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.1023+1G>A
|
rs886043794
|
|
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter)
|
rs1565686896
|
|
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg)
|
rs1085307657
|
|
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser)
|
rs2136579628
|
|
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter)
|
rs1940161368
|
|
NM_001844.5(COL2A1):c.1221+1G>A
|
rs1399741348
|
|
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp)
|
rs1555167449
|
|
NM_001844.5(COL2A1):c.1299_1302del (p.Phe433fs)
|
rs1555167439
|
|
NM_001844.5(COL2A1):c.1330G>A (p.Gly444Ser)
|
rs1064796332
|
|
NM_001844.5(COL2A1):c.1331_1340del (p.Gly444fs)
|
rs2136575705
|
|
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp)
|
rs794727339
|
|
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter)
|
rs1555167368
|
|
NM_001844.5(COL2A1):c.1399C>T (p.Gln467Ter)
|
rs1565683713
|
|
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)
|
rs121912880
|
|
NM_001844.5(COL2A1):c.1518del (p.Gly507fs)
|
rs2136570799
|
|
NM_001844.5(COL2A1):c.1525_1527delinsTGTGACC (p.Arg509fs)
|
rs1592218614
|
|
NM_001844.5(COL2A1):c.1527+135G>A
|
rs1592218346
|
|
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)
|
rs886041895
|
|
NM_001844.5(COL2A1):c.1556del (p.Gly519fs)
|
rs1555167140
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
rs1246771678
|
|
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.1680+1G>C
|
rs1057524696
|
|
NM_001844.5(COL2A1):c.1681-1dup
|
rs1555167067
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.1742del (p.Pro581fs)
|
rs2136564400
|
|
NM_001844.5(COL2A1):c.1744G>A (p.Gly582Ser)
|
|
|
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg)
|
rs886041945
|
|
NM_001844.5(COL2A1):c.1833+1G>A
|
rs1939312423
|
|
NM_001844.5(COL2A1):c.1925G>T (p.Gly642Val)
|
rs1057524602
|
|
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)
|
rs121912897
|
|
NM_001844.5(COL2A1):c.1934G>A (p.Gly645Asp)
|
rs1592214400
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys)
|
rs1269619781
|
|
NM_001844.5(COL2A1):c.1996-1G>A
|
rs886041935
|
|
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg)
|
rs2136555177
|
|
NM_001844.5(COL2A1):c.1A>G (p.Met1Val)
|
rs2136652928
|
|
NM_001844.5(COL2A1):c.2014G>T (p.Gly672Cys)
|
rs2136555019
|
|
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)
|
rs1555166555
|
|
NM_001844.5(COL2A1):c.2131G>C (p.Gly711Arg)
|
|
|
NM_001844.5(COL2A1):c.2132G>A (p.Gly711Asp)
|
rs2136551433
|
|
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp)
|
rs1555166457
|
|
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val)
|
rs1367822001
|
|
NM_001844.5(COL2A1):c.2288_2290delinsTCT (p.Pro763_Lys764delinsLeuTer)
|
rs2136548888
|
|
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser)
|
rs2136546628
|
|
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)
|
rs886043410
|
|
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)
|
rs1555166218
|
|
NM_001844.5(COL2A1):c.2490dup (p.Gly831fs)
|
rs1273496827
|
|
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg)
|
rs1064796660
|
|
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg)
|
rs886042043
|
|
NM_001844.5(COL2A1):c.2566C>T (p.Gln856Ter)
|
rs1565674604
|
|
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)
|
rs794727261
|
|
NM_001844.5(COL2A1):c.25_26delinsTA (p.Thr9Ter)
|
rs1131691546
|
|
NM_001844.5(COL2A1):c.2609G>T (p.Gly870Val)
|
rs886041429
|
|
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.261dup (p.Ile88fs)
|
rs1592238899
|
|
NM_001844.5(COL2A1):c.2678del (p.Pro893fs)
|
rs1938958532
|
|
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
NM_001844.5(COL2A1):c.2759dup (p.Gly921fs)
|
|
|
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)
|
rs121912866
|
|
NM_001844.5(COL2A1):c.2813del (p.Pro938fs)
|
rs886039543
|
|
NM_001844.5(COL2A1):c.2814del (p.Gly939fs)
|
rs1555165494
|
|
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)
|
rs1057524114
|
|
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp)
|
rs886041914
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser)
|
rs1215825701
|
|
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter)
|
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
NM_001844.5(COL2A1):c.3004-1G>A
|
rs2136525334
|
|
NM_001844.5(COL2A1):c.3047_3056dup (p.Gly1020fs)
|
rs2136525064
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)
|
rs2136522964
|
|
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)
|
rs121912873
|
|
NM_001844.5(COL2A1):c.3156dup (p.Gly1053fs)
|
rs1057518157
|
|
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu)
|
rs1555165195
|
|
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter)
|
rs2136520087
|
|
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter)
|
rs2136518839
|
|
NM_001844.5(COL2A1):c.3356del (p.Gly1119fs)
|
rs1555165110
|
|
NM_001844.5(COL2A1):c.3381_3382del (p.Gly1128fs)
|
rs1592199296
|
|
NM_001844.5(COL2A1):c.3401G>A (p.Gly1134Asp)
|
|
|
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser)
|
rs2136518157
|
|
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.3597+1G>A
|
rs1555164874
|
|
NM_001844.5(COL2A1):c.3624del (p.Gly1209fs)
|
rs1555164789
|
|
NM_001844.5(COL2A1):c.3627_3644del (p.1205PGP[2])
|
rs2136512373
|
|
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
|
rs2136508909
|
|
NM_001844.5(COL2A1):c.4008G>A (p.Trp1336Ter)
|
rs1565666048
|
|
NM_001844.5(COL2A1):c.4011G>A (p.Trp1337Ter)
|
|
|
NM_001844.5(COL2A1):c.402dup (p.Gly135fs)
|
rs2136627628
|
|
NM_001844.5(COL2A1):c.4068dup (p.Phe1357fs)
|
rs2136508009
|
|
NM_001844.5(COL2A1):c.406del (p.Asp136fs)
|
|
|
NM_001844.5(COL2A1):c.4074+1G>A
|
rs2136507956
|
|
NM_001844.5(COL2A1):c.4074+2T>G
|
|
|
NM_001844.5(COL2A1):c.485del (p.Gly162fs)
|
rs2136626297
|
|
NM_001844.5(COL2A1):c.504_505delinsA (p.Pro170fs)
|
rs1592235212
|
|
NM_001844.5(COL2A1):c.519del (p.Gly174fs)
|
rs1592235124
|
|
NM_001844.5(COL2A1):c.531+1G>A
|
|
|
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter)
|
rs886041843
|
|
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)
|
rs121912869
|
|
NM_001844.5(COL2A1):c.654+1G>A
|
rs2136618972
|
|
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)
|
rs1131691822
|
|
NM_001844.5(COL2A1):c.709-1G>A
|
rs2136616554
|
|
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp)
|
rs1592232040
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001844.5(COL2A1):c.85+1G>T
|
rs727503882
|
|
NM_001844.5(COL2A1):c.870+1G>A
|
rs2136610457
|
|
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)
|
rs1555168505
|
|