|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
|
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
|
rs121912886
|
0.00005
|
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
|
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys)
|
rs121912865
|
0.00001
|
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
|
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)
|
rs121912891
|
0.00001
|
|
NC_000012.11:g.(?_48368049)_(48371518_?)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.1007G>A (p.Gly336Asp)
|
rs2136604776
|
|
|
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1023+1G>A
|
rs886043794
|
|
|
NM_001844.5(COL2A1):c.1023+1G>C
|
rs886043794
|
|
|
NM_001844.5(COL2A1):c.1023+2T>A
|
rs2136604599
|
|
|
NM_001844.5(COL2A1):c.1023+4A>G
|
rs1939770285
|
|
|
NM_001844.5(COL2A1):c.1024-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.1024-2A>G
|
rs2136590607
|
|
|
NM_001844.5(COL2A1):c.102T>A (p.Cys34Ter)
|
|
|
|
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter)
|
rs1565686896
|
|
|
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp)
|
rs1939617011
|
|
|
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.1052G>T (p.Gly351Val)
|
rs1939615464
|
|
|
NM_001844.5(COL2A1):c.1052del (p.Gly351fs)
|
rs398123628
|
|
|
NM_001844.5(COL2A1):c.1056del (p.Ala353fs)
|
rs794727185
|
|
|
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)
|
rs121912871
|
|
|
NM_001844.5(COL2A1):c.1068+1G>C
|
rs2136590070
|
|
|
NM_001844.5(COL2A1):c.1069-2A>G
|
|
|
|
NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser)
|
rs1423486005
|
|
|
NM_001844.5(COL2A1):c.1071del (p.Pro358fs)
|
rs886043797
|
|
|
NM_001844.5(COL2A1):c.1100del (p.Phe367fs)
|
rs2136587619
|
|
|
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.1114G>A (p.Gly372Arg)
|
rs1555167783
|
|
|
NM_001844.5(COL2A1):c.1117_1118del (p.Ala373fs)
|
|
|
|
NM_001844.5(COL2A1):c.1123-1G>A
|
rs1565684864
|
|
|
NM_001844.5(COL2A1):c.1123-2A>G
|
|
|
|
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)
|
rs1045330263
|
|
|
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser)
|
rs2136579628
|
|
|
NM_001844.5(COL2A1):c.1132_1135dup (p.Pro379fs)
|
|
|
|
NM_001844.5(COL2A1):c.1142G>A (p.Gly381Asp)
|
rs1323542030
|
|
|
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter)
|
rs1940161368
|
|
|
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)
|
rs1025202963
|
|
|
NM_001844.5(COL2A1):c.1182_1189dup (p.Thr397fs)
|
|
|
|
NM_001844.5(COL2A1):c.1189del (p.Thr397fs)
|
|
|
|
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup)
|
rs672601355
|
|
|
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg)
|
rs2136579152
|
|
|
NM_001844.5(COL2A1):c.1214G>A (p.Gly405Asp)
|
rs2136579057
|
|
|
NM_001844.5(COL2A1):c.1214del (p.Gly405fs)
|
rs794727225
|
|
|
NM_001844.5(COL2A1):c.1221+1G>A
|
rs1399741348
|
|
|
NM_001844.5(COL2A1):c.1222-2A>G
|
rs2136577259
|
|
|
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>T (p.Gly417Val)
|
rs2136577094
|
|
|
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
|
|
|
|
NM_001844.5(COL2A1):c.1259G>A (p.Gly420Glu)
|
rs2136577028
|
|
|
NM_001844.5(COL2A1):c.1266+1G>T
|
|
|
|
NM_001844.5(COL2A1):c.1266+1del
|
rs587776847
|
|
|
NM_001844.5(COL2A1):c.1267-2_1269del
|
rs2136576211
|
|
|
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp)
|
rs1555167449
|
|
|
NM_001844.5(COL2A1):c.126del (p.Asn42fs)
|
|
|
|
NM_001844.5(COL2A1):c.1284dup (p.Gly429fs)
|
|
|
|
NM_001844.5(COL2A1):c.1299_1302del (p.Phe433fs)
|
rs1555167439
|
|
|
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.1340G>A (p.Gly447Asp)
|
rs886043561
|
|
|
NM_001844.5(COL2A1):c.1348G>A (p.Gly450Ser)
|
rs2136575653
|
|
|
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg)
|
rs2136575653
|
|
|
NM_001844.5(COL2A1):c.1348G>T (p.Gly450Cys)
|
|
|
|
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.1358G>T (p.Gly453Val)
|
|
|
|
NM_001844.5(COL2A1):c.1366-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter)
|
rs1555167368
|
|
|
NM_001844.5(COL2A1):c.1377dup (p.Ile460fs)
|
rs2136574184
|
|
|
NM_001844.5(COL2A1):c.1385del (p.Gly462fs)
|
rs2136574120
|
|
|
NM_001844.5(COL2A1):c.1388_1996-108del
|
|
|
|
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
|
|
|
|
NM_001844.5(COL2A1):c.1399C>T (p.Gln467Ter)
|
rs1565683713
|
|
|
NM_001844.5(COL2A1):c.1403G>A (p.Gly468Asp)
|
|
|
|
NM_001844.5(COL2A1):c.1409del (p.Lys470fs)
|
rs2136573975
|
|
|
NM_001844.5(COL2A1):c.1419dup (p.Gly474fs)
|
rs2136573942
|
|
|
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter)
|
rs121912896
|
|
|
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.1420-7_1430del
|
rs1565683138
|
|
|
NM_001844.5(COL2A1):c.1421_1426del (p.Gly474_Pro475del)
|
rs2136571551
|
|
|
NM_001844.5(COL2A1):c.1424del (p.Pro475fs)
|
|
|
|
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter)
|
rs2136571484
|
|
|
NM_001844.5(COL2A1):c.1435del (p.Gln479fs)
|
rs2136571492
|
|
|
NM_001844.5(COL2A1):c.1438G>T (p.Gly480Ter)
|
|
|
|
NM_001844.5(COL2A1):c.1439del (p.Gly480fs)
|
|
|
|
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val)
|
rs121912881
|
|
|
NM_001844.5(COL2A1):c.1489_1492del (p.Pro497fs)
|
|
|
|
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)
|
rs2136571005
|
|
|
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.1518del (p.Gly507fs)
|
rs2136570799
|
|
|
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+135G>A
|
rs1592218346
|
|
|
NM_001844.5(COL2A1):c.1527+4A>C
|
rs2136570708
|
|
|
NM_001844.5(COL2A1):c.1528-2del
|
|
|
|
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys)
|
rs1555167157
|
|
|
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser)
|
rs1555167156
|
|
|
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)
|
rs886041895
|
|
|
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)
|
rs121912888
|
|
|
NM_001844.5(COL2A1):c.1556del (p.Gly519fs)
|
rs1555167140
|
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
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.157del (p.Arg53fs)
|
|
|
|
NM_001844.5(COL2A1):c.1581+5G>A
|
rs1408154129
|
|
|
NM_001844.5(COL2A1):c.1582-2A>T
|
|
|
|
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)
|
rs1085307608
|
|
|
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)
|
rs886044555
|
|
|
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val)
|
rs121912899
|
|
|
NM_001844.5(COL2A1):c.163del (p.Cys55fs)
|
|
|
|
NM_001844.5(COL2A1):c.1643del (p.Pro548fs)
|
|
|
|
NM_001844.5(COL2A1):c.1673del (p.Gly558fs)
|
|
|
|
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.1681-1dup
|
rs1555167067
|
|
|
NM_001844.5(COL2A1):c.1681G>A (p.Gly561Ser)
|
|
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
|
NM_001844.5(COL2A1):c.1703del (p.Asp568fs)
|
rs2136566565
|
|
|
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr)
|
rs121912898
|
|
|
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer)
|
rs2136637244
|
|
|
NM_001844.5(COL2A1):c.1735G>A (p.Gly579Arg)
|
rs1939320461
|
|
|
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.1760del (p.Pro587fs)
|
rs2136564288
|
|
|
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.1802_1833+55del
|
|
|
|
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg)
|
rs886041945
|
|
|
NM_001844.5(COL2A1):c.1833+1G>A
|
rs1939312423
|
|
|
NM_001844.5(COL2A1):c.1859del (p.Lys620fs)
|
|
|
|
NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu)
|
rs1939281881
|
|
|
NM_001844.5(COL2A1):c.1869del (p.Gly624fs)
|
|
|
|
NM_001844.5(COL2A1):c.1887+1G>A
|
rs2136561510
|
|
|
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg)
|
rs794727472
|
|
|
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.192C>A (p.Cys64Ter)
|
rs121912897
|
|
|
NM_001844.5(COL2A1):c.1932del (p.Gly645fs)
|
|
|
|
NM_001844.5(COL2A1):c.1934G>A (p.Gly645Asp)
|
rs1592214400
|
|
|
NM_001844.5(COL2A1):c.1941+1G>A
|
rs1555166808
|
|
|
NM_001844.5(COL2A1):c.1941+1G>T
|
|
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
|
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys)
|
rs1269619781
|
|
|
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)
|
rs1555166729
|
|
|
NM_001844.5(COL2A1):c.1995+1G>A
|
rs2136556600
|
|
|
NM_001844.5(COL2A1):c.1995+1G>T
|
rs2136556600
|
|
|
NM_001844.5(COL2A1):c.1996-1G>A
|
rs886041935
|
|
|
NM_001844.5(COL2A1):c.1996-1G>C
|
rs886041935
|
|
|
NM_001844.5(COL2A1):c.1996-9G>A
|
rs2136555221
|
|
|
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg)
|
rs2136555177
|
|
|
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
|
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.2005G>A (p.Gly669Ser)
|
rs1939205327
|
|
|
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.2024G>A (p.Gly675Asp)
|
rs1565679062
|
|
|
NM_001844.5(COL2A1):c.2033del (p.Gly678fs)
|
|
|
|
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)
|
rs1565679039
|
|
|
NM_001844.5(COL2A1):c.2049+1G>T
|
|
|
|
NM_001844.5(COL2A1):c.2050-1G>T
|
rs2136552988
|
|
|
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
|
NM_001844.5(COL2A1):c.2068G>A (p.Gly690Arg)
|
rs1321119554
|
|
|
NM_001844.5(COL2A1):c.2094+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.2094+1G>C
|
rs2136552560
|
|
|
NM_001844.5(COL2A1):c.2094_2094+1dup
|
rs2136552575
|
|
|
NM_001844.5(COL2A1):c.2095G>C (p.Gly699Arg)
|
rs2136551691
|
|
|
NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys)
|
rs2136551691
|
|
|
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)
|
rs1555166555
|
|
|
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.2146C>T (p.Gln716Ter)
|
|
|
|
NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser)
|
rs387906558
|
|
|
NM_001844.5(COL2A1):c.2150del (p.Gly717fs)
|
rs2136551308
|
|
|
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)
|
rs1555166528
|
|
|
NM_001844.5(COL2A1):c.2168G>A (p.Gly723Asp)
|
rs2136551055
|
|
|
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp)
|
rs1555166457
|
|
|
NM_001844.5(COL2A1):c.2200del (p.Ser734fs)
|
|
|
|
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val)
|
rs1367822001
|
|
|
NM_001844.5(COL2A1):c.2219del (p.Pro740fs)
|
rs1565677720
|
|
|
NM_001844.5(COL2A1):c.2219dup (p.Gly741fs)
|
rs1565677720
|
|
|
NM_001844.5(COL2A1):c.2233_2234del (p.Pro745fs)
|
|
|
|
NM_001844.5(COL2A1):c.2245C>T (p.Gln749Ter)
|
rs2136549115
|
|
|
NM_001844.5(COL2A1):c.2248G>A (p.Gly750Arg)
|
rs2136549103
|
|
|
NM_001844.5(COL2A1):c.225C>A (p.Cys75Ter)
|
|
|
|
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.2288_2290delinsTCT (p.Pro763_Lys764delinsLeuTer)
|
rs2136548888
|
|
|
NM_001844.5(COL2A1):c.2301+1G>T
|
|
|
|
NM_001844.5(COL2A1):c.2302-1G>T
|
|
|
|
NM_001844.5(COL2A1):c.2302-2A>G
|
rs1939127867
|
|
|
NM_001844.5(COL2A1):c.2305_2309del (p.Asp769fs)
|
rs2136546785
|
|
|
NM_001844.5(COL2A1):c.2312G>C (p.Gly771Ala)
|
|
|
|
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser)
|
rs121912867
|
|
|
NM_001844.5(COL2A1):c.2329G>T (p.Gly777Ter)
|
|
|
|
NM_001844.5(COL2A1):c.233dup (p.Pro78_Glu79insTer)
|
|
|
|
NM_001844.5(COL2A1):c.2344_2355+5del
|
|
|
|
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser)
|
rs2136546628
|
|
|
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)
|
rs886043410
|
|
|
NM_001844.5(COL2A1):c.2355+1G>A
|
rs1939124946
|
|
|
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.2393_2406del (p.Gly798fs)
|
rs2136544532
|
|
|
NM_001844.5(COL2A1):c.2406del (p.Lys803fs)
|
|
|
|
NM_001844.5(COL2A1):c.2478_2479del (p.Glu826fs)
|
rs2136539854
|
|
|
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.250del (p.Glu84fs)
|
|
|
|
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.2566C>T (p.Gln856Ter)
|
rs1565674604
|
|
|
NM_001844.5(COL2A1):c.2577dup (p.Ala860fs)
|
rs2136537698
|
|
|
NM_001844.5(COL2A1):c.2578dup (p.Ala860fs)
|
|
|
|
NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp)
|
rs1209546147
|
|
|
NM_001844.5(COL2A1):c.2589del (p.Gly864fs)
|
|
|
|
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)
|
rs794727261
|
|
|
NM_001844.5(COL2A1):c.25_26delinsTA (p.Thr9Ter)
|
rs1131691546
|
|
|
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)
|
rs886042849
|
|
|
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.2617G>T (p.Gly873Trp)
|
rs886041713
|
|
|
NM_001844.5(COL2A1):c.2618G>A (p.Gly873Glu)
|
rs886042009
|
|
|
NM_001844.5(COL2A1):c.261dup (p.Ile88fs)
|
rs1592238899
|
|
|
NM_001844.5(COL2A1):c.2625+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.2625+1G>C
|
|
|
|
NM_001844.5(COL2A1):c.2668C>T (p.Gln890Ter)
|
|
|
|
NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser)
|
rs121912879
|
|
|
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)
|
rs121912879
|
|
|
NM_001844.5(COL2A1):c.2678del (p.Pro893fs)
|
rs1938958532
|
|
|
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
|
rs1938958532
|
|
|
NM_001844.5(COL2A1):c.2679+1G>A
|
rs1592205758
|
|
|
NM_001844.5(COL2A1):c.267C>A (p.Cys89Ter)
|
rs2136636832
|
|
|
NM_001844.5(COL2A1):c.2699del (p.Gly900fs)
|
rs2136532405
|
|
|
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
|
NM_001844.5(COL2A1):c.2714_2715dup (p.Gly906fs)
|
|
|
|
NM_001844.5(COL2A1):c.2718del (p.Pro908fs)
|
|
|
|
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys)
|
rs121912875
|
|
|
NM_001844.5(COL2A1):c.2726G>A (p.Gly909Asp)
|
|
|
|
NM_001844.5(COL2A1):c.2726G>C (p.Gly909Ala)
|
rs2136532206
|
|
|
NM_001844.5(COL2A1):c.2746_2753dup (p.Pro920fs)
|
|
|
|
NM_001844.5(COL2A1):c.2751del (p.Gly918fs)
|
rs2136528572
|
|
|
NM_001844.5(COL2A1):c.2753dup (p.Pro919fs)
|
rs1938872900
|
|
|
NM_001844.5(COL2A1):c.2754del (p.Pro920fs)
|
rs2136528535
|
|
|
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.2780G>T (p.Gly927Val)
|
|
|
|
NM_001844.5(COL2A1):c.2785A>T (p.Lys929Ter)
|
|
|
|
NM_001844.5(COL2A1):c.2787dup (p.Gly930fs)
|
|
|
|
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.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>T (p.Arg940Ter)
|
rs1057524114
|
|
|
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp)
|
rs886041914
|
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
|
NM_001844.5(COL2A1):c.2850dup (p.Gly951fs)
|
|
|
|
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>T (p.Glu955Ter)
|
|
|
|
NM_001844.5(COL2A1):c.2872G>T (p.Glu958Ter)
|
|
|
|
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser)
|
rs1215825701
|
|
|
NM_001844.5(COL2A1):c.2895+1G>C
|
|
|
|
NM_001844.5(COL2A1):c.2902G>T (p.Glu968Ter)
|
rs144572461
|
|
|
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)
|
rs121912878
|
|
|
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)
|
rs1592202517
|
|
|
NM_001844.5(COL2A1):c.2920C>T (p.Gln974Ter)
|
|
|
|
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
|
|
|
|
NM_001844.5(COL2A1):c.2933del (p.Gly978fs)
|
rs1938845595
|
|
|
NM_001844.5(COL2A1):c.2934del (p.Gln979fs)
|
rs1938845386
|
|
|
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)
|
rs2136526515
|
|
|
NM_001844.5(COL2A1):c.2942dup (p.Ile982fs)
|
rs2136526506
|
|
|
NM_001844.5(COL2A1):c.2947_2948dup (p.Gly984fs)
|
|
|
|
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter)
|
|
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
|
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.2989_2997del (p.Leu997_Gly999del)
|
rs2136526235
|
|
|
NM_001844.5(COL2A1):c.3000_3001del (p.Ser1001fs)
|
rs2136526175
|
|
|
NM_001844.5(COL2A1):c.3004-1G>A
|
rs2136525334
|
|
|
NM_001844.5(COL2A1):c.3009del (p.Glu1003fs)
|
|
|
|
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)
|
rs753342774
|
|
|
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)
|
rs765795867
|
|
|
NM_001844.5(COL2A1):c.3047_3056dup (p.Gly1020fs)
|
rs2136525064
|
|
|
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)
|
rs1555165335
|
|
|
NM_001844.5(COL2A1):c.3063del (p.Val1022fs)
|
rs2136525034
|
|
|
NM_001844.5(COL2A1):c.306_309dup (p.Gly104fs)
|
|
|
|
NM_001844.5(COL2A1):c.3075dup (p.Gly1026fs)
|
rs2136524986
|
|
|
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
|
|
|
|
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)
|
|
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
|
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter)
|
rs764210489
|
|
|
NM_001844.5(COL2A1):c.3111+2T>C
|
rs1938818395
|
|
|
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.3131del (p.Gly1044fs)
|
|
|
|
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.3156dup (p.Gly1053fs)
|
rs1057518157
|
|
|
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu)
|
rs121912868
|
|
|
NM_001844.5(COL2A1):c.3165+1G>T
|
rs767701661
|
|
|
NM_001844.5(COL2A1):c.3166-1G>A
|
rs1555165204
|
|
|
NM_001844.5(COL2A1):c.3189dup (p.Val1064fs)
|
|
|
|
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu)
|
rs1555165195
|
|
|
NM_001844.5(COL2A1):c.3210_3217dup (p.Pro1073fs)
|
|
|
|
NM_001844.5(COL2A1):c.3216_3234dup (p.Ala1079fs)
|
rs2136521329
|
|
|
NM_001844.5(COL2A1):c.3219del (p.Gly1074fs)
|
rs2136521461
|
|
|
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)
|
rs121912864
|
|
|
NM_001844.5(COL2A1):c.3227del (p.Pro1076fs)
|
|
|
|
NM_001844.5(COL2A1):c.3234dup (p.Ala1079fs)
|
rs2136521308
|
|
|
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)
|
|
|
|
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg)
|
rs1555165183
|
|
|
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)
|
rs2136521006
|
|
|
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.32del (p.Val11fs)
|
rs2136652716
|
|
|
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg)
|
rs864621973
|
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
|
NM_001844.5(COL2A1):c.3328G>T (p.Gly1110Cys)
|
rs1938737050
|
|
|
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter)
|
rs2136518839
|
|
|
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys)
|
rs2136518773
|
|
|
NM_001844.5(COL2A1):c.3356del (p.Gly1119fs)
|
rs1555165110
|
|
|
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs)
|
rs672601354
|
|
|
NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs)
|
|
|
|
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.3401G>A (p.Gly1134Asp)
|
|
|
|
NM_001844.5(COL2A1):c.342+1G>A
|
rs2136629179
|
|
|
NM_001844.5(COL2A1):c.342+5G>A
|
rs2136629166
|
|
|
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser)
|
rs2136518157
|
|
|
NM_001844.5(COL2A1):c.343-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.3436_3437insA (p.Gly1146fs)
|
|
|
|
NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del)
|
rs1938718648
|
|
|
NM_001844.5(COL2A1):c.3454G>C (p.Gly1152Arg)
|
rs1592198747
|
|
|
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp)
|
rs2136516779
|
|
|
NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser)
|
|
|
|
NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg)
|
rs2136516744
|
|
|
NM_001844.5(COL2A1):c.3464G>T (p.Gly1155Val)
|
|
|
|
NM_001844.5(COL2A1):c.346_347insA (p.Val116fs)
|
rs2136628462
|
|
|
NM_001844.5(COL2A1):c.3489+163_3597+2del
|
rs1555164872
|
|
|
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)
|
rs2136514646
|
|
|
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg)
|
rs121912891
|
|
|
NM_001844.5(COL2A1):c.3510_3554dup (p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro)
|
rs2136514302
|
|
|
NM_001844.5(COL2A1):c.3515_3516del (p.Ser1172fs)
|
|
|
|
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg)
|
rs121912883
|
|
|
NM_001844.5(COL2A1):c.3526G>A (p.Gly1176Ser)
|
rs2136514418
|
|
|
NM_001844.5(COL2A1):c.3536dup (p.Ile1180fs)
|
|
|
|
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg)
|
rs1938688718
|
|
|
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu)
|
rs2136514291
|
|
|
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)
|
rs886042651
|
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
|
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg)
|
rs121912870
|
|
|
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala)
|
rs1938686073
|
|
|
NM_001844.5(COL2A1):c.3597+1G>A
|
rs1555164874
|
|
|
NM_001844.5(COL2A1):c.3597+1G>C
|
rs1555164874
|
|
|
NM_001844.5(COL2A1):c.3598-1G>A
|
rs1592196867
|
|
|
NM_001844.5(COL2A1):c.3599G>A (p.Gly1200Asp)
|
rs1362154291
|
|
|
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala)
|
|
|
|
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.3627_3644del (p.1205PGP[2])
|
rs2136512373
|
|
|
NM_001844.5(COL2A1):c.3630del (p.Pro1211fs)
|
|
|
|
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)
|
rs1592196744
|
|
|
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)
|
rs760093841
|
|
|
NM_001844.5(COL2A1):c.3661_3665dup (p.Phe1223fs)
|
|
|
|
NM_001844.5(COL2A1):c.3663del (p.Ala1222fs)
|
rs1938661102
|
|
|
NM_001844.5(COL2A1):c.3699del (p.Asp1234fs)
|
|
|
|
NM_001844.5(COL2A1):c.3706dup (p.Leu1236fs)
|
|
|
|
NM_001844.5(COL2A1):c.3709C>T (p.Gln1237Ter)
|
rs2136511934
|
|
|
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)
|
rs1481453913
|
|
|
NM_001844.5(COL2A1):c.3721del (p.Ala1241fs)
|
|
|
|
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs)
|
rs1555164735
|
|
|
NM_001844.5(COL2A1):c.377_378dup (p.Pro127fs)
|
|
|
|
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.3808del (p.Arg1270fs)
|
rs2136511168
|
|
|
NM_001844.5(COL2A1):c.3816del (p.Glu1273fs)
|
|
|
|
NM_001844.5(COL2A1):c.3831del (p.Asn1278fs)
|
rs2136510961
|
|
|
NM_001844.5(COL2A1):c.3864_3865del (p.Cys1289fs)
|
rs2136510866
|
|
|
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter)
|
rs1555164672
|
|
|
NM_001844.5(COL2A1):c.3886+1G>A
|
rs2136510769
|
|
|
NM_001844.5(COL2A1):c.3886+2T>C
|
rs1592196064
|
|
|
NM_001844.5(COL2A1):c.3887-1G>C
|
rs1565666318
|
|
|
NM_001844.5(COL2A1):c.3892del (p.Tyr1298fs)
|
rs2136508934
|
|
|
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
|
rs2136508909
|
|
|
NM_001844.5(COL2A1):c.3898_3964delinsTAGT (p.Ile1300_Thr1322delinsTer)
|
|
|
|
NM_001844.5(COL2A1):c.3906dup (p.Asn1303fs)
|
|
|
|
NM_001844.5(COL2A1):c.3914G>A (p.Gly1305Asp)
|
rs121912887
|
|
|
NM_001844.5(COL2A1):c.391C>T (p.Gln131Ter)
|
|
|
|
NM_001844.5(COL2A1):c.393del (p.Gly132fs)
|
|
|
|
NM_001844.5(COL2A1):c.3961G>T (p.Glu1321Ter)
|
|
|
|
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.3978_3979insG (p.Asn1327fs)
|
rs2136508488
|
|
|
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)
|
rs2136508504
|
|
|
NM_001844.5(COL2A1):c.3996del (p.Lys1333fs)
|
rs2136508368
|
|
|
NM_001844.5(COL2A1):c.4008G>A (p.Trp1336Ter)
|
rs1565666048
|
|
|
NM_001844.5(COL2A1):c.4011G>A (p.Trp1337Ter)
|
|
|
|
NM_001844.5(COL2A1):c.4025del (p.Lys1342fs)
|
rs2136508191
|
|
|
NM_001844.5(COL2A1):c.402dup (p.Gly135fs)
|
rs2136627628
|
|
|
NM_001844.5(COL2A1):c.4068dup (p.Phe1357fs)
|
rs2136508009
|
|
|
NM_001844.5(COL2A1):c.406del (p.Asp136fs)
|
|
|
|
NM_001844.5(COL2A1):c.4074+1G>A
|
rs2136507956
|
|
|
NM_001844.5(COL2A1):c.4074+2T>G
|
|
|
|
NM_001844.5(COL2A1):c.4075-1G>C
|
rs2136506437
|
|
|
NM_001844.5(COL2A1):c.4081T>G (p.Tyr1361Asp)
|
|
|
|
NM_001844.5(COL2A1):c.4085del (p.Gly1362fs)
|
|
|
|
NM_001844.5(COL2A1):c.4127_4128dup (p.Phe1377fs)
|
|
|
|
NM_001844.5(COL2A1):c.4142_4143insCCACGGACGTAGA (p.Ser1382fs)
|
|
|
|
NM_001844.5(COL2A1):c.4159C>T (p.Gln1387Ter)
|
rs2136505738
|
|
|
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)
|
rs2136505595
|
|
|
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)
|
rs121912889
|
|
|
NM_001844.5(COL2A1):c.4175_4176dup (p.Cys1393fs)
|
|
|
|
NM_001844.5(COL2A1):c.4195_4205delinsAGCATTGCC (p.Tyr1399fs)
|
rs1555164385
|
|
|
NM_001844.5(COL2A1):c.4231_4240del (p.Leu1411fs)
|
|
|
|
NM_001844.5(COL2A1):c.4238del (p.Ile1413fs)
|
|
|
|
NM_001844.5(COL2A1):c.4240C>T (p.Gln1414Ter)
|
|
|
|
NM_001844.5(COL2A1):c.4254del (p.Asp1418fs)
|
|
|
|
NM_001844.5(COL2A1):c.4287_4291dup (p.Tyr1431fs)
|
rs2136504869
|
|
|
NM_001844.5(COL2A1):c.4293C>A (p.Tyr1431Ter)
|
rs2136504848
|
|
|
NM_001844.5(COL2A1):c.4303A>T (p.Lys1435Ter)
|
|
|
|
NM_001844.5(COL2A1):c.4310_4313dup (p.Cys1438fs)
|
rs2136504769
|
|
|
NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter)
|
rs121912890
|
|
|
NM_001844.5(COL2A1):c.4317+1G>T
|
rs2136504667
|
|
|
NM_001844.5(COL2A1):c.4317+1del
|
rs2136504675
|
|
|
NM_001844.5(COL2A1):c.4317+2T>G
|
rs2136504658
|
|
|
NM_001844.5(COL2A1):c.4319_4322dup (p.His1441fs)
|
|
|
|
NM_001844.5(COL2A1):c.4323_4324del (p.Thr1442fs)
|
rs2136502670
|
|
|
NM_001844.5(COL2A1):c.4328del (p.Gly1443fs)
|
rs1555164232
|
|
|
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)
|
rs1565664375
|
|
|
NM_001844.5(COL2A1):c.437del (p.Pro146fs)
|
|
|
|
NM_001844.5(COL2A1):c.4405G>T (p.Asp1469Tyr)
|
rs2136502090
|
|
|
NM_001844.5(COL2A1):c.4413_4416del (p.Gly1472fs)
|
rs1592192920
|
|
|
NM_001844.5(COL2A1):c.4443dup (p.Gly1482fs)
|
|
|
|
NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs)
|
rs794727761
|
|
|
NM_001844.5(COL2A1):c.451A>T (p.Arg151Ter)
|
|
|
|
NM_001844.5(COL2A1):c.460G>T (p.Glu154Ter)
|
rs1228018976
|
|
|
NM_001844.5(COL2A1):c.460_461del (p.Glu154fs)
|
|
|
|
NM_001844.5(COL2A1):c.485del (p.Gly162fs)
|
rs2136626297
|
|
|
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.504_505delinsA (p.Pro170fs)
|
rs1592235212
|
|
|
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.512del (p.Gly171fs)
|
|
|
|
NM_001844.5(COL2A1):c.518dup (p.Gly174fs)
|
|
|
|
NM_001844.5(COL2A1):c.519del (p.Gly174fs)
|
rs1592235124
|
|
|
NM_001844.5(COL2A1):c.519dup (p.Gly174fs)
|
rs2136625913
|
|
|
NM_001844.5(COL2A1):c.531+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.534del (p.Phe179fs)
|
|
|
|
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter)
|
rs886041843
|
|
|
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
|
|
|
|
NM_001844.5(COL2A1):c.569del (p.Lys190fs)
|
rs2136622208
|
|
|
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs)
|
rs1592233968
|
|
|
NM_001844.5(COL2A1):c.610-17_617del
|
rs2136619163
|
|
|
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.625C>T (p.Arg209Ter)
|
rs121912869
|
|
|
NM_001844.5(COL2A1):c.635dup (p.Gly213fs)
|
rs1939938528
|
|
|
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp)
|
rs1064794264
|
|
|
NM_001844.5(COL2A1):c.654+1G>A
|
rs2136618972
|
|
|
NM_001844.5(COL2A1):c.655-2A>G
|
|
|
|
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.6dup (p.Arg3fs)
|
|
|
|
NM_001844.5(COL2A1):c.709-1G>A
|
rs2136616554
|
|
|
NM_001844.5(COL2A1):c.709-1G>C
|
rs2136616554
|
|
|
NM_001844.5(COL2A1):c.709-2A>G
|
rs1592232116
|
|
|
NM_001844.5(COL2A1):c.714dup (p.Met239fs)
|
rs886043934
|
|
|
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp)
|
rs1592232040
|
|
|
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)
|
rs2136616311
|
|
|
NM_001844.5(COL2A1):c.743del (p.Pro248fs)
|
|
|
|
NM_001844.5(COL2A1):c.762+1G>A
|
rs794727026
|
|
|
NM_001844.5(COL2A1):c.76C>T (p.Gln26Ter)
|
|
|
|
NM_001844.5(COL2A1):c.781G>T (p.Gly261Ter)
|
rs2136612635
|
|
|
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)
|
rs121912872
|
|
|
NM_001844.5(COL2A1):c.814C>T (p.Gln272Ter)
|
|
|
|
NM_001844.5(COL2A1):c.817-1G>A
|
rs2136610684
|
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
|
NM_001844.5(COL2A1):c.827del (p.Gly276fs)
|
|
|
|
NM_001844.5(COL2A1):c.835G>T (p.Gly279Ter)
|
rs2136610618
|
|
|
NM_001844.5(COL2A1):c.842_843insT (p.Gly282fs)
|
rs1592230091
|
|
|
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.85C>T (p.Gln29Ter)
|
rs1940368506
|
|
|
NM_001844.5(COL2A1):c.870+1G>A
|
rs2136610457
|
|
|
NM_001844.5(COL2A1):c.883del (p.Leu295fs)
|
rs1939822590
|
|
|
NM_001844.5(COL2A1):c.894del (p.Lys299fs)
|
|
|
|
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.917G>A (p.Gly306Asp)
|
rs2136609413
|
|
|
NM_001844.5(COL2A1):c.925-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.930dup (p.Ser311fs)
|
|
|
|
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg)
|
rs121912894
|
|
|
NM_001844.5(COL2A1):c.980G>T (p.Gly327Val)
|
rs2136605023
|
|
|
NM_001844.5(COL2A1):c.980del (p.Gly327fs)
|
|
|
|
NM_001844.5(COL2A1):c.990_991del (p.Glu331fs)
|
|
|