ClinVar Miner

List of variants in gene COL2A1 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 513
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00016
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp) rs374082762 0.00010
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001844.5(COL2A1):c.3644G>C (p.Gly1215Ala) rs775874428 0.00009
NM_001844.5(COL2A1):c.2463G>A (p.Pro821=) rs769766820 0.00007
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) rs775754967 0.00006
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.2655A>T (p.Gly885=) rs775834995 0.00004
NM_001844.5(COL2A1):c.350G>C (p.Gly117Ala) rs201192882 0.00004
NM_001844.5(COL2A1):c.816+6C>T rs766892635 0.00004
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00004
NM_001844.5(COL2A1):c.1000C>T (p.Arg334Trp) rs372264296 0.00003
NM_001844.5(COL2A1):c.1365G>A (p.Thr455=) rs1477075559 0.00003
NM_001844.5(COL2A1):c.2302-3C>T rs895256869 0.00003
NM_001844.5(COL2A1):c.2462C>T (p.Pro821Leu) rs201963052 0.00003
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) rs748248022 0.00003
NM_001844.5(COL2A1):c.1067C>T (p.Pro356Leu) rs184529965 0.00002
NM_001844.5(COL2A1):c.1175G>A (p.Arg392His) rs201953356 0.00002
NM_001844.5(COL2A1):c.1523A>G (p.Glu508Gly) rs768225873 0.00002
NM_001844.5(COL2A1):c.1681-6A>G rs778019716 0.00002
NM_001844.5(COL2A1):c.2063A>G (p.Glu688Gly) rs750867405 0.00002
NM_001844.5(COL2A1):c.2126C>T (p.Ser709Phe) rs771198337 0.00002
NM_001844.5(COL2A1):c.2403C>T (p.Gly801=) rs145766709 0.00002
NM_001844.5(COL2A1):c.2463+5G>A rs747075073 0.00002
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile) rs759822181 0.00002
NM_001844.5(COL2A1):c.310G>A (p.Gly104Arg) rs764210489 0.00002
NM_001844.5(COL2A1):c.3582C>T (p.Gly1194=) rs566528045 0.00002
NM_001844.5(COL2A1):c.530G>A (p.Gly177Glu) rs764690054 0.00002
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu) rs200549186 0.00002
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.1148G>A (p.Arg383His) rs1417502139 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.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.1734+3A>G rs1057521852 0.00001
NM_001844.5(COL2A1):c.1833C>T (p.Asn611=) rs545120998 0.00001
NM_001844.5(COL2A1):c.2071G>A (p.Ala691Thr) rs1250885285 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.2156G>A (p.Arg719His) rs535980544 0.00001
NM_001844.5(COL2A1):c.2193+6T>G rs1324792540 0.00001
NM_001844.5(COL2A1):c.2260G>A (p.Glu754Lys) rs1064796856 0.00001
NM_001844.5(COL2A1):c.2301+5G>A rs1335619157 0.00001
NM_001844.5(COL2A1):c.2551C>G (p.Gln851Glu) rs776408221 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 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.2812C>A (p.Pro938Thr) rs200772957 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.2993C>T (p.Pro998Leu) rs757449808 0.00001
NM_001844.5(COL2A1):c.3002C>T (p.Ser1001Leu) rs765898571 0.00001
NM_001844.5(COL2A1):c.3026C>T (p.Ala1009Val) rs1315629927 0.00001
NM_001844.5(COL2A1):c.3106C>G (p.Arg1036Gly) rs748459670 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.3173G>A (p.Arg1058His) rs774603840 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.3376G>A (p.Glu1126Lys) rs762592219 0.00001
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) rs776292672 0.00001
NM_001844.5(COL2A1):c.3425C>A (p.Pro1142His) rs1466253134 0.00001
NM_001844.5(COL2A1):c.347T>C (p.Val116Ala) rs779950053 0.00001
NM_001844.5(COL2A1):c.3637C>A (p.Pro1213Thr) rs886626700 0.00001
NM_001844.5(COL2A1):c.3656A>G (p.Asp1219Gly) rs751251798 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.4024A>G (p.Lys1342Glu) rs1480368696 0.00001
NM_001844.5(COL2A1):c.4274G>C (p.Gly1425Ala) rs989110731 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.4388T>C (p.Ile1463Thr) rs748077700 0.00001
NM_001844.5(COL2A1):c.4414G>T (p.Gly1472Trp) rs763352763 0.00001
NM_001844.5(COL2A1):c.518C>G (p.Pro173Arg) rs528081130 0.00001
NM_001844.5(COL2A1):c.538G>A (p.Ala180Thr) rs1592234056 0.00001
NM_001844.5(COL2A1):c.725G>A (p.Arg242His) rs1023703904 0.00001
NM_001844.5(COL2A1):c.760G>T (p.Asp254Tyr) rs1012776131 0.00001
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) rs1380248932 0.00001
NC_000012.11:g.(?_48380099)_(48380246_?)dup
NC_000012.11:g.(?_48390321)_(48391857_?)del
NM_001844.5(COL2A1):c.1023+7A>C
NM_001844.5(COL2A1):c.1024-3C>T
NM_001844.5(COL2A1):c.102T>G (p.Cys34Trp) rs2136637552
NM_001844.5(COL2A1):c.1057G>T (p.Ala353Ser) rs781554389
NM_001844.5(COL2A1):c.1068+5G>A rs1171878681
NM_001844.5(COL2A1):c.1068_1068+2dup
NM_001844.5(COL2A1):c.1069-16C>A
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.1135C>T (p.Pro379Ser)
NM_001844.5(COL2A1):c.113G>A (p.Gly38Glu)
NM_001844.5(COL2A1):c.1174C>T (p.Arg392Cys)
NM_001844.5(COL2A1):c.1180G>A (p.Glu394Lys) rs2136579298
NM_001844.5(COL2A1):c.1181A>T (p.Glu394Val)
NM_001844.5(COL2A1):c.1189A>G (p.Thr397Ala) rs2136579217
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.1221+5G>C rs1939497156
NM_001844.5(COL2A1):c.1221C>G (p.Ser407=)
NM_001844.5(COL2A1):c.1253C>A (p.Ala418Asp) rs2136577068
NM_001844.5(COL2A1):c.1266+2dup
NM_001844.5(COL2A1):c.126T>A (p.Asn42Lys)
NM_001844.5(COL2A1):c.1271C>T (p.Ala424Val)
NM_001844.5(COL2A1):c.127G>C (p.Asp43His)
NM_001844.5(COL2A1):c.1283C>T (p.Ala428Val)
NM_001844.5(COL2A1):c.1301C>A (p.Pro434His) rs1939466091
NM_001844.5(COL2A1):c.1306C>T (p.Pro436Ser)
NM_001844.5(COL2A1):c.1334C>G (p.Ala445Gly)
NM_001844.5(COL2A1):c.1336A>T (p.Thr446Ser)
NM_001844.5(COL2A1):c.1352C>G (p.Pro451Arg) rs766208636
NM_001844.5(COL2A1):c.1352C>T (p.Pro451Leu)
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+2dup rs2136575491
NM_001844.5(COL2A1):c.1392A>G (p.Lys464=) rs2136574082
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg) rs1064793352
NM_001844.5(COL2A1):c.140G>C (p.Trp47Ser)
NM_001844.5(COL2A1):c.1419+4A>G
NM_001844.5(COL2A1):c.1423C>A (p.Pro475Thr)
NM_001844.5(COL2A1):c.1423C>T (p.Pro475Ser)
NM_001844.5(COL2A1):c.1427C>T (p.Ala476Val)
NM_001844.5(COL2A1):c.1436A>C (p.Gln479Pro)
NM_001844.5(COL2A1):c.1480C>T (p.Arg494Cys)
NM_001844.5(COL2A1):c.1528-10G>A rs1939380163
NM_001844.5(COL2A1):c.1579A>G (p.Lys527Glu)
NM_001844.5(COL2A1):c.1581+3G>A
NM_001844.5(COL2A1):c.1588C>T (p.Pro530Ser)
NM_001844.5(COL2A1):c.1594G>C (p.Glu532Gln)
NM_001844.5(COL2A1):c.1598G>A (p.Arg533Gln)
NM_001844.5(COL2A1):c.1621C>T (p.Pro541Ser) rs2136567965
NM_001844.5(COL2A1):c.1630G>A (p.Ala544Thr) rs746870475
NM_001844.5(COL2A1):c.164G>A (p.Cys55Tyr)
NM_001844.5(COL2A1):c.1666C>T (p.Leu556Phe)
NM_001844.5(COL2A1):c.166G>A (p.Val56Ile) rs1940157547
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.1702G>A (p.Asp568Asn)
NM_001844.5(COL2A1):c.1703_1705dup (p.Asp568dup) rs2136566553
NM_001844.5(COL2A1):c.1716A>C (p.Gln572His)
NM_001844.5(COL2A1):c.1720A>C (p.Lys574Gln) rs2136566507
NM_001844.5(COL2A1):c.1732T>G (p.Ser578Ala)
NM_001844.5(COL2A1):c.1739C>A (p.Ala580Asp)
NM_001844.5(COL2A1):c.1751A>G (p.Asp584Gly)
NM_001844.5(COL2A1):c.1759C>T (p.Pro587Ser)
NM_001844.5(COL2A1):c.1765C>G (p.Pro589Ala)
NM_001844.5(COL2A1):c.1787G>A (p.Arg596His) rs1057524199
NM_001844.5(COL2A1):c.179G>C (p.Gly60Ala)
NM_001844.5(COL2A1):c.1832A>C (p.Asn611Thr) rs142492439
NM_001844.5(COL2A1):c.1833+2dup
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.1848A>C (p.Lys616Asn) rs1001585299
NM_001844.5(COL2A1):c.1876C>T (p.Pro626Ser)
NM_001844.5(COL2A1):c.1886G>A (p.Arg629Lys) rs1939280357
NM_001844.5(COL2A1):c.1887+5G>A
NM_001844.5(COL2A1):c.1913C>A (p.Thr638Lys) rs41263847
NM_001844.5(COL2A1):c.1919C>T (p.Ala640Val)
NM_001844.5(COL2A1):c.1928C>A (p.Pro643His)
NM_001844.5(COL2A1):c.1930C>A (p.Pro644Thr)
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) rs1940156255
NM_001844.5(COL2A1):c.1958G>A (p.Arg653Gln) rs1131691824
NM_001844.5(COL2A1):c.1963G>A (p.Glu655Lys)
NM_001844.5(COL2A1):c.1972G>A (p.Ala658Thr) rs2136556746
NM_001844.5(COL2A1):c.1990T>C (p.Phe664Leu) rs2136556644
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.1996-10C>A rs144804336
NM_001844.5(COL2A1):c.1996-3T>C
NM_001844.5(COL2A1):c.2003C>T (p.Pro668Leu) rs1259744514
NM_001844.5(COL2A1):c.2018C>T (p.Pro673Leu) rs570533789
NM_001844.5(COL2A1):c.2029_2030delinsAA (p.Gly677Asn) rs2136554903
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+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.204C>G (p.Ile68Met)
NM_001844.5(COL2A1):c.2053G>A (p.Val685Ile)
NM_001844.5(COL2A1):c.205T>C (p.Cys69Arg)
NM_001844.5(COL2A1):c.2072C>G (p.Ala691Gly)
NM_001844.5(COL2A1):c.2089C>T (p.Pro697Ser)
NM_001844.5(COL2A1):c.2094+3G>T
NM_001844.5(COL2A1):c.2094+5G>A
NM_001844.5(COL2A1):c.209A>G (p.Glu70Gly)
NM_001844.5(COL2A1):c.2102G>A (p.Arg701Gln)
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.2152C>T (p.Pro718Ser)
NM_001844.5(COL2A1):c.2156G>C (p.Arg719Pro) rs535980544
NM_001844.5(COL2A1):c.2165C>G (p.Pro722Arg) rs1939173724
NM_001844.5(COL2A1):c.2165C>T (p.Pro722Leu)
NM_001844.5(COL2A1):c.2188C>T (p.Pro730Ser) rs2136550915
NM_001844.5(COL2A1):c.2193+5G>C
NM_001844.5(COL2A1):c.2197G>A (p.Ala733Thr)
NM_001844.5(COL2A1):c.2198C>A (p.Ala733Glu) rs1939157535
NM_001844.5(COL2A1):c.2219C>G (p.Pro740Arg)
NM_001844.5(COL2A1):c.2219C>T (p.Pro740Leu)
NM_001844.5(COL2A1):c.222C>G (p.Asp74Glu)
NM_001844.5(COL2A1):c.224G>T (p.Cys75Phe) rs2136637051
NM_001844.5(COL2A1):c.2265G>T (p.Arg755Ser)
NM_001844.5(COL2A1):c.2281G>T (p.Ala761Ser)
NM_001844.5(COL2A1):c.2296G>A (p.Asp766Asn)
NM_001844.5(COL2A1):c.2301+2dup
NM_001844.5(COL2A1):c.2301+4A>T
NM_001844.5(COL2A1):c.230G>A (p.Ser77Asn)
NM_001844.5(COL2A1):c.233C>T (p.Pro78Leu)
NM_001844.5(COL2A1):c.2354G>A (p.Arg785Gln) rs759073173
NM_001844.5(COL2A1):c.2355+4del
NM_001844.5(COL2A1):c.2355+5G>T rs1555166294
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.2423C>T (p.Pro808Leu)
NM_001844.5(COL2A1):c.2426C>T (p.Pro809Leu)
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.244T>G (p.Phe82Val) rs2136636961
NM_001844.5(COL2A1):c.2452C>T (p.Arg818Cys) rs1345434851
NM_001844.5(COL2A1):c.2453G>A (p.Arg818His)
NM_001844.5(COL2A1):c.2463G>C (p.Pro821=)
NM_001844.5(COL2A1):c.2464-17_2464-16delinsTT
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.2486C>A (p.Pro829His)
NM_001844.5(COL2A1):c.248G>C (p.Gly83Ala)
NM_001844.5(COL2A1):c.2494C>G (p.Pro832Ala)
NM_001844.5(COL2A1):c.2506G>T (p.Ala836Ser)
NM_001844.5(COL2A1):c.2516C>T (p.Pro839Leu) rs1455812046
NM_001844.5(COL2A1):c.2518-3T>C rs1305461428
NM_001844.5(COL2A1):c.2518-3T>G
NM_001844.5(COL2A1):c.251A>G (p.Glu84Gly)
NM_001844.5(COL2A1):c.2570A>G (p.Lys857Arg) rs1939002524
NM_001844.5(COL2A1):c.25_26delinsTG (p.Thr9Trp) rs1131691546
NM_001844.5(COL2A1):c.2615C>G (p.Pro872Arg)
NM_001844.5(COL2A1):c.2620C>A (p.Pro874Thr) rs377198201
NM_001844.5(COL2A1):c.2629C>T (p.Pro877Ser) rs2136535139
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.2647C>T (p.Pro883Ser)
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln) rs2136534972
NM_001844.5(COL2A1):c.2665G>A (p.Ala889Thr)
NM_001844.5(COL2A1):c.2674C>T (p.Pro892Ser)
NM_001844.5(COL2A1):c.2675C>T (p.Pro892Leu) rs1160269578
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.2687C>T (p.Thr896Ile)
NM_001844.5(COL2A1):c.2701G>A (p.Ala901Thr)
NM_001844.5(COL2A1):c.2704G>C (p.Ala902Pro)
NM_001844.5(COL2A1):c.2711G>T (p.Arg904Leu)
NM_001844.5(COL2A1):c.2720C>A (p.Pro907His)
NM_001844.5(COL2A1):c.2720C>T (p.Pro907Leu)
NM_001844.5(COL2A1):c.2734-5_2734-3del
NM_001844.5(COL2A1):c.2739C>G (p.Asn913Lys)
NM_001844.5(COL2A1):c.274G>C (p.Asp92His)
NM_001844.5(COL2A1):c.2755C>G (p.Pro919Ala)
NM_001844.5(COL2A1):c.2759C>A (p.Pro920His)
NM_001844.5(COL2A1):c.2777A>T (p.Asp926Val)
NM_001844.5(COL2A1):c.2791G>C (p.Ala931Pro)
NM_001844.5(COL2A1):c.2800G>C (p.Asp934His) rs1350090082
NM_001844.5(COL2A1):c.2804G>A (p.Ser935Asn)
NM_001844.5(COL2A1):c.2809C>G (p.Pro937Ala)
NM_001844.5(COL2A1):c.2822C>T (p.Ala941Val) rs936065719
NM_001844.5(COL2A1):c.2837T>C (p.Leu946Pro) rs2136528046
NM_001844.5(COL2A1):c.2858C>T (p.Pro953Leu)
NM_001844.5(COL2A1):c.2863G>A (p.Glu955Lys)
NM_001844.5(COL2A1):c.2918C>A (p.Pro973His)
NM_001844.5(COL2A1):c.2939G>C (p.Arg980Thr) rs1457365714
NM_001844.5(COL2A1):c.2944A>G (p.Ile982Val)
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) rs121912895
NM_001844.5(COL2A1):c.2980T>C (p.Phe994Leu)
NM_001844.5(COL2A1):c.2998C>A (p.Pro1000Thr)
NM_001844.5(COL2A1):c.299C>G (p.Pro100Arg) rs763903953
NM_001844.5(COL2A1):c.3003+6T>A
NM_001844.5(COL2A1):c.3003G>A (p.Ser1001=)
NM_001844.5(COL2A1):c.3004-3C>T
NM_001844.5(COL2A1):c.3028C>A (p.Pro1010Thr)
NM_001844.5(COL2A1):c.3055C>T (p.Pro1019Ser)
NM_001844.5(COL2A1):c.3073C>T (p.Pro1025Ser)
NM_001844.5(COL2A1):c.3080T>C (p.Leu1027Pro) rs2136524904
NM_001844.5(COL2A1):c.3082A>T (p.Thr1028Ser)
NM_001844.5(COL2A1):c.309+5G>A
NM_001844.5(COL2A1):c.3107G>T (p.Arg1036Leu)
NM_001844.5(COL2A1):c.3111+13A>T
NM_001844.5(COL2A1):c.3117C>A (p.Ser1039Arg) rs1938799246
NM_001844.5(COL2A1):c.3133C>A (p.Pro1045Thr)
NM_001844.5(COL2A1):c.3137C>T (p.Pro1046Leu)
NM_001844.5(COL2A1):c.3165+3G>A
NM_001844.5(COL2A1):c.3165+4_3165+7del rs773138674
NM_001844.5(COL2A1):c.3166-3C>T rs937072086
NM_001844.5(COL2A1):c.3166-8C>T rs1555165207
NM_001844.5(COL2A1):c.3190G>T (p.Val1064Leu)
NM_001844.5(COL2A1):c.320G>C (p.Gly107Ala) rs1940054684
NM_001844.5(COL2A1):c.3214C>G (p.Pro1072Ala) rs955829877
NM_001844.5(COL2A1):c.3215C>A (p.Pro1072His)
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.326C>T (p.Pro109Leu)
NM_001844.5(COL2A1):c.3274-3C>T
NM_001844.5(COL2A1):c.3278C>T (p.Ala1093Val) rs2136520107
NM_001844.5(COL2A1):c.3286C>T (p.Pro1096Ser) rs761070916
NM_001844.5(COL2A1):c.3289A>G (p.Met1097Val)
NM_001844.5(COL2A1):c.3326A>C (p.Gln1109Pro) rs1055461266
NM_001844.5(COL2A1):c.3327+6T>C
NM_001844.5(COL2A1):c.3341C>T (p.Pro1114Leu)
NM_001844.5(COL2A1):c.3343A>G (p.Arg1115Gly)
NM_001844.5(COL2A1):c.3344G>C (p.Arg1115Thr)
NM_001844.5(COL2A1):c.335T>C (p.Ile112Thr)
NM_001844.5(COL2A1):c.339_340delinsTT (p.Lys113_Asp114delinsAsnTyr)
NM_001844.5(COL2A1):c.3404T>G (p.Phe1135Cys)
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+5del
NM_001844.5(COL2A1):c.342+8C>T
NM_001844.5(COL2A1):c.343-15G>A
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_001844.5(COL2A1):c.3435+5G>A
NM_001844.5(COL2A1):c.3435+83C>G rs2136517622
NM_001844.5(COL2A1):c.343A>G (p.Ile115Val)
NM_001844.5(COL2A1):c.3448G>T (p.Asp1150Tyr)
NM_001844.5(COL2A1):c.3478T>G (p.Ser1160Ala) rs2136516677
NM_001844.5(COL2A1):c.3489+3_3489+6del
NM_001844.5(COL2A1):c.3489+6T>C
NM_001844.5(COL2A1):c.3490-19C>G
NM_001844.5(COL2A1):c.3511C>G (p.Pro1171Ala) rs147750391
NM_001844.5(COL2A1):c.3538A>C (p.Ile1180Leu)
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu)
NM_001844.5(COL2A1):c.3541C>T (p.Pro1181Ser)
NM_001844.5(COL2A1):c.3560C>G (p.Pro1187Arg)
NM_001844.5(COL2A1):c.3568C>T (p.Arg1190Cys) rs1338267090
NM_001844.5(COL2A1):c.3569G>A (p.Arg1190His)
NM_001844.5(COL2A1):c.3583G>A (p.Glu1195Lys)
NM_001844.5(COL2A1):c.3598-3C>G rs1210989012
NM_001844.5(COL2A1):c.3631_3648dup (p.Pro1216_Gly1217insProGlyProProGlyPro)
NM_001844.5(COL2A1):c.3647C>G (p.Pro1216Arg) rs1418851351
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn) rs760093841
NM_001844.5(COL2A1):c.3659T>G (p.Met1220Arg) rs886049445
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.3694G>T (p.Gly1232Cys) rs1276202058
NM_001844.5(COL2A1):c.3701A>G (p.Asp1234Gly)
NM_001844.5(COL2A1):c.3703C>A (p.Pro1235Thr)
NM_001844.5(COL2A1):c.3704C>T (p.Pro1235Leu)
NM_001844.5(COL2A1):c.3707T>G (p.Leu1236Arg)
NM_001844.5(COL2A1):c.3721G>A (p.Ala1241Thr) rs1208388893
NM_001844.5(COL2A1):c.3722C>A (p.Ala1241Asp)
NM_001844.5(COL2A1):c.3724G>A (p.Asp1242Asn)
NM_001844.5(COL2A1):c.376G>A (p.Gly126Arg)
NM_001844.5(COL2A1):c.3770C>A (p.Ala1257Asp) rs1169999705
NM_001844.5(COL2A1):c.3782C>T (p.Ser1261Phe)
NM_001844.5(COL2A1):c.3784C>T (p.Leu1262Phe)
NM_001844.5(COL2A1):c.3797T>C (p.Ile1266Thr)
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.3827G>T (p.Arg1276Leu) rs142168567
NM_001844.5(COL2A1):c.3841C>T (p.Arg1281Cys)
NM_001844.5(COL2A1):c.3882G>T (p.Lys1294Asn) rs1938646610
NM_001844.5(COL2A1):c.3899T>C (p.Ile1300Thr)
NM_001844.5(COL2A1):c.389A>G (p.Glu130Gly)
NM_001844.5(COL2A1):c.3901G>C (p.Asp1301His)
NM_001844.5(COL2A1):c.3903C>A (p.Asp1301Glu) rs2136508859
NM_001844.5(COL2A1):c.3919A>G (p.Thr1307Ala)
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.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.3949A>G (p.Met1317Val)
NM_001844.5(COL2A1):c.3950T>A (p.Met1317Lys) rs1555164561
NM_001844.5(COL2A1):c.3965C>A (p.Thr1322Asn)
NM_001844.5(COL2A1):c.3976C>G (p.Pro1326Ala)
NM_001844.5(COL2A1):c.3994C>T (p.Pro1332Ser) rs2136508378
NM_001844.5(COL2A1):c.4006T>C (p.Trp1336Arg)
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.4027_4029del (p.Glu1343del) rs2136508179
NM_001844.5(COL2A1):c.4057A>G (p.Ile1353Val)
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile) rs200621622
NM_001844.5(COL2A1):c.4073A>G (p.His1358Arg)
NM_001844.5(COL2A1):c.4073A>T (p.His1358Leu)
NM_001844.5(COL2A1):c.4074+5G>A
NM_001844.5(COL2A1):c.4082A>G (p.Tyr1361Cys)
NM_001844.5(COL2A1):c.4091A>C (p.Asp1364Ala) rs2136506322
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>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.4135C>A (p.Arg1379Ser)
NM_001844.5(COL2A1):c.4157C>A (p.Ser1386Tyr)
NM_001844.5(COL2A1):c.416A>G (p.Asp139Gly) rs2136627532
NM_001844.5(COL2A1):c.4205A>T (p.Glu1402Val) rs1938575798
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.4232T>C (p.Leu1411Pro) rs2136505266
NM_001844.5(COL2A1):c.4235T>A (p.Leu1412His)
NM_001844.5(COL2A1):c.4259A>C (p.Glu1420Ala)
NM_001844.5(COL2A1):c.4268C>G (p.Ala1423Gly)
NM_001844.5(COL2A1):c.4281C>G (p.Ser1427Arg)
NM_001844.5(COL2A1):c.4315A>G (p.Thr1439Ala)
NM_001844.5(COL2A1):c.4317G>A (p.Thr1439=)
NM_001844.5(COL2A1):c.4317_4317+3dup
NM_001844.5(COL2A1):c.4320A>T (p.Lys1440Asn)
NM_001844.5(COL2A1):c.4325C>A (p.Thr1442Asn) rs750624540
NM_001844.5(COL2A1):c.4352A>G (p.Glu1451Gly)
NM_001844.5(COL2A1):c.4355A>G (p.Tyr1452Cys)
NM_001844.5(COL2A1):c.4370C>G (p.Thr1457Ser)
NM_001844.5(COL2A1):c.4378C>T (p.Leu1460Phe)
NM_001844.5(COL2A1):c.4386C>G (p.Ile1462Met)
NM_001844.5(COL2A1):c.4387A>G (p.Ile1463Val) rs1490116358
NM_001844.5(COL2A1):c.4396_4397delinsTT (p.Ala1466Leu)
NM_001844.5(COL2A1):c.4397C>A (p.Ala1466Glu) rs1938536335
NM_001844.5(COL2A1):c.4409T>C (p.Ile1470Thr) rs1938534876
NM_001844.5(COL2A1):c.4415G>A (p.Gly1472Glu) rs773418634
NM_001844.5(COL2A1):c.4429T>C (p.Phe1477Leu) rs2136501824
NM_001844.5(COL2A1):c.4444G>A (p.Gly1482Arg) rs2136501711
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.451A>G (p.Arg151Gly)
NM_001844.5(COL2A1):c.452G>C (p.Arg151Thr)
NM_001844.5(COL2A1):c.466G>A (p.Gly156Arg) rs2136626415
NM_001844.5(COL2A1):c.472C>T (p.Pro158Ser) rs2136626342
NM_001844.5(COL2A1):c.478A>C (p.Asn160His)
NM_001844.5(COL2A1):c.493G>C (p.Gly165Arg)
NM_001844.5(COL2A1):c.497C>T (p.Pro166Leu)
NM_001844.5(COL2A1):c.498_515del (p.163PPG[2]) rs2136625933
NM_001844.5(COL2A1):c.506CCCCTGGTC[3] (p.Gly174_Leu175insProProGly)
NM_001844.5(COL2A1):c.511_512delinsCT (p.Gly171Leu) rs1555169086
NM_001844.5(COL2A1):c.514C>G (p.Pro172Ala)
NM_001844.5(COL2A1):c.531+4A>T
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.553GGA[1] (p.Gly186del) rs1173263767
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.610-5T>A
NM_001844.5(COL2A1):c.610-8C>A
NM_001844.5(COL2A1):c.613C>T (p.Pro205Ser)
NM_001844.5(COL2A1):c.618G>A (p.Met206Ile)
NM_001844.5(COL2A1):c.61C>T (p.Leu21Phe)
NM_001844.5(COL2A1):c.623C>T (p.Pro208Leu) rs1049536561
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser) rs1565693325
NM_001844.5(COL2A1):c.643G>A (p.Ala215Thr)
NM_001844.5(COL2A1):c.679C>G (p.Pro227Ala)
NM_001844.5(COL2A1):c.686AACCTGGTG[3] (p.Gly234_Val235insGluProGly)
NM_001844.5(COL2A1):c.689C>G (p.Pro230Arg)
NM_001844.5(COL2A1):c.703G>T (p.Val235Phe)
NM_001844.5(COL2A1):c.717G>A (p.Met239Ile)
NM_001844.5(COL2A1):c.717G>C (p.Met239Ile)
NM_001844.5(COL2A1):c.733C>T (p.Pro245Ser)
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.74G>C (p.Gly25Ala) rs1940368906
NM_001844.5(COL2A1):c.767A>G (p.Glu256Gly) rs2136612672
NM_001844.5(COL2A1):c.796A>G (p.Arg266Gly)
NM_001844.5(COL2A1):c.7C>A (p.Arg3Ser)
NM_001844.5(COL2A1):c.816+4A>C rs754219474
NM_001844.5(COL2A1):c.816+6C>A rs766892635
NM_001844.5(COL2A1):c.817-5T>G
NM_001844.5(COL2A1):c.817-9G>A
NM_001844.5(COL2A1):c.824G>A (p.Arg275His)
NM_001844.5(COL2A1):c.833C>T (p.Pro278Leu)
NM_001844.5(COL2A1):c.847C>T (p.Leu283Phe)
NM_001844.5(COL2A1):c.85+17_85+18delinsTG
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.86-7G>A rs2136637630
NM_001844.5(COL2A1):c.86-8T>A
NM_001844.5(COL2A1):c.868A>G (p.Arg290Gly)
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.887A>G (p.Asp296Gly) rs2136609666
NM_001844.5(COL2A1):c.897G>C (p.Lys299Asn)
NM_001844.5(COL2A1):c.903G>C (p.Glu301Asp)
NM_001844.5(COL2A1):c.903G>T (p.Glu301Asp) rs1939821446
NM_001844.5(COL2A1):c.919G>A (p.Val307Met) rs2136609377
NM_001844.5(COL2A1):c.91G>A (p.Ala31Thr)
NM_001844.5(COL2A1):c.930G>C (p.Glu310Asp)
NM_001844.5(COL2A1):c.932G>A (p.Ser311Asn) rs2136607964
NM_001844.5(COL2A1):c.967A>G (p.Met323Val)
NM_001844.5(COL2A1):c.970-14G>A
NM_001844.5(COL2A1):c.977G>A (p.Arg326His)

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