NM_001844.5(COL2A1):c.2966G>A (p.Arg989His)
|
rs756155678
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_001844.5(COL2A1):c.1015G>A (p.Gly339Ser)
|
rs2136604691
|
|
NM_001844.5(COL2A1):c.1016G>A (p.Gly339Asp)
|
rs2136604676
|
|
NM_001844.5(COL2A1):c.1023+3_1023+6del
|
|
|
NM_001844.5(COL2A1):c.1034G>T (p.Gly345Val)
|
|
|
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys)
|
rs2136590405
|
|
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser)
|
|
|
NM_001844.5(COL2A1):c.1106G>A (p.Gly369Asp)
|
|
|
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)
|
rs794727202
|
|
NM_001844.5(COL2A1):c.1122+2T>A
|
rs1939584878
|
|
NM_001844.5(COL2A1):c.1123-1G>C
|
rs1565684864
|
|
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser)
|
rs2136579628
|
|
NM_001844.5(COL2A1):c.1132G>C (p.Gly378Arg)
|
rs2136579628
|
|
NM_001844.5(COL2A1):c.1142G>C (p.Gly381Ala)
|
rs1323542030
|
|
NM_001844.5(COL2A1):c.1231G>A (p.Gly411Arg)
|
rs2136577175
|
|
NM_001844.5(COL2A1):c.1250G>A (p.Gly417Glu)
|
|
|
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg)
|
rs867799325
|
|
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp)
|
rs1555167449
|
|
NM_001844.5(COL2A1):c.1312G>T (p.Gly438Cys)
|
rs2136575877
|
|
NM_001844.5(COL2A1):c.1321G>A (p.Gly441Ser)
|
|
|
NM_001844.5(COL2A1):c.1365+1G>A
|
rs2136575516
|
|
NM_001844.5(COL2A1):c.1366-1G>C
|
|
|
NM_001844.5(COL2A1):c.1376G>C (p.Gly459Ala)
|
|
|
NM_001844.5(COL2A1):c.1394G>T (p.Gly465Val)
|
|
|
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu)
|
rs2136571455
|
|
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp)
|
rs1939412490
|
|
NM_001844.5(COL2A1):c.1467C>T (p.Gly489=)
|
rs2136571245
|
|
NM_001844.5(COL2A1):c.1475G>A (p.Gly492Asp)
|
|
|
NM_001844.5(COL2A1):c.1520G>C (p.Gly507Ala)
|
|
|
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)
|
rs886041895
|
|
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser)
|
|
|
NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser)
|
rs2136567996
|
|
NM_001844.5(COL2A1):c.1681-2A>G
|
rs2136566722
|
|
NM_001844.5(COL2A1):c.1699G>A (p.Gly567Ser)
|
rs2136566584
|
|
NM_001844.5(COL2A1):c.1726G>A (p.Gly576Ser)
|
rs2136566494
|
|
NM_001844.5(COL2A1):c.1735-2A>C
|
|
|
NM_001844.5(COL2A1):c.1763G>A (p.Gly588Glu)
|
|
|
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg)
|
rs2136564199
|
|
NM_001844.5(COL2A1):c.1789G>A (p.Gly597Arg)
|
rs2136564137
|
|
NM_001844.5(COL2A1):c.1824_1832del (p.Lys608_Ala610del)
|
rs2136563934
|
|
NM_001844.5(COL2A1):c.1826G>C (p.Gly609Ala)
|
|
|
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
|
rs140580674
|
|
NM_001844.5(COL2A1):c.1853G>A (p.Gly618Asp)
|
rs1480620991
|
|
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg)
|
rs794727462
|
|
NM_001844.5(COL2A1):c.1862G>T (p.Gly621Val)
|
rs1939281881
|
|
NM_001844.5(COL2A1):c.1870G>C (p.Gly624Arg)
|
|
|
NM_001844.5(COL2A1):c.1879G>A (p.Gly627Ser)
|
|
|
NM_001844.5(COL2A1):c.1880G>A (p.Gly627Asp)
|
rs1939280733
|
|
NM_001844.5(COL2A1):c.1887+1G>T
|
rs2136561510
|
|
NM_001844.5(COL2A1):c.1888-2A>G
|
|
|
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser)
|
rs1555166826
|
|
NM_001844.5(COL2A1):c.1942-2A>G
|
rs2136556938
|
|
NM_001844.5(COL2A1):c.1960G>A (p.Gly654Ser)
|
rs1322543333
|
|
NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val)
|
|
|
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg)
|
rs2136555177
|
|
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)
|
rs1939205327
|
|
NM_001844.5(COL2A1):c.2007_2015del (p.670PPG[1])
|
rs2136555011
|
|
NM_001844.5(COL2A1):c.2023G>C (p.Gly675Arg)
|
rs1423422339
|
|
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu)
|
rs2136554879
|
|
NM_001844.5(COL2A1):c.2042G>T (p.Gly681Val)
|
rs2136554860
|
|
NM_001844.5(COL2A1):c.2050G>C (p.Gly684Arg)
|
|
|
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2051G>T (p.Gly684Val)
|
rs2136552948
|
|
NM_001844.5(COL2A1):c.2078G>A (p.Gly693Asp)
|
rs2136552735
|
|
NM_001844.5(COL2A1):c.2103_2108dup (p.Gly702_Phe703insLeuGly)
|
|
|
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
|
|
|
NM_001844.5(COL2A1):c.2141G>T (p.Gly714Val)
|
rs1555166537
|
|
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
|
|
|
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)
|
rs1939173389
|
|
NM_001844.5(COL2A1):c.2177G>A (p.Gly726Asp)
|
|
|
NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser)
|
|
|
NM_001844.5(COL2A1):c.2194-2A>G
|
|
|
NM_001844.5(COL2A1):c.2222G>A (p.Gly741Glu)
|
|
|
NM_001844.5(COL2A1):c.2257G>A (p.Gly753Ser)
|
rs2136549071
|
|
NM_001844.5(COL2A1):c.2267G>T (p.Gly756Val)
|
|
|
NM_001844.5(COL2A1):c.2355+5G>A
|
rs1555166294
|
|
NM_001844.5(COL2A1):c.2356-16_2359del
|
rs1939108031
|
|
NM_001844.5(COL2A1):c.2356-1G>A
|
rs1341401004
|
|
NM_001844.5(COL2A1):c.2392G>A (p.Gly798Ser)
|
rs2136544686
|
|
NM_001844.5(COL2A1):c.2410-1G>A
|
rs2136542198
|
|
NM_001844.5(COL2A1):c.2428G>A (p.Gly810Ser)
|
|
|
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys)
|
rs794727596
|
|
NM_001844.5(COL2A1):c.2429G>C (p.Gly810Ala)
|
|
|
NM_001844.5(COL2A1):c.2455G>A (p.Gly819Ser)
|
rs2136541965
|
|
NM_001844.5(COL2A1):c.2464-1G>T
|
|
|
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala)
|
rs2136539832
|
|
NM_001844.5(COL2A1):c.2500_2501delinsAA (p.Gly834Lys)
|
|
|
NM_001844.5(COL2A1):c.2509G>C (p.Gly837Arg)
|
rs1939031863
|
|
NM_001844.5(COL2A1):c.2517+2T>C
|
|
|
NM_001844.5(COL2A1):c.2545G>T (p.Gly849Cys)
|
|
|
NM_001844.5(COL2A1):c.2563G>A (p.Gly855Ser)
|
|
|
NM_001844.5(COL2A1):c.2564G>C (p.Gly855Ala)
|
rs2136537795
|
|
NM_001844.5(COL2A1):c.2599G>A (p.Gly867Ser)
|
|
|
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)
|
|
|
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)
|
rs886041429
|
|
NM_001844.5(COL2A1):c.2627G>A (p.Gly876Asp)
|
rs2136535158
|
|
NM_001844.5(COL2A1):c.2644G>C (p.Gly882Arg)
|
|
|
NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala)
|
|
|
NM_001844.5(COL2A1):c.2707G>A (p.Gly903Ser)
|
|
|
NM_001844.5(COL2A1):c.2734G>A (p.Gly912Ser)
|
|
|
NM_001844.5(COL2A1):c.2752G>T (p.Gly918Cys)
|
rs1565672299
|
|
NM_001844.5(COL2A1):c.2762G>A (p.Gly921Asp)
|
rs2136528442
|
|
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)
|
rs886043540
|
|
NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu)
|
rs2136528309
|
|
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)
|
rs777615798
|
|
NM_001844.5(COL2A1):c.2833G>C (p.Gly945Arg)
|
|
|
NM_001844.5(COL2A1):c.2895+1G>A
|
|
|
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)
|
rs2136526614
|
|
NM_001844.5(COL2A1):c.2918_2926del (p.Pro973_Gly975del)
|
rs2136526580
|
|
NM_001844.5(COL2A1):c.310-1G>A
|
|
|
NM_001844.5(COL2A1):c.310-2A>G
|
|
|
NM_001844.5(COL2A1):c.3111+1G>T
|
|
|
NM_001844.5(COL2A1):c.3111+2T>A
|
|
|
NM_001844.5(COL2A1):c.3112-2A>G
|
|
|
NM_001844.5(COL2A1):c.3130G>A (p.Gly1044Ser)
|
rs2136522924
|
|
NM_001844.5(COL2A1):c.3131G>C (p.Gly1044Ala)
|
|
|
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)
|
rs1555165242
|
|
NM_001844.5(COL2A1):c.3149G>T (p.Gly1050Val)
|
rs1555165242
|
|
NM_001844.5(COL2A1):c.3166-2_3166-1del
|
rs2136521786
|
|
NM_001844.5(COL2A1):c.3194G>A (p.Gly1065Glu)
|
|
|
NM_001844.5(COL2A1):c.3212G>A (p.Gly1071Glu)
|
rs2136521542
|
|
NM_001844.5(COL2A1):c.3238G>A (p.Gly1080Ser)
|
|
|
NM_001844.5(COL2A1):c.3257G>A (p.Gly1086Glu)
|
rs2136521131
|
|
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del)
|
rs2136521036
|
|
NM_001844.5(COL2A1):c.3266G>A (p.Gly1089Glu)
|
rs2136521056
|
|
NM_001844.5(COL2A1):c.3274-2A>G
|
rs2136520141
|
|
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp)
|
rs794727684
|
|
NM_001844.5(COL2A1):c.3319G>A (p.Gly1107Arg)
|
rs2136519756
|
|
NM_001844.5(COL2A1):c.3327+1G>A
|
|
|
NM_001844.5(COL2A1):c.3328-2A>G
|
rs1938737244
|
|
NM_001844.5(COL2A1):c.3328G>C (p.Gly1110Arg)
|
rs1938737050
|
|
NM_001844.5(COL2A1):c.3329G>C (p.Gly1110Ala)
|
rs2136518845
|
|
NM_001844.5(COL2A1):c.3347G>A (p.Gly1116Asp)
|
|
|
NM_001844.5(COL2A1):c.3364G>A (p.Gly1122Arg)
|
|
|
NM_001844.5(COL2A1):c.3365G>A (p.Gly1122Glu)
|
rs1592199342
|
|
NM_001844.5(COL2A1):c.3373G>A (p.Gly1125Ser)
|
|
|
NM_001844.5(COL2A1):c.3400G>A (p.Gly1134Ser)
|
rs2136518300
|
|
NM_001844.5(COL2A1):c.342+2_342+7del
|
|
|
NM_001844.5(COL2A1):c.3435+5G>C
|
|
|
NM_001844.5(COL2A1):c.3436-1G>A
|
rs2136516942
|
|
NM_001844.5(COL2A1):c.3436G>A (p.Gly1146Ser)
|
rs2136516927
|
|
NM_001844.5(COL2A1):c.3490-2A>G
|
rs2136514651
|
|
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp)
|
rs1476546104
|
|
NM_001844.5(COL2A1):c.3509G>C (p.Gly1170Ala)
|
|
|
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp)
|
rs1592197752
|
|
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3598-1G>A
|
rs1592196867
|
|
NM_001844.5(COL2A1):c.3598-2A>G
|
rs2136512643
|
|
NM_001844.5(COL2A1):c.375+2T>A
|
|
|
NM_001844.5(COL2A1):c.376-1G>C
|
rs1940039533
|
|
NM_001844.5(COL2A1):c.3897G>C (p.Trp1299Cys)
|
|
|
NM_001844.5(COL2A1):c.3913G>A (p.Gly1305Ser)
|
|
|
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala)
|
rs121912887
|
|
NM_001844.5(COL2A1):c.3969C>G (p.Cys1323Trp)
|
|
|
NM_001844.5(COL2A1):c.4075-1G>T
|
rs2136506437
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)
|
rs121912889
|
|
NM_001844.5(COL2A1):c.429+1G>C
|
|
|
NM_001844.5(COL2A1):c.430-1G>A
|
rs2136626600
|
|
NM_001844.5(COL2A1):c.430-2A>T
|
|
|
NM_001844.5(COL2A1):c.430-7T>A
|
rs2136626631
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
NM_001844.5(COL2A1):c.4455CTT[1] (p.Phe1486del)
|
|
|
NM_001844.5(COL2A1):c.542C>T (p.Ala181Val)
|
rs2136622365
|
|
NM_001844.5(COL2A1):c.610G>C (p.Gly204Arg)
|
rs2136619174
|
|
NM_001844.5(COL2A1):c.611G>A (p.Gly204Asp)
|
|
|
NM_001844.5(COL2A1):c.628G>A (p.Gly210Arg)
|
|
|
NM_001844.5(COL2A1):c.646G>T (p.Gly216Cys)
|
|
|
NM_001844.5(COL2A1):c.655-2A>C
|
rs2136618395
|
|
NM_001844.5(COL2A1):c.683G>A (p.Gly228Asp)
|
rs2136618285
|
|
NM_001844.5(COL2A1):c.686AACCTGGTG[1] (p.229EPG[1])
|
|
|
NM_001844.5(COL2A1):c.701G>A (p.Gly234Asp)
|
|
|
NM_001844.5(COL2A1):c.708+2_708+3del
|
rs2136618158
|
|
NM_001844.5(COL2A1):c.728G>T (p.Gly243Val)
|
rs2136616399
|
|
NM_001844.5(COL2A1):c.733_753del (p.Pro245_Pro251del)
|
rs2136616143
|
|
NM_001844.5(COL2A1):c.762+5G>A
|
|
|
NM_001844.5(COL2A1):c.763G>A (p.Gly255Ser)
|
rs2136612683
|
|
NM_001844.5(COL2A1):c.817-1G>C
|
|
|
NM_001844.5(COL2A1):c.817-2A>C
|
rs2136610697
|
|
NM_001844.5(COL2A1):c.827G>A (p.Gly276Asp)
|
|
|
NM_001844.5(COL2A1):c.835G>A (p.Gly279Arg)
|
|
|
NM_001844.5(COL2A1):c.86-1G>A
|
|
|
NM_001844.5(COL2A1):c.86-1G>C
|
|
|
NM_001844.5(COL2A1):c.863G>A (p.Gly288Asp)
|
|
|
NM_001844.5(COL2A1):c.871-2del
|
|
|
NM_001844.5(COL2A1):c.872G>T (p.Gly291Val)
|
|
|
NM_001844.5(COL2A1):c.881G>T (p.Gly294Val)
|
|
|
NM_001844.5(COL2A1):c.889G>A (p.Gly297Ser)
|
|
|
NM_001844.5(COL2A1):c.890G>A (p.Gly297Asp)
|
|
|
NM_001844.5(COL2A1):c.899G>A (p.Gly300Glu)
|
|
|
NM_001844.5(COL2A1):c.908G>T (p.Gly303Val)
|
|
|
NM_001844.5(COL2A1):c.924+2T>G
|
|
|
NM_001844.5(COL2A1):c.926G>A (p.Gly309Asp)
|
rs2136608011
|
|
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg)
|
rs121912894
|
|
NM_001844.5(COL2A1):c.970-1G>A
|
|
|
NM_001844.5(COL2A1):c.970-2A>G
|
|
|
NM_001844.5(COL2A1):c.988G>A (p.Gly330Ser)
|
rs2136604937
|
|
NM_001844.5(COL2A1):c.997G>A (p.Gly333Arg)
|
|
|
NM_001844.5(COL2A1):c.997G>C (p.Gly333Arg)
|
|
|