NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)
|
rs763259234
|
0.00002
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)
|
rs189754995
|
0.00001
|
NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter)
|
rs747896279
|
0.00001
|
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.1222-2A>G
|
rs2136577259
|
|
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
|
|
|
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.1492G>C (p.Gly498Arg)
|
rs2136571005
|
|
NM_001844.5(COL2A1):c.1528-2del
|
|
|
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)
|
rs1085307608
|
|
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.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.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)
|
rs1565679039
|
|
NM_001844.5(COL2A1):c.2094+1G>C
|
rs2136552560
|
|
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)
|
rs1555166555
|
|
NM_001844.5(COL2A1):c.2219del (p.Pro740fs)
|
rs1565677720
|
|
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)
|
rs886043410
|
|
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)
|
rs1555166218
|
|
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)
|
rs794727261
|
|
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.2678dup (p.Ala895fs)
|
rs1938958532
|
|
NM_001844.5(COL2A1):c.2679+1G>A
|
rs1592205758
|
|
NM_001844.5(COL2A1):c.2751del (p.Gly918fs)
|
rs2136528572
|
|
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)
|
rs121912866
|
|
NM_001844.5(COL2A1):c.2814del (p.Gly939fs)
|
rs1555165494
|
|
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)
|
rs1057524114
|
|
NM_001844.5(COL2A1):c.2858del (p.Pro953fs)
|
rs2136527926
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
NM_001844.5(COL2A1):c.2895+1G>C
|
|
|
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)
|
rs1592202517
|
|
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
|
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)
|
rs121912873
|
|
NM_001844.5(COL2A1):c.3166-1G>A
|
rs1555165204
|
|
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.3357_3358insCT (p.Glu1120fs)
|
rs672601354
|
|
NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs)
|
|
|
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)
|
rs2136514646
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3598-1G>A
|
rs1592196867
|
|
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)
|
rs1592196744
|
|
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.4317+1G>T
|
rs2136504667
|
|
NM_001844.5(COL2A1):c.491del (p.Pro164fs)
|
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.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.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)
|
rs1555168505
|
|
NM_001844.5(COL2A1):c.925-1G>A
|
|
|
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg)
|
rs121912894
|
|
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)
|
rs770789859
|
|
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)
|
rs121912931
|
|
NM_001852.4(COL9A2):c.1506del (p.Asn503fs)
|
rs1040081238
|
|
NM_001852.4(COL9A2):c.843_846+4del
|
rs606231376
|
|
NM_001853.4(COL9A3):c.107_116del (p.Pro36fs)
|
rs1470627424
|
|
NM_001853.4(COL9A3):c.1176_1198del (p.Gln393fs)
|
rs606231470
|
|
NM_001853.4(COL9A3):c.1204C>T (p.Arg402Ter)
|
|
|
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)
|
rs1201247953
|
|
NM_001853.4(COL9A3):c.355del (p.Leu119fs)
|
|
|
NM_001853.4(COL9A3):c.647dup (p.Gly217fs)
|
rs2147208658
|
|
NM_001854.4(COL11A1):c.1630-2del
|
rs1057517989
|
|
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)
|
rs121912943
|
|
NM_001854.4(COL11A1):c.3438+2_3438+3del
|
rs1557847904
|
|
NM_001854.4(COL11A1):c.3655-2del
|
rs2101074868
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)
|
rs866783525
|
|
NM_001854.4(COL11A1):c.4519-2del
|
rs2100852418
|
|
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)
|
rs1553193910
|
|
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del)
|
rs574365163
|
|