NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
|
rs121912886
|
0.00005
|
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys)
|
rs121912865
|
0.00001
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)
|
rs121912891
|
0.00001
|
NM_001844.5(COL2A1):c.1023+1G>C
|
rs886043794
|
|
NM_001844.5(COL2A1):c.1023+2T>A
|
rs2136604599
|
|
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)
|
rs121912871
|
|
NM_001844.5(COL2A1):c.1068+1G>C
|
rs2136590070
|
|
NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser)
|
rs1423486005
|
|
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg)
|
rs1085307657
|
|
NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg)
|
rs1555167783
|
|
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)
|
rs1045330263
|
|
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)
|
rs1025202963
|
|
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup)
|
rs672601355
|
|
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg)
|
rs2136579152
|
|
NM_001844.5(COL2A1):c.1222-2A>G
|
rs2136577259
|
|
NM_001844.5(COL2A1):c.1250G>T (p.Gly417Val)
|
rs2136577094
|
|
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
|
|
|
NM_001844.5(COL2A1):c.1266+1G>T
|
|
|
NM_001844.5(COL2A1):c.1266+1del
|
rs587776847
|
|
NM_001844.5(COL2A1):c.1267-2_1269del
|
rs2136576211
|
|
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg)
|
rs2136575653
|
|
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
|
|
|
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter)
|
rs121912896
|
|
NM_001844.5(COL2A1):c.1420-1G>A
|
|
|
NM_001844.5(COL2A1):c.1420-2A>G
|
rs794727377
|
|
NM_001844.5(COL2A1):c.1420-7_1430del
|
rs1565683138
|
|
NM_001844.5(COL2A1):c.1421_1426del (p.Gly474_Pro475del)
|
rs2136571551
|
|
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val)
|
rs121912881
|
|
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)
|
rs2136571005
|
|
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.1528-2del
|
|
|
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)
|
rs121912888
|
|
NM_001844.5(COL2A1):c.1581+5G>A
|
rs1408154129
|
|
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)
|
rs1085307608
|
|
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)
|
rs886044555
|
|
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val)
|
rs121912899
|
|
NM_001844.5(COL2A1):c.1680+1G>A
|
rs1057524696
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr)
|
rs121912898
|
|
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer)
|
rs2136637244
|
|
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg)
|
rs2136564199
|
|
NM_001844.5(COL2A1):c.1802_1833+55del
|
|
|
NM_001844.5(COL2A1):c.1833+1G>A
|
rs1939312423
|
|
NM_001844.5(COL2A1):c.1887+1G>A
|
rs2136561510
|
|
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)
|
rs121912897
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)
|
rs1555166729
|
|
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)
|
rs1939205327
|
|
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp)
|
rs1565679062
|
|
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)
|
rs1565679039
|
|
NM_001844.5(COL2A1):c.2094+1G>C
|
rs2136552560
|
|
NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys)
|
rs2136551691
|
|
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)
|
rs1555166555
|
|
NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser)
|
rs387906558
|
|
NM_001844.5(COL2A1):c.2219del (p.Pro740fs)
|
rs1565677720
|
|
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg)
|
rs2136548994
|
|
NM_001844.5(COL2A1):c.2302-1G>T
|
|
|
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser)
|
rs121912867
|
|
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)
|
rs886043410
|
|
NM_001844.5(COL2A1):c.2355+1G>A
|
rs1939124946
|
|
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)
|
rs1555166218
|
|
NM_001844.5(COL2A1):c.2491G>T (p.Gly831Ter)
|
|
|
NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp)
|
rs1209546147
|
|
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)
|
rs794727261
|
|
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)
|
rs886042849
|
|
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)
|
rs886041429
|
|
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)
|
rs886041713
|
|
NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser)
|
rs121912879
|
|
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)
|
rs121912879
|
|
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
|
rs1938958532
|
|
NM_001844.5(COL2A1):c.2679+1G>A
|
rs1592205758
|
|
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys)
|
rs121912875
|
|
NM_001844.5(COL2A1):c.2751del (p.Gly918fs)
|
rs2136528572
|
|
NM_001844.5(COL2A1):c.2780G>T (p.Gly927Val)
|
|
|
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.2814del (p.Gly939fs)
|
rs1555165494
|
|
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)
|
rs1057524114
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
NM_001844.5(COL2A1):c.2858del (p.Pro953fs)
|
rs2136527926
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
NM_001844.5(COL2A1):c.2895+1G>C
|
|
|
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)
|
rs121912878
|
|
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)
|
rs1592202517
|
|
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
|
|
|
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)
|
rs2136526515
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly)
|
rs121912895
|
|
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)
|
rs765795867
|
|
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
|
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
NM_001844.5(COL2A1):c.3111+2T>C
|
rs1938818395
|
|
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)
|
rs2136522964
|
|
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)
|
rs121912873
|
|
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu)
|
rs121912868
|
|
NM_001844.5(COL2A1):c.3166-1G>A
|
rs1555165204
|
|
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)
|
rs121912864
|
|
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)
|
rs2136521006
|
|
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter)
|
rs2136520087
|
|
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg)
|
rs864621973
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys)
|
rs2136518773
|
|
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs)
|
rs672601354
|
|
NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs)
|
|
|
NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del)
|
rs1938718648
|
|
NM_001844.5(COL2A1):c.3454G>C (p.Gly1152Arg)
|
rs1592198747
|
|
NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser)
|
|
|
NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg)
|
rs2136516744
|
|
NM_001844.5(COL2A1):c.3489+163_3597+2del
|
rs1555164872
|
|
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)
|
rs2136514646
|
|
NM_001844.5(COL2A1):c.3510_3554dup (p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro)
|
rs2136514302
|
|
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg)
|
rs121912883
|
|
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg)
|
rs1938688718
|
|
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu)
|
rs2136514291
|
|
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)
|
rs886042651
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3598-1G>A
|
rs1592196867
|
|
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala)
|
|
|
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)
|
rs1592196744
|
|
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)
|
rs1481453913
|
|
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs)
|
rs1555164735
|
|
NM_001844.5(COL2A1):c.3886+2T>C
|
rs1592196064
|
|
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
|
rs2136508909
|
|
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)
|
rs2136508504
|
|
NM_001844.5(COL2A1):c.4074+1G>A
|
rs2136507956
|
|
NM_001844.5(COL2A1):c.4085del (p.Gly1362fs)
|
|
|
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)
|
rs2136505595
|
|
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)
|
rs121912889
|
|
NM_001844.5(COL2A1):c.4287_4291dup (p.Tyr1431fs)
|
rs2136504869
|
|
NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter)
|
rs121912890
|
|
NM_001844.5(COL2A1):c.4317+1G>T
|
rs2136504667
|
|
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)
|
rs1565664375
|
|
NM_001844.5(COL2A1):c.4413_4416del (p.Gly1472fs)
|
rs1592192920
|
|
NM_001844.5(COL2A1):c.491del (p.Pro164fs)
|
rs1592235241
|
|
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)
|
rs1592235241
|
|
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
|
|
|
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
|
|
|
NM_001844.5(COL2A1):c.569del (p.Lys190fs)
|
rs2136622208
|
|
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs)
|
rs1592233968
|
|
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg)
|
rs869312907
|
|
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)
|
rs121912869
|
|
NM_001844.5(COL2A1):c.655-2A>G
|
|
|
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)
|
rs1131691822
|
|
NM_001844.5(COL2A1):c.709-2A>G
|
rs1592232116
|
|
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)
|
rs2136616311
|
|
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)
|
rs121912872
|
|
NM_001844.5(COL2A1):c.817-1G>A
|
rs2136610684
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001844.5(COL2A1):c.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.925-1G>A
|
|
|
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg)
|
rs121912894
|
|
NM_001844.5(COL2A1):c.980G>T (p.Gly327Val)
|
rs2136605023
|
|