|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
|
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)
|
rs1025202963
|
|
|
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.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.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.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.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.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
|
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.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.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.3363dup (p.Gly1122fs)
|
|
|
|
NM_001844.5(COL2A1):c.3436-1G>A
|
rs2136516942
|
|
|
NM_001844.5(COL2A1):c.3484_3485del (p.Gly1161_Pro1162insTer)
|
|
|
|
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.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.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.823C>T (p.Arg275Cys)
|
rs121912876
|
|
|
NM_001844.5(COL2A1):c.925-1G>A
|
|
|