NM_001844.5(COL2A1):c.-119C>T
|
rs3803182
|
0.79564
|
NM_001844.5(COL2A1):c.654+15T>G
|
rs1034762
|
0.79333
|
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)
|
rs3803183
|
0.75794
|
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)
|
rs1635553
|
0.45566
|
NM_001844.5(COL2A1):c.2194-55T>C
|
rs3829737
|
0.43071
|
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)
|
rs2276454
|
0.37692
|
NM_001844.5(COL2A1):c.762+15G>A
|
rs10875716
|
0.25696
|
NM_001844.5(COL2A1):c.1366-11C>T
|
rs10875714
|
0.20215
|
NM_001844.5(COL2A1):c.504C>A (p.Gly168=)
|
rs3737548
|
0.20086
|
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)
|
rs2070739
|
0.09896
|
NM_001844.5(COL2A1):c.*136C>T
|
rs41272777
|
0.05859
|
NM_001844.5(COL2A1):c.4075-14C>G
|
rs12721425
|
0.05398
|
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile)
|
rs12721427
|
0.05396
|
NM_001844.5(COL2A1):c.2094+7A>G
|
rs17801742
|
0.05167
|
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)
|
rs41317939
|
0.05124
|
NM_001844.5(COL2A1):c.2094+12G>C
|
rs17122510
|
0.04673
|
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=)
|
rs17122498
|
0.04377
|
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)
|
rs34392760
|
0.03719
|
NM_001844.5(COL2A1):c.2625+9C>T
|
rs41272027
|
0.02608
|
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)
|
rs1793947
|
0.02436
|
NM_001844.5(COL2A1):c.*4C>T
|
rs41272773
|
0.02262
|
NM_001844.5(COL2A1):c.*295C>T
|
rs41272781
|
0.02009
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
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.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_001844.5(COL2A1):c.708+8C>T
|
rs41317893
|
0.00720
|
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)
|
rs145704340
|
0.00654
|
NM_001844.5(COL2A1):c.*305G>A
|
rs532700241
|
0.00516
|
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)
|
rs12721379
|
0.00478
|
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)
|
rs1793948
|
0.00473
|
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)
|
rs150865922
|
0.00456
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_001844.5(COL2A1):c.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
|
0.00138
|
NM_001844.5(COL2A1):c.85+10C>G
|
rs769941617
|
0.00128
|
NM_001844.5(COL2A1):c.709-8G>T
|
rs200757693
|
0.00105
|
NM_001844.5(COL2A1):c.2095-4G>A
|
rs111570218
|
0.00089
|
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)
|
rs41263847
|
0.00073
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
0.00067
|
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)
|
rs200993187
|
0.00062
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)
|
rs35012272
|
0.00058
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_001844.5(COL2A1):c.1366-13C>A
|
rs200984998
|
0.00055
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_001844.5(COL2A1):c.*28C>T
|
rs41272775
|
0.00051
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_001844.5(COL2A1):c.4074+12G>T
|
rs201312340
|
0.00046
|
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
|
rs137948104
|
0.00046
|
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)
|
rs533540496
|
0.00038
|
NM_001844.5(COL2A1):c.870+11C>T
|
rs191695664
|
0.00036
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_001844.5(COL2A1):c.3327+3G>A
|
rs192229438
|
0.00031
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
NM_001844.5(COL2A1):c.1023+3G>A
|
rs374570848
|
0.00016
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
NM_001844.5(COL2A1):c.*158C>A
|
rs867067070
|
0.00015
|
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)
|
rs140740708
|
0.00015
|
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)
|
rs775923357
|
0.00015
|
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)
|
rs142161948
|
0.00014
|
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)
|
rs200214562
|
0.00014
|
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)
|
rs369359592
|
0.00013
|
NM_001844.5(COL2A1):c.147G>A (p.Pro49=)
|
rs372734539
|
0.00012
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)
|
rs376772481
|
0.00009
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_001844.5(COL2A1):c.*373G>C
|
rs990523451
|
0.00006
|
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)
|
rs775754967
|
0.00006
|
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)
|
rs150951022
|
0.00006
|
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
|
rs199726428
|
0.00006
|
NM_001844.5(COL2A1):c.1680+8G>T
|
rs754310324
|
0.00005
|
NM_001844.5(COL2A1):c.1680+9C>A
|
rs371857655
|
0.00005
|
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)
|
rs141375467
|
0.00005
|
NM_001844.5(COL2A1):c.312A>G (p.Gly104=)
|
rs139205058
|
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.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)
|
rs939449148
|
0.00004
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)
|
rs745633496
|
0.00003
|
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)
|
rs2276459
|
0.00003
|
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)
|
rs778382364
|
0.00003
|
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser)
|
rs1400762548
|
0.00003
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
NM_001844.5(COL2A1):c.*331G>A
|
rs1227723645
|
0.00002
|
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
|
rs748511528
|
0.00002
|
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)
|
rs756360655
|
0.00002
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
NM_001844.5(COL2A1):c.446G>A (p.Arg149His)
|
rs763538232
|
0.00002
|
NM_001844.5(COL2A1):c.-15G>T
|
rs886049450
|
0.00001
|
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)
|
rs781554389
|
0.00001
|
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=)
|
rs755093756
|
0.00001
|
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)
|
rs1186241291
|
0.00001
|
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)
|
rs371440147
|
0.00001
|
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)
|
rs1431778644
|
0.00001
|
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)
|
rs368641858
|
0.00001
|
NM_001844.5(COL2A1):c.1941+18C>T
|
rs753819738
|
0.00001
|
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys)
|
rs121912865
|
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.2304T>C (p.Gly768=)
|
rs925297712
|
0.00001
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val)
|
rs762619684
|
0.00001
|
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)
|
rs886043832
|
0.00001
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)
|
rs570320774
|
0.00001
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.3111+5G>A
|
rs1429492734
|
0.00001
|
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)
|
rs371635111
|
0.00001
|
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala)
|
rs886049446
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)
|
rs374156023
|
0.00001
|
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)
|
rs779252535
|
0.00001
|
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)
|
rs891008017
|
0.00001
|
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
|
rs202105427
|
0.00001
|
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)
|
rs748658390
|
0.00001
|
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)
|
rs754466377
|
0.00001
|
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)
|
rs1481212897
|
0.00001
|
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)
|
rs928430270
|
0.00001
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)
|
rs1380248932
|
0.00001
|
NM_001844.4(COL2A1):c.971delG
|
rs1555168309
|
|
NM_001844.5(COL2A1):c.*120C>G
|
rs886049443
|
|
NM_001844.5(COL2A1):c.*131C>T
|
rs886049442
|
|
NM_001844.5(COL2A1):c.*406A>G
|
rs886049441
|
|
NM_001844.5(COL2A1):c.1023+1G>C
|
rs886043794
|
|
NM_001844.5(COL2A1):c.1023+2T>A
|
rs2136604599
|
|
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp)
|
rs2136590361
|
|
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu)
|
rs886049448
|
|
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg)
|
|
|
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)
|
rs1939615464
|
|
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs)
|
rs2136590109
|
|
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)
|
rs121912871
|
|
NM_001844.5(COL2A1):c.1064del (p.Pro355fs)
|
|
|
NM_001844.5(COL2A1):c.1068+1G>C
|
rs2136590070
|
|
NM_001844.5(COL2A1):c.1068+4del
|
rs2136590056
|
|
NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser)
|
rs1423486005
|
|
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del)
|
rs2136587632
|
|
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys)
|
rs2136587685
|
|
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.1122+1G>C
|
rs1565686170
|
|
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)
|
rs1045330263
|
|
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)
|
rs1025202963
|
|
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.1222-2A>G
|
rs2136577259
|
|
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)
|
rs2136577158
|
|
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg)
|
|
|
NM_001844.5(COL2A1):c.1250G>T (p.Gly417Val)
|
rs2136577094
|
|
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
|
|
|
NM_001844.5(COL2A1):c.1266+1G>T
|
|
|
NM_001844.5(COL2A1):c.1266+1del
|
rs587776847
|
|
NM_001844.5(COL2A1):c.1266+5G>C
|
rs1064794958
|
|
NM_001844.5(COL2A1):c.1267-2_1269del
|
rs2136576211
|
|
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001844.5(COL2A1):c.12C>T (p.Leu4=)
|
rs886049449
|
|
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp)
|
rs1939463507
|
|
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)
|
|
|
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg)
|
rs2136575653
|
|
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser)
|
rs1939445848
|
|
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
|
|
|
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>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.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp)
|
rs1939412490
|
|
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val)
|
rs121912881
|
|
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)
|
rs2136571080
|
|
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)
|
rs2136571005
|
|
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)
|
|
|
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)
|
rs121912880
|
|
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)
|
rs121912880
|
|
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)
|
rs865903887
|
|
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)
|
rs868417981
|
|
NM_001844.5(COL2A1):c.1527+1G>A
|
|
|
NM_001844.5(COL2A1):c.1528-2del
|
|
|
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)
|
rs121912888
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
rs1246771678
|
|
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)
|
rs2136568585
|
|
NM_001844.5(COL2A1):c.1581+1G>A
|
|
|
NM_001844.5(COL2A1):c.1581+4_1581+7del
|
rs1565682292
|
|
NM_001844.5(COL2A1):c.1581+5G>A
|
rs1408154129
|
|
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.1646G>A (p.Gly549Asp)
|
rs2136567807
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del)
|
rs2136567630
|
|
NM_001844.5(COL2A1):c.1680+1G>A
|
rs1057524696
|
|
NM_001844.5(COL2A1):c.1680+2T>G
|
rs1565681966
|
|
NM_001844.5(COL2A1):c.1680+2dup
|
rs2136567546
|
|
NM_001844.5(COL2A1):c.1681-2_1681-1del
|
rs1592217071
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
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.1734+4del
|
rs2136566434
|
|
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp)
|
|
|
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg)
|
rs2136564199
|
|
NM_001844.5(COL2A1):c.1802_1833+55del
|
|
|
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
|
rs140580674
|
|
NM_001844.5(COL2A1):c.1833+1G>A
|
rs1939312423
|
|
NM_001844.5(COL2A1):c.1887+1G>A
|
rs2136561510
|
|
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)
|
rs1057518908
|
|
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)
|
rs121912897
|
|
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs)
|
rs2136558900
|
|
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)
|
rs1447463543
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)
|
|
|
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)
|
rs1269619781
|
|
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)
|
rs1555166729
|
|
NM_001844.5(COL2A1):c.1995+5G>A
|
rs1449516565
|
|
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)
|
rs1939205327
|
|
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp)
|
rs1565679062
|
|
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)
|
rs1565679039
|
|
NM_001844.5(COL2A1):c.2049+1G>A
|
rs1555166658
|
|
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
NM_001844.5(COL2A1):c.2094+1G>C
|
rs2136552560
|
|
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.2104G>A (p.Gly702Ser)
|
|
|
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs)
|
rs1939177362
|
|
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)
|
rs2136551606
|
|
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)
|
rs1555166537
|
|
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)
|
rs1939173389
|
|
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
|
|
|
NM_001844.5(COL2A1):c.2219del (p.Pro740fs)
|
rs1565677720
|
|
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
|
|
|
NM_001844.5(COL2A1):c.2302-1G>T
|
|
|
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser)
|
rs121912867
|
|
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)
|
rs886043410
|
|
NM_001844.5(COL2A1):c.2355+1G>A
|
rs1939124946
|
|
NM_001844.5(COL2A1):c.2355+2del
|
rs1555166295
|
|
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)
|
rs2136544726
|
|
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)
|
rs1555166218
|
|
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
|
|
|
NM_001844.5(COL2A1):c.2410-13T>G
|
rs574507277
|
|
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
|
rs2136539942
|
|
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)
|
rs2136538046
|
|
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)
|
|
|
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)
|
rs794727261
|
|
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
|
rs2136537559
|
|
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)
|
rs1592206729
|
|
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)
|
rs886042849
|
|
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)
|
rs886041429
|
|
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)
|
rs886041713
|
|
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)
|
rs886042009
|
|
NM_001844.5(COL2A1):c.2625+1del
|
rs2136537220
|
|
NM_001844.5(COL2A1):c.2625+2T>C
|
|
|
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)
|
rs1938961773
|
|
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln)
|
rs2136534972
|
|
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.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
|
rs1938958532
|
|
NM_001844.5(COL2A1):c.2679+1G>A
|
rs1592205758
|
|
NM_001844.5(COL2A1):c.2679+69dup
|
rs11443755
|
|
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser)
|
rs1398589070
|
|
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)
|
|
|
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys)
|
rs121912875
|
|
NM_001844.5(COL2A1):c.2734-18C>T
|
rs570573455
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])
|
rs2136528419
|
|
NM_001844.5(COL2A1):c.2751del (p.Gly918fs)
|
rs2136528572
|
|
NM_001844.5(COL2A1):c.2780G>T (p.Gly927Val)
|
|
|
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)
|
rs886043540
|
|
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)
|
rs121912866
|
|
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)
|
rs777615798
|
|
NM_001844.5(COL2A1):c.2814del (p.Gly939fs)
|
rs1555165494
|
|
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)
|
rs1057524114
|
|
NM_001844.5(COL2A1):c.2858del (p.Pro953fs)
|
rs2136527926
|
|
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser)
|
rs1938864270
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
NM_001844.5(COL2A1):c.2895+1G>C
|
|
|
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.2910_2918del (p.Pro971_Pro973del)
|
rs2136526614
|
|
NM_001844.5(COL2A1):c.292+2T>A
|
|
|
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
|
|
|
NM_001844.5(COL2A1):c.293-2A>T
|
|
|
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)
|
rs2136526515
|
|
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.2995G>T (p.Gly999Cys)
|
rs2136526244
|
|
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.3062_3079del (p.Pro1021_Gly1026del)
|
rs1555165335
|
|
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
|
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)
|
rs2136522964
|
|
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)
|
rs751205887
|
|
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)
|
rs121912873
|
|
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)
|
rs1555165245
|
|
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)
|
rs1555165242
|
|
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu)
|
rs121912868
|
|
NM_001844.5(COL2A1):c.3165+2_3166-84del
|
rs1938789358
|
|
NM_001844.5(COL2A1):c.3166-1G>A
|
rs1555165204
|
|
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)
|
|
|
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)
|
rs121912864
|
|
NM_001844.5(COL2A1):c.3256G>A (p.Gly1086Arg)
|
|
|
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)
|
rs2136521006
|
|
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter)
|
rs2136520087
|
|
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg)
|
rs864621973
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys)
|
rs2136518773
|
|
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs)
|
rs672601354
|
|
NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs)
|
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
NM_001844.5(COL2A1):c.3436-2A>G
|
rs1592198803
|
|
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.3463G>A (p.Gly1155Ser)
|
|
|
NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg)
|
rs2136516744
|
|
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)
|
rs1057518911
|
|
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.3510_3554dup (p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro)
|
rs2136514302
|
|
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg)
|
rs121912883
|
|
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.3563G>C (p.Gly1188Ala)
|
rs1592197682
|
|
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.3598-1G>A
|
rs1592196867
|
|
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)
|
|
|
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)
|
rs1555164786
|
|
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)
|
rs1592196744
|
|
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)
|
rs886049445
|
|
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp)
|
rs1347381176
|
|
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)
|
rs1481453913
|
|
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs)
|
rs1555164735
|
|
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs)
|
rs2136511549
|
|
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys)
|
rs886049444
|
|
NM_001844.5(COL2A1):c.3886+2T>C
|
rs1592196064
|
|
NM_001844.5(COL2A1):c.3887-2A>G
|
rs2136508967
|
|
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)
|
|
|
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
|
rs2136508909
|
|
NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys)
|
rs2136508895
|
|
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg)
|
rs1555164561
|
|
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)
|
rs2136508504
|
|
NM_001844.5(COL2A1):c.4074+1G>A
|
rs2136507956
|
|
NM_001844.5(COL2A1):c.4085del (p.Gly1362fs)
|
|
|
NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)
|
rs2136505985
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
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.4287_4291dup (p.Tyr1431fs)
|
rs2136504869
|
|
NM_001844.5(COL2A1):c.429+2T>G
|
|
|
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+9G>C
|
rs1938570357
|
|
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)
|
rs1565664375
|
|
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)
|
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)
|
|
|
NM_001844.5(COL2A1):c.491del (p.Pro164fs)
|
rs1592235241
|
|
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)
|
rs1592235241
|
|
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)
|
rs958614345
|
|
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
|
|
|
NM_001844.5(COL2A1):c.532-3C>A
|
rs755887776
|
|
NM_001844.5(COL2A1):c.541G>T (p.Ala181Ser)
|
rs1939975439
|
|
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
|
|
|
NM_001844.5(COL2A1):c.569del (p.Lys190fs)
|
rs2136622208
|
|
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
|
|
|
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs)
|
rs1592233968
|
|
NM_001844.5(COL2A1):c.609+4del
|
rs1555168965
|
|
NM_001844.5(COL2A1):c.610-17_617del
|
rs2136619163
|
|
NM_001844.5(COL2A1):c.610-2A>G
|
|
|
NM_001844.5(COL2A1):c.610-2A>T
|
|
|
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg)
|
rs869312907
|
|
NM_001844.5(COL2A1):c.620G>T (p.Gly207Val)
|
rs2136619125
|
|
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)
|
rs121912869
|
|
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
|
|
|
NM_001844.5(COL2A1):c.654+4dup
|
rs2136618963
|
|
NM_001844.5(COL2A1):c.655-2A>G
|
|
|
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)
|
rs1131691822
|
|
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
|
|
|
NM_001844.5(COL2A1):c.709-2A>G
|
rs1592232116
|
|
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu)
|
rs1592232018
|
|
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)
|
rs2136616311
|
|
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser)
|
rs2136616123
|
|
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)
|
rs121912872
|
|
NM_001844.5(COL2A1):c.817-1G>A
|
rs2136610684
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC
|
|
|
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC
|
|
|
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.924+14A>C
|
rs1475810942
|
|
NM_001844.5(COL2A1):c.925-1G>A
|
|
|
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg)
|
rs121912894
|
|
NM_001844.5(COL2A1):c.970-6T>C
|
|
|
NM_001844.5(COL2A1):c.970-8T>G
|
rs1165582049
|
|
NM_001844.5(COL2A1):c.980G>T (p.Gly327Val)
|
rs2136605023
|
|