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)
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|
|
NM_001844.5(COL2A1):c.4124T>C (p.Met1375Thr)
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|
|
NM_001844.5(COL2A1):c.4135C>A (p.Arg1379Ser)
|
|
|
NM_001844.5(COL2A1):c.4157C>A (p.Ser1386Tyr)
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|
|
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)
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|
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)
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|
|
NM_001844.5(COL2A1):c.4259A>C (p.Glu1420Ala)
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|
|
NM_001844.5(COL2A1):c.4268C>G (p.Ala1423Gly)
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|
|
NM_001844.5(COL2A1):c.4281C>G (p.Ser1427Arg)
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|
|
NM_001844.5(COL2A1):c.4315A>G (p.Thr1439Ala)
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|
NM_001844.5(COL2A1):c.4317G>A (p.Thr1439=)
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|
NM_001844.5(COL2A1):c.4317_4317+3dup
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|
NM_001844.5(COL2A1):c.4320A>T (p.Lys1440Asn)
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|
|
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)
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|
|
NM_001844.5(COL2A1):c.4378C>T (p.Leu1460Phe)
|
|
|
NM_001844.5(COL2A1):c.4386C>G (p.Ile1462Met)
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|
|
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)
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|
|
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)
|
|
|