ClinVar Miner

Variants in gene COL2A1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2769 456 0 119 173 0 24 302

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 54 9 0 0
likely pathogenic 54 0 15 1 0
uncertain significance 9 15 0 150 35
likely benign 0 1 150 0 65
benign 0 0 35 65 0

All variants with conflicting interpretations #

Total variants: 302
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.04953
NM_001844.4(COL2A1):c.-187G>A rs41317877 0.02510
NM_001844.5(COL2A1):c.532-27T>A rs41317883 0.02397
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01828
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001844.5(COL2A1):c.2356-111G>A rs41263857 0.00983
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00709
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00422
NM_001844.5(COL2A1):c.4449G>A (p.Pro1483=) rs41272771 0.00330
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00272
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00271
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.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 0.00130
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00121
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00105
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936 0.00077
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.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00048
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.1266+19del rs41317917 0.00039
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser) rs200882049 0.00031
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00028
NM_001844.5(COL2A1):c.3235G>A (p.Ala1079Thr) rs143363942 0.00026
NM_001844.5(COL2A1):c.762+20C>A rs199807767 0.00026
NM_001844.5(COL2A1):c.655-17C>T rs372454816 0.00024
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00023
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) rs141944722 0.00023
NM_001844.5(COL2A1):c.1581+16G>A rs182598943 0.00022
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00021
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00015
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 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.2382T>A (p.Pro794=) rs373352689 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.3561T>G (p.Pro1187=) rs536885536 0.00011
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu) rs371974287 0.00011
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) rs41272767 0.00011
NM_001844.5(COL2A1):c.1996-10C>T rs144804336 0.00010
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001844.5(COL2A1):c.3843C>T (p.Arg1281=) rs752970787 0.00009
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg) rs765855138 0.00008
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922 0.00008
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys) rs144572461 0.00008
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00008
NM_001844.5(COL2A1):c.1738G>T (p.Ala580Ser) rs146604807 0.00007
NM_001844.5(COL2A1):c.2463G>A (p.Pro821=) rs769766820 0.00007
NM_001844.5(COL2A1):c.3598-14G>A rs375342062 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.410G>A (p.Arg137His) rs201675352 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.2711G>A (p.Arg904His) rs201544025 0.00006
NM_001844.5(COL2A1):c.3435+18C>T rs375024988 0.00006
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His) rs754487319 0.00006
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) rs775754967 0.00005
NM_001844.5(COL2A1):c.1680+8G>T rs754310324 0.00005
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile) rs368583168 0.00005
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 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.1018G>A (p.Ala340Thr) rs762355724 0.00004
NM_001844.5(COL2A1):c.1420-13T>C rs781084068 0.00004
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala) rs376641474 0.00004
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser) rs1306517572 0.00004
NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met) rs199642249 0.00004
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln) rs201956851 0.00004
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His) rs763097721 0.00004
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser) rs200621622 0.00004
NM_001844.5(COL2A1):c.528T>A (p.Gly176=) rs567132968 0.00004
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu) rs774081386 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=) rs781062223 0.00003
NM_001844.5(COL2A1):c.2302-3C>T rs895256869 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile) rs759822181 0.00003
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser) rs769590506 0.00003
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=) rs555904044 0.00003
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 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.4250A>G (p.Asn1417Ser) rs537186508 0.00003
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) rs554488169 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.580G>A (p.Ala194Thr) rs371445823 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001844.5(COL2A1):c.816+6C>T rs766892635 0.00003
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00003
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln) rs765231668 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.157C>G (p.Arg53Gly) rs776744207 0.00002
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=) rs755517458 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.247G>A (p.Gly83Arg) rs762911032 0.00002
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) rs780375782 0.00002
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val) rs556788032 0.00002
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) rs748248022 0.00002
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys) rs762357071 0.00002
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln) rs745349011 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu) rs200549186 0.00002
NM_001844.5(COL2A1):c.-2C>A rs1258409551 0.00001
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser) rs757504416 0.00001
NM_001844.5(COL2A1):c.1122+4C>T rs1041494793 0.00001
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser) rs1045330263 0.00001
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg) rs1064793352 0.00001
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala) rs557340983 0.00001
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser) rs945234297 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.1819C>T (p.Pro607Ser) rs763003390 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met) rs751036439 0.00001
NM_001844.5(COL2A1):c.2129C>T (p.Pro710Leu) rs747446924 0.00001
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser) rs1362360030 0.00001
NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg) rs1252045461 0.00001
NM_001844.5(COL2A1):c.2219C>A (p.Pro740His) rs774819000 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.2309T>G (p.Val770Gly) rs767686686 0.00001
NM_001844.5(COL2A1):c.2416G>T (p.Val806Phe) rs548481093 0.00001
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser) rs770043048 0.00001
NM_001844.5(COL2A1):c.2632A>G (p.Thr878Ala) rs147760401 0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala) rs1252498034 0.00001
NM_001844.5(COL2A1):c.2756C>T (p.Pro919Leu) rs768207318 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.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) rs566132150 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.3083C>T (p.Thr1028Met) rs770907704 0.00001
NM_001844.5(COL2A1):c.3106C>G (p.Arg1036Gly) rs748459670 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.3215C>T (p.Pro1072Leu) rs1489240592 0.00001
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser) rs753709490 0.00001
NM_001844.5(COL2A1):c.326C>G (p.Pro109Arg) rs140120720 0.00001
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) rs543083152 0.00001
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) rs776292672 0.00001
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu) rs777669076 0.00001
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) rs779252535 0.00001
NM_001844.5(COL2A1):c.3600T>G (p.Gly1200=) rs1284336050 0.00001
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser) rs886626700 0.00001
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys) rs778838205 0.00001
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg) rs546672421 0.00001
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln) rs375448469 0.00001
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr) rs1555164561 0.00001
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00001
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn) rs763777663 0.00001
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr) rs775279845 0.00001
NM_001844.5(COL2A1):c.4102C>T (p.Pro1368Ser) rs775650170 0.00001
NM_001844.5(COL2A1):c.4115A>G (p.Asn1372Ser) rs771399441 0.00001
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=) rs1284508374 0.00001
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys) rs759583931 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser) rs1181216326 0.00001
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His) rs777416478 0.00001
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) rs1414146646 0.00001
NM_001844.5(COL2A1):c.591A>T (p.Gly197=) rs747274874 0.00001
NM_001844.5(COL2A1):c.906G>A (p.Ala302=) rs760573262 0.00001
NM_001844.5(COL2A1):c.964C>T (p.Pro322Ser) rs200696675 0.00001
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) rs755043901
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg) rs2540187904
NM_001844.5(COL2A1):c.1023+3_1023+6del rs2540165425
NM_001844.5(COL2A1):c.1023+4A>G rs1939770285
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1095T>G (p.Pro365=) rs2136587657
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) rs2136579628
NM_001844.5(COL2A1):c.1148_1165dup (p.Arg383_Ala388dup) rs2136579443
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser) rs2540151788
NM_001844.5(COL2A1):c.1286G>A (p.Gly429Asp) rs2540151727
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.135T>A (p.Asp45Glu) rs375778172
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) rs2136571484
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1475G>A (p.Gly492Asp) rs121912881
NM_001844.5(COL2A1):c.1480C>T (p.Arg494Cys) rs1353156898
NM_001844.5(COL2A1):c.1501G>A (p.Gly501Arg) rs866502805
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062
NM_001844.5(COL2A1):c.1527+135G>A rs1592218346
NM_001844.5(COL2A1):c.1527+4A>C rs2136570708
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1680+8_1680+9delinsTA rs2136567481
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) rs794727462
NM_001844.5(COL2A1):c.1888-2A>G rs2540141840
NM_001844.5(COL2A1):c.1903G>C (p.Asp635His)
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.1941+1G>A rs1555166808
NM_001844.5(COL2A1):c.1995+1G>T rs2136556600
NM_001844.5(COL2A1):c.1996-3T>C rs2540138559
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) rs2136555177
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2094_2094+1dup rs2136552575
NM_001844.5(COL2A1):c.2095-1G>A rs2540136240
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val) rs2136548974
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser) rs2136546628
NM_001844.5(COL2A1):c.2453G>T (p.Arg818Leu) rs376834551
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala) rs745794356
NM_001844.5(COL2A1):c.2490del (p.Gly831fs) rs1273496827
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) rs1064796660
NM_001844.5(COL2A1):c.2501G>A (p.Gly834Glu)
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) rs886042043
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val) rs760745824
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) rs1271505111
NM_001844.5(COL2A1):c.2734-18C>T rs570573455
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp) rs886041914
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3004-1G>A rs2136525334
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser) rs751205887
NM_001844.5(COL2A1):c.3165+4_3165+7del rs773138674
NM_001844.5(COL2A1):c.3172C>T (p.Arg1058Cys) rs148350640
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=) rs746453469
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn) rs756125516
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del) rs2136521036
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs) rs2540107709
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp) rs374036874
NM_001844.5(COL2A1):c.342+5G>A rs2136629166
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala) rs139720910
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) rs2136516779
NM_001844.5(COL2A1):c.3490-15CT[4] rs780110289
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg) rs121912891
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) rs147750391
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) rs1938686073
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr) rs760093841
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu) rs377079894
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.3925G>A (p.Asp1309Asn) rs2540097718
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=) rs2540097285
NM_001844.5(COL2A1):c.4007G>A (p.Trp1336Ter)
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile) rs200621622
NM_001844.5(COL2A1):c.4075-1G>C rs2136506437
NM_001844.5(COL2A1):c.4092C>T (p.Asp1364=) rs766131966
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) rs1224083058
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr) rs770027510
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001844.5(COL2A1):c.531+1G>A rs2540179907
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu) rs1203369669
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) rs766480693
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp) rs1064794264
NM_001844.5(COL2A1):c.763-19TC[5] rs139162796
NM_001844.5(COL2A1):c.870+5G>A rs794727095
NM_001844.5(COL2A1):c.872G>T (p.Gly291Val) rs2540168609
NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn) rs1291318209
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001844.5(COL2A1):c.970-5T>C rs2136605096

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