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0.00081
|
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)
|
rs147202936
|
0.00079
|
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.398C>A (p.Pro133His)
|
rs201234519
|
0.00061
|
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.1176C>T (p.Arg392=)
|
rs201575114
|
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.709-20C>T
|
rs535509546
|
0.00046
|
NM_001844.5(COL2A1):c.1266+19del
|
rs41317917
|
0.00039
|
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)
|
rs533540496
|
0.00038
|
NM_001844.5(COL2A1):c.762+13G>A
|
rs147698746
|
0.00036
|
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.3003+20C>T
|
rs571017845
|
0.00031
|
NM_001844.5(COL2A1):c.3327+3G>A
|
rs192229438
|
0.00031
|
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser)
|
rs200882049
|
0.00031
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
NM_001844.5(COL2A1):c.3235G>A (p.Ala1079Thr)
|
rs143363942
|
0.00026
|
NM_001844.5(COL2A1):c.3274-18C>T
|
rs370482993
|
0.00026
|
NM_001844.5(COL2A1):c.762+20C>A
|
rs199807767
|
0.00026
|
NM_001844.5(COL2A1):c.528T>A (p.Gly176=)
|
rs567132968
|
0.00025
|
NM_001844.5(COL2A1):c.1581+16G>A
|
rs182598943
|
0.00024
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_001844.5(COL2A1):c.655-17C>T
|
rs372454816
|
0.00024
|
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=)
|
rs141944722
|
0.00023
|
NM_001844.5(COL2A1):c.3870C>T (p.His1290=)
|
rs139957398
|
0.00020
|
NM_001844.5(COL2A1):c.1266+14G>A
|
rs376892669
|
0.00019
|
NM_001844.5(COL2A1):c.2901C>T (p.Ala967=)
|
rs148449532
|
0.00019
|
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met)
|
rs147559634
|
0.00019
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
NM_001844.5(COL2A1):c.1833+18C>G
|
rs374668610
|
0.00018
|
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser)
|
rs377198201
|
0.00017
|
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.816+13G>A
|
rs149757685
|
0.00016
|
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.1635C>T (p.Asn545=)
|
rs141321284
|
0.00014
|
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)
|
rs142161948
|
0.00014
|
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)
|
rs200214562
|
0.00014
|
NM_001844.5(COL2A1):c.662A>C (p.Gln221Pro)
|
rs368187891
|
0.00014
|
NM_001844.5(COL2A1):c.960G>A (p.Pro320=)
|
rs138806868
|
0.00014
|
NM_001844.5(COL2A1):c.135T>C (p.Asp45=)
|
rs375778172
|
0.00013
|
NM_001844.5(COL2A1):c.158G>A (p.Arg53Gln)
|
rs370821294
|
0.00013
|
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)
|
rs369359592
|
0.00013
|
NM_001844.5(COL2A1):c.3639C>T (p.Pro1213=)
|
rs375710692
|
0.00013
|
NM_001844.5(COL2A1):c.1353G>A (p.Pro451=)
|
rs560149744
|
0.00012
|
NM_001844.5(COL2A1):c.147G>A (p.Pro49=)
|
rs372734539
|
0.00012
|
NM_001844.5(COL2A1):c.2382T>A (p.Pro794=)
|
rs373352689
|
0.00012
|
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=)
|
rs41272767
|
0.00012
|
NM_001844.5(COL2A1):c.526G>A (p.Gly176Ser)
|
rs201003836
|
0.00012
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_001844.5(COL2A1):c.1941+14C>T
|
rs201963693
|
0.00011
|
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu)
|
rs371974287
|
0.00011
|
NM_001844.5(COL2A1):c.871-18T>C
|
rs763541773
|
0.00011
|
NM_001844.5(COL2A1):c.1996-10C>T
|
rs144804336
|
0.00010
|
NM_001844.5(COL2A1):c.3084G>T (p.Thr1028=)
|
rs142786064
|
0.00010
|
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp)
|
rs374082762
|
0.00010
|
NM_001844.5(COL2A1):c.610-8C>T
|
rs369362701
|
0.00010
|
NM_001844.5(COL2A1):c.86-5T>A
|
rs753142339
|
0.00010
|
NM_001844.5(COL2A1):c.1011T>C (p.Pro337=)
|
rs761001588
|
0.00009
|
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg)
|
rs765855138
|
0.00009
|
NM_001844.5(COL2A1):c.2464-19A>C
|
rs200042189
|
0.00009
|
NM_001844.5(COL2A1):c.2712C>T (p.Arg904=)
|
rs765332234
|
0.00009
|
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.3644G>C (p.Gly1215Ala)
|
rs775874428
|
0.00009
|
NM_001844.5(COL2A1):c.3843C>T (p.Arg1281=)
|
rs752970787
|
0.00009
|
NM_001844.5(COL2A1):c.3969C>T (p.Cys1323=)
|
rs577585827
|
0.00009
|
NM_001844.5(COL2A1):c.4041C>A (p.Ile1347=)
|
rs139496018
|
0.00009
|
NM_001844.5(COL2A1):c.1056C>T (p.Pro352=)
|
rs528554971
|
0.00008
|
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=)
|
rs145023922
|
0.00008
|
NM_001844.5(COL2A1):c.2355+12C>T
|
rs371211621
|
0.00008
|
NM_001844.5(COL2A1):c.2742T>C (p.Pro914=)
|
rs369492641
|
0.00008
|
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys)
|
rs144572461
|
0.00008
|
NM_001844.5(COL2A1):c.3165+14G>A
|
rs371697518
|
0.00008
|
NM_001844.5(COL2A1):c.3598-14G>A
|
rs375342062
|
0.00008
|
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys)
|
rs781229123
|
0.00008
|
NM_001844.5(COL2A1):c.3990C>T (p.Asn1330=)
|
rs373464470
|
0.00008
|
NM_001844.5(COL2A1):c.410G>A (p.Arg137His)
|
rs201675352
|
0.00008
|
NM_001844.5(COL2A1):c.4422G>A (p.Glu1474=)
|
rs369696920
|
0.00008
|
NM_001844.5(COL2A1):c.2463G>A (p.Pro821=)
|
rs769766820
|
0.00007
|
NM_001844.5(COL2A1):c.2832C>T (p.Pro944=)
|
rs147592023
|
0.00007
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln)
|
rs770482348
|
0.00007
|
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)
|
rs367625071
|
0.00007
|
NM_001844.5(COL2A1):c.4169C>T (p.Thr1390Ile)
|
rs1161207534
|
0.00007
|
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met)
|
rs371226850
|
0.00007
|
NM_001844.5(COL2A1):c.1224T>A (p.Gly408=)
|
rs1236428120
|
0.00006
|
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)
|
rs775754967
|
0.00006
|
NM_001844.5(COL2A1):c.1694G>A (p.Arg565His)
|
rs372182200
|
0.00006
|
NM_001844.5(COL2A1):c.1738G>T (p.Ala580Ser)
|
rs146604807
|
0.00006
|
NM_001844.5(COL2A1):c.2711G>A (p.Arg904His)
|
rs201544025
|
0.00006
|
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)
|
rs150951022
|
0.00006
|
NM_001844.5(COL2A1):c.3435+18C>T
|
rs375024988
|
0.00006
|
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
|
rs199726428
|
0.00006
|
NM_001844.5(COL2A1):c.4075-17G>A
|
rs770056351
|
0.00006
|
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His)
|
rs754487319
|
0.00006
|
NM_001844.5(COL2A1):c.816+7G>A
|
rs761217687
|
0.00006
|
NM_001844.5(COL2A1):c.871-4C>G
|
rs547809613
|
0.00006
|
NM_001844.5(COL2A1):c.1024-15C>T
|
rs373141531
|
0.00005
|
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala)
|
rs376641474
|
0.00005
|
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)
|
rs141375467
|
0.00005
|
NM_001844.5(COL2A1):c.2562C>T (p.Ala854=)
|
rs368779265
|
0.00005
|
NM_001844.5(COL2A1):c.312A>G (p.Gly104=)
|
rs139205058
|
0.00005
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=)
|
rs750227063
|
0.00005
|
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
|
rs121912886
|
0.00005
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
NM_001844.5(COL2A1):c.531+10C>T
|
rs753563783
|
0.00005
|
NM_001844.5(COL2A1):c.1017C>T (p.Gly339=)
|
rs767949699
|
0.00004
|
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr)
|
rs762355724
|
0.00004
|
NM_001844.5(COL2A1):c.1420-13T>C
|
rs781084068
|
0.00004
|
NM_001844.5(COL2A1):c.1670C>T (p.Pro557Leu)
|
rs866981761
|
0.00004
|
NM_001844.5(COL2A1):c.192C>T (p.Cys64=)
|
rs121912897
|
0.00004
|
NM_001844.5(COL2A1):c.2166C>T (p.Pro722=)
|
rs753427426
|
0.00004
|
NM_001844.5(COL2A1):c.2356-5C>T
|
rs41263863
|
0.00004
|
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser)
|
rs1306517572
|
0.00004
|
NM_001844.5(COL2A1):c.2409+13T>A
|
rs749230087
|
0.00004
|
NM_001844.5(COL2A1):c.2457C>T (p.Gly819=)
|
rs145833071
|
0.00004
|
NM_001844.5(COL2A1):c.2475A>G (p.Gly825=)
|
rs368219434
|
0.00004
|
NM_001844.5(COL2A1):c.2490C>T (p.Pro830=)
|
rs772029902
|
0.00004
|
NM_001844.5(COL2A1):c.2499G>A (p.Ala833=)
|
rs779244918
|
0.00004
|
NM_001844.5(COL2A1):c.2655A>T (p.Gly885=)
|
rs775834995
|
0.00004
|
NM_001844.5(COL2A1):c.2734-10C>T
|
rs773599916
|
0.00004
|
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser)
|
rs769590506
|
0.00004
|
NM_001844.5(COL2A1):c.2961G>A (p.Gly987=)
|
rs372938742
|
0.00004
|
NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met)
|
rs199642249
|
0.00004
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=)
|
rs376722458
|
0.00004
|
NM_001844.5(COL2A1):c.3234C>T (p.Pro1078=)
|
rs554016564
|
0.00004
|
NM_001844.5(COL2A1):c.3426C>T (p.Pro1142=)
|
rs755031857
|
0.00004
|
NM_001844.5(COL2A1):c.3504C>T (p.Pro1168=)
|
rs369451393
|
0.00004
|
NM_001844.5(COL2A1):c.3507C>T (p.Val1169=)
|
rs371633786
|
0.00004
|
NM_001844.5(COL2A1):c.350G>C (p.Gly117Ala)
|
rs201192882
|
0.00004
|
NM_001844.5(COL2A1):c.3588C>T (p.Thr1196=)
|
rs1245257033
|
0.00004
|
NM_001844.5(COL2A1):c.3598-16_3598-15insGAT
|
rs778309871
|
0.00004
|
NM_001844.5(COL2A1):c.3684G>A (p.Pro1228=)
|
rs767791258
|
0.00004
|
NM_001844.5(COL2A1):c.3735C>T (p.Ala1245=)
|
rs752469047
|
0.00004
|
NM_001844.5(COL2A1):c.376-18C>T
|
rs779179434
|
0.00004
|
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His)
|
rs763097721
|
0.00004
|
NM_001844.5(COL2A1):c.3980A>G (p.Asn1327Ser)
|
rs1265043208
|
0.00004
|
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)
|
rs939449148
|
0.00004
|
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser)
|
rs200621622
|
0.00004
|
NM_001844.5(COL2A1):c.4103C>T (p.Pro1368Leu)
|
rs149375186
|
0.00004
|
NM_001844.5(COL2A1):c.4247C>T (p.Ser1416Phe)
|
rs557405437
|
0.00004
|
NM_001844.5(COL2A1):c.4317+8G>A
|
rs373141723
|
0.00004
|
NM_001844.5(COL2A1):c.501C>T (p.Pro167=)
|
rs768549401
|
0.00004
|
NM_001844.5(COL2A1):c.578G>A (p.Gly193Asp)
|
rs764878166
|
0.00004
|
NM_001844.5(COL2A1):c.816+6C>T
|
rs766892635
|
0.00004
|
NM_001844.5(COL2A1):c.870+12G>A
|
rs373679402
|
0.00004
|
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu)
|
rs778135776
|
0.00004
|
NM_001844.5(COL2A1):c.969+13A>G
|
rs752733598
|
0.00004
|
NM_001844.5(COL2A1):c.1000C>T (p.Arg334Trp)
|
rs372264296
|
0.00003
|
NM_001844.5(COL2A1):c.1069-16C>T
|
rs760355253
|
0.00003
|
NM_001844.5(COL2A1):c.1122+12G>T
|
rs765750308
|
0.00003
|
NM_001844.5(COL2A1):c.1365G>A (p.Thr455=)
|
rs1477075559
|
0.00003
|
NM_001844.5(COL2A1):c.1377T>C (p.Gly459=)
|
rs898071484
|
0.00003
|
NM_001844.5(COL2A1):c.1400A>G (p.Gln467Arg)
|
rs765413831
|
0.00003
|
NM_001844.5(COL2A1):c.1443C>A (p.Ala481=)
|
rs765319566
|
0.00003
|
NM_001844.5(COL2A1):c.1497C>T (p.Gly499=)
|
rs773764091
|
0.00003
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
NM_001844.5(COL2A1):c.1929C>A (p.Pro643=)
|
rs375813386
|
0.00003
|
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe)
|
rs1482498887
|
0.00003
|
NM_001844.5(COL2A1):c.2194-10C>T
|
rs779541449
|
0.00003
|
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=)
|
rs781062223
|
0.00003
|
NM_001844.5(COL2A1):c.2302-3C>T
|
rs895256869
|
0.00003
|
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile)
|
rs368583168
|
0.00003
|
NM_001844.5(COL2A1):c.2409+9C>T
|
rs370390239
|
0.00003
|
NM_001844.5(COL2A1):c.2410-7C>T
|
rs767041085
|
0.00003
|
NM_001844.5(COL2A1):c.2435C>T (p.Ala812Val)
|
rs767149878
|
0.00003
|
NM_001844.5(COL2A1):c.2462C>T (p.Pro821Leu)
|
rs201963052
|
0.00003
|
NM_001844.5(COL2A1):c.276C>T (p.Asp92=)
|
rs748367231
|
0.00003
|
NM_001844.5(COL2A1):c.2781T>C (p.Gly927=)
|
rs781135588
|
0.00003
|
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=)
|
rs555904044
|
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.3652A>G (p.Ile1218Val)
|
rs374450416
|
0.00003
|
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)
|
rs2276459
|
0.00003
|
NM_001844.5(COL2A1):c.3760G>A (p.Glu1254Lys)
|
rs373684149
|
0.00003
|
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys)
|
rs748248022
|
0.00003
|
NM_001844.5(COL2A1):c.3970G>A (p.Val1324Ile)
|
rs755207565
|
0.00003
|
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)
|
rs778382364
|
0.00003
|
NM_001844.5(COL2A1):c.4407C>T (p.Asp1469=)
|
rs750477616
|
0.00003
|
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser)
|
rs1400762548
|
0.00003
|
NM_001844.5(COL2A1):c.506C>A (p.Pro169His)
|
rs746108926
|
0.00003
|
NM_001844.5(COL2A1):c.564T>C (p.Asp188=)
|
rs763401709
|
0.00003
|
NM_001844.5(COL2A1):c.579C>T (p.Gly193=)
|
rs374674474
|
0.00003
|
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr)
|
rs371445823
|
0.00003
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
NM_001844.5(COL2A1):c.763-7C>A
|
rs762591076
|
0.00003
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
NM_001844.5(COL2A1):c.871-6C>T
|
rs1040791693
|
0.00003
|
NM_001844.5(COL2A1):c.942G>A (p.Pro314=)
|
rs772688503
|
0.00003
|
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln)
|
rs765231668
|
0.00002
|
NM_001844.5(COL2A1):c.1067C>T (p.Pro356Leu)
|
rs184529965
|
0.00002
|
NM_001844.5(COL2A1):c.1122+19A>G
|
rs760267333
|
0.00002
|
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
|
rs748511528
|
0.00002
|
NM_001844.5(COL2A1):c.1175G>A (p.Arg392His)
|
rs201953356
|
0.00002
|
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His)
|
rs766574999
|
0.00002
|
NM_001844.5(COL2A1):c.1523A>G (p.Glu508Gly)
|
rs768225873
|
0.00002
|
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly)
|
rs776744207
|
0.00002
|
NM_001844.5(COL2A1):c.1596G>T (p.Glu532Asp)
|
rs774901867
|
0.00002
|
NM_001844.5(COL2A1):c.1623C>T (p.Pro541=)
|
rs770713408
|
0.00002
|
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)
|
rs756360655
|
0.00002
|
NM_001844.5(COL2A1):c.1681-6A>G
|
rs778019716
|
0.00002
|
NM_001844.5(COL2A1):c.1728C>T (p.Gly576=)
|
rs1037598469
|
0.00002
|
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)
|
rs755517458
|
0.00002
|
NM_001844.5(COL2A1):c.1830C>T (p.Ala610=)
|
rs151332549
|
0.00002
|
NM_001844.5(COL2A1):c.1832A>G (p.Asn611Ser)
|
rs142492439
|
0.00002
|
NM_001844.5(COL2A1):c.1837G>A (p.Glu613Lys)
|
rs765275917
|
0.00002
|
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn)
|
rs976006680
|
0.00002
|
NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser)
|
rs747852608
|
0.00002
|
NM_001844.5(COL2A1):c.2063A>G (p.Glu688Gly)
|
rs750867405
|
0.00002
|
NM_001844.5(COL2A1):c.2095-5C>T
|
rs775744875
|
0.00002
|
NM_001844.5(COL2A1):c.2126C>T (p.Ser709Phe)
|
rs771198337
|
0.00002
|
NM_001844.5(COL2A1):c.2142C>T (p.Gly714=)
|
rs758930823
|
0.00002
|
NM_001844.5(COL2A1):c.2280C>T (p.Ile760=)
|
rs757108462
|
0.00002
|
NM_001844.5(COL2A1):c.237G>C (p.Glu79Asp)
|
rs757029242
|
0.00002
|
NM_001844.5(COL2A1):c.2403C>T (p.Gly801=)
|
rs145766709
|
0.00002
|
NM_001844.5(COL2A1):c.2433T>A (p.Pro811=)
|
rs1441776862
|
0.00002
|
NM_001844.5(COL2A1):c.2463+5G>A
|
rs747075073
|
0.00002
|
NM_001844.5(COL2A1):c.247G>A (p.Gly83Arg)
|
rs762911032
|
0.00002
|
NM_001844.5(COL2A1):c.2498C>T (p.Ala833Val)
|
rs1375464902
|
0.00002
|
NM_001844.5(COL2A1):c.2513C>A (p.Pro838His)
|
rs912002483
|
0.00002
|
NM_001844.5(COL2A1):c.2586C>T (p.Ala862=)
|
rs759022222
|
0.00002
|
NM_001844.5(COL2A1):c.2610A>G (p.Gly870=)
|
rs551668075
|
0.00002
|
NM_001844.5(COL2A1):c.2622T>A (p.Pro874=)
|
rs1456658006
|
0.00002
|
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile)
|
rs759822181
|
0.00002
|
NM_001844.5(COL2A1):c.2727C>T (p.Gly909=)
|
rs776780069
|
0.00002
|
NM_001844.5(COL2A1):c.2734-13T>A
|
rs186360720
|
0.00002
|
NM_001844.5(COL2A1):c.2895+10T>C
|
rs781045497
|
0.00002
|
NM_001844.5(COL2A1):c.310G>A (p.Gly104Arg)
|
rs764210489
|
0.00002
|
NM_001844.5(COL2A1):c.3111+17C>T
|
rs369067534
|
0.00002
|
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly)
|
rs780375782
|
0.00002
|
NM_001844.5(COL2A1):c.3327+17C>G
|
rs779918971
|
0.00002
|
NM_001844.5(COL2A1):c.3582C>T (p.Gly1194=)
|
rs566528045
|
0.00002
|
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser)
|
rs886626700
|
0.00002
|
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val)
|
rs556788032
|
0.00002
|
NM_001844.5(COL2A1):c.3960C>T (p.Gly1320=)
|
rs758384775
|
0.00002
|
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys)
|
rs762357071
|
0.00002
|
NM_001844.5(COL2A1):c.4221C>G (p.Leu1407=)
|
rs771307718
|
0.00002
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln)
|
rs745349011
|
0.00002
|
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=)
|
rs554488169
|
0.00002
|
NM_001844.5(COL2A1):c.430-12C>T
|
rs1019662074
|
0.00002
|
NM_001844.5(COL2A1):c.4318-17C>T
|
rs570227994
|
0.00002
|
NM_001844.5(COL2A1):c.4358G>A (p.Arg1453Gln)
|
rs770494878
|
0.00002
|
NM_001844.5(COL2A1):c.4431C>T (p.Phe1477=)
|
rs746611653
|
0.00002
|
NM_001844.5(COL2A1):c.445C>T (p.Arg149Cys)
|
rs144505311
|
0.00002
|
NM_001844.5(COL2A1):c.446G>A (p.Arg149His)
|
rs763538232
|
0.00002
|
NM_001844.5(COL2A1):c.530G>A (p.Gly177Glu)
|
rs764690054
|
0.00002
|
NM_001844.5(COL2A1):c.709-9T>C
|
rs374291498
|
0.00002
|
NM_001844.5(COL2A1):c.7C>G (p.Arg3Gly)
|
rs898585011
|
0.00002
|
NM_001844.5(COL2A1):c.85+17_85+18insGCTG
|
rs1417241544
|
0.00002
|
NM_001844.5(COL2A1):c.888C>T (p.Asp296=)
|
rs776629744
|
0.00002
|
NM_001844.5(COL2A1):c.8G>T (p.Arg3Leu)
|
rs372229776
|
0.00002
|
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu)
|
rs200549186
|
0.00002
|
NM_001844.5(COL2A1):c.969+8T>G
|
rs759230939
|
0.00002
|
NM_001844.5(COL2A1):c.96C>T (p.Gly32=)
|
rs755499757
|
0.00002
|
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)
|
rs781554389
|
0.00001
|
NM_001844.5(COL2A1):c.1092T>C (p.Gly364=)
|
rs778214645
|
0.00001
|
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.1123-7T>C
|
rs1939504396
|
0.00001
|
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His)
|
rs1417502139
|
0.00001
|
NM_001844.5(COL2A1):c.114G>A (p.Gly38=)
|
rs760370735
|
0.00001
|
NM_001844.5(COL2A1):c.1162G>A (p.Ala388Thr)
|
rs755466728
|
0.00001
|
NM_001844.5(COL2A1):c.1221+12T>G
|
rs763808202
|
0.00001
|
NM_001844.5(COL2A1):c.1221+7G>C
|
rs1361537680
|
0.00001
|
NM_001844.5(COL2A1):c.123T>C (p.Tyr41=)
|
rs1226870134
|
0.00001
|
NM_001844.5(COL2A1):c.1267-19C>A
|
rs1351301710
|
0.00001
|
NM_001844.5(COL2A1):c.1279A>G (p.Ile427Val)
|
rs1247674624
|
0.00001
|
NM_001844.5(COL2A1):c.1342C>T (p.Pro448Ser)
|
rs923610032
|
0.00001
|
NM_001844.5(COL2A1):c.1365+12A>G
|
rs1555167401
|
0.00001
|
NM_001844.5(COL2A1):c.1366-17C>T
|
rs779931593
|
0.00001
|
NM_001844.5(COL2A1):c.1372C>T (p.Pro458Ser)
|
rs764095772
|
0.00001
|
NM_001844.5(COL2A1):c.1407C>T (p.Pro469=)
|
rs776808431
|
0.00001
|
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=)
|
rs755093756
|
0.00001
|
NM_001844.5(COL2A1):c.1464A>G (p.Glu488=)
|
rs754092365
|
0.00001
|
NM_001844.5(COL2A1):c.1486G>C (p.Glu496Gln)
|
rs1329803286
|
0.00001
|
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala)
|
rs557340983
|
0.00001
|
NM_001844.5(COL2A1):c.1503G>A (p.Gly501=)
|
rs1480731765
|
0.00001
|
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu)
|
rs904660062
|
0.00001
|
NM_001844.5(COL2A1):c.1509C>T (p.Ile503=)
|
rs148932318
|
0.00001
|
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser)
|
rs945234297
|
0.00001
|
NM_001844.5(COL2A1):c.1528-16C>T
|
rs1021930911
|
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.1581+20C>G
|
rs1050269472
|
0.00001
|
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp)
|
rs370407502
|
0.00001
|
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser)
|
rs907944585
|
0.00001
|
NM_001844.5(COL2A1):c.1661C>T (p.Pro554Leu)
|
rs781636320
|
0.00001
|
NM_001844.5(COL2A1):c.1678C>T (p.Arg560Trp)
|
rs757693116
|
0.00001
|
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)
|
rs1186241291
|
0.00001
|
NM_001844.5(COL2A1):c.1681-4A>T
|
rs1939350440
|
0.00001
|
NM_001844.5(COL2A1):c.1734+3A>G
|
rs1057521852
|
0.00001
|
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)
|
rs371440147
|
0.00001
|
NM_001844.5(COL2A1):c.1758T>C (p.Arg586=)
|
rs1939318577
|
0.00001
|
NM_001844.5(COL2A1):c.1819C>T (p.Pro607Ser)
|
rs763003390
|
0.00001
|
NM_001844.5(COL2A1):c.1833C>T (p.Asn611=)
|
rs545120998
|
0.00001
|
NM_001844.5(COL2A1):c.1834-15C>G
|
rs762913737
|
0.00001
|
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)
|
rs1431778644
|
0.00001
|
NM_001844.5(COL2A1):c.1887+17G>A
|
rs780530020
|
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.1941+2_1941+7dup
|
rs1177422023
|
0.00001
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
NM_001844.5(COL2A1):c.2058C>T (p.Pro686=)
|
rs756536380
|
0.00001
|
NM_001844.5(COL2A1):c.2071G>A (p.Ala691Thr)
|
rs1250885285
|
0.00001
|
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met)
|
rs751036439
|
0.00001
|
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=)
|
rs762603514
|
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.2147A>G (p.Gln716Arg)
|
rs1252045461
|
0.00001
|
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys)
|
rs121912865
|
0.00001
|
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His)
|
rs535980544
|
0.00001
|
NM_001844.5(COL2A1):c.2193+13G>A
|
rs867065694
|
0.00001
|
NM_001844.5(COL2A1):c.2193+16T>C
|
rs1158939914
|
0.00001
|
NM_001844.5(COL2A1):c.2193+6T>G
|
rs1324792540
|
0.00001
|
NM_001844.5(COL2A1):c.2194-5C>T
|
rs767435931
|
0.00001
|
NM_001844.5(COL2A1):c.2214C>G (p.Gly738=)
|
rs202222691
|
0.00001
|
NM_001844.5(COL2A1):c.2219C>A (p.Pro740His)
|
rs774819000
|
0.00001
|
NM_001844.5(COL2A1):c.2260G>A (p.Glu754Lys)
|
rs1064796856
|
0.00001
|
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)
|
rs751436440
|
0.00001
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
NM_001844.5(COL2A1):c.2301+5G>A
|
rs1335619157
|
0.00001
|
NM_001844.5(COL2A1):c.2302-12C>T
|
rs1471459639
|
0.00001
|
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)
|
rs925297712
|
0.00001
|
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly)
|
rs767686686
|
0.00001
|
NM_001844.5(COL2A1):c.2355+15G>A
|
rs746660994
|
0.00001
|
NM_001844.5(COL2A1):c.2356-4G>A
|
rs767986491
|
0.00001
|
NM_001844.5(COL2A1):c.2404G>A (p.Glu802Lys)
|
rs148985854
|
0.00001
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
NM_001844.5(COL2A1):c.2410-19C>A
|
rs755457830
|
0.00001
|
NM_001844.5(COL2A1):c.2458G>A (p.Ala820Thr)
|
rs371550944
|
0.00001
|
NM_001844.5(COL2A1):c.2517+19C>A
|
rs780579572
|
0.00001
|
NM_001844.5(COL2A1):c.2518-13C>T
|
rs950804089
|
0.00001
|
NM_001844.5(COL2A1):c.2518-8C>T
|
rs1939006941
|
0.00001
|
NM_001844.5(COL2A1):c.2551C>G (p.Gln851Glu)
|
rs776408221
|
0.00001
|
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser)
|
rs770043048
|
0.00001
|
NM_001844.5(COL2A1):c.2625+13G>A
|
rs757966388
|
0.00001
|
NM_001844.5(COL2A1):c.2626-15C>T
|
rs1938962620
|
0.00001
|
NM_001844.5(COL2A1):c.2626-19C>T
|
rs773731833
|
0.00001
|
NM_001844.5(COL2A1):c.2632A>G (p.Thr878Ala)
|
rs147760401
|
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.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.2679+9G>T
|
rs747506253
|
0.00001
|
NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala)
|
rs1252498034
|
0.00001
|
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)
|
rs570320774
|
0.00001
|
NM_001844.5(COL2A1):c.279C>T (p.Leu93=)
|
rs774746221
|
0.00001
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
NM_001844.5(COL2A1):c.280G>A (p.Ala94Thr)
|
rs768931460
|
0.00001
|
NM_001844.5(COL2A1):c.2812C>A (p.Pro938Thr)
|
rs200772957
|
0.00001
|
NM_001844.5(COL2A1):c.281C>T (p.Ala94Val)
|
rs1224104246
|
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.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.2921A>G (p.Gln974Arg)
|
rs776404713
|
0.00001
|
NM_001844.5(COL2A1):c.293-17T>C
|
rs368198635
|
0.00001
|
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=)
|
rs566132150
|
0.00001
|
NM_001844.5(COL2A1):c.2944A>T (p.Ile982Phe)
|
rs1239633408
|
0.00001
|
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)
|
rs772889503
|
0.00001
|
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His)
|
rs756155678
|
0.00001
|
NM_001844.5(COL2A1):c.2993C>T (p.Pro998Leu)
|
rs757449808
|
0.00001
|
NM_001844.5(COL2A1):c.3002C>T (p.Ser1001Leu)
|
rs765898571
|
0.00001
|
NM_001844.5(COL2A1):c.3003+10G>A
|
rs1351714277
|
0.00001
|
NM_001844.5(COL2A1):c.3004-10G>C
|
rs1938825498
|
0.00001
|
NM_001844.5(COL2A1):c.3026C>T (p.Ala1009Val)
|
rs1315629927
|
0.00001
|
NM_001844.5(COL2A1):c.302G>T (p.Gly101Val)
|
rs557218250
|
0.00001
|
NM_001844.5(COL2A1):c.3057T>G (p.Pro1019=)
|
rs767248078
|
0.00001
|
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met)
|
rs770907704
|
0.00001
|
NM_001844.5(COL2A1):c.310-19T>G
|
rs377452716
|
0.00001
|
NM_001844.5(COL2A1):c.3106C>G (p.Arg1036Gly)
|
rs748459670
|
0.00001
|
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln)
|
rs201956851
|
0.00001
|
NM_001844.5(COL2A1):c.3111+5G>A
|
rs1429492734
|
0.00001
|
NM_001844.5(COL2A1):c.3111+9T>C
|
rs918900950
|
0.00001
|
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu)
|
rs978657987
|
0.00001
|
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)
|
rs371635111
|
0.00001
|
NM_001844.5(COL2A1):c.3173G>A (p.Arg1058His)
|
rs774603840
|
0.00001
|
NM_001844.5(COL2A1):c.3188C>T (p.Ala1063Val)
|
rs978921089
|
0.00001
|
NM_001844.5(COL2A1):c.3207C>G (p.Ala1069=)
|
rs777096609
|
0.00001
|
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu)
|
rs1489240592
|
0.00001
|
NM_001844.5(COL2A1):c.3222C>G (p.Gly1074=)
|
rs746453469
|
0.00001
|
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser)
|
rs753709490
|
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.3317G>A (p.Arg1106Gln)
|
rs1453392906
|
0.00001
|
NM_001844.5(COL2A1):c.3327+15G>A
|
rs925627565
|
0.00001
|
NM_001844.5(COL2A1):c.3328-13G>T
|
rs373278655
|
0.00001
|
NM_001844.5(COL2A1):c.3376G>A (p.Glu1126Lys)
|
rs762592219
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His)
|
rs776292672
|
0.00001
|
NM_001844.5(COL2A1):c.342+19C>T
|
rs371439250
|
0.00001
|
NM_001844.5(COL2A1):c.3425C>A (p.Pro1142His)
|
rs1466253134
|
0.00001
|
NM_001844.5(COL2A1):c.3435+19G>A
|
rs41272759
|
0.00001
|
NM_001844.5(COL2A1):c.347T>C (p.Val116Ala)
|
rs779950053
|
0.00001
|
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)
|
rs374156023
|
0.00001
|
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)
|
rs121912891
|
0.00001
|
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)
|
rs779252535
|
0.00001
|
NM_001844.5(COL2A1):c.3598-5T>C
|
rs1441411760
|
0.00001
|
NM_001844.5(COL2A1):c.3598-6C>G
|
rs763340509
|
0.00001
|
NM_001844.5(COL2A1):c.3600T>G (p.Gly1200=)
|
rs1284336050
|
0.00001
|
NM_001844.5(COL2A1):c.3621C>T (p.Pro1207=)
|
rs749799630
|
0.00001
|
NM_001844.5(COL2A1):c.3637C>A (p.Pro1213Thr)
|
rs886626700
|
0.00001
|
NM_001844.5(COL2A1):c.3654C>T (p.Ile1218=)
|
rs780783419
|
0.00001
|
NM_001844.5(COL2A1):c.3656A>G (p.Asp1219Gly)
|
rs751251798
|
0.00001
|
NM_001844.5(COL2A1):c.3687A>T (p.Arg1229Ser)
|
rs1241940269
|
0.00001
|
NM_001844.5(COL2A1):c.3688G>A (p.Glu1230Lys)
|
rs1223523741
|
0.00001
|
NM_001844.5(COL2A1):c.3700G>A (p.Asp1234Asn)
|
rs1345598613
|
0.00001
|
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)
|
rs891008017
|
0.00001
|
NM_001844.5(COL2A1):c.375+10G>A
|
rs766802524
|
0.00001
|
NM_001844.5(COL2A1):c.3757G>A (p.Ala1253Thr)
|
rs551400443
|
0.00001
|
NM_001844.5(COL2A1):c.3759C>T (p.Ala1253=)
|
rs761840345
|
0.00001
|
NM_001844.5(COL2A1):c.3792C>T (p.Asn1264=)
|
rs1183855969
|
0.00001
|
NM_001844.5(COL2A1):c.3814C>T (p.Pro1272Ser)
|
rs1226449887
|
0.00001
|
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys)
|
rs778838205
|
0.00001
|
NM_001844.5(COL2A1):c.3873T>C (p.Pro1291=)
|
rs1427175087
|
0.00001
|
NM_001844.5(COL2A1):c.3887-10C>T
|
rs754208302
|
0.00001
|
NM_001844.5(COL2A1):c.3887-8C>T
|
rs1216800127
|
0.00001
|
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln)
|
rs375448469
|
0.00001
|
NM_001844.5(COL2A1):c.3927C>T (p.Asp1309=)
|
rs774100575
|
0.00001
|
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr)
|
rs1555164561
|
0.00001
|
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn)
|
rs763777663
|
0.00001
|
NM_001844.5(COL2A1):c.4024A>G (p.Lys1342Glu)
|
rs1480368696
|
0.00001
|
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr)
|
rs775279845
|
0.00001
|
NM_001844.5(COL2A1):c.4056C>T (p.Thr1352=)
|
rs759422405
|
0.00001
|
NM_001844.5(COL2A1):c.4074+11G>A
|
rs750833827
|
0.00001
|
NM_001844.5(COL2A1):c.4074+20A>G
|
rs752166175
|
0.00001
|
NM_001844.5(COL2A1):c.4075-15T>C
|
rs781604018
|
0.00001
|
NM_001844.5(COL2A1):c.4075-16C>T
|
rs754586103
|
0.00001
|
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
|
rs202105427
|
0.00001
|
NM_001844.5(COL2A1):c.4102C>T (p.Pro1368Ser)
|
rs775650170
|
0.00001
|
NM_001844.5(COL2A1):c.4115A>G (p.Asn1372Ser)
|
rs771399441
|
0.00001
|
NM_001844.5(COL2A1):c.4119C>T (p.Val1373=)
|
rs1037668981
|
0.00001
|
NM_001844.5(COL2A1):c.415G>A (p.Asp139Asn)
|
rs1402865784
|
0.00001
|
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=)
|
rs1284508374
|
0.00001
|
NM_001844.5(COL2A1):c.4203C>T (p.Asp1401=)
|
rs200781896
|
0.00001
|
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys)
|
rs759583931
|
0.00001
|
NM_001844.5(COL2A1):c.4231C>T (p.Leu1411=)
|
rs141906099
|
0.00001
|
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)
|
rs748658390
|
0.00001
|
NM_001844.5(COL2A1):c.4256T>C (p.Val1419Ala)
|
rs1308668773
|
0.00001
|
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)
|
rs754466377
|
0.00001
|
NM_001844.5(COL2A1):c.4274G>C (p.Gly1425Ala)
|
rs989110731
|
0.00001
|
NM_001844.5(COL2A1):c.430-19T>C
|
rs575645356
|
0.00001
|
NM_001844.5(COL2A1):c.4318-16_4318-14del
|
rs1416980198
|
0.00001
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
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.4357C>T (p.Arg1453Trp)
|
rs776306214
|
0.00001
|
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser)
|
rs1181216326
|
0.00001
|
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His)
|
rs777416478
|
0.00001
|
NM_001844.5(COL2A1):c.4388T>C (p.Ile1463Thr)
|
rs748077700
|
0.00001
|
NM_001844.5(COL2A1):c.4414G>T (p.Gly1472Trp)
|
rs763352763
|
0.00001
|
NM_001844.5(COL2A1):c.4438G>A (p.Asp1480Asn)
|
rs772969125
|
0.00001
|
NM_001844.5(COL2A1):c.489C>T (p.Pro163=)
|
rs760638362
|
0.00001
|
NM_001844.5(COL2A1):c.48C>T (p.Leu16=)
|
rs944161670
|
0.00001
|
NM_001844.5(COL2A1):c.518C>G (p.Pro173Arg)
|
rs528081130
|
0.00001
|
NM_001844.5(COL2A1):c.531+16T>C
|
rs1940019842
|
0.00001
|
NM_001844.5(COL2A1):c.538G>A (p.Ala180Thr)
|
rs1592234056
|
0.00001
|
NM_001844.5(COL2A1):c.547A>G (p.Met183Val)
|
rs1939974978
|
0.00001
|
NM_001844.5(COL2A1):c.591A>T (p.Gly197=)
|
rs747274874
|
0.00001
|
NM_001844.5(COL2A1):c.709-4del
|
rs745987220
|
0.00001
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
NM_001844.5(COL2A1):c.725G>A (p.Arg242His)
|
rs1023703904
|
0.00001
|
NM_001844.5(COL2A1):c.733C>A (p.Pro245Thr)
|
rs1333696091
|
0.00001
|
NM_001844.5(COL2A1):c.738T>C (p.Gly246=)
|
rs1270950562
|
0.00001
|
NM_001844.5(COL2A1):c.75C>G (p.Gly25=)
|
rs1253191190
|
0.00001
|
NM_001844.5(COL2A1):c.760G>T (p.Asp254Tyr)
|
rs1012776131
|
0.00001
|
NM_001844.5(COL2A1):c.763-20A>C
|
rs549970833
|
0.00001
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
NM_001844.5(COL2A1):c.787G>A (p.Ala263Thr)
|
rs1939852622
|
0.00001
|
NM_001844.5(COL2A1):c.816+12C>T
|
rs1438234538
|
0.00001
|
NM_001844.5(COL2A1):c.817-10T>C
|
rs1171515555
|
0.00001
|
NM_001844.5(COL2A1):c.85+17C>T
|
rs1266788333
|
0.00001
|
NM_001844.5(COL2A1):c.871-12C>T
|
rs1939823565
|
0.00001
|
NM_001844.5(COL2A1):c.871-13T>C
|
rs1939823669
|
0.00001
|
NM_001844.5(COL2A1):c.871-5C>T
|
rs369642814
|
0.00001
|
NM_001844.5(COL2A1):c.876T>C (p.Tyr292=)
|
rs1232570426
|
0.00001
|
NM_001844.5(COL2A1):c.906G>A (p.Ala302=)
|
rs760573262
|
0.00001
|
NM_001844.5(COL2A1):c.948G>A (p.Glu316=)
|
rs1345906701
|
0.00001
|
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)
|
rs1380248932
|
0.00001
|
NM_001844.5(COL2A1):c.970-11G>A
|
rs372137436
|
0.00001
|
NM_001844.5(COL2A1):c.970-13G>T
|
rs1389856644
|
0.00001
|
NM_001844.5(COL2A1):c.970-19G>A
|
rs1020671021
|
0.00001
|
NC_000012.11:g.(?_48368049)_(48371518_?)del
|
|
|
NC_000012.11:g.(?_48380099)_(48380246_?)dup
|
|
|
NC_000012.11:g.(?_48390321)_(48391857_?)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.-5G>A
|
|
|
NM_001844.5(COL2A1):c.1002G>A (p.Arg334=)
|
rs2136604822
|
|
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)
|
rs755043901
|
|
NM_001844.5(COL2A1):c.1004C>T (p.Thr335Ile)
|
|
|
NM_001844.5(COL2A1):c.1007G>A (p.Gly336Asp)
|
rs2136604776
|
|
NM_001844.5(COL2A1):c.1009C>T (p.Pro337Ser)
|
rs766485093
|
|
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
|
|
|
NM_001844.5(COL2A1):c.1012G>C (p.Ala338Pro)
|
|
|
NM_001844.5(COL2A1):c.1015G>A (p.Gly339Ser)
|
rs2136604691
|
|
NM_001844.5(COL2A1):c.1016G>A (p.Gly339Asp)
|
rs2136604676
|
|
NM_001844.5(COL2A1):c.1023+10T>G
|
rs1939770057
|
|
NM_001844.5(COL2A1):c.1023+19C>T
|
rs2136604523
|
|
NM_001844.5(COL2A1):c.1023+1G>A
|
rs886043794
|
|
NM_001844.5(COL2A1):c.1023+3_1023+6del
|
|
|
NM_001844.5(COL2A1):c.1023+4A>G
|
rs1939770285
|
|
NM_001844.5(COL2A1):c.1023+7A>C
|
|
|
NM_001844.5(COL2A1):c.1024-1G>A
|
|
|
NM_001844.5(COL2A1):c.1024-202del
|
rs35920899
|
|
NM_001844.5(COL2A1):c.1024-20C>T
|
|
|
NM_001844.5(COL2A1):c.1024-264G>A
|
rs558418931
|
|
NM_001844.5(COL2A1):c.1024-2A>G
|
rs2136590607
|
|
NM_001844.5(COL2A1):c.1024-3C>T
|
|
|
NM_001844.5(COL2A1):c.1024-5C>T
|
|
|
NM_001844.5(COL2A1):c.1025G>T (p.Gly342Val)
|
|
|
NM_001844.5(COL2A1):c.1029C>G (p.Ala343=)
|
|
|
NM_001844.5(COL2A1):c.1029C>T (p.Ala343=)
|
|
|
NM_001844.5(COL2A1):c.102T>A (p.Cys34Ter)
|
|
|
NM_001844.5(COL2A1):c.102T>G (p.Cys34Trp)
|
rs2136637552
|
|
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter)
|
rs1565686896
|
|
NM_001844.5(COL2A1):c.1031G>A (p.Arg344Gln)
|
rs1315554899
|
|
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp)
|
rs1939617011
|
|
NM_001844.5(COL2A1):c.1034G>T (p.Gly345Val)
|
|
|
NM_001844.5(COL2A1):c.1038C>T (p.Asn346=)
|
rs1239066133
|
|
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys)
|
rs2136590405
|
|
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.1045C>G (p.Gln349Glu)
|
|
|
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)
|
rs1939615464
|
|
NM_001844.5(COL2A1):c.1052del (p.Gly351fs)
|
rs398123628
|
|
NM_001844.5(COL2A1):c.1053C>A (p.Gly351=)
|
|
|
NM_001844.5(COL2A1):c.1053C>G (p.Gly351=)
|
|
|
NM_001844.5(COL2A1):c.1053C>T (p.Gly351=)
|
|
|
NM_001844.5(COL2A1):c.1056del (p.Ala353fs)
|
rs794727185
|
|
NM_001844.5(COL2A1):c.1057G>T (p.Ala353Ser)
|
rs781554389
|
|
NM_001844.5(COL2A1):c.105G>A (p.Val35=)
|
|
|
NM_001844.5(COL2A1):c.105G>C (p.Val35=)
|
|
|
NM_001844.5(COL2A1):c.1062G>A (p.Gly354=)
|
|
|
NM_001844.5(COL2A1):c.1068+10T>C
|
|
|
NM_001844.5(COL2A1):c.1068+5G>A
|
rs1171878681
|
|
NM_001844.5(COL2A1):c.1068_1068+2dup
|
|
|
NM_001844.5(COL2A1):c.1069-10C>T
|
|
|
NM_001844.5(COL2A1):c.1069-15G>A
|
|
|
NM_001844.5(COL2A1):c.1069-16C>A
|
|
|
NM_001844.5(COL2A1):c.1069-16C>G
|
|
|
NM_001844.5(COL2A1):c.1069-27_1069-12dup
|
|
|
NM_001844.5(COL2A1):c.1069-2A>G
|
|
|
NM_001844.5(COL2A1):c.1069-4C>T
|
|
|
NM_001844.5(COL2A1):c.1071del (p.Pro358fs)
|
rs886043797
|
|
NM_001844.5(COL2A1):c.1074T>C (p.Pro358=)
|
|
|
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.1077C>T (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser)
|
|
|
NM_001844.5(COL2A1):c.1095T>G (p.Pro365=)
|
|
|
NM_001844.5(COL2A1):c.1100del (p.Phe367fs)
|
rs2136587619
|
|
NM_001844.5(COL2A1):c.1101C>T (p.Phe367=)
|
|
|
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.1104_1105del (p.Gly369fs)
|
rs2136587563
|
|
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg)
|
rs1085307657
|
|
NM_001844.5(COL2A1):c.1106G>A (p.Gly369Asp)
|
|
|
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)
|
rs794727202
|
|
NM_001844.5(COL2A1):c.1117G>T (p.Ala373Ser)
|
|
|
NM_001844.5(COL2A1):c.1117_1118del (p.Ala373fs)
|
|
|
NM_001844.5(COL2A1):c.1119_1122+16delinsACCCTGTTGC
|
rs1555167770
|
|
NM_001844.5(COL2A1):c.1122+15G>T
|
rs373544158
|
|
NM_001844.5(COL2A1):c.1122+2T>A
|
rs1939584878
|
|
NM_001844.5(COL2A1):c.1123-1G>A
|
rs1565684864
|
|
NM_001844.5(COL2A1):c.1123-1G>C
|
rs1565684864
|
|
NM_001844.5(COL2A1):c.1123-20T>C
|
|
|
NM_001844.5(COL2A1):c.1123-264C>G
|
rs10875715
|
|
NM_001844.5(COL2A1):c.1123-2A>G
|
|
|
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser)
|
rs1045330263
|
|
NM_001844.5(COL2A1):c.1131C>T (p.Ala377=)
|
|
|
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser)
|
rs2136579628
|
|
NM_001844.5(COL2A1):c.1132G>C (p.Gly378Arg)
|
rs2136579628
|
|
NM_001844.5(COL2A1):c.1132_1135dup (p.Pro379fs)
|
|
|
NM_001844.5(COL2A1):c.1135C>T (p.Pro379Ser)
|
|
|
NM_001844.5(COL2A1):c.113G>A (p.Gly38Glu)
|
|
|
NM_001844.5(COL2A1):c.1142G>A (p.Gly381Asp)
|
rs1323542030
|
|
NM_001844.5(COL2A1):c.1142G>C (p.Gly381Ala)
|
rs1323542030
|
|
NM_001844.5(COL2A1):c.1148_1165dup (p.Arg383_Ala388dup)
|
rs2136579443
|
|
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter)
|
rs1940161368
|
|
NM_001844.5(COL2A1):c.1169G>T (p.Gly390Val)
|
rs2136579397
|
|
NM_001844.5(COL2A1):c.1174C>T (p.Arg392Cys)
|
|
|
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)
|
rs1025202963
|
|
NM_001844.5(COL2A1):c.1180G>A (p.Glu394Lys)
|
rs2136579298
|
|
NM_001844.5(COL2A1):c.1181A>T (p.Glu394Val)
|
|
|
NM_001844.5(COL2A1):c.1182_1189dup (p.Thr397fs)
|
|
|
NM_001844.5(COL2A1):c.1183C>A (p.Pro395Thr)
|
|
|
NM_001844.5(COL2A1):c.1188T>A (p.Gly396=)
|
|
|
NM_001844.5(COL2A1):c.1189A>G (p.Thr397Ala)
|
rs2136579217
|
|
NM_001844.5(COL2A1):c.1189del (p.Thr397fs)
|
|
|
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg)
|
rs2136579152
|
|
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.1204G>T (p.Gly402Trp)
|
rs2136579085
|
|
NM_001844.5(COL2A1):c.1214G>A (p.Gly405Asp)
|
rs2136579057
|
|
NM_001844.5(COL2A1):c.1214del (p.Gly405fs)
|
rs794727225
|
|
NM_001844.5(COL2A1):c.121T>C (p.Tyr41His)
|
|
|
NM_001844.5(COL2A1):c.1221+1G>A
|
rs1399741348
|
|
NM_001844.5(COL2A1):c.1221+3A>C
|
|
|
NM_001844.5(COL2A1):c.1221+5G>C
|
rs1939497156
|
|
NM_001844.5(COL2A1):c.1221C>G (p.Ser407=)
|
|
|
NM_001844.5(COL2A1):c.1222-10C>A
|
|
|
NM_001844.5(COL2A1):c.1222-10C>G
|
|
|
NM_001844.5(COL2A1):c.1222-15T>C
|
rs1467346263
|
|
NM_001844.5(COL2A1):c.1222-15T>G
|
|
|
NM_001844.5(COL2A1):c.1222-2A>G
|
rs2136577259
|
|
NM_001844.5(COL2A1):c.1222-9C>T
|
rs2136577292
|
|
NM_001844.5(COL2A1):c.1226A>G (p.Asn409Ser)
|
|
|
NM_001844.5(COL2A1):c.1227C>T (p.Asn409=)
|
|
|
NM_001844.5(COL2A1):c.1230T>G (p.Pro410=)
|
rs2136577190
|
|
NM_001844.5(COL2A1):c.1231G>A (p.Gly411Arg)
|
rs2136577175
|
|
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>A (p.Gly417Glu)
|
|
|
NM_001844.5(COL2A1):c.1253C>A (p.Ala418Asp)
|
rs2136577068
|
|
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg)
|
rs867799325
|
|
NM_001844.5(COL2A1):c.1259G>A (p.Gly420Glu)
|
rs2136577028
|
|
NM_001844.5(COL2A1):c.1260A>C (p.Gly420=)
|
|
|
NM_001844.5(COL2A1):c.1262C>G (p.Ser421Cys)
|
|
|
NM_001844.5(COL2A1):c.1266+10G>A
|
rs2136576938
|
|
NM_001844.5(COL2A1):c.1266+13C>T
|
rs534149798
|
|
NM_001844.5(COL2A1):c.1266+18A>C
|
|
|
NM_001844.5(COL2A1):c.1266+2dup
|
|
|
NM_001844.5(COL2A1):c.1266+5G>A
|
rs1064794958
|
|
NM_001844.5(COL2A1):c.1267-11C>T
|
|
|
NM_001844.5(COL2A1):c.1267-14_1267-12del
|
|
|
NM_001844.5(COL2A1):c.1267-19C>G
|
|
|
NM_001844.5(COL2A1):c.1267-20C>T
|
rs1592220294
|
|
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp)
|
rs1555167449
|
|
NM_001844.5(COL2A1):c.126T>A (p.Asn42Lys)
|
|
|
NM_001844.5(COL2A1):c.126del (p.Asn42fs)
|
|
|
NM_001844.5(COL2A1):c.1271C>T (p.Ala424Val)
|
|
|
NM_001844.5(COL2A1):c.127G>C (p.Asp43His)
|
|
|
NM_001844.5(COL2A1):c.1283C>G (p.Ala428Gly)
|
rs1939466968
|
|
NM_001844.5(COL2A1):c.1283C>T (p.Ala428Val)
|
|
|
NM_001844.5(COL2A1):c.1284dup (p.Gly429fs)
|
|
|
NM_001844.5(COL2A1):c.1299_1302del (p.Phe433fs)
|
rs1555167439
|
|
NM_001844.5(COL2A1):c.1301C>A (p.Pro434His)
|
rs1939466091
|
|
NM_001844.5(COL2A1):c.1306C>T (p.Pro436Ser)
|
|
|
NM_001844.5(COL2A1):c.1309C>T (p.Arg437Trp)
|
rs917659377
|
|
NM_001844.5(COL2A1):c.1310G>A (p.Arg437Gln)
|
|
|
NM_001844.5(COL2A1):c.1312G>T (p.Gly438Cys)
|
rs2136575877
|
|
NM_001844.5(COL2A1):c.1314C>A (p.Gly438=)
|
rs1793934
|
|
NM_001844.5(COL2A1):c.1321G>A (p.Gly441Ser)
|
|
|
NM_001844.5(COL2A1):c.1323C>A (p.Gly441=)
|
|
|
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.1332T>C (p.Gly444=)
|
rs778780891
|
|
NM_001844.5(COL2A1):c.1334C>G (p.Ala445Gly)
|
|
|
NM_001844.5(COL2A1):c.1336A>T (p.Thr446Ser)
|
|
|
NM_001844.5(COL2A1):c.1337C>T (p.Thr446Ile)
|
|
|
NM_001844.5(COL2A1):c.133G>T (p.Asp45Tyr)
|
|
|
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>T (p.Gly450Cys)
|
|
|
NM_001844.5(COL2A1):c.1352C>G (p.Pro451Arg)
|
rs766208636
|
|
NM_001844.5(COL2A1):c.1352C>T (p.Pro451Leu)
|
|
|
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.135T>A (p.Asp45Glu)
|
rs375778172
|
|
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+1G>A
|
rs2136575516
|
|
NM_001844.5(COL2A1):c.1365+20C>A
|
|
|
NM_001844.5(COL2A1):c.1365+2dup
|
rs2136575491
|
|
NM_001844.5(COL2A1):c.1365+9C>T
|
rs2136575400
|
|
NM_001844.5(COL2A1):c.1366-18C>T
|
|
|
NM_001844.5(COL2A1):c.1366-1G>A
|
|
|
NM_001844.5(COL2A1):c.1366-1G>C
|
|
|
NM_001844.5(COL2A1):c.1366-4C>T
|
|
|
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter)
|
rs1555167368
|
|
NM_001844.5(COL2A1):c.1376G>C (p.Gly459Ala)
|
|
|
NM_001844.5(COL2A1):c.1377dup (p.Ile460fs)
|
rs2136574184
|
|
NM_001844.5(COL2A1):c.1382C>G (p.Ala461Gly)
|
|
|
NM_001844.5(COL2A1):c.1385del (p.Gly462fs)
|
rs2136574120
|
|
NM_001844.5(COL2A1):c.1386C>T (p.Gly462=)
|
|
|
NM_001844.5(COL2A1):c.1392A>G (p.Lys464=)
|
rs2136574082
|
|
NM_001844.5(COL2A1):c.1394G>T (p.Gly465Val)
|
|
|
NM_001844.5(COL2A1):c.1399C>T (p.Gln467Ter)
|
rs1565683713
|
|
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg)
|
rs1064793352
|
|
NM_001844.5(COL2A1):c.1403G>A (p.Gly468Asp)
|
|
|
NM_001844.5(COL2A1):c.1409del (p.Lys470fs)
|
rs2136573975
|
|
NM_001844.5(COL2A1):c.140G>C (p.Trp47Ser)
|
|
|
NM_001844.5(COL2A1):c.1419+11G>C
|
|
|
NM_001844.5(COL2A1):c.1419+11G>T
|
|
|
NM_001844.5(COL2A1):c.1419+13C>A
|
|
|
NM_001844.5(COL2A1):c.1419+14C>T
|
|
|
NM_001844.5(COL2A1):c.1419+18A>T
|
|
|
NM_001844.5(COL2A1):c.1419+20C>T
|
|
|
NM_001844.5(COL2A1):c.1419+4A>G
|
|
|
NM_001844.5(COL2A1):c.1419dup (p.Gly474fs)
|
rs2136573942
|
|
NM_001844.5(COL2A1):c.1420-114dup
|
rs34642877
|
|
NM_001844.5(COL2A1):c.1420-13dup
|
|
|
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.1420-5C>T
|
|
|
NM_001844.5(COL2A1):c.1423C>A (p.Pro475Thr)
|
|
|
NM_001844.5(COL2A1):c.1423C>T (p.Pro475Ser)
|
|
|
NM_001844.5(COL2A1):c.1424del (p.Pro475fs)
|
|
|
NM_001844.5(COL2A1):c.1427C>T (p.Ala476Val)
|
|
|
NM_001844.5(COL2A1):c.1428T>C (p.Ala476=)
|
|
|
NM_001844.5(COL2A1):c.1429G>C (p.Gly477Arg)
|
|
|
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter)
|
rs2136571484
|
|
NM_001844.5(COL2A1):c.1435del (p.Gln479fs)
|
rs2136571492
|
|
NM_001844.5(COL2A1):c.1436A>C (p.Gln479Pro)
|
|
|
NM_001844.5(COL2A1):c.1438G>T (p.Gly480Ter)
|
|
|
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu)
|
rs2136571455
|
|
NM_001844.5(COL2A1):c.1439del (p.Gly480fs)
|
|
|
NM_001844.5(COL2A1):c.144G>A (p.Lys48=)
|
|
|
NM_001844.5(COL2A1):c.1450C>A (p.Pro484Thr)
|
|
|
NM_001844.5(COL2A1):c.1450C>T (p.Pro484Ser)
|
|
|
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.1467C>T (p.Gly489=)
|
rs2136571245
|
|
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
|
|
|
NM_001844.5(COL2A1):c.1475G>A (p.Gly492Asp)
|
|
|
NM_001844.5(COL2A1):c.1480C>T (p.Arg494Cys)
|
|
|
NM_001844.5(COL2A1):c.1489_1492del (p.Pro497fs)
|
|
|
NM_001844.5(COL2A1):c.1499T>C (p.Val500Ala)
|
|
|
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.1513C>T (p.Pro505Ser)
|
rs865903887
|
|
NM_001844.5(COL2A1):c.1518del (p.Gly507fs)
|
rs2136570799
|
|
NM_001844.5(COL2A1):c.1520G>C (p.Gly507Ala)
|
|
|
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+10dup
|
rs1285069178
|
|
NM_001844.5(COL2A1):c.1527+135G>A
|
rs1592218346
|
|
NM_001844.5(COL2A1):c.1527+17G>C
|
|
|
NM_001844.5(COL2A1):c.1527+18G>C
|
rs2136570629
|
|
NM_001844.5(COL2A1):c.1527+4A>C
|
rs2136570708
|
|
NM_001844.5(COL2A1):c.1527+72G>A
|
|
|
NM_001844.5(COL2A1):c.1528-10G>A
|
rs1939380163
|
|
NM_001844.5(COL2A1):c.1528-18C>T
|
|
|
NM_001844.5(COL2A1):c.1528-4T>G
|
rs1939379600
|
|
NM_001844.5(COL2A1):c.1528-6C>T
|
|
|
NM_001844.5(COL2A1):c.1528-81G>A
|
|
|
NM_001844.5(COL2A1):c.1528G>C (p.Gly510Arg)
|
rs1555167157
|
|
NM_001844.5(COL2A1):c.1530T>C (p.Gly510=)
|
|
|
NM_001844.5(COL2A1):c.1536C>T (p.Pro512=)
|
|
|
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser)
|
rs1555167156
|
|
NM_001844.5(COL2A1):c.1541A>C (p.Asn514Thr)
|
|
|
NM_001844.5(COL2A1):c.1545C>T (p.Arg515=)
|
rs41317925
|
|
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)
|
rs886041895
|
|
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser)
|
|
|
NM_001844.5(COL2A1):c.1556del (p.Gly519fs)
|
rs1555167140
|
|
NM_001844.5(COL2A1):c.1561G>A (p.Asp521Asn)
|
|
|
NM_001844.5(COL2A1):c.1566T>C (p.Gly522=)
|
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
rs1246771678
|
|
NM_001844.5(COL2A1):c.156C>T (p.Cys52=)
|
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.1579A>G (p.Lys527Glu)
|
|
|
NM_001844.5(COL2A1):c.157C>T (p.Arg53Trp)
|
rs776744207
|
|
NM_001844.5(COL2A1):c.157del (p.Arg53fs)
|
|
|
NM_001844.5(COL2A1):c.1581+18G>A
|
|
|
NM_001844.5(COL2A1):c.1581+3G>A
|
|
|
NM_001844.5(COL2A1):c.1582-14G>A
|
|
|
NM_001844.5(COL2A1):c.1582-17C>G
|
|
|
NM_001844.5(COL2A1):c.1582-2A>T
|
|
|
NM_001844.5(COL2A1):c.1582-4G>A
|
rs2136568240
|
|
NM_001844.5(COL2A1):c.1582-8C>A
|
rs931889900
|
|
NM_001844.5(COL2A1):c.1584A>G (p.Gly528=)
|
|
|
NM_001844.5(COL2A1):c.1588C>T (p.Pro530Ser)
|
|
|
NM_001844.5(COL2A1):c.1594G>C (p.Glu532Gln)
|
|
|
NM_001844.5(COL2A1):c.1597C>A (p.Arg533=)
|
rs1085307608
|
|
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)
|
rs1085307608
|
|
NM_001844.5(COL2A1):c.1598G>A (p.Arg533Gln)
|
|
|
NM_001844.5(COL2A1):c.15G>A (p.Gly5=)
|
|
|
NM_001844.5(COL2A1):c.1602G>T (p.Gly534=)
|
|
|
NM_001844.5(COL2A1):c.160A>T (p.Ile54Phe)
|
rs1940157670
|
|
NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser)
|
rs2136567996
|
|
NM_001844.5(COL2A1):c.1621C>T (p.Pro541Ser)
|
rs2136567965
|
|
NM_001844.5(COL2A1):c.162C>A (p.Ile54=)
|
|
|
NM_001844.5(COL2A1):c.1630G>A (p.Ala544Thr)
|
rs746870475
|
|
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)
|
rs886044555
|
|
NM_001844.5(COL2A1):c.163del (p.Cys55fs)
|
|
|
NM_001844.5(COL2A1):c.1643del (p.Pro548fs)
|
|
|
NM_001844.5(COL2A1):c.1647C>A (p.Gly549=)
|
|
|
NM_001844.5(COL2A1):c.1648C>T (p.Arg550Cys)
|
rs1555167091
|
|
NM_001844.5(COL2A1):c.1649G>A (p.Arg550His)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.164G>A (p.Cys55Tyr)
|
|
|
NM_001844.5(COL2A1):c.1662T>C (p.Pro554=)
|
|
|
NM_001844.5(COL2A1):c.1666C>T (p.Leu556Phe)
|
|
|
NM_001844.5(COL2A1):c.166G>A (p.Val56Ile)
|
rs1940157547
|
|
NM_001844.5(COL2A1):c.1671T>C (p.Pro557=)
|
|
|
NM_001844.5(COL2A1):c.1673del (p.Gly558fs)
|
|
|
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.1680+10A>G
|
|
|
NM_001844.5(COL2A1):c.1680+15del
|
|
|
NM_001844.5(COL2A1):c.1680+16G>T
|
|
|
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.1680+8_1680+9delinsTA
|
rs2136567481
|
|
NM_001844.5(COL2A1):c.1681-18T>C
|
|
|
NM_001844.5(COL2A1):c.1681-1dup
|
rs1555167067
|
|
NM_001844.5(COL2A1):c.1681-2A>G
|
rs2136566722
|
|
NM_001844.5(COL2A1):c.1681-5C>A
|
|
|
NM_001844.5(COL2A1):c.1681-5C>T
|
|
|
NM_001844.5(COL2A1):c.1681-7A>G
|
rs2136566770
|
|
NM_001844.5(COL2A1):c.1681G>A (p.Gly561Ser)
|
|
|
NM_001844.5(COL2A1):c.1682G>T (p.Gly561Val)
|
rs1939349946
|
|
NM_001844.5(COL2A1):c.1683T>A (p.Gly561=)
|
rs2136566684
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.1698T>C (p.Pro566=)
|
rs1939348864
|
|
NM_001844.5(COL2A1):c.1699G>A (p.Gly567Ser)
|
rs2136566584
|
|
NM_001844.5(COL2A1):c.1702G>A (p.Asp568Asn)
|
|
|
NM_001844.5(COL2A1):c.1703_1705dup (p.Asp568dup)
|
rs2136566553
|
|
NM_001844.5(COL2A1):c.1703del (p.Asp568fs)
|
rs2136566565
|
|
NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg)
|
rs1064797167
|
|
NM_001844.5(COL2A1):c.1709dup (p.Pro571fs)
|
rs1555167058
|
|
NM_001844.5(COL2A1):c.1716A>C (p.Gln572His)
|
|
|
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser)
|
rs886042741
|
|
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg)
|
rs886042741
|
|
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer)
|
rs2136637244
|
|
NM_001844.5(COL2A1):c.1720A>C (p.Lys574Gln)
|
rs2136566507
|
|
NM_001844.5(COL2A1):c.1726G>A (p.Gly576Ser)
|
rs2136566494
|
|
NM_001844.5(COL2A1):c.1732T>G (p.Ser578Ala)
|
|
|
NM_001844.5(COL2A1):c.1734+3A>C
|
rs1057521852
|
|
NM_001844.5(COL2A1):c.1734+9A>G
|
|
|
NM_001844.5(COL2A1):c.1735-15T>C
|
rs1592216257
|
|
NM_001844.5(COL2A1):c.1735-2A>C
|
|
|
NM_001844.5(COL2A1):c.1735-7C>G
|
|
|
NM_001844.5(COL2A1):c.1735G>A (p.Gly579Arg)
|
rs1939320461
|
|
NM_001844.5(COL2A1):c.1739C>A (p.Ala580Asp)
|
|
|
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.1751A>G (p.Asp584Gly)
|
|
|
NM_001844.5(COL2A1):c.1759C>T (p.Pro587Ser)
|
|
|
NM_001844.5(COL2A1):c.1760del (p.Pro587fs)
|
rs2136564288
|
|
NM_001844.5(COL2A1):c.1763G>A (p.Gly588Glu)
|
|
|
NM_001844.5(COL2A1):c.1764A>G (p.Gly588=)
|
|
|
NM_001844.5(COL2A1):c.1765C>G (p.Pro589Ala)
|
|
|
NM_001844.5(COL2A1):c.1769C>T (p.Pro590Leu)
|
|
|
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg)
|
rs886043712
|
|
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.1787G>A (p.Arg596His)
|
rs1057524199
|
|
NM_001844.5(COL2A1):c.1789G>A (p.Gly597Arg)
|
rs2136564137
|
|
NM_001844.5(COL2A1):c.178G>A (p.Gly60Arg)
|
|
|
NM_001844.5(COL2A1):c.1795C>T (p.Pro599Ser)
|
|
|
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val)
|
rs794727438
|
|
NM_001844.5(COL2A1):c.179G>C (p.Gly60Ala)
|
|
|
NM_001844.5(COL2A1):c.1802T>C (p.Val601Ala)
|
rs886043814
|
|
NM_001844.5(COL2A1):c.180G>A (p.Gly60=)
|
|
|
NM_001844.5(COL2A1):c.180G>C (p.Gly60=)
|
|
|
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg)
|
rs886041945
|
|
NM_001844.5(COL2A1):c.1818C>T (p.Gly606=)
|
|
|
NM_001844.5(COL2A1):c.1824_1832del (p.Lys608_Ala610del)
|
rs2136563934
|
|
NM_001844.5(COL2A1):c.1826G>C (p.Gly609Ala)
|
|
|
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
|
rs140580674
|
|
NM_001844.5(COL2A1):c.1829C>A (p.Ala610Asp)
|
rs1293965789
|
|
NM_001844.5(COL2A1):c.1832A>C (p.Asn611Thr)
|
rs142492439
|
|
NM_001844.5(COL2A1):c.1833+18C>T
|
|
|
NM_001844.5(COL2A1):c.1833+1G>A
|
rs1939312423
|
|
NM_001844.5(COL2A1):c.1833+2dup
|
|
|
NM_001844.5(COL2A1):c.1833+9T>C
|
|
|
NM_001844.5(COL2A1):c.1834-18G>A
|
rs750965381
|
|
NM_001844.5(COL2A1):c.1836_1837inv (p.Glu613Lys)
|
|
|
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.1844_1846del (p.Gly615_Lys616delinsGlu)
|
rs2136561735
|
|
NM_001844.5(COL2A1):c.1848A>C (p.Lys616Asn)
|
rs1001585299
|
|
NM_001844.5(COL2A1):c.1853G>A (p.Gly618Asp)
|
rs1480620991
|
|
NM_001844.5(COL2A1):c.1859del (p.Lys620fs)
|
|
|
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg)
|
rs794727462
|
|
NM_001844.5(COL2A1):c.1862G>T (p.Gly621Val)
|
rs1939281881
|
|
NM_001844.5(COL2A1):c.1866G>A (p.Leu622=)
|
rs773380528
|
|
NM_001844.5(COL2A1):c.1869del (p.Gly624fs)
|
|
|
NM_001844.5(COL2A1):c.1870G>C (p.Gly624Arg)
|
|
|
NM_001844.5(COL2A1):c.1876C>T (p.Pro626Ser)
|
|
|
NM_001844.5(COL2A1):c.1879G>A (p.Gly627Ser)
|
|
|
NM_001844.5(COL2A1):c.1880G>A (p.Gly627Asp)
|
rs1939280733
|
|
NM_001844.5(COL2A1):c.1886G>A (p.Arg629Lys)
|
rs1939280357
|
|
NM_001844.5(COL2A1):c.1887+16C>T
|
|
|
NM_001844.5(COL2A1):c.1887+1G>T
|
rs2136561510
|
|
NM_001844.5(COL2A1):c.1887+5G>A
|
|
|
NM_001844.5(COL2A1):c.1887+9C>T
|
|
|
NM_001844.5(COL2A1):c.1888-11C>T
|
|
|
NM_001844.5(COL2A1):c.1888-14del
|
rs2136559359
|
|
NM_001844.5(COL2A1):c.1888-18_1888-14dup
|
|
|
NM_001844.5(COL2A1):c.1888-2A>G
|
|
|
NM_001844.5(COL2A1):c.1888G>A (p.Gly630Ser)
|
rs1326550771
|
|
NM_001844.5(COL2A1):c.1896T>C (p.Pro632=)
|
rs975857358
|
|
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser)
|
rs1555166826
|
|
NM_001844.5(COL2A1):c.1907G>A (p.Gly636Asp)
|
rs2136559202
|
|
NM_001844.5(COL2A1):c.1911G>A (p.Glu637=)
|
|
|
NM_001844.5(COL2A1):c.1913C>A (p.Thr638Lys)
|
rs41263847
|
|
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)
|
rs1057518908
|
|
NM_001844.5(COL2A1):c.1919C>A (p.Ala640Asp)
|
|
|
NM_001844.5(COL2A1):c.1919C>T (p.Ala640Val)
|
|
|
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.1926A>C (p.Gly642=)
|
|
|
NM_001844.5(COL2A1):c.1926A>T (p.Gly642=)
|
|
|
NM_001844.5(COL2A1):c.1928C>A (p.Pro643His)
|
|
|
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)
|
rs121912897
|
|
NM_001844.5(COL2A1):c.1930C>A (p.Pro644Thr)
|
|
|
NM_001844.5(COL2A1):c.1932T>G (p.Pro644=)
|
|
|
NM_001844.5(COL2A1):c.1932del (p.Gly645fs)
|
|
|
NM_001844.5(COL2A1):c.1934G>A (p.Gly645Asp)
|
rs1592214400
|
|
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn)
|
rs1940156255
|
|
NM_001844.5(COL2A1):c.1941+12C>T
|
rs2136558760
|
|
NM_001844.5(COL2A1):c.1941+17C>A
|
|
|
NM_001844.5(COL2A1):c.1941+17C>G
|
rs200048687
|
|
NM_001844.5(COL2A1):c.1941+1G>A
|
rs1555166808
|
|
NM_001844.5(COL2A1):c.1941+1G>T
|
|
|
NM_001844.5(COL2A1):c.1942-13_1942-9del
|
|
|
NM_001844.5(COL2A1):c.1942-2A>G
|
rs2136556938
|
|
NM_001844.5(COL2A1):c.1944A>G (p.Gly648=)
|
|
|
NM_001844.5(COL2A1):c.1944A>T (p.Gly648=)
|
|
|
NM_001844.5(COL2A1):c.1957C>A (p.Arg653=)
|
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1958G>A (p.Arg653Gln)
|
rs1131691824
|
|
NM_001844.5(COL2A1):c.1960G>A (p.Gly654Ser)
|
rs1322543333
|
|
NM_001844.5(COL2A1):c.1963G>A (p.Glu655Lys)
|
|
|
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys)
|
rs1269619781
|
|
NM_001844.5(COL2A1):c.1972G>A (p.Ala658Thr)
|
rs2136556746
|
|
NM_001844.5(COL2A1):c.1977T>C (p.Pro659=)
|
rs1409464285
|
|
NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val)
|
|
|
NM_001844.5(COL2A1):c.1989G>A (p.Gly663=)
|
|
|
NM_001844.5(COL2A1):c.1990T>C (p.Phe664Leu)
|
rs2136556644
|
|
NM_001844.5(COL2A1):c.1995+11G>A
|
|
|
NM_001844.5(COL2A1):c.1995+13A>G
|
rs1381091347
|
|
NM_001844.5(COL2A1):c.1995+1G>A
|
rs2136556600
|
|
NM_001844.5(COL2A1):c.1995+1G>T
|
rs2136556600
|
|
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.1995+7G>A
|
|
|
NM_001844.5(COL2A1):c.1996-10C>A
|
rs144804336
|
|
NM_001844.5(COL2A1):c.1996-1G>A
|
rs886041935
|
|
NM_001844.5(COL2A1):c.1996-1G>C
|
rs886041935
|
|
NM_001844.5(COL2A1):c.1996-3T>C
|
|
|
NM_001844.5(COL2A1):c.1996-8G>T
|
rs2136555206
|
|
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>A (p.Leu667Ile)
|
|
|
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.2003C>T (p.Pro668Leu)
|
rs1259744514
|
|
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)
|
rs1939205327
|
|
NM_001844.5(COL2A1):c.2007C>T (p.Gly669=)
|
rs2136555077
|
|
NM_001844.5(COL2A1):c.2007_2015del (p.670PPG[1])
|
rs2136555011
|
|
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.2018C>T (p.Pro673Leu)
|
rs570533789
|
|
NM_001844.5(COL2A1):c.2023G>C (p.Gly675Arg)
|
rs1423422339
|
|
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp)
|
rs1565679062
|
|
NM_001844.5(COL2A1):c.2029_2030delinsAA (p.Gly677Asn)
|
rs2136554903
|
|
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu)
|
rs2136554879
|
|
NM_001844.5(COL2A1):c.2033del (p.Gly678fs)
|
|
|
NM_001844.5(COL2A1):c.2042G>T (p.Gly681Val)
|
rs2136554860
|
|
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+12G>A
|
rs766863177
|
|
NM_001844.5(COL2A1):c.2049+1G>T
|
|
|
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.2049+8T>C
|
rs906839760
|
|
NM_001844.5(COL2A1):c.204C>G (p.Ile68Met)
|
|
|
NM_001844.5(COL2A1):c.2050-1G>T
|
rs2136552988
|
|
NM_001844.5(COL2A1):c.2050-8T>C
|
rs755168138
|
|
NM_001844.5(COL2A1):c.2050G>C (p.Gly684Arg)
|
|
|
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2051G>T (p.Gly684Val)
|
rs2136552948
|
|
NM_001844.5(COL2A1):c.2053G>A (p.Val685Ile)
|
|
|
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
NM_001844.5(COL2A1):c.205T>C (p.Cys69Arg)
|
|
|
NM_001844.5(COL2A1):c.2068G>A (p.Gly690Arg)
|
rs1321119554
|
|
NM_001844.5(COL2A1):c.2071G>T (p.Ala691Ser)
|
|
|
NM_001844.5(COL2A1):c.2072C>G (p.Ala691Gly)
|
|
|
NM_001844.5(COL2A1):c.2072C>T (p.Ala691Val)
|
|
|
NM_001844.5(COL2A1):c.2078G>A (p.Gly693Asp)
|
rs2136552735
|
|
NM_001844.5(COL2A1):c.2080C>T (p.Leu694Phe)
|
|
|
NM_001844.5(COL2A1):c.2082C>T (p.Leu694=)
|
|
|
NM_001844.5(COL2A1):c.2089C>T (p.Pro697Ser)
|
|
|
NM_001844.5(COL2A1):c.2094+11T>C
|
|
|
NM_001844.5(COL2A1):c.2094+15G>A
|
|
|
NM_001844.5(COL2A1):c.2094+1G>A
|
|
|
NM_001844.5(COL2A1):c.2094+1G>C
|
rs2136552560
|
|
NM_001844.5(COL2A1):c.2094+3G>T
|
|
|
NM_001844.5(COL2A1):c.2094+5G>A
|
|
|
NM_001844.5(COL2A1):c.2094+8T>A
|
rs759292387
|
|
NM_001844.5(COL2A1):c.2094_2094+1dup
|
rs2136552575
|
|
NM_001844.5(COL2A1):c.2095-14T>C
|
|
|
NM_001844.5(COL2A1):c.2095-14dup
|
|
|
NM_001844.5(COL2A1):c.2095-15G>A
|
rs375487711
|
|
NM_001844.5(COL2A1):c.2095-15G>T
|
|
|
NM_001844.5(COL2A1):c.2095-16G>C
|
|
|
NM_001844.5(COL2A1):c.2095-19C>T
|
|
|
NM_001844.5(COL2A1):c.2095-1G>A
|
|
|
NM_001844.5(COL2A1):c.2095-4G>T
|
|
|
NM_001844.5(COL2A1):c.2095-8T>C
|
rs2136551762
|
|
NM_001844.5(COL2A1):c.2095G>C (p.Gly699Arg)
|
rs2136551691
|
|
NM_001844.5(COL2A1):c.209A>G (p.Glu70Gly)
|
|
|
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)
|
rs1555166555
|
|
NM_001844.5(COL2A1):c.2102G>A (p.Arg701Gln)
|
|
|
NM_001844.5(COL2A1):c.2103_2108dup (p.Gly702_Phe703insLeuGly)
|
|
|
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.2126C>G (p.Ser709Cys)
|
rs771198337
|
|
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
|
|
|
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.2140G>C (p.Gly714Arg)
|
|
|
NM_001844.5(COL2A1):c.2141G>T (p.Gly714Val)
|
rs1555166537
|
|
NM_001844.5(COL2A1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_001844.5(COL2A1):c.214G>A (p.Val72Met)
|
rs755705390
|
|
NM_001844.5(COL2A1):c.2150del (p.Gly717fs)
|
rs2136551308
|
|
NM_001844.5(COL2A1):c.2152C>T (p.Pro718Ser)
|
|
|
NM_001844.5(COL2A1):c.2156G>C (p.Arg719Pro)
|
rs535980544
|
|
NM_001844.5(COL2A1):c.2156G>T (p.Arg719Leu)
|
rs535980544
|
|
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
|
|
|
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)
|
rs1555166528
|
|
NM_001844.5(COL2A1):c.2160C>T (p.Gly720=)
|
|
|
NM_001844.5(COL2A1):c.2164C>T (p.Pro722Ser)
|
|
|
NM_001844.5(COL2A1):c.2165C>G (p.Pro722Arg)
|
rs1939173724
|
|
NM_001844.5(COL2A1):c.2165C>T (p.Pro722Leu)
|
|
|
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)
|
rs1939173389
|
|
NM_001844.5(COL2A1):c.2168G>A (p.Gly723Asp)
|
rs2136551055
|
|
NM_001844.5(COL2A1):c.2169C>T (p.Gly723=)
|
|
|
NM_001844.5(COL2A1):c.2177G>A (p.Gly726Asp)
|
|
|
NM_001844.5(COL2A1):c.2178C>T (p.Gly726=)
|
rs760367020
|
|
NM_001844.5(COL2A1):c.2184T>C (p.Asp728=)
|
|
|
NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser)
|
|
|
NM_001844.5(COL2A1):c.2188C>T (p.Pro730Ser)
|
rs2136550915
|
|
NM_001844.5(COL2A1):c.2190C>T (p.Pro730=)
|
|
|
NM_001844.5(COL2A1):c.2193+101G>T
|
rs11168337
|
|
NM_001844.5(COL2A1):c.2193+5G>C
|
|
|
NM_001844.5(COL2A1):c.2194-17C>G
|
|
|
NM_001844.5(COL2A1):c.2194-2A>G
|
|
|
NM_001844.5(COL2A1):c.2194-54dup
|
rs3842680
|
|
NM_001844.5(COL2A1):c.2194-6C>T
|
|
|
NM_001844.5(COL2A1):c.2194G>C (p.Gly732Arg)
|
rs1221069783
|
|
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp)
|
rs1555166457
|
|
NM_001844.5(COL2A1):c.2197G>A (p.Ala733Thr)
|
|
|
NM_001844.5(COL2A1):c.2198C>A (p.Ala733Glu)
|
rs1939157535
|
|
NM_001844.5(COL2A1):c.2199A>T (p.Ala733=)
|
|
|
NM_001844.5(COL2A1):c.2200T>A (p.Ser734Thr)
|
|
|
NM_001844.5(COL2A1):c.2200del (p.Ser734fs)
|
|
|
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val)
|
rs1367822001
|
|
NM_001844.5(COL2A1):c.2214C>T (p.Gly738=)
|
|
|
NM_001844.5(COL2A1):c.2215C>T (p.Pro739Ser)
|
rs766460153
|
|
NM_001844.5(COL2A1):c.2217C>T (p.Pro739=)
|
|
|
NM_001844.5(COL2A1):c.2219C>G (p.Pro740Arg)
|
|
|
NM_001844.5(COL2A1):c.2219C>T (p.Pro740Leu)
|
|
|
NM_001844.5(COL2A1):c.2219del (p.Pro740fs)
|
rs1565677720
|
|
NM_001844.5(COL2A1):c.2219dup (p.Gly741fs)
|
rs1565677720
|
|
NM_001844.5(COL2A1):c.2222G>A (p.Gly741Glu)
|
|
|
NM_001844.5(COL2A1):c.2223G>A (p.Gly741=)
|
|
|
NM_001844.5(COL2A1):c.222C>G (p.Asp74Glu)
|
|
|
NM_001844.5(COL2A1):c.2233_2234del (p.Pro745fs)
|
|
|
NM_001844.5(COL2A1):c.2235T>G (p.Pro745=)
|
|
|
NM_001844.5(COL2A1):c.2245C>T (p.Gln749Ter)
|
rs2136549115
|
|
NM_001844.5(COL2A1):c.224G>T (p.Cys75Phe)
|
rs2136637051
|
|
NM_001844.5(COL2A1):c.2257G>A (p.Gly753Ser)
|
rs2136549071
|
|
NM_001844.5(COL2A1):c.2259C>G (p.Gly753=)
|
|
|
NM_001844.5(COL2A1):c.225C>A (p.Cys75Ter)
|
|
|
NM_001844.5(COL2A1):c.2265G>T (p.Arg755Ser)
|
|
|
NM_001844.5(COL2A1):c.2267G>T (p.Gly756Val)
|
|
|
NM_001844.5(COL2A1):c.2268A>C (p.Gly756=)
|
|
|
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.2281G>T (p.Ala761Ser)
|
|
|
NM_001844.5(COL2A1):c.2288_2290delinsTCT (p.Pro763_Lys764delinsLeuTer)
|
rs2136548888
|
|
NM_001844.5(COL2A1):c.2295C>G (p.Gly765=)
|
rs2276454
|
|
NM_001844.5(COL2A1):c.2296G>A (p.Asp766Asn)
|
|
|
NM_001844.5(COL2A1):c.2301+13G>T
|
|
|
NM_001844.5(COL2A1):c.2301+17C>T
|
|
|
NM_001844.5(COL2A1):c.2301+1G>T
|
|
|
NM_001844.5(COL2A1):c.2301+20C>G
|
rs1939150194
|
|
NM_001844.5(COL2A1):c.2301+2dup
|
|
|
NM_001844.5(COL2A1):c.2301+4A>T
|
|
|
NM_001844.5(COL2A1):c.2302-10C>G
|
|
|
NM_001844.5(COL2A1):c.2302-10C>T
|
rs201655768
|
|
NM_001844.5(COL2A1):c.2302-10del
|
rs1183081521
|
|
NM_001844.5(COL2A1):c.2302-19T>C
|
|
|
NM_001844.5(COL2A1):c.2302-20C>G
|
|
|
NM_001844.5(COL2A1):c.2302-20C>T
|
|
|
NM_001844.5(COL2A1):c.2302-20_2302-17del
|
|
|
NM_001844.5(COL2A1):c.2302-6C>T
|
|
|
NM_001844.5(COL2A1):c.2302-7C>T
|
|
|
NM_001844.5(COL2A1):c.2305_2309del (p.Asp769fs)
|
rs2136546785
|
|
NM_001844.5(COL2A1):c.230G>A (p.Ser77Asn)
|
|
|
NM_001844.5(COL2A1):c.2312G>C (p.Gly771Ala)
|
|
|
NM_001844.5(COL2A1):c.2325T>C (p.Pro775=)
|
|
|
NM_001844.5(COL2A1):c.2329G>T (p.Gly777Ter)
|
|
|
NM_001844.5(COL2A1):c.233C>T (p.Pro78Leu)
|
|
|
NM_001844.5(COL2A1):c.233dup (p.Pro78_Glu79insTer)
|
|
|
NM_001844.5(COL2A1):c.2343G>A (p.Lys781=)
|
|
|
NM_001844.5(COL2A1):c.2344_2355+5del
|
|
|
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser)
|
rs2136546628
|
|
NM_001844.5(COL2A1):c.234T>A (p.Pro78=)
|
|
|
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)
|
rs886043410
|
|
NM_001844.5(COL2A1):c.2354G>A (p.Arg785Gln)
|
rs759073173
|
|
NM_001844.5(COL2A1):c.2355+11G>T
|
rs1939124456
|
|
NM_001844.5(COL2A1):c.2355+13G>A
|
|
|
NM_001844.5(COL2A1):c.2355+16C>A
|
|
|
NM_001844.5(COL2A1):c.2355+16C>T
|
|
|
NM_001844.5(COL2A1):c.2355+1G>A
|
rs1939124946
|
|
NM_001844.5(COL2A1):c.2355+20T>C
|
|
|
NM_001844.5(COL2A1):c.2355+4del
|
|
|
NM_001844.5(COL2A1):c.2355+5G>A
|
rs1555166294
|
|
NM_001844.5(COL2A1):c.2355+5G>T
|
rs1555166294
|
|
NM_001844.5(COL2A1):c.2356-16_2359del
|
rs1939108031
|
|
NM_001844.5(COL2A1):c.2356-1G>A
|
rs1341401004
|
|
NM_001844.5(COL2A1):c.2356-4G>T
|
rs767986491
|
|
NM_001844.5(COL2A1):c.2361G>A (p.Leu787=)
|
|
|
NM_001844.5(COL2A1):c.2373T>C (p.Ile791=)
|
rs2136544889
|
|
NM_001844.5(COL2A1):c.2376C>G (p.Gly792=)
|
|
|
NM_001844.5(COL2A1):c.2376C>T (p.Gly792=)
|
rs886038490
|
|
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.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.2385C>T (p.Gly795=)
|
|
|
NM_001844.5(COL2A1):c.2392G>A (p.Gly798Ser)
|
rs2136544686
|
|
NM_001844.5(COL2A1):c.2393_2406del (p.Gly798fs)
|
rs2136544532
|
|
NM_001844.5(COL2A1):c.2403C>G (p.Gly801=)
|
|
|
NM_001844.5(COL2A1):c.2406G>T (p.Glu802Asp)
|
rs2136544523
|
|
NM_001844.5(COL2A1):c.2406del (p.Lys803fs)
|
|
|
NM_001844.5(COL2A1):c.2407_2409del (p.Lys803del)
|
rs1057518139
|
|
NM_001844.5(COL2A1):c.2409+10G>A
|
|
|
NM_001844.5(COL2A1):c.2409+10G>C
|
|
|
NM_001844.5(COL2A1):c.2410-12C>T
|
|
|
NM_001844.5(COL2A1):c.2410-13T>G
|
rs574507277
|
|
NM_001844.5(COL2A1):c.2410-1G>A
|
rs2136542198
|
|
NM_001844.5(COL2A1):c.2410-20C>T
|
|
|
NM_001844.5(COL2A1):c.2410-79C>A
|
rs79231959
|
|
NM_001844.5(COL2A1):c.2410-9C>T
|
rs1469695989
|
|
NM_001844.5(COL2A1):c.2415A>G (p.Glu805=)
|
rs772628060
|
|
NM_001844.5(COL2A1):c.2416G>T (p.Val806Phe)
|
|
|
NM_001844.5(COL2A1):c.2419G>A (p.Gly807Arg)
|
rs2136542141
|
|
NM_001844.5(COL2A1):c.2423C>T (p.Pro808Leu)
|
|
|
NM_001844.5(COL2A1):c.2426C>T (p.Pro809Leu)
|
|
|
NM_001844.5(COL2A1):c.2427T>C (p.Pro809=)
|
|
|
NM_001844.5(COL2A1):c.2428G>A (p.Gly810Ser)
|
|
|
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys)
|
rs794727596
|
|
NM_001844.5(COL2A1):c.2429G>C (p.Gly810Ala)
|
|
|
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.2436A>G (p.Ala812=)
|
rs2136542036
|
|
NM_001844.5(COL2A1):c.2440A>T (p.Ser814Cys)
|
|
|
NM_001844.5(COL2A1):c.244T>G (p.Phe82Val)
|
rs2136636961
|
|
NM_001844.5(COL2A1):c.2451T>C (p.Ala817=)
|
rs1436214253
|
|
NM_001844.5(COL2A1):c.2452C>T (p.Arg818Cys)
|
rs1345434851
|
|
NM_001844.5(COL2A1):c.2453G>A (p.Arg818His)
|
|
|
NM_001844.5(COL2A1):c.2453G>C (p.Arg818Pro)
|
rs376834551
|
|
NM_001844.5(COL2A1):c.2453G>T (p.Arg818Leu)
|
|
|
NM_001844.5(COL2A1):c.2455G>A (p.Gly819Ser)
|
rs2136541965
|
|
NM_001844.5(COL2A1):c.2463+13C>A
|
|
|
NM_001844.5(COL2A1):c.2463+13C>T
|
|
|
NM_001844.5(COL2A1):c.2463+15del
|
rs1236539574
|
|
NM_001844.5(COL2A1):c.2463G>C (p.Pro821=)
|
|
|
NM_001844.5(COL2A1):c.2464-17_2464-16delinsTT
|
|
|
NM_001844.5(COL2A1):c.2464-18T>C
|
|
|
NM_001844.5(COL2A1):c.2464-1G>T
|
|
|
NM_001844.5(COL2A1):c.2464-75A>C
|
rs2276458
|
|
NM_001844.5(COL2A1):c.2464-7C>G
|
|
|
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.2478G>A (p.Glu826=)
|
rs2136539866
|
|
NM_001844.5(COL2A1):c.2478_2479del (p.Glu826fs)
|
rs2136539854
|
|
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala)
|
rs2136539832
|
|
NM_001844.5(COL2A1):c.2484G>A (p.Gly828=)
|
rs1793940
|
|
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala)
|
rs745794356
|
|
NM_001844.5(COL2A1):c.2486C>A (p.Pro829His)
|
|
|
NM_001844.5(COL2A1):c.248G>C (p.Gly83Ala)
|
|
|
NM_001844.5(COL2A1):c.2490C>A (p.Pro830=)
|
rs772029902
|
|
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg)
|
rs886044702
|
|
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.2494C>G (p.Pro832Ala)
|
|
|
NM_001844.5(COL2A1):c.2500_2501delinsAA (p.Gly834Lys)
|
|
|
NM_001844.5(COL2A1):c.2506G>T (p.Ala836Ser)
|
|
|
NM_001844.5(COL2A1):c.2509G>C (p.Gly837Arg)
|
rs1939031863
|
|
NM_001844.5(COL2A1):c.250G>A (p.Glu84Lys)
|
|
|
NM_001844.5(COL2A1):c.250del (p.Glu84fs)
|
|
|
NM_001844.5(COL2A1):c.2516C>T (p.Pro839Leu)
|
rs1455812046
|
|
NM_001844.5(COL2A1):c.2517+16C>T
|
rs375827442
|
|
NM_001844.5(COL2A1):c.2517+2T>C
|
|
|
NM_001844.5(COL2A1):c.2518-3T>C
|
rs1305461428
|
|
NM_001844.5(COL2A1):c.2518-3T>G
|
|
|
NM_001844.5(COL2A1):c.2518G>C (p.Gly840Arg)
|
|
|
NM_001844.5(COL2A1):c.251A>G (p.Glu84Gly)
|
|
|
NM_001844.5(COL2A1):c.2523T>C (p.Ala841=)
|
rs752418799
|
|
NM_001844.5(COL2A1):c.252G>A (p.Glu84=)
|
|
|
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.2545G>A (p.Gly849Ser)
|
|
|
NM_001844.5(COL2A1):c.2545G>T (p.Gly849Cys)
|
|
|
NM_001844.5(COL2A1):c.2552A>C (p.Gln851Pro)
|
rs1057524266
|
|
NM_001844.5(COL2A1):c.2559G>T (p.Glu853Asp)
|
|
|
NM_001844.5(COL2A1):c.2562C>A (p.Ala854=)
|
|
|
NM_001844.5(COL2A1):c.2563G>A (p.Gly855Ser)
|
|
|
NM_001844.5(COL2A1):c.2563G>C (p.Gly855Arg)
|
rs1193507525
|
|
NM_001844.5(COL2A1):c.2564G>C (p.Gly855Ala)
|
rs2136537795
|
|
NM_001844.5(COL2A1):c.2566C>T (p.Gln856Ter)
|
rs1565674604
|
|
NM_001844.5(COL2A1):c.2568G>A (p.Gln856=)
|
|
|
NM_001844.5(COL2A1):c.2570A>G (p.Lys857Arg)
|
rs1939002524
|
|
NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser)
|
rs2136537746
|
|
NM_001844.5(COL2A1):c.2575G>A (p.Asp859Asn)
|
|
|
NM_001844.5(COL2A1):c.2577T>C (p.Asp859=)
|
rs1939002227
|
|
NM_001844.5(COL2A1):c.2577dup (p.Ala860fs)
|
rs2136537698
|
|
NM_001844.5(COL2A1):c.2578dup (p.Ala860fs)
|
|
|
NM_001844.5(COL2A1):c.2589T>C (p.Pro863=)
|
rs2136537583
|
|
NM_001844.5(COL2A1):c.2589del (p.Gly864fs)
|
|
|
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)
|
rs794727261
|
|
NM_001844.5(COL2A1):c.2593C>T (p.Pro865Ser)
|
|
|
NM_001844.5(COL2A1):c.2599G>A (p.Gly867Ser)
|
|
|
NM_001844.5(COL2A1):c.25_26delinsTA (p.Thr9Ter)
|
rs1131691546
|
|
NM_001844.5(COL2A1):c.25_26delinsTG (p.Thr9Trp)
|
rs1131691546
|
|
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)
|
|
|
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)
|
rs886042849
|
|
NM_001844.5(COL2A1):c.2601C>T (p.Gly867=)
|
|
|
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.2615C>G (p.Pro872Arg)
|
|
|
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.261C>T (p.Pro87=)
|
rs2136636867
|
|
NM_001844.5(COL2A1):c.261dup (p.Ile88fs)
|
rs1592238899
|
|
NM_001844.5(COL2A1):c.2620C>A (p.Pro874Thr)
|
rs377198201
|
|
NM_001844.5(COL2A1):c.2625+10G>A
|
rs777264495
|
|
NM_001844.5(COL2A1):c.2625+17T>A
|
|
|
NM_001844.5(COL2A1):c.2625+18C>T
|
|
|
NM_001844.5(COL2A1):c.2625+1G>A
|
|
|
NM_001844.5(COL2A1):c.2625+1G>C
|
|
|
NM_001844.5(COL2A1):c.2627G>A (p.Gly876Asp)
|
rs2136535158
|
|
NM_001844.5(COL2A1):c.2629C>T (p.Pro877Ser)
|
rs2136535139
|
|
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val)
|
rs760745824
|
|
NM_001844.5(COL2A1):c.262A>T (p.Ile88Phe)
|
|
|
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.2644G>C (p.Gly882Arg)
|
|
|
NM_001844.5(COL2A1):c.2647C>T (p.Pro883Ser)
|
|
|
NM_001844.5(COL2A1):c.2652A>G (p.Lys884=)
|
rs2136535021
|
|
NM_001844.5(COL2A1):c.2658C>T (p.Ala886=)
|
|
|
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln)
|
rs2136534972
|
|
NM_001844.5(COL2A1):c.2665G>A (p.Ala889Thr)
|
|
|
NM_001844.5(COL2A1):c.2668C>T (p.Gln890Ter)
|
|
|
NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala)
|
|
|
NM_001844.5(COL2A1):c.2673C>A (p.Gly891=)
|
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001844.5(COL2A1):c.2673C>T (p.Gly891=)
|
|
|
NM_001844.5(COL2A1):c.2674C>T (p.Pro892Ser)
|
|
|
NM_001844.5(COL2A1):c.2675C>T (p.Pro892Leu)
|
rs1160269578
|
|
NM_001844.5(COL2A1):c.2676C>A (p.Pro892=)
|
|
|
NM_001844.5(COL2A1):c.2678del (p.Pro893fs)
|
rs1938958532
|
|
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
|
rs1938958532
|
|
NM_001844.5(COL2A1):c.2679+13T>A
|
|
|
NM_001844.5(COL2A1):c.2679+20C>A
|
|
|
NM_001844.5(COL2A1):c.2679+20C>T
|
|
|
NM_001844.5(COL2A1):c.2679+69dup
|
rs11443755
|
|
NM_001844.5(COL2A1):c.2679+6T>G
|
rs771289955
|
|
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.267C>A (p.Cys89Ter)
|
rs2136636832
|
|
NM_001844.5(COL2A1):c.2680-14C>T
|
rs2136532563
|
|
NM_001844.5(COL2A1):c.2680-7C>T
|
|
|
NM_001844.5(COL2A1):c.2680-8C>T
|
|
|
NM_001844.5(COL2A1):c.2687C>T (p.Thr896Ile)
|
|
|
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)
|
rs1281743095
|
|
NM_001844.5(COL2A1):c.2699del (p.Gly900fs)
|
rs2136532405
|
|
NM_001844.5(COL2A1):c.2701G>A (p.Ala901Thr)
|
|
|
NM_001844.5(COL2A1):c.2704G>C (p.Ala902Pro)
|
|
|
NM_001844.5(COL2A1):c.2707G>A (p.Gly903Ser)
|
|
|
NM_001844.5(COL2A1):c.2709C>T (p.Gly903=)
|
rs794727665
|
|
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
NM_001844.5(COL2A1):c.2711G>T (p.Arg904Leu)
|
|
|
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala)
|
rs1271505111
|
|
NM_001844.5(COL2A1):c.2714_2715dup (p.Gly906fs)
|
|
|
NM_001844.5(COL2A1):c.2718del (p.Pro908fs)
|
|
|
NM_001844.5(COL2A1):c.2720C>A (p.Pro907His)
|
|
|
NM_001844.5(COL2A1):c.2720C>T (p.Pro907Leu)
|
|
|
NM_001844.5(COL2A1):c.2726G>A (p.Gly909Asp)
|
|
|
NM_001844.5(COL2A1):c.2726G>C (p.Gly909Ala)
|
rs2136532206
|
|
NM_001844.5(COL2A1):c.2733+10G>A
|
rs1354251899
|
|
NM_001844.5(COL2A1):c.2733+16G>C
|
rs1938916640
|
|
NM_001844.5(COL2A1):c.2733+19A>C
|
|
|
NM_001844.5(COL2A1):c.2733+19A>G
|
rs1436470894
|
|
NM_001844.5(COL2A1):c.2733+7del
|
|
|
NM_001844.5(COL2A1):c.2733+9T>C
|
|
|
NM_001844.5(COL2A1):c.2734-17G>A
|
rs371956146
|
|
NM_001844.5(COL2A1):c.2734-17G>T
|
rs371956146
|
|
NM_001844.5(COL2A1):c.2734-18C>A
|
|
|
NM_001844.5(COL2A1):c.2734-18C>T
|
rs570573455
|
|
NM_001844.5(COL2A1):c.2734-20C>T
|
|
|
NM_001844.5(COL2A1):c.2734-45_2734-43del
|
rs59984649
|
|
NM_001844.5(COL2A1):c.2734-5_2734-3del
|
|
|
NM_001844.5(COL2A1):c.2734G>A (p.Gly912Ser)
|
|
|
NM_001844.5(COL2A1):c.2739C>G (p.Asn913Lys)
|
|
|
NM_001844.5(COL2A1):c.2746_2753dup (p.Pro920fs)
|
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])
|
rs2136528419
|
|
NM_001844.5(COL2A1):c.274G>C (p.Asp92His)
|
|
|
NM_001844.5(COL2A1):c.2751del (p.Gly918fs)
|
rs2136528572
|
|
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg)
|
rs1565672299
|
|
NM_001844.5(COL2A1):c.2752G>T (p.Gly918Cys)
|
rs1565672299
|
|
NM_001844.5(COL2A1):c.2753dup (p.Pro919fs)
|
rs1938872900
|
|
NM_001844.5(COL2A1):c.2754del (p.Pro920fs)
|
rs2136528535
|
|
NM_001844.5(COL2A1):c.2755C>G (p.Pro919Ala)
|
|
|
NM_001844.5(COL2A1):c.2755C>T (p.Pro919Ser)
|
|
|
NM_001844.5(COL2A1):c.2759C>A (p.Pro920His)
|
|
|
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.2762G>A (p.Gly921Asp)
|
rs2136528442
|
|
NM_001844.5(COL2A1):c.2763_2771del (p.Pro922_Gly924del)
|
rs1938871701
|
|
NM_001844.5(COL2A1):c.2772A>G (p.Gly924=)
|
|
|
NM_001844.5(COL2A1):c.2777A>T (p.Asp926Val)
|
|
|
NM_001844.5(COL2A1):c.2778T>C (p.Asp926=)
|
|
|
NM_001844.5(COL2A1):c.2785A>T (p.Lys929Ter)
|
|
|
NM_001844.5(COL2A1):c.2787dup (p.Gly930fs)
|
|
|
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)
|
rs886043540
|
|
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg)
|
rs886043540
|
|
NM_001844.5(COL2A1):c.2789G>C (p.Gly930Ala)
|
rs1555165501
|
|
NM_001844.5(COL2A1):c.2791G>C (p.Ala931Pro)
|
|
|
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.2800G>C (p.Asp934His)
|
rs1350090082
|
|
NM_001844.5(COL2A1):c.2804G>A (p.Ser935Asn)
|
|
|
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)
|
rs777615798
|
|
NM_001844.5(COL2A1):c.2808C>A (p.Gly936=)
|
|
|
NM_001844.5(COL2A1):c.2809C>G (p.Pro937Ala)
|
|
|
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>A (p.Arg940=)
|
|
|
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)
|
rs1057524114
|
|
NM_001844.5(COL2A1):c.2822C>T (p.Ala941Val)
|
rs936065719
|
|
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp)
|
rs886041914
|
|
NM_001844.5(COL2A1):c.2826T>C (p.Gly942=)
|
rs2136528105
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
NM_001844.5(COL2A1):c.2833G>C (p.Gly945Arg)
|
|
|
NM_001844.5(COL2A1):c.2837T>C (p.Leu946Pro)
|
rs2136528046
|
|
NM_001844.5(COL2A1):c.2841A>C (p.Gln947His)
|
|
|
NM_001844.5(COL2A1):c.2850dup (p.Gly951fs)
|
|
|
NM_001844.5(COL2A1):c.2858C>T (p.Pro953Leu)
|
|
|
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>A (p.Glu955Lys)
|
|
|
NM_001844.5(COL2A1):c.2863G>T (p.Glu955Ter)
|
|
|
NM_001844.5(COL2A1):c.2872G>T (p.Glu958Ter)
|
|
|
NM_001844.5(COL2A1):c.2874G>A (p.Glu958=)
|
|
|
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser)
|
rs1215825701
|
|
NM_001844.5(COL2A1):c.2891C>T (p.Pro964Leu)
|
|
|
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=)
|
rs769500366
|
|
NM_001844.5(COL2A1):c.2895+1G>A
|
|
|
NM_001844.5(COL2A1):c.2896-14C>T
|
|
|
NM_001844.5(COL2A1):c.2896-19C>T
|
|
|
NM_001844.5(COL2A1):c.2896-5C>T
|
rs2136526777
|
|
NM_001844.5(COL2A1):c.2901C>G (p.Ala967=)
|
|
|
NM_001844.5(COL2A1):c.2902G>T (p.Glu968Ter)
|
rs144572461
|
|
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)
|
rs2136526614
|
|
NM_001844.5(COL2A1):c.2918C>A (p.Pro973His)
|
|
|
NM_001844.5(COL2A1):c.2918_2926del (p.Pro973_Gly975del)
|
rs2136526580
|
|
NM_001844.5(COL2A1):c.292+11A>G
|
|
|
NM_001844.5(COL2A1):c.292+15A>C
|
|
|
NM_001844.5(COL2A1):c.292+15A>G
|
|
|
NM_001844.5(COL2A1):c.292+258G>C
|
rs1635532
|
|
NM_001844.5(COL2A1):c.292+258G>T
|
rs1635532
|
|
NM_001844.5(COL2A1):c.292+258del
|
rs371739976
|
|
NM_001844.5(COL2A1):c.2920C>T (p.Gln974Ter)
|
|
|
NM_001844.5(COL2A1):c.2928G>A (p.Leu976=)
|
rs2136526577
|
|
NM_001844.5(COL2A1):c.293-10dup
|
|
|
NM_001844.5(COL2A1):c.293-15T>A
|
|
|
NM_001844.5(COL2A1):c.293-18A>G
|
|
|
NM_001844.5(COL2A1):c.293-6T>G
|
|
|
NM_001844.5(COL2A1):c.293-8C>T
|
|
|
NM_001844.5(COL2A1):c.2933del (p.Gly978fs)
|
rs1938845595
|
|
NM_001844.5(COL2A1):c.2934del (p.Gln979fs)
|
rs1938845386
|
|
NM_001844.5(COL2A1):c.2939G>A (p.Arg980Lys)
|
|
|
NM_001844.5(COL2A1):c.2939G>C (p.Arg980Thr)
|
rs1457365714
|
|
NM_001844.5(COL2A1):c.2942dup (p.Ile982fs)
|
rs2136526506
|
|
NM_001844.5(COL2A1):c.2943C>G (p.Gly981=)
|
rs566132150
|
|
NM_001844.5(COL2A1):c.2944A>G (p.Ile982Val)
|
|
|
NM_001844.5(COL2A1):c.2946C>G (p.Ile982Met)
|
rs555904044
|
|
NM_001844.5(COL2A1):c.2947_2948dup (p.Gly984fs)
|
|
|
NM_001844.5(COL2A1):c.2950G>A (p.Gly984Ser)
|
rs2136526413
|
|
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter)
|
|
|
NM_001844.5(COL2A1):c.2964A>G (p.Gln988=)
|
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
NM_001844.5(COL2A1):c.2967T>C (p.Arg989=)
|
|
|
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.2980T>C (p.Phe994Leu)
|
|
|
NM_001844.5(COL2A1):c.2989_2997del (p.Leu997_Gly999del)
|
rs2136526235
|
|
NM_001844.5(COL2A1):c.2998C>A (p.Pro1000Thr)
|
|
|
NM_001844.5(COL2A1):c.2999C>T (p.Pro1000Leu)
|
rs149321146
|
|
NM_001844.5(COL2A1):c.299C>G (p.Pro100Arg)
|
rs763903953
|
|
NM_001844.5(COL2A1):c.3000_3001del (p.Ser1001fs)
|
rs2136526175
|
|
NM_001844.5(COL2A1):c.3003+18C>T
|
|
|
NM_001844.5(COL2A1):c.3003+6T>A
|
|
|
NM_001844.5(COL2A1):c.3003+7G>T
|
|
|
NM_001844.5(COL2A1):c.3003G>A (p.Ser1001=)
|
|
|
NM_001844.5(COL2A1):c.3004-12C>T
|
rs2136525411
|
|
NM_001844.5(COL2A1):c.3004-1G>A
|
rs2136525334
|
|
NM_001844.5(COL2A1):c.3004-3C>T
|
|
|
NM_001844.5(COL2A1):c.3004-4C>A
|
rs1282280270
|
|
NM_001844.5(COL2A1):c.3004-6C>T
|
rs2136525367
|
|
NM_001844.5(COL2A1):c.3004-7C>T
|
|
|
NM_001844.5(COL2A1):c.3004-8C>G
|
rs1214532689
|
|
NM_001844.5(COL2A1):c.3009G>A (p.Glu1003=)
|
|
|
NM_001844.5(COL2A1):c.3009del (p.Glu1003fs)
|
|
|
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)
|
rs753342774
|
|
NM_001844.5(COL2A1):c.3021G>A (p.Gln1007=)
|
|
|
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)
|
rs765795867
|
|
NM_001844.5(COL2A1):c.3028C>A (p.Pro1010Thr)
|
|
|
NM_001844.5(COL2A1):c.3042A>T (p.Gly1014=)
|
|
|
NM_001844.5(COL2A1):c.3045C>T (p.Asp1015=)
|
|
|
NM_001844.5(COL2A1):c.3047_3056dup (p.Gly1020fs)
|
rs2136525064
|
|
NM_001844.5(COL2A1):c.3053C>T (p.Pro1018Leu)
|
rs1191511314
|
|
NM_001844.5(COL2A1):c.3055C>T (p.Pro1019Ser)
|
|
|
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)
|
rs1555165335
|
|
NM_001844.5(COL2A1):c.3063C>T (p.Pro1021=)
|
|
|
NM_001844.5(COL2A1):c.3063del (p.Val1022fs)
|
rs2136525034
|
|
NM_001844.5(COL2A1):c.306_309dup (p.Gly104fs)
|
|
|
NM_001844.5(COL2A1):c.3073C>T (p.Pro1025Ser)
|
|
|
NM_001844.5(COL2A1):c.3075T>C (p.Pro1025=)
|
|
|
NM_001844.5(COL2A1):c.3075dup (p.Gly1026fs)
|
rs2136524986
|
|
NM_001844.5(COL2A1):c.3079C>T (p.Leu1027=)
|
|
|
NM_001844.5(COL2A1):c.3080T>C (p.Leu1027Pro)
|
rs2136524904
|
|
NM_001844.5(COL2A1):c.3082A>T (p.Thr1028Ser)
|
|
|
NM_001844.5(COL2A1):c.3084G>A (p.Thr1028=)
|
rs142786064
|
|
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)
|
|
|
NM_001844.5(COL2A1):c.309+20T>A
|
rs368766858
|
|
NM_001844.5(COL2A1):c.309+5G>A
|
|
|
NM_001844.5(COL2A1):c.310-17A>G
|
rs561118584
|
|
NM_001844.5(COL2A1):c.310-1G>A
|
|
|
NM_001844.5(COL2A1):c.310-20G>A
|
|
|
NM_001844.5(COL2A1):c.310-2A>G
|
|
|
NM_001844.5(COL2A1):c.310-8T>C
|
rs1369777718
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
NM_001844.5(COL2A1):c.3107G>T (p.Arg1036Leu)
|
|
|
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter)
|
rs764210489
|
|
NM_001844.5(COL2A1):c.3111+13A>T
|
|
|
NM_001844.5(COL2A1):c.3111+15C>G
|
|
|
NM_001844.5(COL2A1):c.3111+16C>T
|
|
|
NM_001844.5(COL2A1):c.3111+1G>T
|
|
|
NM_001844.5(COL2A1):c.3111+2T>A
|
|
|
NM_001844.5(COL2A1):c.3112-2A>G
|
|
|
NM_001844.5(COL2A1):c.3112-87del
|
rs573313146
|
|
NM_001844.5(COL2A1):c.3113G>A (p.Gly1038Glu)
|
rs2136523042
|
|
NM_001844.5(COL2A1):c.3117C>A (p.Ser1039Arg)
|
rs1938799246
|
|
NM_001844.5(COL2A1):c.3117C>T (p.Ser1039=)
|
rs1938799246
|
|
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.3123T>A (p.Gly1041=)
|
|
|
NM_001844.5(COL2A1):c.3123T>G (p.Gly1041=)
|
rs749834758
|
|
NM_001844.5(COL2A1):c.3130G>A (p.Gly1044Ser)
|
rs2136522924
|
|
NM_001844.5(COL2A1):c.3131G>C (p.Gly1044Ala)
|
|
|
NM_001844.5(COL2A1):c.3131del (p.Gly1044fs)
|
|
|
NM_001844.5(COL2A1):c.3132C>T (p.Gly1044=)
|
rs780693364
|
|
NM_001844.5(COL2A1):c.3133C>A (p.Pro1045Thr)
|
|
|
NM_001844.5(COL2A1):c.3137C>T (p.Pro1046Leu)
|
|
|
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.3144A>G (p.Arg1048=)
|
|
|
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)
|
rs1555165242
|
|
NM_001844.5(COL2A1):c.3149G>T (p.Gly1050Val)
|
rs1555165242
|
|
NM_001844.5(COL2A1):c.3156dup (p.Gly1053fs)
|
rs1057518157
|
|
NM_001844.5(COL2A1):c.3165+13T>A
|
|
|
NM_001844.5(COL2A1):c.3165+16C>G
|
rs1938794431
|
|
NM_001844.5(COL2A1):c.3165+1G>T
|
rs767701661
|
|
NM_001844.5(COL2A1):c.3165+20G>T
|
rs901151450
|
|
NM_001844.5(COL2A1):c.3165+3G>A
|
|
|
NM_001844.5(COL2A1):c.3165+4_3165+7del
|
rs773138674
|
|
NM_001844.5(COL2A1):c.3165+80G>A
|
|
|
NM_001844.5(COL2A1):c.3166-15C>T
|
|
|
NM_001844.5(COL2A1):c.3166-2_3166-1del
|
rs2136521786
|
|
NM_001844.5(COL2A1):c.3166-3C>T
|
rs937072086
|
|
NM_001844.5(COL2A1):c.3166-6T>C
|
rs2136521812
|
|
NM_001844.5(COL2A1):c.3166-8C>T
|
rs1555165207
|
|
NM_001844.5(COL2A1):c.3172C>A (p.Arg1058Ser)
|
rs148350640
|
|
NM_001844.5(COL2A1):c.3172C>T (p.Arg1058Cys)
|
rs148350640
|
|
NM_001844.5(COL2A1):c.3177T>G (p.Gly1059=)
|
|
|
NM_001844.5(COL2A1):c.3186T>G (p.Gly1062=)
|
|
|
NM_001844.5(COL2A1):c.3189dup (p.Val1064fs)
|
|
|
NM_001844.5(COL2A1):c.3190G>T (p.Val1064Leu)
|
|
|
NM_001844.5(COL2A1):c.3194G>A (p.Gly1065Glu)
|
|
|
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu)
|
rs1555165195
|
|
NM_001844.5(COL2A1):c.3206C>A (p.Ala1069Asp)
|
|
|
NM_001844.5(COL2A1):c.320G>C (p.Gly107Ala)
|
rs1940054684
|
|
NM_001844.5(COL2A1):c.3210_3217dup (p.Pro1073fs)
|
|
|
NM_001844.5(COL2A1):c.3212G>A (p.Gly1071Glu)
|
rs2136521542
|
|
NM_001844.5(COL2A1):c.3213G>A (p.Gly1071=)
|
rs1938780128
|
|
NM_001844.5(COL2A1):c.3214C>G (p.Pro1072Ala)
|
rs955829877
|
|
NM_001844.5(COL2A1):c.3215C>A (p.Pro1072His)
|
|
|
NM_001844.5(COL2A1):c.3216_3234dup (p.Ala1079fs)
|
rs2136521329
|
|
NM_001844.5(COL2A1):c.3219del (p.Gly1074fs)
|
rs2136521461
|
|
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=)
|
rs746453469
|
|
NM_001844.5(COL2A1):c.3227del (p.Pro1076fs)
|
|
|
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val)
|
rs786205477
|
|
NM_001844.5(COL2A1):c.3234dup (p.Ala1079fs)
|
rs2136521308
|
|
NM_001844.5(COL2A1):c.3237T>C (p.Ala1079=)
|
|
|
NM_001844.5(COL2A1):c.3237T>G (p.Ala1079=)
|
rs2136521256
|
|
NM_001844.5(COL2A1):c.3238G>A (p.Gly1080Ser)
|
|
|
NM_001844.5(COL2A1):c.3238G>C (p.Gly1080Arg)
|
|
|
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
|
|
|
NM_001844.5(COL2A1):c.3257G>A (p.Gly1086Glu)
|
rs2136521131
|
|
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.3263GAG[1] (p.Gly1089del)
|
rs2136521036
|
|
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)
|
|
|
NM_001844.5(COL2A1):c.3266G>A (p.Gly1089Glu)
|
rs2136521056
|
|
NM_001844.5(COL2A1):c.326C>T (p.Pro109Leu)
|
|
|
NM_001844.5(COL2A1):c.3273+20del
|
|
|
NM_001844.5(COL2A1):c.3274-14C>T
|
rs1565669770
|
|
NM_001844.5(COL2A1):c.3274-16C>T
|
|
|
NM_001844.5(COL2A1):c.3274-19G>T
|
|
|
NM_001844.5(COL2A1):c.3274-2A>G
|
rs2136520141
|
|
NM_001844.5(COL2A1):c.3274-3C>T
|
|
|
NM_001844.5(COL2A1):c.3274-6C>T
|
|
|
NM_001844.5(COL2A1):c.3274-9_3274-6del
|
rs1555165173
|
|
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp)
|
rs794727684
|
|
NM_001844.5(COL2A1):c.3277G>A (p.Ala1093Thr)
|
|
|
NM_001844.5(COL2A1):c.3278C>T (p.Ala1093Val)
|
rs2136520107
|
|
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.3286C>T (p.Pro1096Ser)
|
rs761070916
|
|
NM_001844.5(COL2A1):c.3287_3297del (p.Pro1096fs)
|
|
|
NM_001844.5(COL2A1):c.3289A>G (p.Met1097Val)
|
|
|
NM_001844.5(COL2A1):c.32del (p.Val11fs)
|
rs2136652716
|
|
NM_001844.5(COL2A1):c.3303A>G (p.Gly1101=)
|
|
|
NM_001844.5(COL2A1):c.3305C>T (p.Pro1102Leu)
|
rs772478856
|
|
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.3316C>T (p.Arg1106Trp)
|
rs374036874
|
|
NM_001844.5(COL2A1):c.3319G>A (p.Gly1107Arg)
|
rs2136519756
|
|
NM_001844.5(COL2A1):c.3326A>C (p.Gln1109Pro)
|
rs1055461266
|
|
NM_001844.5(COL2A1):c.3327+19T>C
|
|
|
NM_001844.5(COL2A1):c.3327+1G>A
|
|
|
NM_001844.5(COL2A1):c.3327+6T>C
|
|
|
NM_001844.5(COL2A1):c.3327+7A>G
|
|
|
NM_001844.5(COL2A1):c.3328-13G>A
|
rs373278655
|
|
NM_001844.5(COL2A1):c.3328-14T>C
|
|
|
NM_001844.5(COL2A1):c.3328-17G>A
|
|
|
NM_001844.5(COL2A1):c.3328-19G>A
|
|
|
NM_001844.5(COL2A1):c.3328-20G>A
|
rs73297150
|
|
NM_001844.5(COL2A1):c.3328-2A>G
|
rs1938737244
|
|
NM_001844.5(COL2A1):c.3328-8G>T
|
|
|
NM_001844.5(COL2A1):c.3328G>C (p.Gly1110Arg)
|
rs1938737050
|
|
NM_001844.5(COL2A1):c.3328G>T (p.Gly1110Cys)
|
rs1938737050
|
|
NM_001844.5(COL2A1):c.3329G>C (p.Gly1110Ala)
|
rs2136518845
|
|
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter)
|
rs2136518839
|
|
NM_001844.5(COL2A1):c.333C>T (p.Asp111=)
|
rs760076089
|
|
NM_001844.5(COL2A1):c.3340C>T (p.Pro1114Ser)
|
|
|
NM_001844.5(COL2A1):c.3341C>T (p.Pro1114Leu)
|
|
|
NM_001844.5(COL2A1):c.3343A>G (p.Arg1115Gly)
|
|
|
NM_001844.5(COL2A1):c.3344G>A (p.Arg1115Lys)
|
rs762238866
|
|
NM_001844.5(COL2A1):c.3344G>C (p.Arg1115Thr)
|
|
|
NM_001844.5(COL2A1):c.3347G>A (p.Gly1116Asp)
|
|
|
NM_001844.5(COL2A1):c.3349G>C (p.Asp1117His)
|
|
|
NM_001844.5(COL2A1):c.334A>G (p.Ile112Val)
|
|
|
NM_001844.5(COL2A1):c.3353A>G (p.Lys1118Arg)
|
rs774979011
|
|
NM_001844.5(COL2A1):c.3356del (p.Gly1119fs)
|
rs1555165110
|
|
NM_001844.5(COL2A1):c.3358G>A (p.Glu1120Lys)
|
rs1170064048
|
|
NM_001844.5(COL2A1):c.335T>C (p.Ile112Thr)
|
|
|
NM_001844.5(COL2A1):c.3364G>A (p.Gly1122Arg)
|
|
|
NM_001844.5(COL2A1):c.3365G>A (p.Gly1122Glu)
|
rs1592199342
|
|
NM_001844.5(COL2A1):c.336C>T (p.Ile112=)
|
|
|
NM_001844.5(COL2A1):c.3373G>A (p.Gly1125Ser)
|
|
|
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=)
|
rs543083152
|
|
NM_001844.5(COL2A1):c.3378G>C (p.Glu1126Asp)
|
rs1238436732
|
|
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.3387G>T (p.Leu1129=)
|
|
|
NM_001844.5(COL2A1):c.3399T>C (p.Arg1133=)
|
|
|
NM_001844.5(COL2A1):c.339_340delinsTT (p.Lys113_Asp114delinsAsnTyr)
|
|
|
NM_001844.5(COL2A1):c.33G>C (p.Val11=)
|
|
|
NM_001844.5(COL2A1):c.3400G>A (p.Gly1134Ser)
|
rs2136518300
|
|
NM_001844.5(COL2A1):c.3401G>A (p.Gly1134Asp)
|
|
|
NM_001844.5(COL2A1):c.3404T>G (p.Phe1135Cys)
|
|
|
NM_001844.5(COL2A1):c.3407C>T (p.Thr1136Ile)
|
|
|
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+1G>A
|
rs2136629179
|
|
NM_001844.5(COL2A1):c.342+2_342+7del
|
|
|
NM_001844.5(COL2A1):c.342+3_342+6dup
|
rs2136629152
|
|
NM_001844.5(COL2A1):c.342+5G>A
|
rs2136629166
|
|
NM_001844.5(COL2A1):c.342+5del
|
|
|
NM_001844.5(COL2A1):c.342+8C>T
|
|
|
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser)
|
rs2136518157
|
|
NM_001844.5(COL2A1):c.343-11C>G
|
|
|
NM_001844.5(COL2A1):c.343-15G>A
|
|
|
NM_001844.5(COL2A1):c.343-15G>T
|
|
|
NM_001844.5(COL2A1):c.343-1G>A
|
|
|
NM_001844.5(COL2A1):c.343-6T>G
|
|
|
NM_001844.5(COL2A1):c.343-7C>G
|
rs1565695681
|
|
NM_001844.5(COL2A1):c.3432T>C (p.Pro1144=)
|
rs1405303838
|
|
NM_001844.5(COL2A1):c.3435+18C>A
|
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
NM_001844.5(COL2A1):c.3435+5G>A
|
|
|
NM_001844.5(COL2A1):c.3435+5G>C
|
|
|
NM_001844.5(COL2A1):c.3435+7G>A
|
rs780209802
|
|
NM_001844.5(COL2A1):c.3435+83C>G
|
rs2136517622
|
|
NM_001844.5(COL2A1):c.3435+9C>T
|
|
|
NM_001844.5(COL2A1):c.3436-11C>T
|
|
|
NM_001844.5(COL2A1):c.3436-17C>T
|
rs2136517010
|
|
NM_001844.5(COL2A1):c.3436-1G>A
|
rs2136516942
|
|
NM_001844.5(COL2A1):c.3436-7T>C
|
rs2136516972
|
|
NM_001844.5(COL2A1):c.3436G>A (p.Gly1146Ser)
|
rs2136516927
|
|
NM_001844.5(COL2A1):c.3436G>T (p.Gly1146Cys)
|
rs2136516927
|
|
NM_001844.5(COL2A1):c.3436_3437insA (p.Gly1146fs)
|
|
|
NM_001844.5(COL2A1):c.3437G>A (p.Gly1146Asp)
|
rs1938719104
|
|
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala)
|
rs139720910
|
|
NM_001844.5(COL2A1):c.343A>G (p.Ile115Val)
|
|
|
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu)
|
rs1938718512
|
|
NM_001844.5(COL2A1):c.3448G>T (p.Asp1150Tyr)
|
|
|
NM_001844.5(COL2A1):c.3454G>A (p.Gly1152Ser)
|
|
|
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp)
|
rs2136516779
|
|
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp)
|
rs1938716355
|
|
NM_001844.5(COL2A1):c.3464G>T (p.Gly1155Val)
|
|
|
NM_001844.5(COL2A1):c.346_347insA (p.Val116fs)
|
rs2136628462
|
|
NM_001844.5(COL2A1):c.3474T>C (p.Gly1158=)
|
rs2136516713
|
|
NM_001844.5(COL2A1):c.3478T>G (p.Ser1160Ala)
|
rs2136516677
|
|
NM_001844.5(COL2A1):c.3489+11T>C
|
|
|
NM_001844.5(COL2A1):c.3489+19G>A
|
rs2136516551
|
|
NM_001844.5(COL2A1):c.3489+221_3489+222insGACCCCTGG
|
rs145571589
|
|
NM_001844.5(COL2A1):c.3489+3_3489+6del
|
|
|
NM_001844.5(COL2A1):c.3489+6T>C
|
|
|
NM_001844.5(COL2A1):c.3489+8A>G
|
rs2136516609
|
|
NM_001844.5(COL2A1):c.348A>G (p.Val116=)
|
rs1940046322
|
|
NM_001844.5(COL2A1):c.3490-15CT[3]
|
|
|
NM_001844.5(COL2A1):c.3490-15CT[4]
|
rs780110289
|
|
NM_001844.5(COL2A1):c.3490-16C>A
|
|
|
NM_001844.5(COL2A1):c.3490-18G>A
|
rs778292426
|
|
NM_001844.5(COL2A1):c.3490-19C>A
|
rs200223738
|
|
NM_001844.5(COL2A1):c.3490-19C>G
|
|
|
NM_001844.5(COL2A1):c.3490-2A>G
|
rs2136514651
|
|
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)
|
rs2136514646
|
|
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp)
|
rs1476546104
|
|
NM_001844.5(COL2A1):c.3501C>T (p.Gly1167=)
|
|
|
NM_001844.5(COL2A1):c.3504C>A (p.Pro1168=)
|
|
|
NM_001844.5(COL2A1):c.3504C>G (p.Pro1168=)
|
|
|
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg)
|
rs121912891
|
|
NM_001844.5(COL2A1):c.3509G>C (p.Gly1170Ala)
|
|
|
NM_001844.5(COL2A1):c.3511C>G (p.Pro1171Ala)
|
rs147750391
|
|
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser)
|
rs147750391
|
|
NM_001844.5(COL2A1):c.3513C>A (p.Pro1171=)
|
|
|
NM_001844.5(COL2A1):c.3515_3516del (p.Ser1172fs)
|
|
|
NM_001844.5(COL2A1):c.3516T>G (p.Ser1172=)
|
rs2136514463
|
|
NM_001844.5(COL2A1):c.3526G>A (p.Gly1176Ser)
|
rs2136514418
|
|
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp)
|
rs1592197752
|
|
NM_001844.5(COL2A1):c.3536dup (p.Ile1180fs)
|
|
|
NM_001844.5(COL2A1):c.3538A>C (p.Ile1180Leu)
|
|
|
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu)
|
|
|
NM_001844.5(COL2A1):c.3540C>A (p.Ile1180=)
|
|
|
NM_001844.5(COL2A1):c.3541C>T (p.Pro1181Ser)
|
|
|
NM_001844.5(COL2A1):c.3551T>C (p.Ile1184Thr)
|
|
|
NM_001844.5(COL2A1):c.3555G>C (p.Gly1185=)
|
rs2136514279
|
|
NM_001844.5(COL2A1):c.3560C>G (p.Pro1187Arg)
|
|
|
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)
|
rs536885536
|
|
NM_001844.5(COL2A1):c.3566C>A (p.Pro1189His)
|
rs755010259
|
|
NM_001844.5(COL2A1):c.3568C>T (p.Arg1190Cys)
|
rs1338267090
|
|
NM_001844.5(COL2A1):c.3569G>A (p.Arg1190His)
|
|
|
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)
|
rs886042651
|
|
NM_001844.5(COL2A1):c.3578C>T (p.Ser1193Leu)
|
rs755514365
|
|
NM_001844.5(COL2A1):c.3582C>G (p.Gly1194=)
|
rs566528045
|
|
NM_001844.5(COL2A1):c.3583G>A (p.Glu1195Lys)
|
|
|
NM_001844.5(COL2A1):c.3585A>G (p.Glu1195=)
|
|
|
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+17del
|
rs758237369
|
|
NM_001844.5(COL2A1):c.3597+1G>A
|
rs1555164874
|
|
NM_001844.5(COL2A1):c.3597+1G>C
|
rs1555164874
|
|
NM_001844.5(COL2A1):c.3597+6T>C
|
rs2136514015
|
|
NM_001844.5(COL2A1):c.3598-10C>T
|
|
|
NM_001844.5(COL2A1):c.3598-1G>A
|
rs1592196867
|
|
NM_001844.5(COL2A1):c.3598-20C>T
|
|
|
NM_001844.5(COL2A1):c.3598-2A>G
|
rs2136512643
|
|
NM_001844.5(COL2A1):c.3598-3C>G
|
rs1210989012
|
|
NM_001844.5(COL2A1):c.3598-4G>T
|
rs1938666098
|
|
NM_001844.5(COL2A1):c.3599G>A (p.Gly1200Asp)
|
rs1362154291
|
|
NM_001844.5(COL2A1):c.35T>C (p.Leu12Pro)
|
rs2136652710
|
|
NM_001844.5(COL2A1):c.3606_3632del (p.Asn1204_Gly1212del)
|
rs2136512470
|
|
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.3626G>T (p.Gly1209Val)
|
rs1131692022
|
|
NM_001844.5(COL2A1):c.3627_3644del (p.1205PGP[2])
|
rs2136512373
|
|
NM_001844.5(COL2A1):c.3630del (p.Pro1211fs)
|
|
|
NM_001844.5(COL2A1):c.3631_3648dup (p.Pro1216_Gly1217insProGlyProProGlyPro)
|
|
|
NM_001844.5(COL2A1):c.3642T>C (p.Pro1214=)
|
|
|
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)
|
rs1592196744
|
|
NM_001844.5(COL2A1):c.3645C>T (p.Gly1215=)
|
rs2136512356
|
|
NM_001844.5(COL2A1):c.3647C>G (p.Pro1216Arg)
|
rs1418851351
|
|
NM_001844.5(COL2A1):c.3648T>C (p.Pro1216=)
|
rs1938662465
|
|
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.3659T>G (p.Met1220Arg)
|
rs886049445
|
|
NM_001844.5(COL2A1):c.3661_3665dup (p.Phe1223fs)
|
|
|
NM_001844.5(COL2A1):c.3663del (p.Ala1222fs)
|
rs1938661102
|
|
NM_001844.5(COL2A1):c.3664G>A (p.Ala1222Thr)
|
|
|
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.3686G>C (p.Arg1229Thr)
|
|
|
NM_001844.5(COL2A1):c.3694G>T (p.Gly1232Cys)
|
rs1276202058
|
|
NM_001844.5(COL2A1):c.3696C>T (p.Gly1232=)
|
|
|
NM_001844.5(COL2A1):c.3699del (p.Asp1234fs)
|
|
|
NM_001844.5(COL2A1):c.3701A>G (p.Asp1234Gly)
|
|
|
NM_001844.5(COL2A1):c.3702C>T (p.Asp1234=)
|
|
|
NM_001844.5(COL2A1):c.3703C>A (p.Pro1235Thr)
|
|
|
NM_001844.5(COL2A1):c.3704C>T (p.Pro1235Leu)
|
|
|
NM_001844.5(COL2A1):c.3706C>T (p.Leu1236=)
|
rs769035328
|
|
NM_001844.5(COL2A1):c.3706del (p.Leu1236fs)
|
rs2136511970
|
|
NM_001844.5(COL2A1):c.3706dup (p.Leu1236fs)
|
|
|
NM_001844.5(COL2A1):c.3707T>C (p.Leu1236Pro)
|
|
|
NM_001844.5(COL2A1):c.3707T>G (p.Leu1236Arg)
|
|
|
NM_001844.5(COL2A1):c.3709C>T (p.Gln1237Ter)
|
rs2136511934
|
|
NM_001844.5(COL2A1):c.3715A>G (p.Met1239Val)
|
rs200136879
|
|
NM_001844.5(COL2A1):c.3718C>A (p.Arg1240=)
|
rs374082762
|
|
NM_001844.5(COL2A1):c.3721G>A (p.Ala1241Thr)
|
rs1208388893
|
|
NM_001844.5(COL2A1):c.3721del (p.Ala1241fs)
|
|
|
NM_001844.5(COL2A1):c.3722C>A (p.Ala1241Asp)
|
|
|
NM_001844.5(COL2A1):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001844.5(COL2A1):c.3744G>A (p.Leu1248=)
|
|
|
NM_001844.5(COL2A1):c.375+13G>A
|
rs2136628241
|
|
NM_001844.5(COL2A1):c.375+16A>G
|
rs1940044356
|
|
NM_001844.5(COL2A1):c.375+2T>A
|
|
|
NM_001844.5(COL2A1):c.375+4AG[2]
|
|
|
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu)
|
rs377079894
|
|
NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=)
|
rs377079894
|
|
NM_001844.5(COL2A1):c.376-13T>C
|
|
|
NM_001844.5(COL2A1):c.376-15G>A
|
|
|
NM_001844.5(COL2A1):c.376-1G>A
|
rs1940039533
|
|
NM_001844.5(COL2A1):c.376-1G>C
|
rs1940039533
|
|
NM_001844.5(COL2A1):c.376-4T>G
|
rs2136627736
|
|
NM_001844.5(COL2A1):c.376G>A (p.Gly126Arg)
|
|
|
NM_001844.5(COL2A1):c.3770C>A (p.Ala1257Asp)
|
rs1169999705
|
|
NM_001844.5(COL2A1):c.377_378dup (p.Pro127fs)
|
|
|
NM_001844.5(COL2A1):c.3782C>T (p.Ser1261Phe)
|
|
|
NM_001844.5(COL2A1):c.3783C>T (p.Ser1261=)
|
|
|
NM_001844.5(COL2A1):c.3784C>T (p.Leu1262Phe)
|
|
|
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.3797T>C (p.Ile1266Thr)
|
|
|
NM_001844.5(COL2A1):c.37C>T (p.Leu13=)
|
rs1940370442
|
|
NM_001844.5(COL2A1):c.3802A>C (p.Ser1268Arg)
|
|
|
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.3808del (p.Arg1270fs)
|
rs2136511168
|
|
NM_001844.5(COL2A1):c.3810C>T (p.Arg1270=)
|
|
|
NM_001844.5(COL2A1):c.3816del (p.Glu1273fs)
|
|
|
NM_001844.5(COL2A1):c.3822C>G (p.Gly1274=)
|
|
|
NM_001844.5(COL2A1):c.3825C>T (p.Ser1275=)
|
|
|
NM_001844.5(COL2A1):c.3826C>G (p.Arg1276Gly)
|
|
|
NM_001844.5(COL2A1):c.3826C>T (p.Arg1276Cys)
|
|
|
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His)
|
rs142168567
|
|
NM_001844.5(COL2A1):c.3827G>T (p.Arg1276Leu)
|
rs142168567
|
|
NM_001844.5(COL2A1):c.3831del (p.Asn1278fs)
|
rs2136510961
|
|
NM_001844.5(COL2A1):c.3841C>T (p.Arg1281Cys)
|
|
|
NM_001844.5(COL2A1):c.3852A>G (p.Arg1284=)
|
|
|
NM_001844.5(COL2A1):c.3864_3865del (p.Cys1289fs)
|
rs2136510866
|
|
NM_001844.5(COL2A1):c.3882G>T (p.Lys1294Asn)
|
rs1938646610
|
|
NM_001844.5(COL2A1):c.3886+17G>C
|
|
|
NM_001844.5(COL2A1):c.3886+17G>T
|
|
|
NM_001844.5(COL2A1):c.3886+18G>A
|
|
|
NM_001844.5(COL2A1):c.3886+1G>A
|
rs2136510769
|
|
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg)
|
rs546672421
|
|
NM_001844.5(COL2A1):c.3887-17G>C
|
|
|
NM_001844.5(COL2A1):c.3887-1G>C
|
rs1565666318
|
|
NM_001844.5(COL2A1):c.3887-6del
|
rs572863485
|
|
NM_001844.5(COL2A1):c.3887-7C>G
|
|
|
NM_001844.5(COL2A1):c.3892del (p.Tyr1298fs)
|
rs2136508934
|
|
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
|
rs2136508909
|
|
NM_001844.5(COL2A1):c.3897G>C (p.Trp1299Cys)
|
|
|
NM_001844.5(COL2A1):c.3898_3964delinsTAGT (p.Ile1300_Thr1322delinsTer)
|
|
|
NM_001844.5(COL2A1):c.3899T>C (p.Ile1300Thr)
|
|
|
NM_001844.5(COL2A1):c.389A>G (p.Glu130Gly)
|
|
|
NM_001844.5(COL2A1):c.3900T>C (p.Ile1300=)
|
|
|
NM_001844.5(COL2A1):c.3901G>C (p.Asp1301His)
|
|
|
NM_001844.5(COL2A1):c.3903C>A (p.Asp1301Glu)
|
rs2136508859
|
|
NM_001844.5(COL2A1):c.3903C>T (p.Asp1301=)
|
|
|
NM_001844.5(COL2A1):c.3906dup (p.Asn1303fs)
|
|
|
NM_001844.5(COL2A1):c.3909C>T (p.Asn1303=)
|
|
|
NM_001844.5(COL2A1):c.390A>G (p.Glu130=)
|
|
|
NM_001844.5(COL2A1):c.3913G>A (p.Gly1305Ser)
|
|
|
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala)
|
rs121912887
|
|
NM_001844.5(COL2A1):c.3919A>G (p.Thr1307Ala)
|
|
|
NM_001844.5(COL2A1):c.391C>T (p.Gln131Ter)
|
|
|
NM_001844.5(COL2A1):c.3922T>C (p.Leu1308=)
|
rs564976657
|
|
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.3928G>A (p.Ala1310Thr)
|
|
|
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.3936G>A (p.Lys1312=)
|
|
|
NM_001844.5(COL2A1):c.393del (p.Gly132fs)
|
|
|
NM_001844.5(COL2A1):c.3949A>G (p.Met1317Val)
|
|
|
NM_001844.5(COL2A1):c.3950T>A (p.Met1317Lys)
|
rs1555164561
|
|
NM_001844.5(COL2A1):c.3961G>T (p.Glu1321Ter)
|
|
|
NM_001844.5(COL2A1):c.3965C>A (p.Thr1322Asn)
|
|
|
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.3969C>G (p.Cys1323Trp)
|
|
|
NM_001844.5(COL2A1):c.396A>G (p.Gly132=)
|
|
|
NM_001844.5(COL2A1):c.396A>T (p.Gly132=)
|
|
|
NM_001844.5(COL2A1):c.3976C>G (p.Pro1326Ala)
|
|
|
NM_001844.5(COL2A1):c.3978C>T (p.Pro1326=)
|
|
|
NM_001844.5(COL2A1):c.3978_3979insG (p.Asn1327fs)
|
rs2136508488
|
|
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)
|
rs2136508504
|
|
NM_001844.5(COL2A1):c.3987A>C (p.Ala1329=)
|
|
|
NM_001844.5(COL2A1):c.3994C>T (p.Pro1332Ser)
|
rs2136508378
|
|
NM_001844.5(COL2A1):c.3996del (p.Lys1333fs)
|
rs2136508368
|
|
NM_001844.5(COL2A1):c.3997A>C (p.Lys1333Gln)
|
|
|
NM_001844.5(COL2A1):c.3999G>A (p.Lys1333=)
|
rs2136508356
|
|
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=)
|
|
|
NM_001844.5(COL2A1):c.4006T>C (p.Trp1336Arg)
|
|
|
NM_001844.5(COL2A1):c.4008G>A (p.Trp1336Ter)
|
rs1565666048
|
|
NM_001844.5(COL2A1):c.4011G>A (p.Trp1337Ter)
|
|
|
NM_001844.5(COL2A1):c.4012A>G (p.Ser1338Gly)
|
rs2136508315
|
|
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.4025del (p.Lys1342fs)
|
rs2136508191
|
|
NM_001844.5(COL2A1):c.4027_4029del (p.Glu1343del)
|
rs2136508179
|
|
NM_001844.5(COL2A1):c.402dup (p.Gly135fs)
|
rs2136627628
|
|
NM_001844.5(COL2A1):c.4055C>T (p.Thr1352Ile)
|
rs2136508104
|
|
NM_001844.5(COL2A1):c.4057A>G (p.Ile1353Val)
|
|
|
NM_001844.5(COL2A1):c.4058T>C (p.Ile1353Thr)
|
|
|
NM_001844.5(COL2A1):c.405G>C (p.Gly135=)
|
|
|
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile)
|
rs200621622
|
|
NM_001844.5(COL2A1):c.4068dup (p.Phe1357fs)
|
rs2136508009
|
|
NM_001844.5(COL2A1):c.406del (p.Asp136fs)
|
|
|
NM_001844.5(COL2A1):c.4073A>G (p.His1358Arg)
|
|
|
NM_001844.5(COL2A1):c.4073A>T (p.His1358Leu)
|
|
|
NM_001844.5(COL2A1):c.4074+13G>A
|
|
|
NM_001844.5(COL2A1):c.4074+15G>A
|
|
|
NM_001844.5(COL2A1):c.4074+16C>G
|
|
|
NM_001844.5(COL2A1):c.4074+16C>T
|
|
|
NM_001844.5(COL2A1):c.4074+1G>A
|
rs2136507956
|
|
NM_001844.5(COL2A1):c.4074+2T>G
|
|
|
NM_001844.5(COL2A1):c.4074+50_4074+51del
|
rs41272763
|
|
NM_001844.5(COL2A1):c.4074+5G>A
|
|
|
NM_001844.5(COL2A1):c.4074+8C>A
|
|
|
NM_001844.5(COL2A1):c.4074+8C>G
|
|
|
NM_001844.5(COL2A1):c.4075-14C>T
|
|
|
NM_001844.5(COL2A1):c.4075-17G>C
|
|
|
NM_001844.5(COL2A1):c.4075-18C>G
|
|
|
NM_001844.5(COL2A1):c.4075-18C>T
|
|
|
NM_001844.5(COL2A1):c.4075-1G>C
|
rs2136506437
|
|
NM_001844.5(COL2A1):c.4075-1G>T
|
rs2136506437
|
|
NM_001844.5(COL2A1):c.4075-3C>G
|
rs757931927
|
|
NM_001844.5(COL2A1):c.4075-57C>A
|
rs41272765
|
|
NM_001844.5(COL2A1):c.4075-7C>T
|
|
|
NM_001844.5(COL2A1):c.4078A>G (p.Ser1360Gly)
|
rs2136506426
|
|
NM_001844.5(COL2A1):c.4081T>G (p.Tyr1361Asp)
|
|
|
NM_001844.5(COL2A1):c.4082A>G (p.Tyr1361Cys)
|
|
|
NM_001844.5(COL2A1):c.4091A>C (p.Asp1364Ala)
|
rs2136506322
|
|
NM_001844.5(COL2A1):c.4092C>T (p.Asp1364=)
|
|
|
NM_001844.5(COL2A1):c.4098G>C (p.Leu1366=)
|
|
|
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>C (p.Gln1374Pro)
|
|
|
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.4127C>A (p.Thr1376Asn)
|
|
|
NM_001844.5(COL2A1):c.4127_4128dup (p.Phe1377fs)
|
|
|
NM_001844.5(COL2A1):c.4135C>A (p.Arg1379Ser)
|
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
NM_001844.5(COL2A1):c.4137C>T (p.Arg1379=)
|
rs2136505936
|
|
NM_001844.5(COL2A1):c.4142_4143insCCACGGACGTAGA (p.Ser1382fs)
|
|
|
NM_001844.5(COL2A1):c.4143G>A (p.Leu1381=)
|
|
|
NM_001844.5(COL2A1):c.4146C>T (p.Ser1382=)
|
|
|
NM_001844.5(COL2A1):c.4150G>A (p.Glu1384Lys)
|
|
|
NM_001844.5(COL2A1):c.4152A>G (p.Glu1384=)
|
|
|
NM_001844.5(COL2A1):c.4157C>A (p.Ser1386Tyr)
|
|
|
NM_001844.5(COL2A1):c.4159C>T (p.Gln1387Ter)
|
rs2136505738
|
|
NM_001844.5(COL2A1):c.4166_4168del (p.Ile1389del)
|
rs1064796170
|
|
NM_001844.5(COL2A1):c.416A>G (p.Asp139Gly)
|
rs2136627532
|
|
NM_001844.5(COL2A1):c.4170C>T (p.Thr1390=)
|
|
|
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)
|
rs121912889
|
|
NM_001844.5(COL2A1):c.4175_4176dup (p.Cys1393fs)
|
|
|
NM_001844.5(COL2A1):c.4177T>G (p.Cys1393Gly)
|
rs2136505545
|
|
NM_001844.5(COL2A1):c.4194C>T (p.Ala1398=)
|
rs924835572
|
|
NM_001844.5(COL2A1):c.4195_4205delinsAGCATTGCC (p.Tyr1399fs)
|
rs1555164385
|
|
NM_001844.5(COL2A1):c.4205A>T (p.Glu1402Val)
|
rs1938575798
|
|
NM_001844.5(COL2A1):c.4206A>G (p.Glu1402=)
|
rs2136505390
|
|
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.4228G>A (p.Ala1410Thr)
|
rs1057524467
|
|
NM_001844.5(COL2A1):c.4229C>A (p.Ala1410Asp)
|
rs2136505279
|
|
NM_001844.5(COL2A1):c.4231_4240del (p.Leu1411fs)
|
|
|
NM_001844.5(COL2A1):c.4232T>C (p.Leu1411Pro)
|
rs2136505266
|
|
NM_001844.5(COL2A1):c.4235T>A (p.Leu1412His)
|
|
|
NM_001844.5(COL2A1):c.4239C>T (p.Ile1413=)
|
rs1565665102
|
|
NM_001844.5(COL2A1):c.423T>G (p.Gly141=)
|
|
|
NM_001844.5(COL2A1):c.4240C>T (p.Gln1414Ter)
|
|
|
NM_001844.5(COL2A1):c.4245C>T (p.Gly1415=)
|
|
|
NM_001844.5(COL2A1):c.4254C>G (p.Asp1418Glu)
|
rs748658390
|
|
NM_001844.5(COL2A1):c.4254del (p.Asp1418fs)
|
|
|
NM_001844.5(COL2A1):c.4259A>C (p.Glu1420Ala)
|
|
|
NM_001844.5(COL2A1):c.4266G>A (p.Arg1422=)
|
|
|
NM_001844.5(COL2A1):c.4268C>G (p.Ala1423Gly)
|
|
|
NM_001844.5(COL2A1):c.4272G>A (p.Glu1424=)
|
|
|
NM_001844.5(COL2A1):c.4281C>G (p.Ser1427Arg)
|
|
|
NM_001844.5(COL2A1):c.429+12G>A
|
|
|
NM_001844.5(COL2A1):c.429+1G>C
|
|
|
NM_001844.5(COL2A1):c.429+8A>C
|
|
|
NM_001844.5(COL2A1):c.4291T>C (p.Tyr1431His)
|
rs1938571833
|
|
NM_001844.5(COL2A1):c.4293C>A (p.Tyr1431Ter)
|
rs2136504848
|
|
NM_001844.5(COL2A1):c.4299C>T (p.Ala1433=)
|
|
|
NM_001844.5(COL2A1):c.430-10T>C
|
|
|
NM_001844.5(COL2A1):c.430-11T>C
|
|
|
NM_001844.5(COL2A1):c.430-12C>G
|
|
|
NM_001844.5(COL2A1):c.430-1G>A
|
rs2136626600
|
|
NM_001844.5(COL2A1):c.430-23_441del
|
rs1940028187
|
|
NM_001844.5(COL2A1):c.430-2A>T
|
|
|
NM_001844.5(COL2A1):c.430-7T>A
|
rs2136626631
|
|
NM_001844.5(COL2A1):c.4303A>T (p.Lys1435Ter)
|
|
|
NM_001844.5(COL2A1):c.4306G>A (p.Asp1436Asn)
|
rs794727757
|
|
NM_001844.5(COL2A1):c.4310_4313dup (p.Cys1438fs)
|
rs2136504769
|
|
NM_001844.5(COL2A1):c.4315A>G (p.Thr1439Ala)
|
|
|
NM_001844.5(COL2A1):c.4317+10G>A
|
|
|
NM_001844.5(COL2A1):c.4317+13G>T
|
|
|
NM_001844.5(COL2A1):c.4317+15C>T
|
rs1370882684
|
|
NM_001844.5(COL2A1):c.4317+19G>A
|
|
|
NM_001844.5(COL2A1):c.4317+1del
|
rs2136504675
|
|
NM_001844.5(COL2A1):c.4317+2T>G
|
rs2136504658
|
|
NM_001844.5(COL2A1):c.4317G>A (p.Thr1439=)
|
|
|
NM_001844.5(COL2A1):c.4317_4317+3dup
|
|
|
NM_001844.5(COL2A1):c.4318-23CCT[2]
|
|
|
NM_001844.5(COL2A1):c.4318-31_4318-15del
|
|
|
NM_001844.5(COL2A1):c.4318-4C>G
|
rs2136502748
|
|
NM_001844.5(COL2A1):c.4318-6C>T
|
rs2136502761
|
|
NM_001844.5(COL2A1):c.4318A>G (p.Lys1440Glu)
|
rs2136502727
|
|
NM_001844.5(COL2A1):c.4319_4322dup (p.His1441fs)
|
|
|
NM_001844.5(COL2A1):c.4320A>T (p.Lys1440Asn)
|
|
|
NM_001844.5(COL2A1):c.4323_4324del (p.Thr1442fs)
|
rs2136502670
|
|
NM_001844.5(COL2A1):c.4325C>A (p.Thr1442Asn)
|
rs750624540
|
|
NM_001844.5(COL2A1):c.4326_4330delinsTGTTTCT (p.Gly1443fs)
|
rs2136502573
|
|
NM_001844.5(COL2A1):c.4328del (p.Gly1443fs)
|
rs1555164232
|
|
NM_001844.5(COL2A1):c.4340A>G (p.Lys1447Arg)
|
|
|
NM_001844.5(COL2A1):c.4343C>T (p.Thr1448Ile)
|
|
|
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val)
|
rs113238468
|
|
NM_001844.5(COL2A1):c.4351G>A (p.Glu1451Lys)
|
|
|
NM_001844.5(COL2A1):c.4352A>G (p.Glu1451Gly)
|
|
|
NM_001844.5(COL2A1):c.4355A>G (p.Tyr1452Cys)
|
|
|
NM_001844.5(COL2A1):c.4356C>T (p.Tyr1452=)
|
rs2136502370
|
|
NM_001844.5(COL2A1):c.4363C>T (p.Gln1455Ter)
|
rs1555164217
|
|
NM_001844.5(COL2A1):c.4370C>G (p.Thr1457Ser)
|
|
|
NM_001844.5(COL2A1):c.4378C>T (p.Leu1460Phe)
|
|
|
NM_001844.5(COL2A1):c.437del (p.Pro146fs)
|
|
|
NM_001844.5(COL2A1):c.4380C>G (p.Leu1460=)
|
|
|
NM_001844.5(COL2A1):c.4380C>T (p.Leu1460=)
|
|
|
NM_001844.5(COL2A1):c.4386C>G (p.Ile1462Met)
|
|
|
NM_001844.5(COL2A1):c.4387A>G (p.Ile1463Val)
|
rs1490116358
|
|
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)
|
rs527236145
|
|
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met)
|
rs1224083058
|
|
NM_001844.5(COL2A1):c.4392C>T (p.Asp1464=)
|
|
|
NM_001844.5(COL2A1):c.4396_4397delinsTT (p.Ala1466Leu)
|
|
|
NM_001844.5(COL2A1):c.4397C>A (p.Ala1466Glu)
|
rs1938536335
|
|
NM_001844.5(COL2A1):c.4397C>T (p.Ala1466Val)
|
|
|
NM_001844.5(COL2A1):c.4405G>T (p.Asp1469Tyr)
|
rs2136502090
|
|
NM_001844.5(COL2A1):c.4408A>G (p.Ile1470Val)
|
|
|
NM_001844.5(COL2A1):c.4409T>C (p.Ile1470Thr)
|
rs1938534876
|
|
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg)
|
rs763352763
|
|
NM_001844.5(COL2A1):c.4415G>A (p.Gly1472Glu)
|
rs773418634
|
|
NM_001844.5(COL2A1):c.441A>G (p.Gly147=)
|
rs200041244
|
|
NM_001844.5(COL2A1):c.4420G>A (p.Glu1474Lys)
|
rs540750398
|
|
NM_001844.5(COL2A1):c.4429T>C (p.Phe1477Leu)
|
rs2136501824
|
|
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala)
|
rs1414146646
|
|
NM_001844.5(COL2A1):c.4443dup (p.Gly1482fs)
|
|
|
NM_001844.5(COL2A1):c.4444G>A (p.Gly1482Arg)
|
rs2136501711
|
|
NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs)
|
rs794727761
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
NM_001844.5(COL2A1):c.4455CTT[1] (p.Phe1486del)
|
|
|
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.450C>G (p.Gly150=)
|
|
|
NM_001844.5(COL2A1):c.451A>G (p.Arg151Gly)
|
|
|
NM_001844.5(COL2A1):c.451A>T (p.Arg151Ter)
|
|
|
NM_001844.5(COL2A1):c.452G>C (p.Arg151Thr)
|
|
|
NM_001844.5(COL2A1):c.456T>C (p.Asp152=)
|
|
|
NM_001844.5(COL2A1):c.460G>T (p.Glu154Ter)
|
rs1228018976
|
|
NM_001844.5(COL2A1):c.460_461del (p.Glu154fs)
|
|
|
NM_001844.5(COL2A1):c.466G>A (p.Gly156Arg)
|
rs2136626415
|
|
NM_001844.5(COL2A1):c.469A>G (p.Thr157Ala)
|
|
|
NM_001844.5(COL2A1):c.472C>T (p.Pro158Ser)
|
rs2136626342
|
|
NM_001844.5(COL2A1):c.474T>C (p.Pro158=)
|
rs2136626332
|
|
NM_001844.5(COL2A1):c.478A>C (p.Asn160His)
|
|
|
NM_001844.5(COL2A1):c.485del (p.Gly162fs)
|
rs2136626297
|
|
NM_001844.5(COL2A1):c.486C>A (p.Gly162=)
|
|
|
NM_001844.5(COL2A1):c.490C>T (p.Pro164Ser)
|
|
|
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.493G>C (p.Gly165Arg)
|
|
|
NM_001844.5(COL2A1):c.497C>T (p.Pro166Leu)
|
|
|
NM_001844.5(COL2A1):c.498T>A (p.Pro166=)
|
|
|
NM_001844.5(COL2A1):c.498_515del (p.163PPG[2])
|
rs2136625933
|
|
NM_001844.5(COL2A1):c.501C>A (p.Pro167=)
|
rs768549401
|
|
NM_001844.5(COL2A1):c.504C>T (p.Gly168=)
|
rs3737548
|
|
NM_001844.5(COL2A1):c.504_505delinsA (p.Pro170fs)
|
rs1592235212
|
|
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr)
|
rs770027510
|
|
NM_001844.5(COL2A1):c.506CCCCTGGTC[3] (p.Gly174_Leu175insProProGly)
|
|
|
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.511_512delinsCT (p.Gly171Leu)
|
rs1555169086
|
|
NM_001844.5(COL2A1):c.514C>G (p.Pro172Ala)
|
|
|
NM_001844.5(COL2A1):c.518dup (p.Gly174fs)
|
|
|
NM_001844.5(COL2A1):c.519T>C (p.Pro173=)
|
|
|
NM_001844.5(COL2A1):c.519del (p.Gly174fs)
|
rs1592235124
|
|
NM_001844.5(COL2A1):c.519dup (p.Gly174fs)
|
rs2136625913
|
|
NM_001844.5(COL2A1):c.51C>T (p.Val17=)
|
rs538730273
|
|
NM_001844.5(COL2A1):c.531+18C>T
|
|
|
NM_001844.5(COL2A1):c.531+19C>G
|
rs2136625752
|
|
NM_001844.5(COL2A1):c.531+1G>A
|
|
|
NM_001844.5(COL2A1):c.531+20A>G
|
|
|
NM_001844.5(COL2A1):c.531+4A>T
|
|
|
NM_001844.5(COL2A1):c.531+9C>T
|
|
|
NM_001844.5(COL2A1):c.532-17G>A
|
|
|
NM_001844.5(COL2A1):c.532-17G>T
|
|
|
NM_001844.5(COL2A1):c.532-19T>C
|
|
|
NM_001844.5(COL2A1):c.532-20G>A
|
|
|
NM_001844.5(COL2A1):c.532-3C>A
|
rs755887776
|
|
NM_001844.5(COL2A1):c.534del (p.Phe179fs)
|
|
|
NM_001844.5(COL2A1):c.540T>C (p.Ala180=)
|
|
|
NM_001844.5(COL2A1):c.542C>T (p.Ala181Val)
|
rs2136622365
|
|
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter)
|
rs886041843
|
|
NM_001844.5(COL2A1):c.550G>T (p.Ala184Ser)
|
|
|
NM_001844.5(COL2A1):c.553GGA[1] (p.Gly186del)
|
rs1173263767
|
|
NM_001844.5(COL2A1):c.570G>A (p.Lys190=)
|
|
|
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.606A>G (p.Pro202=)
|
|
|
NM_001844.5(COL2A1):c.609+10G>T
|
|
|
NM_001844.5(COL2A1):c.609+13A>G
|
|
|
NM_001844.5(COL2A1):c.609+15T>C
|
|
|
NM_001844.5(COL2A1):c.610-16_610-15del
|
rs758007282
|
|
NM_001844.5(COL2A1):c.610-17_617del
|
rs2136619163
|
|
NM_001844.5(COL2A1):c.610-5T>A
|
|
|
NM_001844.5(COL2A1):c.610-5T>C
|
|
|
NM_001844.5(COL2A1):c.610-6A>T
|
|
|
NM_001844.5(COL2A1):c.610-8C>A
|
|
|
NM_001844.5(COL2A1):c.610G>C (p.Gly204Arg)
|
rs2136619174
|
|
NM_001844.5(COL2A1):c.611G>A (p.Gly204Asp)
|
|
|
NM_001844.5(COL2A1):c.612C>T (p.Gly204=)
|
|
|
NM_001844.5(COL2A1):c.613C>T (p.Pro205Ser)
|
|
|
NM_001844.5(COL2A1):c.618G>A (p.Met206Ile)
|
|
|
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.61C>T (p.Leu21Phe)
|
|
|
NM_001844.5(COL2A1):c.622C>T (p.Pro208Ser)
|
|
|
NM_001844.5(COL2A1):c.623C>T (p.Pro208Leu)
|
rs1049536561
|
|
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)
|
rs121912869
|
|
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
|
|
|
NM_001844.5(COL2A1):c.627A>G (p.Arg209=)
|
|
|
NM_001844.5(COL2A1):c.628G>A (p.Gly210Arg)
|
|
|
NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser)
|
rs1565693325
|
|
NM_001844.5(COL2A1):c.635dup (p.Gly213fs)
|
rs1939938528
|
|
NM_001844.5(COL2A1):c.642T>C (p.Pro214=)
|
|
|
NM_001844.5(COL2A1):c.643G>A (p.Ala215Thr)
|
|
|
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu)
|
rs766480693
|
|
NM_001844.5(COL2A1):c.644C>T (p.Ala215Val)
|
|
|
NM_001844.5(COL2A1):c.646G>T (p.Gly216Cys)
|
|
|
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp)
|
rs1064794264
|
|
NM_001844.5(COL2A1):c.64C>A (p.Arg22=)
|
|
|
NM_001844.5(COL2A1):c.651T>C (p.Ala217=)
|
|
|
NM_001844.5(COL2A1):c.654+12C>T
|
rs2136618935
|
|
NM_001844.5(COL2A1):c.654+13A>G
|
|
|
NM_001844.5(COL2A1):c.654+15T>A
|
|
|
NM_001844.5(COL2A1):c.654+1G>A
|
rs2136618972
|
|
NM_001844.5(COL2A1):c.654+5G>T
|
rs2136618948
|
|
NM_001844.5(COL2A1):c.655-18C>A
|
rs777588788
|
|
NM_001844.5(COL2A1):c.655-18C>T
|
|
|
NM_001844.5(COL2A1):c.655-1G>C
|
rs1555168840
|
|
NM_001844.5(COL2A1):c.655-2A>C
|
rs2136618395
|
|
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.672A>G (p.Gln224=)
|
|
|
NM_001844.5(COL2A1):c.679C>G (p.Pro227Ala)
|
|
|
NM_001844.5(COL2A1):c.683G>A (p.Gly228Asp)
|
rs2136618285
|
|
NM_001844.5(COL2A1):c.686AACCTGGTG[1] (p.229EPG[1])
|
|
|
NM_001844.5(COL2A1):c.686AACCTGGTG[3] (p.Gly234_Val235insGluProGly)
|
|
|
NM_001844.5(COL2A1):c.689C>G (p.Pro230Arg)
|
|
|
NM_001844.5(COL2A1):c.6dup (p.Arg3fs)
|
|
|
NM_001844.5(COL2A1):c.701G>A (p.Gly234Asp)
|
|
|
NM_001844.5(COL2A1):c.703G>T (p.Val235Phe)
|
|
|
NM_001844.5(COL2A1):c.708+15G>A
|
|
|
NM_001844.5(COL2A1):c.708+16G>A
|
|
|
NM_001844.5(COL2A1):c.708+2_708+3del
|
rs2136618158
|
|
NM_001844.5(COL2A1):c.709-13C>T
|
|
|
NM_001844.5(COL2A1):c.709-16C>A
|
rs1434955965
|
|
NM_001844.5(COL2A1):c.709-1G>A
|
rs2136616554
|
|
NM_001844.5(COL2A1):c.709-1G>C
|
rs2136616554
|
|
NM_001844.5(COL2A1):c.709-7T>C
|
rs2136616573
|
|
NM_001844.5(COL2A1):c.711T>C (p.Gly237=)
|
|
|
NM_001844.5(COL2A1):c.714dup (p.Met239fs)
|
rs886043934
|
|
NM_001844.5(COL2A1):c.715A>G (p.Met239Val)
|
rs1350339086
|
|
NM_001844.5(COL2A1):c.717G>A (p.Met239Ile)
|
|
|
NM_001844.5(COL2A1):c.717G>C (p.Met239Ile)
|
|
|
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp)
|
rs1592232040
|
|
NM_001844.5(COL2A1):c.720T>A (p.Gly240=)
|
|
|
NM_001844.5(COL2A1):c.728G>T (p.Gly243Val)
|
rs2136616399
|
|
NM_001844.5(COL2A1):c.733C>T (p.Pro245Ser)
|
|
|
NM_001844.5(COL2A1):c.733_753del (p.Pro245_Pro251del)
|
rs2136616143
|
|
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.743del (p.Pro248fs)
|
|
|
NM_001844.5(COL2A1):c.744T>G (p.Pro248=)
|
rs2136616217
|
|
NM_001844.5(COL2A1):c.74G>C (p.Gly25Ala)
|
rs1940368906
|
|
NM_001844.5(COL2A1):c.762+12C>T
|
|
|
NM_001844.5(COL2A1):c.762+1G>A
|
rs794727026
|
|
NM_001844.5(COL2A1):c.762+20_762+21delinsAC
|
rs2136615924
|
|
NM_001844.5(COL2A1):c.762+5G>A
|
|
|
NM_001844.5(COL2A1):c.762+8T>C
|
rs1360567173
|
|
NM_001844.5(COL2A1):c.763-19TC[4]
|
|
|
NM_001844.5(COL2A1):c.763-19TC[5]
|
rs139162796
|
|
NM_001844.5(COL2A1):c.763-19TC[7]
|
rs139162796
|
|
NM_001844.5(COL2A1):c.763-4T>G
|
|
|
NM_001844.5(COL2A1):c.763-5T>A
|
rs2136612715
|
|
NM_001844.5(COL2A1):c.763-7C>T
|
|
|
NM_001844.5(COL2A1):c.763G>A (p.Gly255Ser)
|
rs2136612683
|
|
NM_001844.5(COL2A1):c.767A>G (p.Glu256Gly)
|
rs2136612672
|
|
NM_001844.5(COL2A1):c.76C>T (p.Gln26Ter)
|
|
|
NM_001844.5(COL2A1):c.770C>G (p.Ala257Gly)
|
|
|
NM_001844.5(COL2A1):c.781G>T (p.Gly261Ter)
|
rs2136612635
|
|
NM_001844.5(COL2A1):c.785A>G (p.Lys262Arg)
|
|
|
NM_001844.5(COL2A1):c.796A>G (p.Arg266Gly)
|
|
|
NM_001844.5(COL2A1):c.7C>A (p.Arg3Ser)
|
|
|
NM_001844.5(COL2A1):c.805C>T (p.Pro269Ser)
|
rs2136612454
|
|
NM_001844.5(COL2A1):c.813T>C (p.Pro271=)
|
|
|
NM_001844.5(COL2A1):c.814C>T (p.Gln272Ter)
|
|
|
NM_001844.5(COL2A1):c.816+12C>G
|
rs1438234538
|
|
NM_001844.5(COL2A1):c.816+4A>C
|
rs754219474
|
|
NM_001844.5(COL2A1):c.816+6C>A
|
rs766892635
|
|
NM_001844.5(COL2A1):c.816+8C>T
|
rs1592230791
|
|
NM_001844.5(COL2A1):c.817-19C>T
|
rs1431355990
|
|
NM_001844.5(COL2A1):c.817-1G>C
|
|
|
NM_001844.5(COL2A1):c.817-2A>C
|
rs2136610697
|
|
NM_001844.5(COL2A1):c.817-5T>G
|
|
|
NM_001844.5(COL2A1):c.817-6T>G
|
rs1555168542
|
|
NM_001844.5(COL2A1):c.817-9G>A
|
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001844.5(COL2A1):c.824G>A (p.Arg275His)
|
|
|
NM_001844.5(COL2A1):c.827G>A (p.Gly276Asp)
|
|
|
NM_001844.5(COL2A1):c.827del (p.Gly276fs)
|
|
|
NM_001844.5(COL2A1):c.833C>T (p.Pro278Leu)
|
|
|
NM_001844.5(COL2A1):c.835G>A (p.Gly279Arg)
|
|
|
NM_001844.5(COL2A1):c.835G>T (p.Gly279Ter)
|
rs2136610618
|
|
NM_001844.5(COL2A1):c.837A>T (p.Gly279=)
|
|
|
NM_001844.5(COL2A1):c.840C>G (p.Thr280=)
|
rs574159923
|
|
NM_001844.5(COL2A1):c.846C>T (p.Gly282=)
|
|
|
NM_001844.5(COL2A1):c.847C>T (p.Leu283Phe)
|
|
|
NM_001844.5(COL2A1):c.85+10C>A
|
rs769941617
|
|
NM_001844.5(COL2A1):c.85+11C>T
|
rs2136652521
|
|
NM_001844.5(COL2A1):c.85+13C>T
|
|
|
NM_001844.5(COL2A1):c.85+14C>G
|
|
|
NM_001844.5(COL2A1):c.85+15G>A
|
|
|
NM_001844.5(COL2A1):c.85+17_85+18delinsTG
|
|
|
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.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.85C>T (p.Gln29Ter)
|
rs1940368506
|
|
NM_001844.5(COL2A1):c.86-11C>A
|
rs1940164478
|
|
NM_001844.5(COL2A1):c.86-14C>A
|
rs745469244
|
|
NM_001844.5(COL2A1):c.86-17C>T
|
rs778074330
|
|
NM_001844.5(COL2A1):c.86-18T>A
|
|
|
NM_001844.5(COL2A1):c.86-1G>A
|
|
|
NM_001844.5(COL2A1):c.86-1G>C
|
|
|
NM_001844.5(COL2A1):c.86-46C>G
|
|
|
NM_001844.5(COL2A1):c.86-50C>T
|
rs183224734
|
|
NM_001844.5(COL2A1):c.86-7G>A
|
rs2136637630
|
|
NM_001844.5(COL2A1):c.86-8T>A
|
|
|
NM_001844.5(COL2A1):c.86-8T>C
|
rs1168355361
|
|
NM_001844.5(COL2A1):c.863G>A (p.Gly288Asp)
|
|
|
NM_001844.5(COL2A1):c.868A>G (p.Arg290Gly)
|
|
|
NM_001844.5(COL2A1):c.870+13G>T
|
|
|
NM_001844.5(COL2A1):c.870+19A>C
|
|
|
NM_001844.5(COL2A1):c.870+1G>A
|
rs2136610457
|
|
NM_001844.5(COL2A1):c.870+20A>T
|
rs2136610293
|
|
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.871-11T>C
|
rs2136609768
|
|
NM_001844.5(COL2A1):c.871-15T>G
|
rs1592229830
|
|
NM_001844.5(COL2A1):c.871-2del
|
|
|
NM_001844.5(COL2A1):c.871-6C>G
|
|
|
NM_001844.5(COL2A1):c.872G>T (p.Gly291Val)
|
|
|
NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn)
|
rs1291318209
|
|
NM_001844.5(COL2A1):c.881G>T (p.Gly294Val)
|
|
|
NM_001844.5(COL2A1):c.883del (p.Leu295fs)
|
rs1939822590
|
|
NM_001844.5(COL2A1):c.887A>G (p.Asp296Gly)
|
rs2136609666
|
|
NM_001844.5(COL2A1):c.889G>A (p.Gly297Ser)
|
|
|
NM_001844.5(COL2A1):c.890G>A (p.Gly297Asp)
|
|
|
NM_001844.5(COL2A1):c.894del (p.Lys299fs)
|
|
|
NM_001844.5(COL2A1):c.897G>A (p.Lys299=)
|
rs1592229736
|
|
NM_001844.5(COL2A1):c.897G>C (p.Lys299Asn)
|
|
|
NM_001844.5(COL2A1):c.899G>A (p.Gly300Glu)
|
|
|
NM_001844.5(COL2A1):c.903G>C (p.Glu301Asp)
|
|
|
NM_001844.5(COL2A1):c.903G>T (p.Glu301Asp)
|
rs1939821446
|
|
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.908G>T (p.Gly303Val)
|
|
|
NM_001844.5(COL2A1):c.910G>T (p.Ala304Ser)
|
rs984944183
|
|
NM_001844.5(COL2A1):c.917G>A (p.Gly306Asp)
|
rs2136609413
|
|
NM_001844.5(COL2A1):c.919G>A (p.Val307Met)
|
rs2136609377
|
|
NM_001844.5(COL2A1):c.91G>A (p.Ala31Thr)
|
|
|
NM_001844.5(COL2A1):c.924+19C>G
|
|
|
NM_001844.5(COL2A1):c.924+19del
|
|
|
NM_001844.5(COL2A1):c.924+20A>G
|
|
|
NM_001844.5(COL2A1):c.924+2T>G
|
|
|
NM_001844.5(COL2A1):c.925-14C>T
|
rs769972563
|
|
NM_001844.5(COL2A1):c.925-49C>A
|
rs41317905
|
|
NM_001844.5(COL2A1):c.925-9T>C
|
|
|
NM_001844.5(COL2A1):c.926G>A (p.Gly309Asp)
|
rs2136608011
|
|
NM_001844.5(COL2A1):c.930G>C (p.Glu310Asp)
|
|
|
NM_001844.5(COL2A1):c.930dup (p.Ser311fs)
|
|
|
NM_001844.5(COL2A1):c.932G>A (p.Ser311Asn)
|
rs2136607964
|
|
NM_001844.5(COL2A1):c.946G>A (p.Glu316Lys)
|
|
|
NM_001844.5(COL2A1):c.94G>A (p.Gly32Ser)
|
rs779475416
|
|
NM_001844.5(COL2A1):c.951C>T (p.Asn317=)
|
|
|
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg)
|
rs121912894
|
|
NM_001844.5(COL2A1):c.953G>T (p.Gly318Val)
|
rs2136607793
|
|
NM_001844.5(COL2A1):c.964C>T (p.Pro322Ser)
|
|
|
NM_001844.5(COL2A1):c.967A>G (p.Met323Val)
|
|
|
NM_001844.5(COL2A1):c.969+10G>A
|
|
|
NM_001844.5(COL2A1):c.969+11A>G
|
|
|
NM_001844.5(COL2A1):c.969+17T>C
|
|
|
NM_001844.5(COL2A1):c.970-14G>A
|
|
|
NM_001844.5(COL2A1):c.970-1G>A
|
|
|
NM_001844.5(COL2A1):c.970-2A>G
|
|
|
NM_001844.5(COL2A1):c.970-5T>C
|
rs2136605096
|
|
NM_001844.5(COL2A1):c.970-7G>A
|
|
|
NM_001844.5(COL2A1):c.970-9G>T
|
rs2136605147
|
|
NM_001844.5(COL2A1):c.972T>C (p.Gly324=)
|
rs2136605039
|
|
NM_001844.5(COL2A1):c.972T>G (p.Gly324=)
|
rs2136605039
|
|
NM_001844.5(COL2A1):c.977G>A (p.Arg326His)
|
|
|
NM_001844.5(COL2A1):c.980del (p.Gly327fs)
|
|
|
NM_001844.5(COL2A1):c.982C>T (p.Leu328=)
|
|
|
NM_001844.5(COL2A1):c.988G>A (p.Gly330Ser)
|
rs2136604937
|
|
NM_001844.5(COL2A1):c.990T>C (p.Gly330=)
|
|
|
NM_001844.5(COL2A1):c.990_991del (p.Glu331fs)
|
|
|
NM_001844.5(COL2A1):c.992A>G (p.Glu331Gly)
|
|
|
NM_001844.5(COL2A1):c.997G>A (p.Gly333Arg)
|
|
|
NM_001844.5(COL2A1):c.997G>C (p.Gly333Arg)
|
|
|
NM_001844.5(COL2A1):c.9C>T (p.Arg3=)
|
rs2136652893
|
|