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.3508G>A (p.Gly1170Ser)
|
rs121912891
|
0.00001
|
COL2A1, GLY1092ASP (rs794727684)
|
|
|
COL2A1, GLY861VAL
|
|
|
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)
|
rs121912871
|
|
NM_001844.5(COL2A1):c.1222-2A>G
|
rs2136577259
|
|
NM_001844.5(COL2A1):c.1266+1del
|
rs587776847
|
|
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter)
|
rs121912896
|
|
NM_001844.5(COL2A1):c.1420-2A>G
|
rs794727377
|
|
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val)
|
rs121912881
|
|
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)
|
rs121912880
|
|
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)
|
rs121912888
|
|
NM_001844.5(COL2A1):c.1581+5G>A
|
rs1408154129
|
|
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.192C>A (p.Cys64Ter)
|
rs121912897
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser)
|
rs387906558
|
|
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser)
|
rs121912867
|
|
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)
|
rs121912879
|
|
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.2794C>T (p.Arg932Ter)
|
rs121912866
|
|
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)
|
rs121912878
|
|
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.3138del (p.Gly1047fs)
|
rs121912873
|
|
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu)
|
rs121912868
|
|
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)
|
rs121912864
|
|
NM_001844.5(COL2A1):c.3489+163_3597+2del
|
rs1555164872
|
|
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.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.3886+2T>C
|
rs1592196064
|
|
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)
|
rs2136508504
|
|
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.4337del (p.Gly1446fs)
|
rs1565664375
|
|
NM_001844.5(COL2A1):c.4413_4416del (p.Gly1472fs)
|
rs1592192920
|
|
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.709-2A>G
|
rs1592232116
|
|
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)
|
rs121912872
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001844.5(COL2A1):c.906_924+9del
|
rs2136609285
|
|
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp)
|
rs121912877
|
|
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg)
|
rs121912894
|
|
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)
|
rs1553669703
|
|
NM_212482.4(FN1):c.367T>C (p.Cys123Arg)
|
rs1553667072
|
|
NM_212482.4(FN1):c.675C>G (p.Cys225Trp)
|
rs1181638652
|
|
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)
|
rs1553659131
|
|