c.2734G>A (p.Gly912Ser)
NM_001844.5(COL2A1):c.2739C>G (p.Asn913Lys)
NM_001844.5(COL2A1):c.2746_2753dup (p.Pro920fs)
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2]) rs2136528419
NM_001844.5(COL2A1):c.274G>C (p.Asp92His)
NM_001844.5(COL2A1):c.2751del (p.Gly918fs) rs2136528572
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg) rs1565672299
NM_001844.5(COL2A1):c.2752G>T (p.Gly918Cys) rs1565672299
NM_001844.5(COL2A1):c.2753dup (p.Pro919fs) rs1938872900
NM_001844.5(COL2A1):c.2754del (p.Pro920fs) rs2136528535
NM_001844.5(COL2A1):c.2755C>G (p.Pro919Ala)
NM_001844.5(COL2A1):c.2755C>T (p.Pro919Ser)
NM_001844.5(COL2A1):c.2759C>A (p.Pro920His)
NM_001844.5(COL2A1):c.2759del (p.Pro920fs) rs2136528491
NM_001844.5(COL2A1):c.2759dup (p.Gly921fs)
NM_001844.5(COL2A1):c.2760del (p.Gly921fs)
NM_001844.5(COL2A1):c.2762G>A (p.Gly921Asp) rs2136528442
NM_001844.5(COL2A1):c.2763_2771del (p.Pro922_Gly924del) rs1938871701
NM_001844.5(COL2A1):c.2772A>G (p.Gly924=)
NM_001844.5(COL2A1):c.2777A>T (p.Asp926Val)
NM_001844.5(COL2A1):c.2778T>C (p.Asp926=)
NM_001844.5(COL2A1):c.2785A>T (p.Lys929Ter)
NM_001844.5(COL2A1):c.2787dup (p.Gly930fs)
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser) rs886043540
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg) rs886043540
NM_001844.5(COL2A1):c.2789G>C (p.Gly930Ala) rs1555165501
NM_001844.5(COL2A1):c.2791G>C (p.Ala931Pro)
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu) rs2136528309
NM_001844.5(COL2A1):c.2800G>C (p.Asp934His) rs1350090082
NM_001844.5(COL2A1):c.2804G>A (p.Ser935Asn)
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) rs777615798
NM_001844.5(COL2A1):c.2808C>A (p.Gly936=)
NM_001844.5(COL2A1):c.2809C>G (p.Pro937Ala)
NM_001844.5(COL2A1):c.2813del (p.Pro938fs) rs886039543
NM_001844.5(COL2A1):c.2813dup (p.Gly939fs)
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2818C>A (p.Arg940=)
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2822C>T (p.Ala941Val) rs936065719
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp) rs886041914
NM_001844.5(COL2A1):c.2826T>C (p.Gly942=) rs2136528105
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2833G>C (p.Gly945Arg)
NM_001844.5(COL2A1):c.2837T>C (p.Leu946Pro) rs2136528046
NM_001844.5(COL2A1):c.2841A>C (p.Gln947His)
NM_001844.5(COL2A1):c.2850dup (p.Gly951fs)
NM_001844.5(COL2A1):c.2858C>T (p.Pro953Leu)
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2863G>A (p.Glu955Lys)
NM_001844.5(COL2A1):c.2863G>T (p.Glu955Ter)
NM_001844.5(COL2A1):c.2872G>T (p.Glu958Ter)
NM_001844.5(COL2A1):c.2874G>A (p.Glu958=)
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001844.5(COL2A1):c.2891C>T (p.Pro964Leu)
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=) rs769500366
NM_001844.5(COL2A1):c.2895+1G>A
NM_001844.5(COL2A1):c.2896-14C>T
NM_001844.5(COL2A1):c.2896-19C>T
NM_001844.5(COL2A1):c.2896-5C>T rs2136526777
NM_001844.5(COL2A1):c.2901C>G (p.Ala967=)
NM_001844.5(COL2A1):c.2902G>T (p.Glu968Ter) rs144572461
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del) rs2136526614
NM_001844.5(COL2A1):c.2918C>A (p.Pro973His)
NM_001844.5(COL2A1):c.2918_2926del (p.Pro973_Gly975del) rs2136526580
NM_001844.5(COL2A1):c.292+11A>G
NM_001844.5(COL2A1):c.292+15A>C
NM_001844.5(COL2A1):c.292+15A>G
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.2920C>T (p.Gln974Ter)
NM_001844.5(COL2A1):c.2928G>A (p.Leu976=) rs2136526577
NM_001844.5(COL2A1):c.293-10dup
NM_001844.5(COL2A1):c.293-15T>A
NM_001844.5(COL2A1):c.293-18A>G
NM_001844.5(COL2A1):c.293-6T>G
NM_001844.5(COL2A1):c.293-8C>T
NM_001844.5(COL2A1):c.2933del (p.Gly978fs) rs1938845595
NM_001844.5(COL2A1):c.2934del (p.Gln979fs) rs1938845386
NM_001844.5(COL2A1):c.2939G>A (p.Arg980Lys)
NM_001844.5(COL2A1):c.2939G>C (p.Arg980Thr) rs1457365714
NM_001844.5(COL2A1):c.2942dup (p.Ile982fs) rs2136526506
NM_001844.5(COL2A1):c.2943C>G (p.Gly981=) rs566132150
NM_001844.5(COL2A1):c.2944A>G (p.Ile982Val)
NM_001844.5(COL2A1):c.2946C>G (p.Ile982Met) rs555904044
NM_001844.5(COL2A1):c.2947_2948dup (p.Gly984fs)
NM_001844.5(COL2A1):c.2950G>A (p.Gly984Ser) rs2136526413
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter)
NM_001844.5(COL2A1):c.2964A>G (p.Gln988=)
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.2967T>C (p.Arg989=)
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) rs121912895
NM_001844.5(COL2A1):c.2976_2977del (p.Gly993fs)
NM_001844.5(COL2A1):c.297del (p.Gln99fs) rs886044245
NM_001844.5(COL2A1):c.2980T>C (p.Phe994Leu)
NM_001844.5(COL2A1):c.2989_2997del (p.Leu997_Gly999del) rs2136526235
NM_001844.5(COL2A1):c.2998C>A (p.Pro1000Thr)
NM_001844.5(COL2A1):c.2999C>T (p.Pro1000Leu) rs149321146
NM_001844.5(COL2A1):c.299C>G (p.Pro100Arg) rs763903953
NM_001844.5(COL2A1):c.3000_3001del (p.Ser1001fs) rs2136526175
NM_001844.5(COL2A1):c.3003+18C>T
NM_001844.5(COL2A1):c.3003+6T>A
NM_001844.5(COL2A1):c.3003+7G>T
NM_001844.5(COL2A1):c.3003G>A (p.Ser1001=)
NM_001844.5(COL2A1):c.3004-12C>T rs2136525411
NM_001844.5(COL2A1):c.3004-1G>A rs2136525334
NM_001844.5(COL2A1):c.3004-3C>T
NM_001844.5(COL2A1):c.3004-4C>A rs1282280270
NM_001844.5(COL2A1):c.3004-6C>T rs2136525367
NM_001844.5(COL2A1):c.3004-7C>T
NM_001844.5(COL2A1):c.3004-8C>G rs1214532689
NM_001844.5(COL2A1):c.3009G>A (p.Glu1003=)
NM_001844.5(COL2A1):c.3009del (p.Glu1003fs)
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3021G>A (p.Gln1007=)
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val) rs765795867
NM_001844.5(COL2A1):c.3028C>A (p.Pro1010Thr)
NM_001844.5(COL2A1):c.3042A>T (p.Gly1014=)
NM_001844.5(COL2A1):c.3045C>T (p.Asp1015=)
NM_001844.5(COL2A1):c.3047_3056dup (p.Gly1020fs) rs2136525064
NM_001844.5(COL2A1):c.3053C>T (p.Pro1018Leu) rs1191511314
NM_001844.5(COL2A1):c.3055C>T (p.Pro1019Ser)
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) rs1555165335
NM_001844.5(COL2A1):c.3063C>T (p.Pro1021=)
NM_001844.5(COL2A1):c.3063del (p.Val1022fs) rs2136525034
NM_001844.5(COL2A1):c.306_309dup (p.Gly104fs)
NM_001844.5(COL2A1):c.3073C>T (p.Pro1025Ser)
NM_001844.5(COL2A1):c.3075T>C (p.Pro1025=)
NM_001844.5(COL2A1):c.3075dup (p.Gly1026fs) rs2136524986
NM_001844.5(COL2A1):c.3079C>T (p.Leu1027=)
NM_001844.5(COL2A1):c.3080T>C (p.Leu1027Pro) rs2136524904
NM_001844.5(COL2A1):c.3082A>T (p.Thr1028Ser)
NM_001844.5(COL2A1):c.3084G>A (p.Thr1028=) rs142786064
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)
NM_001844.5(COL2A1):c.309+20T>A rs368766858
NM_001844.5(COL2A1):c.309+5G>A
NM_001844.5(COL2A1):c.310-17A>G rs561118584
NM_001844.5(COL2A1):c.310-1G>A
NM_001844.5(COL2A1):c.310-20G>A
NM_001844.5(COL2A1):c.310-2A>G
NM_001844.5(COL2A1):c.310-8T>C rs1369777718
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3107G>T (p.Arg1036Leu)
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter) rs764210489
NM_001844.5(COL2A1):c.3111+13A>T
NM_001844.5(COL2A1):c.3111+15C>G
NM_001844.5(COL2A1):c.3111+16C>T
NM_001844.5(COL2A1):c.3111+1G>T
NM_001844.5(COL2A1):c.3111+2T>A
NM_001844.5(COL2A1):c.3112-2A>G
NM_001844.5(COL2A1):c.3112-87del rs573313146
NM_001844.5(COL2A1):c.3113G>A (p.Gly1038Glu) rs2136523042
NM_001844.5(COL2A1):c.3117C>A (p.Ser1039Arg) rs1938799246
NM_001844.5(COL2A1):c.3117C>T (p.Ser1039=) rs1938799246
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3122_3125dup (p.Asp1043fs) rs2136522933
NM_001844.5(COL2A1):c.3122del (p.Gly1041fs) rs2136522956
NM_001844.5(COL2A1):c.3123T>A (p.Gly1041=)
NM_001844.5(COL2A1):c.3123T>G (p.Gly1041=) rs749834758
NM_001844.5(COL2A1):c.3130G>A (p.Gly1044Ser) rs2136522924
NM_001844.5(COL2A1):c.3131G>C (p.Gly1044Ala)
NM_001844.5(COL2A1):c.3131del (p.Gly1044fs)
NM_001844.5(COL2A1):c.3132C>T (p.Gly1044=) rs780693364
NM_001844.5(COL2A1):c.3133C>A (p.Pro1045Thr)
NM_001844.5(COL2A1):c.3137C>T (p.Pro1046Leu)
NM_001844.5(COL2A1):c.3137del (p.Pro1046fs) rs1938797743
NM_001844.5(COL2A1):c.3137dup (p.Gly1047fs)
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.313C>T (p.Gln105Ter)
NM_001844.5(COL2A1):c.3144A>G (p.Arg1048=)
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242
NM_001844.5(COL2A1):c.3149G>T (p.Gly1050Val) rs1555165242
NM_001844.5(COL2A1):c.3156dup (p.Gly1053fs) rs1057518157
NM_001844.5(COL2A1):c.3165+13T>A
NM_001844.5(COL2A1):c.3165+16C>G rs1938794431
NM_001844.5(COL2A1):c.3165+1G>T rs767701661
NM_001844.5(COL2A1):c.3165+20G>T rs901151450
NM_001844.5(COL2A1):c.3165+3G>A
NM_001844.5(COL2A1):c.3165+4_3165+7del rs773138674
NM_001844.5(COL2A1):c.3165+80G>A
NM_001844.5(COL2A1):c.3166-15C>T
NM_001844.5(COL2A1):c.3166-2_3166-1del rs2136521786
NM_001844.5(COL2A1):c.3166-3C>T rs937072086
NM_001844.5(COL2A1):c.3166-6T>C rs2136521812
NM_001844.5(COL2A1):c.3166-8C>T rs1555165207
NM_001844.5(COL2A1):c.3172C>A (p.Arg1058Ser) rs148350640
NM_001844.5(COL2A1):c.3172C>T (p.Arg1058Cys) rs148350640
NM_001844.5(COL2A1):c.3177T>G (p.Gly1059=)
NM_001844.5(COL2A1):c.3186T>G (p.Gly1062=)
NM_001844.5(COL2A1):c.3189dup (p.Val1064fs)
NM_001844.5(COL2A1):c.3190G>T (p.Val1064Leu)
NM_001844.5(COL2A1):c.3194G>A (p.Gly1065Glu)
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu) rs1555165195
NM_001844.5(COL2A1):c.3206C>A (p.Ala1069Asp)
NM_001844.5(COL2A1):c.320G>C (p.Gly107Ala) rs1940054684
NM_001844.5(COL2A1):c.3210_3217dup (p.Pro1073fs)
NM_001844.5(COL2A1):c.3212G>A (p.Gly1071Glu) rs2136521542
NM_001844.5(COL2A1):c.3213G>A (p.Gly1071=) rs1938780128
NM_001844.5(COL2A1):c.3214C>G (p.Pro1072Ala) rs955829877
NM_001844.5(COL2A1):c.3215C>A (p.Pro1072His)
NM_001844.5(COL2A1):c.3216_3234dup (p.Ala1079fs) rs2136521329
NM_001844.5(COL2A1):c.3219del (p.Gly1074fs) rs2136521461
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=) rs746453469
NM_001844.5(COL2A1):c.3227del (p.Pro1076fs)
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) rs786205477
NM_001844.5(COL2A1):c.3234dup (p.Ala1079fs) rs2136521308
NM_001844.5(COL2A1):c.3237T>C (p.Ala1079=)
NM_001844.5(COL2A1):c.3237T>G (p.Ala1079=) rs2136521256
NM_001844.5(COL2A1):c.3238G>A (p.Gly1080Ser)
NM_001844.5(COL2A1):c.3238G>C (p.Gly1080Arg)
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
NM_001844.5(COL2A1):c.3257G>A (p.Gly1086Glu) rs2136521131
NM_001844.5(COL2A1):c.3259G>C (p.Asp1087His) rs1354118542
NM_001844.5(COL2A1):c.3262A>G (p.Arg1088Gly) rs2136521102
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del) rs2136521036
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)
NM_001844.5(COL2A1):c.3266G>A (p.Gly1089Glu) rs2136521056
NM_001844.5(COL2A1):c.326C>T (p.Pro109Leu)
NM_001844.5(COL2A1):c.3273+20del
NM_001844.5(COL2A1):c.3274-14C>T rs1565669770
NM_001844.5(COL2A1):c.3274-16C>T
NM_001844.5(COL2A1):c.3274-19G>T
NM_001844.5(COL2A1):c.3274-2A>G rs2136520141
NM_001844.5(COL2A1):c.3274-3C>T
NM_001844.5(COL2A1):c.3274-6C>T
NM_001844.5(COL2A1):c.3274-9_3274-6del rs1555165173
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp) rs794727684
NM_001844.5(COL2A1):c.3277G>A (p.Ala1093Thr)
NM_001844.5(COL2A1):c.3278C>T (p.Ala1093Val) rs2136520107
NM_001844.5(COL2A1):c.3278del (p.Ala1093fs)
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087
NM_001844.5(COL2A1):c.3283G>T (p.Gly1095Cys) rs2136520078
NM_001844.5(COL2A1):c.3286C>T (p.Pro1096Ser) rs761070916
NM_001844.5(COL2A1):c.3287_3297del (p.Pro1096fs)
NM_001844.5(COL2A1):c.3289A>G (p.Met1097Val)
NM_001844.5(COL2A1):c.32del (p.Val11fs) rs2136652716
NM_001844.5(COL2A1):c.3303A>G (p.Gly1101=)
NM_001844.5(COL2A1):c.3305C>T (p.Pro1102Leu) rs772478856
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp) rs374036874
NM_001844.5(COL2A1):c.3319G>A (p.Gly1107Arg) rs2136519756
NM_001844.5(COL2A1):c.3326A>C (p.Gln1109Pro) rs1055461266
NM_001844.5(COL2A1):c.3327+19T>C
NM_001844.5(COL2A1):c.3327+1G>A
NM_001844.5(COL2A1):c.3327+6T>C
NM_001844.5(COL2A1):c.3327+7A>G
NM_001844.5(COL2A1):c.3328-13G>A rs373278655
NM_001844.5(COL2A1):c.3328-14T>C
NM_001844.5(COL2A1):c.3328-17G>A
NM_001844.5(COL2A1):c.3328-19G>A
NM_001844.5(COL2A1):c.3328-20G>A rs73297150
NM_001844.5(COL2A1):c.3328-2A>G rs1938737244
NM_001844.5(COL2A1):c.3328-8G>T
NM_001844.5(COL2A1):c.3328G>C (p.Gly1110Arg) rs1938737050
NM_001844.5(COL2A1):c.3328G>T (p.Gly1110Cys) rs1938737050
NM_001844.5(COL2A1):c.3329G>C (p.Gly1110Ala) rs2136518845
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter) rs2136518839
NM_001844.5(COL2A1):c.333C>T (p.Asp111=) rs760076089
NM_001844.5(COL2A1):c.3340C>T (p.Pro1114Ser)
NM_001844.5(COL2A1):c.3341C>T (p.Pro1114Leu)
NM_001844.5(COL2A1):c.3343A>G (p.Arg1115Gly)
NM_001844.5(COL2A1):c.3344G>A (p.Arg1115Lys) rs762238866
NM_001844.5(COL2A1):c.3344G>C (p.Arg1115Thr)
NM_001844.5(COL2A1):c.3347G>A (p.Gly1116Asp)
NM_001844.5(COL2A1):c.3349G>C (p.Asp1117His)
NM_001844.5(COL2A1):c.334A>G (p.Ile112Val)
NM_001844.5(COL2A1):c.3353A>G (p.Lys1118Arg) rs774979011
NM_001844.5(COL2A1):c.3356del (p.Gly1119fs) rs1555165110
NM_001844.5(COL2A1):c.3358G>A (p.Glu1120Lys) rs1170064048
NM_001844.5(COL2A1):c.335T>C (p.Ile112Thr)
NM_001844.5(COL2A1):c.3364G>A (p.Gly1122Arg)
NM_001844.5(COL2A1):c.3365G>A (p.Gly1122Glu) rs1592199342
NM_001844.5(COL2A1):c.336C>T (p.Ile112=)
NM_001844.5(COL2A1):c.3373G>A (p.Gly1125Ser)
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) rs543083152
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.3382G>C (p.Gly1128Arg) rs886042612
NM_001844.5(COL2A1):c.3387G>T (p.Leu1129=)
NM_001844.5(COL2A1):c.3399T>C (p.Arg1133=)
NM_001844.5(COL2A1):c.339_340delinsTT (p.Lys113_Asp114delinsAsnTyr)
NM_001844.5(COL2A1):c.33G>C (p.Val11=)
NM_001844.5(COL2A1):c.3400G>A (p.Gly1134Ser) rs2136518300
NM_001844.5(COL2A1):c.3401G>A (p.Gly1134Asp)
NM_001844.5(COL2A1):c.3404T>G (p.Phe1135Cys)
NM_001844.5(COL2A1):c.3407C>T (p.Thr1136Ile)
NM_001844.5(COL2A1):c.340G>A (p.Asp114Asn) rs1940053470
NM_001844.5(COL2A1):c.3413T>A (p.Leu1138Gln)
NM_001844.5(COL2A1):c.342+1G>A rs2136629179
NM_001844.5(COL2A1):c.342+2_342+7del
NM_001844.5(COL2A1):c.342+3_342+6dup rs2136629152
NM_001844.5(COL2A1):c.342+5G>A rs2136629166
NM_001844.5(COL2A1):c.342+5del
NM_001844.5(COL2A1):c.342+8C>T
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser) rs2136518157
NM_001844.5(COL2A1):c.343-11C>G
NM_001844.5(COL2A1):c.343-15G>A
NM_001844.5(COL2A1):c.343-15G>T
NM_001844.5(COL2A1):c.343-1G>A
NM_001844.5(COL2A1):c.343-6T>G
NM_001844.5(COL2A1):c.343-7C>G rs1565695681
NM_001844.5(COL2A1):c.3432T>C (p.Pro1144=) rs1405303838
NM_001844.5(COL2A1):c.3435+18C>A
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_001844.5(COL2A1):c.3435+5G>A
NM_001844.5(COL2A1):c.3435+5G>C
NM_001844.5(COL2A1):c.3435+7G>A rs780209802
NM_001844.5(COL2A1):c.3435+83C>G rs2136517622
NM_001844.5(COL2A1):c.3435+9C>T
NM_001844.5(COL2A1):c.3436-11C>T
NM_001844.5(COL2A1):c.3436-17C>T rs2136517010
NM_001844.5(COL2A1):c.3436-1G>A rs2136516942
NM_001844.5(COL2A1):c.3436-7T>C rs2136516972
NM_001844.5(COL2A1):c.3436G>A (p.Gly1146Ser) rs2136516927
NM_001844.5(COL2A1):c.3436G>T (p.Gly1146Cys) rs2136516927
NM_001844.5(COL2A1):c.3436_3437insA (p.Gly1146fs)
NM_001844.5(COL2A1):c.3437G>A (p.Gly1146Asp) rs1938719104
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala) rs139720910
NM_001844.5(COL2A1):c.343A>G (p.Ile115Val)
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu) rs1938718512
NM_001844.5(COL2A1):c.3448G>T (p.Asp1150Tyr)
NM_001844.5(COL2A1):c.3454G>A (p.Gly1152Ser)
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) rs2136516779
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp) rs1938716355
NM_001844.5(COL2A1):c.3464G>T (p.Gly1155Val)
NM_001844.5(COL2A1):c.346_347insA (p.Val116fs) rs2136628462
NM_001844.5(COL2A1):c.3474T>C (p.Gly1158=) rs2136516713
NM_001844.5(COL2A1):c.3478T>G (p.Ser1160Ala) rs2136516677
NM_001844.5(COL2A1):c.3489+11T>C
NM_001844.5(COL2A1):c.3489+19G>A rs2136516551
NM_001844.5(COL2A1):c.3489+221_3489+222insGACCCCTGG rs145571589
NM_001844.5(COL2A1):c.3489+3_3489+6del
NM_001844.5(COL2A1):c.3489+6T>C
NM_001844.5(COL2A1):c.3489+8A>G rs2136516609
NM_001844.5(COL2A1):c.348A>G (p.Val116=) rs1940046322
NM_001844.5(COL2A1):c.3490-15CT[3]
NM_001844.5(COL2A1):c.3490-15CT[4] rs780110289
NM_001844.5(COL2A1):c.3490-16C>A
NM_001844.5(COL2A1):c.3490-18G>A rs778292426
NM_001844.5(COL2A1):c.3490-19C>A rs200223738
NM_001844.5(COL2A1):c.3490-19C>G
NM_001844.5(COL2A1):c.3490-2A>G rs2136514651
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) rs2136514646
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp) rs1476546104
NM_001844.5(COL2A1):c.3501C>T (p.Gly1167=)
NM_001844.5(COL2A1):c.3504C>A (p.Pro1168=)
NM_001844.5(COL2A1):c.3504C>G (p.Pro1168=)
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg) rs121912891
NM_001844.5(COL2A1):c.3509G>C (p.Gly1170Ala)
NM_001844.5(COL2A1):c.3511C>G (p.Pro1171Ala) rs147750391
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) rs147750391
NM_001844.5(COL2A1):c.3513C>A (p.Pro1171=)
NM_001844.5(COL2A1):c.3515_3516del (p.Ser1172fs)
NM_001844.5(COL2A1):c.3516T>G (p.Ser1172=) rs2136514463
NM_001844.5(COL2A1):c.3526G>A (p.Gly1176Ser) rs2136514418
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp) rs1592197752
NM_001844.5(COL2A1):c.3536dup (p.Ile1180fs)
NM_001844.5(COL2A1):c.3538A>C (p.Ile1180Leu)
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu)
NM_001844.5(COL2A1):c.3540C>A (p.Ile1180=)
NM_001844.5(COL2A1):c.3541C>T (p.Pro1181Ser)
NM_001844.5(COL2A1):c.3551T>C (p.Ile1184Thr)
NM_001844.5(COL2A1):c.3555G>C (p.Gly1185=) rs2136514279
NM_001844.5(COL2A1):c.3560C>G (p.Pro1187Arg)
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.3569G>A (p.Arg1190His)
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) rs886042651
NM_001844.5(COL2A1):c.3578C>T (p.Ser1193Leu) rs755514365
NM_001844.5(COL2A1):c.3582C>G (p.Gly1194=) rs566528045
NM_001844.5(COL2A1):c.3583G>A (p.Glu1195Lys)
NM_001844.5(COL2A1):c.3585A>G (p.Glu1195=)
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg) rs121912870
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) rs1938686073
NM_001844.5(COL2A1):c.3597+17del rs758237369
NM_001844.5(COL2A1):c.3597+1G>A rs1555164874
NM_001844.5(COL2A1):c.3597+1G>C rs1555164874
NM_001844.5(COL2A1):c.3597+6T>C rs2136514015
NM_001844.5(COL2A1):c.3598-10C>T
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001844.5(COL2A1):c.3598-20C>T
NM_001844.5(COL2A1):c.3598-2A>G rs2136512643
NM_001844.5(COL2A1):c.3598-3C>G rs1210989012
NM_001844.5(COL2A1):c.3598-4G>T rs1938666098
NM_001844.5(COL2A1):c.3599G>A (p.Gly1200Asp) rs1362154291
NM_001844.5(COL2A1):c.35T>C (p.Leu12Pro) rs2136652710
NM_001844.5(COL2A1):c.3606_3632del (p.Asn1204_Gly1212del) rs2136512470
NM_001844.5(COL2A1):c.3623del (p.Pro1208fs) rs2136512528
NM_001844.5(COL2A1):c.3623dup (p.Gly1209fs)
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.3630del (p.Pro1211fs)
NM_001844.5(COL2A1):c.3631_3648dup (p.Pro1216_Gly1217insProGlyProProGlyPro)
NM_001844.5(COL2A1):c.3642T>C (p.Pro1214=)
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) rs1592196744
NM_001844.5(COL2A1):c.3645C>T (p.Gly1215=) rs2136512356
NM_001844.5(COL2A1):c.3647C>G (p.Pro1216Arg) rs1418851351
NM_001844.5(COL2A1):c.3648T>C (p.Pro1216=) rs1938662465
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn) rs760093841
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His) rs760093841
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr) rs760093841
NM_001844.5(COL2A1):c.3659T>G (p.Met1220Arg) rs886049445
NM_001844.5(COL2A1):c.3661_3665dup (p.Phe1223fs)
NM_001844.5(COL2A1):c.3663del (p.Ala1222fs) rs1938661102
NM_001844.5(COL2A1):c.3664G>A (p.Ala1222Thr)
NM_001844.5(COL2A1):c.3676T>A (p.Leu1226Ile) rs2136512147
NM_001844.5(COL2A1):c.3683C>G (p.Pro1228Arg) rs371974287
NM_001844.5(COL2A1):c.3686G>C (p.Arg1229Thr)
NM_001844.5(COL2A1):c.3694G>T (p.Gly1232Cys) rs1276202058
NM_001844.5(COL2A1):c.3696C>T (p.Gly1232=)
NM_001844.5(COL2A1):c.3699del (p.Asp1234fs)
NM_001844.5(COL2A1):c.3701A>G (p.Asp1234Gly)
NM_001844.5(COL2A1):c.3702C>T (p.Asp1234=)
NM_001844.5(COL2A1):c.3703C>A (p.Pro1235Thr)
NM_001844.5(COL2A1):c.3704C>T (p.Pro1235Leu)
NM_001844.5(COL2A1):c.3706C>T (p.Leu1236=) rs769035328
NM_001844.5(COL2A1):c.3706del (p.Leu1236fs) rs2136511970
NM_001844.5(COL2A1):c.3706dup (p.Leu1236fs)
NM_001844.5(COL2A1):c.3707T>C (p.Leu1236Pro)
NM_001844.5(COL2A1):c.3707T>G (p.Leu1236Arg)
NM_001844.5(COL2A1):c.3709C>T (p.Gln1237Ter) rs2136511934
NM_001844.5(COL2A1):c.3715A>G (p.Met1239Val) rs200136879
NM_001844.5(COL2A1):c.3718C>A (p.Arg1240=) rs374082762
NM_001844.5(COL2A1):c.3721G>A (p.Ala1241Thr) rs1208388893
NM_001844.5(COL2A1):c.3721del (p.Ala1241fs)
NM_001844.5(COL2A1):c.3722C>A (p.Ala1241Asp)
NM_001844.5(COL2A1):c.3724G>A (p.Asp1242Asn)
NM_001844.5(COL2A1):c.3744G>A (p.Leu1248=)
NM_001844.5(COL2A1):c.375+13G>A rs2136628241
NM_001844.5(COL2A1):c.375+16A>G rs1940044356
NM_001844.5(COL2A1):c.375+2T>A
NM_001844.5(COL2A1):c.375+4AG[2]
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu) rs377079894
NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=) rs377079894
NM_001844.5(COL2A1):c.376-13T>C
NM_001844.5(COL2A1):c.376-15G>A
NM_001844.5(COL2A1):c.376-1G>A rs1940039533
NM_001844.5(COL2A1):c.376-1G>C rs1940039533
NM_001844.5(COL2A1):c.376-4T>G rs2136627736
NM_001844.5(COL2A1):c.376G>A (p.Gly126Arg)
NM_001844.5(COL2A1):c.3770C>A (p.Ala1257Asp) rs1169999705
NM_001844.5(COL2A1):c.377_378dup (p.Pro127fs)
NM_001844.5(COL2A1):c.3782C>T (p.Ser1261Phe)
NM_001844.5(COL2A1):c.3783C>T (p.Ser1261=)
NM_001844.5(COL2A1):c.3784C>T (p.Leu1262Phe)
NM_001844.5(COL2A1):c.3791_3794del (p.Asn1264fs) rs794727748
NM_001844.5(COL2A1):c.3793C>T (p.Gln1265Ter) rs2136511304
NM_001844.5(COL2A1):c.3797T>C (p.Ile1266Thr)
NM_001844.5(COL2A1):c.37C>T (p.Leu13=) rs1940370442
NM_001844.5(COL2A1):c.3802A>C (p.Ser1268Arg)
NM_001844.5(COL2A1):c.3802A>G (p.Ser1268Gly) rs374360275
NM_001844.5(COL2A1):c.3803G>C (p.Ser1268Thr)
NM_001844.5(COL2A1):c.3806T>C (p.Ile1269Thr)
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) rs886049444
NM_001844.5(COL2A1):c.3808del (p.Arg1270fs) rs2136511168
NM_001844.5(COL2A1):c.3810C>T (p.Arg1270=)
NM_001844.5(COL2A1):c.3816del (p.Glu1273fs)
NM_001844.5(COL2A1):c.3822C>G (p.Gly1274=)
NM_001844.5(COL2A1):c.3825C>T (p.Ser1275=)
NM_001844.5(COL2A1):c.3826C>G (p.Arg1276Gly)
NM_001844.5(COL2A1):c.3826C>T (p.Arg1276Cys)
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.3831del (p.Asn1278fs) rs2136510961
NM_001844.5(COL2A1):c.3841C>T (p.Arg1281Cys)
NM_001844.5(COL2A1):c.3852A>G (p.Arg1284=)
NM_001844.5(COL2A1):c.3864_3865del (p.Cys1289fs) rs2136510866
NM_001844.5(COL2A1):c.3882G>T (p.Lys1294Asn) rs1938646610
NM_001844.5(COL2A1):c.3886+17G>C
NM_001844.5(COL2A1):c.3886+17G>T
NM_001844.5(COL2A1):c.3886+18G>A
NM_001844.5(COL2A1):c.3886+1G>A rs2136510769
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg) rs546672421
NM_001844.5(COL2A1):c.3887-17G>C
NM_001844.5(COL2A1):c.3887-1G>C rs1565666318
NM_001844.5(COL2A1):c.3887-6del rs572863485
NM_001844.5(COL2A1):c.3887-7C>G
NM_001844.5(COL2A1):c.3892del (p.Tyr1298fs) rs2136508934
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) rs2136508909
NM_001844.5(COL2A1):c.3897G>C (p.Trp1299Cys)
NM_001844.5(COL2A1):c.3898_3964delinsTAGT (p.Ile1300_Thr1322delinsTer)
NM_001844.5(COL2A1):c.3899T>C (p.Ile1300Thr)
NM_001844.5(COL2A1):c.389A>G (p.Glu130Gly)
NM_001844.5(COL2A1):c.3900T>C (p.Ile1300=)
NM_001844.5(COL2A1):c.3901G>C (p.Asp1301His)
NM_001844.5(COL2A1):c.3903C>A (p.Asp1301Glu) rs2136508859
NM_001844.5(COL2A1):c.3903C>T (p.Asp1301=)
NM_001844.5(COL2A1):c.3906dup (p.Asn1303fs)
NM_001844.5(COL2A1):c.3909C>T (p.Asn1303=)
NM_001844.5(COL2A1):c.390A>G (p.Glu130=)
NM_001844.5(COL2A1):c.3913G>A (p.Gly1305Ser)
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) rs121912887
NM_001844.5(COL2A1):c.3919A>G (p.Thr1307Ala)
NM_001844.5(COL2A1):c.391C>T (p.Gln131Ter)
NM_001844.5(COL2A1):c.3922T>C (p.Leu1308=) rs564976657
NM_001844.5(COL2A1):c.3925G>A (p.Asp1309Asn)
NM_001844.5(COL2A1):c.3925G>C (p.Asp1309His)
NM_001844.5(COL2A1):c.3926A>G (p.Asp1309Gly)
NM_001844.5(COL2A1):c.3927C>G (p.Asp1309Glu)
NM_001844.5(COL2A1):c.3928G>A (p.Ala1310Thr)
NM_001844.5(COL2A1):c.3929C>T (p.Ala1310Val)
NM_001844.5(COL2A1):c.3932T>C (p.Met1311Thr)
NM_001844.5(COL2A1):c.3935A>C (p.Lys1312Thr) rs2136508728
NM_001844.5(COL2A1):c.3936G>A (p.Lys1312=)
NM_001844.5(COL2A1):c.393del (p.Gly132fs)
NM_001844.5(COL2A1):c.3949A>G (p.Met1317Val)
NM_001844.5(COL2A1):c.3950T>A (p.Met1317Lys) rs1555164561
NM_001844.5(COL2A1):c.3961G>T (p.Glu1321Ter)
NM_001844.5(COL2A1):c.3965C>A (p.Thr1322Asn)
NM_001844.5(COL2A1):c.3966_3967del (p.Cys1323fs) rs2136508595
NM_001844.5(COL2A1):c.3968G>C (p.Cys1323Ser) rs2136508586
NM_001844.5(COL2A1):c.3968dup (p.Cys1323fs)
NM_001844.5(COL2A1):c.3969C>A (p.Cys1323Ter) rs577585827
NM_001844.5(COL2A1):c.3969C>G (p.Cys1323Trp)
NM_001844.5(COL2A1):c.396A>G (p.Gly132=)
NM_001844.5(COL2A1):c.396A>T (p.Gly132=)
NM_001844.5(COL2A1):c.3976C>G (p.Pro1326Ala)
NM_001844.5(COL2A1):c.3978C>T (p.Pro1326=)
NM_001844.5(COL2A1):c.3978_3979insG (p.Asn1327fs) rs2136508488
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs) rs2136508504
NM_001844.5(COL2A1):c.3987A>C (p.Ala1329=)
NM_001844.5(COL2A1):c.3994C>T (p.Pro1332Ser) rs2136508378
NM_001844.5(COL2A1):c.3996del (p.Lys1333fs) rs2136508368
NM_001844.5(COL2A1):c.3997A>C (p.Lys1333Gln)
NM_001844.5(COL2A1):c.3999G>A (p.Lys1333=) rs2136508356
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.4012A>G (p.Ser1338Gly) rs2136508315
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn) rs2136508302
NM_001844.5(COL2A1):c.4015AGCAAG[1] (p.1339SK[1])
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu) rs927945133
NM_001844.5(COL2A1):c.4025del (p.Lys1342fs) rs2136508191
NM_001844.5(COL2A1):c.4027_4029del (p.Glu1343del) rs2136508179
NM_001844.5(COL2A1):c.402dup (p.Gly135fs) rs2136627628
NM_001844.5(COL2A1):c.4055C>T (p.Thr1352Ile) rs2136508104
NM_001844.5(COL2A1):c.4057A>G (p.Ile1353Val)
NM_001844.5(COL2A1):c.4058T>C (p.Ile1353Thr)
NM_001844.5(COL2A1):c.405G>C (p.Gly135=)
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.4073A>T (p.His1358Leu)
NM_001844.5(COL2A1):c.4074+13G>A
NM_001844.5(COL2A1):c.4074+15G>A
NM_001844.5(COL2A1):c.4074+16C>G
NM_001844.5(COL2A1):c.4074+16C>T
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.4074+5G>A
NM_001844.5(COL2A1):c.4074+8C>A
NM_001844.5(COL2A1):c.4074+8C>G
NM_001844.5(COL2A1):c.4075-14C>T
NM_001844.5(COL2A1):c.4075-17G>C
NM_001844.5(COL2A1):c.4075-18C>G
NM_001844.5(COL2A1):c.4075-18C>T
NM_001844.5(COL2A1):c.4075-1G>C rs2136506437
NM_001844.5(COL2A1):c.4075-1G>T rs2136506437
NM_001844.5(COL2A1):c.4075-3C>G rs757931927
NM_001844.5(COL2A1):c.4075-57C>A rs41272765
NM_001844.5(COL2A1):c.4075-7C>T
NM_001844.5(COL2A1):c.4078A>G (p.Ser1360Gly) rs2136506426
NM_001844.5(COL2A1):c.4081T>G (p.Tyr1361Asp)
NM_001844.5(COL2A1):c.4082A>G (p.Tyr1361Cys)
NM_001844.5(COL2A1):c.4091A>C (p.Asp1364Ala) rs2136506322
NM_001844.5(COL2A1):c.4092C>T (p.Asp1364=)
NM_001844.5(COL2A1):c.4098G>C (p.Leu1366=)
NM_001844.5(COL2A1):c.4099G>T (p.Ala1367Ser)
NM_001844.5(COL2A1):c.40A>T (p.Thr14Ser) rs1940370196
NM_001844.5(COL2A1):c.4121A>C (p.Gln1374Pro)
NM_001844.5(COL2A1):c.4121A>T (p.Gln1374Leu)
NM_001844.5(COL2A1):c.4123A>G (p.Met1375Val)
NM_001844.5(COL2A1):c.4124T>C (p.Met1375Thr)
NM_001844.5(COL2A1):c.4127C>A (p.Thr1376Asn)
NM_001844.5(COL2A1):c.4127_4128dup (p.Phe1377fs)
NM_001844.5(COL2A1):c.4135C>A (p.Arg1379Ser)
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4137C>T (p.Arg1379=) rs2136505936
NM_001844.5(COL2A1):c.4142_4143insCCACGGACGTAGA (p.Ser1382fs)
NM_001844.5(COL2A1):c.4143G>A (p.Leu1381=)
NM_001844.5(COL2A1):c.4146C>T (p.Ser1382=)
NM_001844.5(COL2A1):c.4150G>A (p.Glu1384Lys)
NM_001844.5(COL2A1):c.4152A>G (p.Glu1384=)
NM_001844.5(COL2A1):c.4157C>A (p.Ser1386Tyr)
NM_001844.5(COL2A1):c.4159C>T (p.Gln1387Ter) rs2136505738
NM_001844.5(COL2A1):c.4166_4168del (p.Ile1389del) rs1064796170
NM_001844.5(COL2A1):c.416A>G (p.Asp139Gly) rs2136627532
NM_001844.5(COL2A1):c.4170C>T (p.Thr1390=)
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) rs121912889
NM_001844.5(COL2A1):c.4175_4176dup (p.Cys1393fs)
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.4195_4205delinsAGCATTGCC (p.Tyr1399fs) rs1555164385
NM_001844.5(COL2A1):c.4205A>T (p.Glu1402Val) rs1938575798
NM_001844.5(COL2A1):c.4206A>G (p.Glu1402=) rs2136505390
NM_001844.5(COL2A1):c.4218C>A (p.Asn1406Lys)
NM_001844.5(COL2A1):c.421G>T (p.Gly141Cys)
NM_001844.5(COL2A1):c.4225A>G (p.Lys1409Glu) rs1938575220
NM_001844.5(COL2A1):c.4226A>C (p.Lys1409Thr) rs2136505295
NM_001844.5(COL2A1):c.4228G>A (p.Ala1410Thr) rs1057524467
NM_001844.5(COL2A1):c.4229C>A (p.Ala1410Asp) rs2136505279
NM_001844.5(COL2A1):c.4231_4240del (p.Leu1411fs)
NM_001844.5(COL2A1):c.4232T>C (p.Leu1411Pro) rs2136505266
NM_001844.5(COL2A1):c.4235T>A (p.Leu1412His)
NM_001844.5(COL2A1):c.4239C>T (p.Ile1413=) rs1565665102
NM_001844.5(COL2A1):c.423T>G (p.Gly141=)
NM_001844.5(COL2A1):c.4240C>T (p.Gln1414Ter)
NM_001844.5(COL2A1):c.4245C>T (p.Gly1415=)
NM_001844.5(COL2A1):c.4254C>G (p.Asp1418Glu) rs748658390
NM_001844.5(COL2A1):c.4254del (p.Asp1418fs)
NM_001844.5(COL2A1):c.4259A>C (p.Glu1420Ala)
NM_001844.5(COL2A1):c.4266G>A (p.Arg1422=)
NM_001844.5(COL2A1):c.4268C>G (p.Ala1423Gly)
NM_001844.5(COL2A1):c.4272G>A (p.Glu1424=)
NM_001844.5(COL2A1):c.4281C>G (p.Ser1427Arg)
NM_001844.5(COL2A1):c.429+12G>A
NM_001844.5(COL2A1):c.429+1G>C
NM_001844.5(COL2A1):c.429+8A>C
NM_001844.5(COL2A1):c.4291T>C (p.Tyr1431His) rs1938571833
NM_001844.5(COL2A1):c.4293C>A (p.Tyr1431Ter) rs2136504848
NM_001844.5(COL2A1):c.4299C>T (p.Ala1433=)
NM_001844.5(COL2A1):c.430-10T>C
NM_001844.5(COL2A1):c.430-11T>C
NM_001844.5(COL2A1):c.430-12C>G
NM_001844.5(COL2A1):c.430-1G>A rs2136626600
NM_001844.5(COL2A1):c.430-23_441del rs1940028187
NM_001844.5(COL2A1):c.430-2A>T
NM_001844.5(COL2A1):c.430-7T>A rs2136626631
NM_001844.5(COL2A1):c.4303A>T (p.Lys1435Ter)
NM_001844.5(COL2A1):c.4306G>A (p.Asp1436Asn) rs794727757
NM_001844.5(COL2A1):c.4310_4313dup (p.Cys1438fs) rs2136504769
NM_001844.5(COL2A1):c.4315A>G (p.Thr1439Ala)
NM_001844.5(COL2A1):c.4317+10G>A
NM_001844.5(COL2A1):c.4317+13G>T
NM_001844.5(COL2A1):c.4317+15C>T rs1370882684
NM_001844.5(COL2A1):c.4317+19G>A
NM_001844.5(COL2A1):c.4317+1del rs2136504675
NM_001844.5(COL2A1):c.4317+2T>G rs2136504658
NM_001844.5(COL2A1):c.4317G>A (p.Thr1439=)
NM_001844.5(COL2A1):c.4317_4317+3dup
NM_001844.5(COL2A1):c.4318-23CCT[2]
NM_001844.5(COL2A1):c.4318-31_4318-15del
NM_001844.5(COL2A1):c.4318-4C>G rs2136502748
NM_001844.5(COL2A1):c.4318-6C>T rs2136502761
NM_001844.5(COL2A1):c.4318A>G (p.Lys1440Glu) rs2136502727
NM_001844.5(COL2A1):c.4319_4322dup (p.His1441fs)
NM_001844.5(COL2A1):c.4320A>T (p.Lys1440Asn)
NM_001844.5(COL2A1):c.4323_4324del (p.Thr1442fs) rs2136502670
NM_001844.5(COL2A1):c.4325C>A (p.Thr1442Asn) rs750624540
NM_001844.5(COL2A1):c.4326_4330delinsTGTTTCT (p.Gly1443fs) rs2136502573
NM_001844.5(COL2A1):c.4328del (p.Gly1443fs) rs1555164232
NM_001844.5(COL2A1):c.4340A>G (p.Lys1447Arg)
NM_001844.5(COL2A1):c.4343C>T (p.Thr1448Ile)
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val) rs113238468
NM_001844.5(COL2A1):c.4351G>A (p.Glu1451Lys)
NM_001844.5(COL2A1):c.4352A>G (p.Glu1451Gly)
NM_001844.5(COL2A1):c.4355A>G (p.Tyr1452Cys)
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.4370C>G (p.Thr1457Ser)
NM_001844.5(COL2A1):c.4378C>T (p.Leu1460Phe)
NM_001844.5(COL2A1):c.437del (p.Pro146fs)
NM_001844.5(COL2A1):c.4380C>G (p.Leu1460=)
NM_001844.5(COL2A1):c.4380C>T (p.Leu1460=)
NM_001844.5(COL2A1):c.4386C>G (p.Ile1462Met)
NM_001844.5(COL2A1):c.4387A>G (p.Ile1463Val) rs1490116358
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del) rs527236145
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) rs1224083058
NM_001844.5(COL2A1):c.4392C>T (p.Asp1464=)
NM_001844.5(COL2A1):c.4396_4397delinsTT (p.Ala1466Leu)
NM_001844.5(COL2A1):c.4397C>A (p.Ala1466Glu) rs1938536335
NM_001844.5(COL2A1):c.4397C>T (p.Ala1466Val)
NM_001844.5(COL2A1):c.4405G>T (p.Asp1469Tyr) rs2136502090
NM_001844.5(COL2A1):c.4408A>G (p.Ile1470Val)
NM_001844.5(COL2A1):c.4409T>C (p.Ile1470Thr) rs1938534876
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001844.5(COL2A1):c.4415G>A (p.Gly1472Glu) rs773418634
NM_001844.5(COL2A1):c.441A>G (p.Gly147=) rs200041244
NM_001844.5(COL2A1):c.4420G>A (p.Glu1474Lys) rs540750398
NM_001844.5(COL2A1):c.4429T>C (p.Phe1477Leu) rs2136501824
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) rs1414146646
NM_001844.5(COL2A1):c.4443dup (p.Gly1482fs)
NM_001844.5(COL2A1):c.4444G>A (p.Gly1482Arg) rs2136501711
NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs) rs794727761
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001844.5(COL2A1):c.4455CTT[1] (p.Phe1486del)
NM_001844.5(COL2A1):c.4459T>A (p.Leu1487Met)
NM_001844.5(COL2A1):c.4462T>A (p.Ter1488Lys)
NM_001844.5(COL2A1):c.4462T>C (p.Ter1488Gln)
NM_001844.5(COL2A1):c.4462T>G (p.Ter1488Glu)
NM_001844.5(COL2A1):c.4463A>C (p.Ter1488Ser)
NM_001844.5(COL2A1):c.450C>G (p.Gly150=)
NM_001844.5(COL2A1):c.451A>G (p.Arg151Gly)
NM_001844.5(COL2A1):c.451A>T (p.Arg151Ter)
NM_001844.5(COL2A1):c.452G>C (p.Arg151Thr)
NM_001844.5(COL2A1):c.456T>C (p.Asp152=)
NM_001844.5(COL2A1):c.460G>T (p.Glu154Ter) rs1228018976
NM_001844.5(COL2A1):c.460_461del (p.Glu154fs)
NM_001844.5(COL2A1):c.466G>A (p.Gly156Arg) rs2136626415
NM_001844.5(COL2A1):c.469A>G (p.Thr157Ala)
NM_001844.5(COL2A1):c.472C>T (p.Pro158Ser) rs2136626342
NM_001844.5(COL2A1):c.474T>C (p.Pro158=) rs2136626332
NM_001844.5(COL2A1):c.478A>C (p.Asn160His)
NM_001844.5(COL2A1):c.485del (p.Gly162fs) rs2136626297
NM_001844.5(COL2A1):c.486C>A (p.Gly162=)
NM_001844.5(COL2A1):c.490C>T (p.Pro164Ser)
NM_001844.5(COL2A1):c.491del (p.Pro164fs) rs1592235241
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.492del (p.Gly165fs) rs2136626176
NM_001844.5(COL2A1):c.493G>C (p.Gly165Arg)
NM_001844.5(COL2A1):c.497C>T (p.Pro166Leu)
NM_001844.5(COL2A1):c.498T>A (p.Pro166=)
NM_001844.5(COL2A1):c.498_515del (p.163PPG[2]) rs2136625933
NM_001844.5(COL2A1):c.501C>A (p.Pro167=) rs768549401
NM_001844.5(COL2A1):c.504C>T (p.Gly168=) rs3737548
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.506CCCCTGGTC[3] (p.Gly174_Leu175insProProGly)
NM_001844.5(COL2A1):c.509del (p.Pro170fs) rs1940022093
NM_001844.5(COL2A1):c.509dup (p.Gly171fs) rs1940022093
NM_001844.5(COL2A1):c.510del (p.Gly171fs) rs2136625993
NM_001844.5(COL2A1):c.511_512delinsCT (p.Gly171Leu) rs1555169086
NM_001844.5(COL2A1):c.514C>G (p.Pro172Ala)
NM_001844.5(COL2A1):c.518dup (p.Gly174fs)
NM_001844.5(COL2A1):c.519T>C (p.Pro173=)
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001844.5(COL2A1):c.519dup (p.Gly174fs) rs2136625913
NM_001844.5(COL2A1):c.51C>T (p.Val17=) rs538730273
NM_001844.5(COL2A1):c.531+18C>T
NM_001844.5(COL2A1):c.531+19C>G rs2136625752
NM_001844.5(COL2A1):c.531+1G>A
NM_001844.5(COL2A1):c.531+20A>G
NM_001844.5(COL2A1):c.531+4A>T
NM_001844.5(COL2A1):c.531+9C>T
NM_001844.5(COL2A1):c.532-17G>A
NM_001844.5(COL2A1):c.532-17G>T
NM_001844.5(COL2A1):c.532-19T>C
NM_001844.5(COL2A1):c.532-20G>A
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.534del (p.Phe179fs)
NM_001844.5(COL2A1):c.540T>C (p.Ala180=)
NM_001844.5(COL2A1):c.542C>T (p.Ala181Val) rs2136622365
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter) rs886041843
NM_001844.5(COL2A1):c.550G>T (p.Ala184Ser)
NM_001844.5(COL2A1):c.553GGA[1] (p.Gly186del) rs1173263767
NM_001844.5(COL2A1):c.570G>A (p.Lys190=)
NM_001844.5(COL2A1):c.581C>T (p.Ala194Val) rs2136622114
NM_001844.5(COL2A1):c.589G>A (p.Gly197Arg) rs2136622066
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu)
NM_001844.5(COL2A1):c.606A>G (p.Pro202=)
NM_001844.5(COL2A1):c.609+10G>T
NM_001844.5(COL2A1):c.609+13A>G
NM_001844.5(COL2A1):c.609+15T>C
NM_001844.5(COL2A1):c.610-16_610-15del rs758007282
NM_001844.5(COL2A1):c.610-17_617del rs2136619163
NM_001844.5(COL2A1):c.610-5T>A
NM_001844.5(COL2A1):c.610-5T>C
NM_001844.5(COL2A1):c.610-6A>T
NM_001844.5(COL2A1):c.610-8C>A
NM_001844.5(COL2A1):c.610G>C (p.Gly204Arg) rs2136619174
NM_001844.5(COL2A1):c.611G>A (p.Gly204Asp)
NM_001844.5(COL2A1):c.612C>T (p.Gly204=)
NM_001844.5(COL2A1):c.613C>T (p.Pro205Ser)
NM_001844.5(COL2A1):c.618G>A (p.Met206Ile)
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg) rs869312907
NM_001844.5(COL2A1):c.619G>C (p.Gly207Arg) rs869312907
NM_001844.5(COL2A1):c.61C>T (p.Leu21Phe)
NM_001844.5(COL2A1):c.622C>T (p.Pro208Ser)
NM_001844.5(COL2A1):c.623C>T (p.Pro208Leu) rs1049536561
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
NM_001844.5(COL2A1):c.627A>G (p.Arg209=)
NM_001844.5(COL2A1):c.628G>A (p.Gly210Arg)
NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser) rs1565693325
NM_001844.5(COL2A1):c.635dup (p.Gly213fs) rs1939938528
NM_001844.5(COL2A1):c.642T>C (p.Pro214=)
NM_001844.5(COL2A1):c.643G>A (p.Ala215Thr)
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) rs766480693
NM_001844.5(COL2A1):c.644C>T (p.Ala215Val)
NM_001844.5(COL2A1):c.646G>T (p.Gly216Cys)
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp) rs1064794264
NM_001844.5(COL2A1):c.64C>A (p.Arg22=)
NM_001844.5(COL2A1):c.651T>C (p.Ala217=)
NM_001844.5(COL2A1):c.654+12C>T rs2136618935
NM_001844.5(COL2A1):c.654+13A>G
NM_001844.5(COL2A1):c.654+15T>A
NM_001844.5(COL2A1):c.654+1G>A rs2136618972
NM_001844.5(COL2A1):c.654+5G>T rs2136618948
NM_001844.5(COL2A1):c.655-18C>A rs777588788
NM_001844.5(COL2A1):c.655-18C>T
NM_001844.5(COL2A1):c.655-1G>C rs1555168840
NM_001844.5(COL2A1):c.655-2A>C rs2136618395
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.656G>A (p.Gly219Glu)
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
NM_001844.5(COL2A1):c.661del (p.Gln221fs)
NM_001844.5(COL2A1):c.664G>C (p.Gly222Arg)
NM_001844.5(COL2A1):c.672A>G (p.Gln224=)
NM_001844.5(COL2A1):c.679C>G (p.Pro227Ala)
NM_001844.5(COL2A1):c.683G>A (p.Gly228Asp) rs2136618285
NM_001844.5(COL2A1):c.686AACCTGGTG[1] (p.229EPG[1])
NM_001844.5(COL2A1):c.686AACCTGGTG[3] (p.Gly234_Val235insGluProGly)
NM_001844.5(COL2A1):c.689C>G (p.Pro230Arg)
NM_001844.5(COL2A1):c.6dup (p.Arg3fs)
NM_001844.5(COL2A1):c.701G>A (p.Gly234Asp)
NM_001844.5(COL2A1):c.703G>T (p.Val235Phe)
NM_001844.5(COL2A1):c.708+15G>A
NM_001844.5(COL2A1):c.708+16G>A
NM_001844.5(COL2A1):c.708+2_708+3del rs2136618158
NM_001844.5(COL2A1):c.709-13C>T
NM_001844.5(COL2A1):c.709-16C>A rs1434955965
NM_001844.5(COL2A1):c.709-1G>A rs2136616554
NM_001844.5(COL2A1):c.709-1G>C rs2136616554
NM_001844.5(COL2A1):c.709-7T>C rs2136616573
NM_001844.5(COL2A1):c.711T>C (p.Gly237=)
NM_001844.5(COL2A1):c.714dup (p.Met239fs) rs886043934
NM_001844.5(COL2A1):c.715A>G (p.Met239Val) rs1350339086
NM_001844.5(COL2A1):c.717G>A (p.Met239Ile)
NM_001844.5(COL2A1):c.717G>C (p.Met239Ile)
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp) rs1592232040
NM_001844.5(COL2A1):c.720T>A (p.Gly240=)
NM_001844.5(COL2A1):c.728G>T (p.Gly243Val) rs2136616399
NM_001844.5(COL2A1):c.733C>T (p.Pro245Ser)
NM_001844.5(COL2A1):c.733_753del (p.Pro245_Pro251del) rs2136616143
NM_001844.5(COL2A1):c.73G>A (p.Gly25Ser) rs1940369024
NM_001844.5(COL2A1):c.743C>T (p.Pro248Leu) rs760132838
NM_001844.5(COL2A1):c.743del (p.Pro248fs)
NM_001844.5(COL2A1):c.744T>G (p.Pro248=) rs2136616217
NM_001844.5(COL2A1):c.74G>C (p.Gly25Ala) rs1940368906
NM_001844.5(COL2A1):c.762+12C>T
NM_001844.5(COL2A1):c.762+1G>A rs794727026
NM_001844.5(COL2A1):c.762+20_762+21delinsAC rs2136615924
NM_001844.5(COL2A1):c.762+5G>A
NM_001844.5(COL2A1):c.762+8T>C rs1360567173
NM_001844.5(COL2A1):c.763-19TC[4]
NM_001844.5(COL2A1):c.763-19TC[5] rs139162796
NM_001844.5(COL2A1):c.763-19TC[7] rs139162796
NM_001844.5(COL2A1):c.763-4T>G
NM_001844.5(COL2A1):c.763-5T>A rs2136612715
NM_001844.5(COL2A1):c.763-7C>T
NM_001844.5(COL2A1):c.763G>A (p.Gly255Ser) rs2136612683
NM_001844.5(COL2A1):c.767A>G (p.Glu256Gly) rs2136612672
NM_001844.5(COL2A1):c.76C>T (p.Gln26Ter)
NM_001844.5(COL2A1):c.770C>G (p.Ala257Gly)
NM_001844.5(COL2A1):c.781G>T (p.Gly261Ter) rs2136612635
NM_001844.5(COL2A1):c.785A>G (p.Lys262Arg)
NM_001844.5(COL2A1):c.796A>G (p.Arg266Gly)
NM_001844.5(COL2A1):c.7C>A (p.Arg3Ser)
NM_001844.5(COL2A1):c.805C>T (p.Pro269Ser) rs2136612454
NM_001844.5(COL2A1):c.813T>C (p.Pro271=)
NM_001844.5(COL2A1):c.814C>T (p.Gln272Ter)
NM_001844.5(COL2A1):c.816+12C>G rs1438234538
NM_001844.5(COL2A1):c.816+4A>C rs754219474
NM_001844.5(COL2A1):c.816+6C>A rs766892635
NM_001844.5(COL2A1):c.816+8C>T rs1592230791
NM_001844.5(COL2A1):c.817-19C>T rs1431355990
NM_001844.5(COL2A1):c.817-1G>C
NM_001844.5(COL2A1):c.817-2A>C rs2136610697
NM_001844.5(COL2A1):c.817-5T>G
NM_001844.5(COL2A1):c.817-6T>G rs1555168542
NM_001844.5(COL2A1):c.817-9G>A
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.824G>A (p.Arg275His)
NM_001844.5(COL2A1):c.827G>A (p.Gly276Asp)
NM_001844.5(COL2A1):c.827del (p.Gly276fs)
NM_001844.5(COL2A1):c.833C>T (p.Pro278Leu)
NM_001844.5(COL2A1):c.835G>A (p.Gly279Arg)
NM_001844.5(COL2A1):c.835G>T (p.Gly279Ter) rs2136610618
NM_001844.5(COL2A1):c.837A>T (p.Gly279=)
NM_001844.5(COL2A1):c.840C>G (p.Thr280=) rs574159923
NM_001844.5(COL2A1):c.846C>T (p.Gly282=)
NM_001844.5(COL2A1):c.847C>T (p.Leu283Phe)
NM_001844.5(COL2A1):c.85+10C>A rs769941617
NM_001844.5(COL2A1):c.85+11C>T rs2136652521
NM_001844.5(COL2A1):c.85+13C>T
NM_001844.5(COL2A1):c.85+14C>G
NM_001844.5(COL2A1):c.85+15G>A
NM_001844.5(COL2A1):c.85+17_85+18delinsTG
NM_001844.5(COL2A1):c.85+1G>A rs727503882
NM_001844.5(COL2A1):c.85+1G>C rs727503882
NM_001844.5(COL2A1):c.85+1G>T rs727503882
NM_001844.5(COL2A1):c.85+3A>G
NM_001844.5(COL2A1):c.85+5G>A rs2136652545
NM_001844.5(COL2A1):c.85+5G>T rs2136652545
NM_001844.5(COL2A1):c.856G>A (p.Val286Ile)
NM_001844.5(COL2A1):c.857T>C (p.Val286Ala)
NM_001844.5(COL2A1):c.85C>T (p.Gln29Ter) rs1940368506
NM_001844.5(COL2A1):c.86-11C>A rs1940164478
NM_001844.5(COL2A1):c.86-14C>A rs745469244
NM_001844.5(COL2A1):c.86-17C>T rs778074330
NM_001844.5(COL2A1):c.86-18T>A
NM_001844.5(COL2A1):c.86-1G>A
NM_001844.5(COL2A1):c.86-1G>C
NM_001844.5(COL2A1):c.86-46C>G
NM_001844.5(COL2A1):c.86-50C>T rs183224734
NM_001844.5(COL2A1):c.86-7G>A rs2136637630
NM_001844.5(COL2A1):c.86-8T>A
NM_001844.5(COL2A1):c.86-8T>C rs1168355361
NM_001844.5(COL2A1):c.863G>A (p.Gly288Asp)
NM_001844.5(COL2A1):c.868A>G (p.Arg290Gly)
NM_001844.5(COL2A1):c.870+13G>T
NM_001844.5(COL2A1):c.870+19A>C
NM_001844.5(COL2A1):c.870+1G>A rs2136610457
NM_001844.5(COL2A1):c.870+20A>T rs2136610293
NM_001844.5(COL2A1):c.870+3A>G
NM_001844.5(COL2A1):c.870+4_870+7del rs2136610415
NM_001844.5(COL2A1):c.870+5G>A rs794727095
NM_001844.5(COL2A1):c.871-11T>C rs2136609768
NM_001844.5(COL2A1):c.871-15T>G rs1592229830
NM_001844.5(COL2A1):c.871-2del
NM_001844.5(COL2A1):c.871-6C>G
NM_001844.5(COL2A1):c.872G>T (p.Gly291Val)
NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn) rs1291318209
NM_001844.5(COL2A1):c.881G>T (p.Gly294Val)
NM_001844.5(COL2A1):c.883del (p.Leu295fs) rs1939822590
NM_001844.5(COL2A1):c.887A>G (p.Asp296Gly) rs2136609666
NM_001844.5(COL2A1):c.889G>A (p.Gly297Ser)
NM_001844.5(COL2A1):c.890G>A (p.Gly297Asp)
NM_001844.5(COL2A1):c.894del (p.Lys299fs)
NM_001844.5(COL2A1):c.897G>A (p.Lys299=) rs1592229736
NM_001844.5(COL2A1):c.897G>C (p.Lys299Asn)
NM_001844.5(COL2A1):c.899G>A (p.Gly300Glu)
NM_001844.5(COL2A1):c.903G>C (p.Glu301Asp)
NM_001844.5(COL2A1):c.903G>T (p.Glu301Asp) rs1939821446
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001844.5(COL2A1):c.906_924+9del rs2136609285
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) rs121912877
NM_001844.5(COL2A1):c.908G>T (p.Gly303Val)
NM_001844.5(COL2A1):c.910G>T (p.Ala304Ser) rs984944183
NM_001844.5(COL2A1):c.917G>A (p.Gly306Asp) rs2136609413
NM_001844.5(COL2A1):c.919G>A (p.Val307Met) rs2136609377
NM_001844.5(COL2A1):c.91G>A (p.Ala31Thr)
NM_001844.5(COL2A1):c.924+19C>G
NM_001844.5(COL2A1):c.924+19del
NM_001844.5(COL2A1):c.924+20A>G
NM_001844.5(COL2A1):c.924+2T>G
NM_001844.5(COL2A1):c.925-14C>T rs769972563
NM_001844.5(COL2A1):c.925-49C>A rs41317905
NM_001844.5(COL2A1):c.925-9T>C
NM_001844.5(COL2A1):c.926G>A (p.Gly309Asp) rs2136608011
NM_001844.5(COL2A1):c.930G>C (p.Glu310Asp)
NM_001844.5(COL2A1):c.930dup (p.Ser311fs)
NM_001844.5(COL2A1):c.932G>A (p.Ser311Asn) rs2136607964
NM_001844.5(COL2A1):c.946G>A (p.Glu316Lys)
NM_001844.5(COL2A1):c.94G>A (p.Gly32Ser) rs779475416
NM_001844.5(COL2A1):c.951C>T (p.Asn317=)
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894
NM_001844.5(COL2A1):c.953G>T (p.Gly318Val) rs2136607793
NM_001844.5(COL2A1):c.964C>T (p.Pro322Ser)
NM_001844.5(COL2A1):c.967A>G (p.Met323Val)
NM_001844.5(COL2A1):c.969+10G>A
NM_001844.5(COL2A1):c.969+11A>G
NM_001844.5(COL2A1):c.969+17T>C
NM_001844.5(COL2A1):c.970-14G>A
NM_001844.5(COL2A1):c.970-1G>A
NM_001844.5(COL2A1):c.970-2A>G
NM_001844.5(COL2A1):c.970-5T>C rs2136605096
NM_001844.5(COL2A1):c.970-7G>A
NM_001844.5(COL2A1):c.970-9G>T rs2136605147
NM_001844.5(COL2A1):c.972T>C (p.Gly324=) rs2136605039
NM_001844.5(COL2A1):c.972T>G (p.Gly324=) rs2136605039
NM_001844.5(COL2A1):c.977G>A (p.Arg326His)
NM_001844.5(COL2A1):c.980del (p.Gly327fs)
NM_001844.5(COL2A1):c.982C>T (p.Leu328=)
NM_001844.5(COL2A1):c.988G>A (p.Gly330Ser) rs2136604937
NM_001844.5(COL2A1):c.990T>C (p.Gly330=)
NM_001844.5(COL2A1):c.990_991del (p.Glu331fs)
NM_001844.5(COL2A1):c.992A>G (p.Glu331Gly)
NM_001844.5(COL2A1):c.997G>A (p.Gly333Arg)
NM_001844.5(COL2A1):c.997G>C (p.Gly333Arg)
NM_001844.5(COL2A1):c.9C>T (p.Arg3=) rs2136652893

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