|
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)
|
rs775754967
|
0.00006
|
|
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.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
|
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser)
|
rs907944585
|
0.00001
|
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
|
NM_001844.5(COL2A1):c.2756C>T (p.Pro919Leu)
|
rs768207318
|
0.00001
|
|
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_001844.4(COL2A1):c.971delG
|
rs1555168309
|
|
|
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
|
|
|
|
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.101G>A (p.Cys34Tyr)
|
|
|
|
NM_001844.5(COL2A1):c.1023+3_1023+6del
|
|
|
|
NM_001844.5(COL2A1):c.1025G>T (p.Gly342Val)
|
|
|
|
NM_001844.5(COL2A1):c.1034G>T (p.Gly345Val)
|
|
|
|
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys)
|
rs2136590405
|
|
|
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp)
|
rs2136590361
|
|
|
NM_001844.5(COL2A1):c.1043dup (p.Gln349fs)
|
|
|
|
NM_001844.5(COL2A1):c.104_105dup (p.Gln36fs)
|
|
|
|
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)
|
rs1939615464
|
|
|
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs)
|
rs2136590109
|
|
|
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)
|
rs121912871
|
|
|
NM_001844.5(COL2A1):c.1060G>C (p.Gly354Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1061G>T (p.Gly354Val)
|
rs1555167847
|
|
|
NM_001844.5(COL2A1):c.1064del (p.Pro355fs)
|
|
|
|
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser)
|
|
|
|
NM_001844.5(COL2A1):c.1079G>C (p.Gly360Ala)
|
|
|
|
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del)
|
rs2136587632
|
|
|
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys)
|
rs2136587685
|
|
|
NM_001844.5(COL2A1):c.1098_1115del (p.Phe367_Gly372del)
|
|
|
|
NM_001844.5(COL2A1):c.1106G>A (p.Gly369Asp)
|
|
|
|
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)
|
rs794727202
|
|
|
NM_001844.5(COL2A1):c.1119_1122+16delinsACCCTGTTGC
|
rs1555167770
|
|
|
NM_001844.5(COL2A1):c.1122+1G>C
|
rs1565686170
|
|
|
NM_001844.5(COL2A1):c.1122+2T>A
|
rs1939584878
|
|
|
NM_001844.5(COL2A1):c.1122+2T>C
|
rs1939584878
|
|
|
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.1148_1165dup (p.Arg383_Ala388dup)
|
rs2136579443
|
|
|
NM_001844.5(COL2A1):c.1169G>T (p.Gly390Val)
|
rs2136579397
|
|
|
NM_001844.5(COL2A1):c.1187G>A (p.Gly396Asp)
|
rs1592221192
|
|
|
NM_001844.5(COL2A1):c.1204G>A (p.Gly402Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1204G>T (p.Gly402Trp)
|
rs2136579085
|
|
|
NM_001844.5(COL2A1):c.1205G>T (p.Gly402Val)
|
|
|
|
NM_001844.5(COL2A1):c.1221+1G>A
|
rs1399741348
|
|
|
NM_001844.5(COL2A1):c.1221+3A>C
|
|
|
|
NM_001844.5(COL2A1):c.1223G>A (p.Gly408Asp)
|
|
|
|
NM_001844.5(COL2A1):c.1231G>A (p.Gly411Arg)
|
rs2136577175
|
|
|
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)
|
rs2136577158
|
|
|
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1250G>A (p.Gly417Glu)
|
|
|
|
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg)
|
rs867799325
|
|
|
NM_001844.5(COL2A1):c.1266+5G>A
|
rs1064794958
|
|
|
NM_001844.5(COL2A1):c.1266+5G>C
|
rs1064794958
|
|
|
NM_001844.5(COL2A1):c.1267-2A>G
|
rs2136576254
|
|
|
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
|
|
|
|
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp)
|
rs1555167449
|
|
|
NM_001844.5(COL2A1):c.1286G>A (p.Gly429Asp)
|
|
|
|
NM_001844.5(COL2A1):c.1309C>T (p.Arg437Trp)
|
rs917659377
|
|
|
NM_001844.5(COL2A1):c.1312G>A (p.Gly438Ser)
|
|
|
|
NM_001844.5(COL2A1):c.1312G>T (p.Gly438Cys)
|
rs2136575877
|
|
|
NM_001844.5(COL2A1):c.1321G>A (p.Gly441Ser)
|
|
|
|
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp)
|
rs1939463507
|
|
|
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)
|
rs1939463507
|
|
|
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp)
|
rs886043561
|
|
|
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp)
|
rs794727339
|
|
|
NM_001844.5(COL2A1):c.1365+3A>C
|
|
|
|
NM_001844.5(COL2A1):c.1366-1G>C
|
|
|
|
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val)
|
rs1555167372
|
|
|
NM_001844.5(COL2A1):c.1376G>C (p.Gly459Ala)
|
|
|
|
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser)
|
rs1939445848
|
|
|
NM_001844.5(COL2A1):c.1394G>T (p.Gly465Val)
|
|
|
|
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg)
|
rs1064793352
|
|
|
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser)
|
rs2136571594
|
|
|
NM_001844.5(COL2A1):c.1429G>C (p.Gly477Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter)
|
rs2136571484
|
|
|
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.1484G>A (p.Gly495Glu)
|
rs2136571080
|
|
|
NM_001844.5(COL2A1):c.1501G>A (p.Gly501Arg)
|
rs866502805
|
|
|
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)
|
|
|
|
NM_001844.5(COL2A1):c.1502G>T (p.Gly501Val)
|
|
|
|
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)
|
rs865903887
|
|
|
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)
|
rs868417981
|
|
|
NM_001844.5(COL2A1):c.1520G>C (p.Gly507Ala)
|
|
|
|
NM_001844.5(COL2A1):c.1524_1527del (p.Arg509fs)
|
|
|
|
NM_001844.5(COL2A1):c.1527+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.1527+1G>C
|
|
|
|
NM_001844.5(COL2A1):c.1527+2T>A
|
|
|
|
NM_001844.5(COL2A1):c.1527+4A>C
|
rs2136570708
|
|
|
NM_001844.5(COL2A1):c.1528-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.1528G>C (p.Gly510Arg)
|
rs1555167157
|
|
|
NM_001844.5(COL2A1):c.1529G>T (p.Gly510Val)
|
|
|
|
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)
|
rs886041895
|
|
|
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser)
|
|
|
|
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp)
|
rs1555167139
|
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
rs1246771678
|
|
|
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)
|
rs2136568585
|
|
|
NM_001844.5(COL2A1):c.1581+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser)
|
rs2136567996
|
|
|
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)
|
rs886044555
|
|
|
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)
|
rs2136567807
|
|
|
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del)
|
rs2136567630
|
|
|
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu)
|
rs2136567637
|
|
|
NM_001844.5(COL2A1):c.1680+2T>G
|
rs1565681966
|
|
|
NM_001844.5(COL2A1):c.1680+2dup
|
rs2136567546
|
|
|
NM_001844.5(COL2A1):c.1681-2A>G
|
rs2136566722
|
|
|
NM_001844.5(COL2A1):c.1681-2_1681-1del
|
rs1592217071
|
|
|
NM_001844.5(COL2A1):c.1682G>T (p.Gly561Val)
|
rs1939349946
|
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
|
NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg)
|
rs1064797167
|
|
|
NM_001844.5(COL2A1):c.1709dup (p.Pro571fs)
|
rs1555167058
|
|
|
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser)
|
rs886042741
|
|
|
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg)
|
rs886042741
|
|
|
NM_001844.5(COL2A1):c.1726G>A (p.Gly576Ser)
|
rs2136566494
|
|
|
NM_001844.5(COL2A1):c.1734+3A>C
|
rs1057521852
|
|
|
NM_001844.5(COL2A1):c.1735-2A>C
|
|
|
|
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp)
|
|
|
|
NM_001844.5(COL2A1):c.1762G>C (p.Gly588Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1763G>A (p.Gly588Glu)
|
|
|
|
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg)
|
rs886043712
|
|
|
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.1790G>A (p.Gly597Glu)
|
|
|
|
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val)
|
rs794727438
|
|
|
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.1834-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.1834-2A>G
|
|
|
|
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>A (p.Gly621Glu)
|
rs1939281881
|
|
|
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.1888G>A (p.Gly630Ser)
|
rs1326550771
|
|
|
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser)
|
rs1555166826
|
|
|
NM_001844.5(COL2A1):c.1907G>A (p.Gly636Asp)
|
rs2136559202
|
|
|
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)
|
rs1057518908
|
|
|
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg)
|
rs794727472
|
|
|
NM_001844.5(COL2A1):c.1934G>C (p.Gly645Ala)
|
rs1592214400
|
|
|
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs)
|
rs2136558900
|
|
|
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn)
|
rs1940156255
|
|
|
NM_001844.5(COL2A1):c.1941+1G>A
|
rs1555166808
|
|
|
NM_001844.5(COL2A1):c.1942-2A>G
|
rs2136556938
|
|
|
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)
|
rs1447463543
|
|
|
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)
|
rs2136556852
|
|
|
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)
|
|
|
|
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)
|
rs1269619781
|
|
|
NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val)
|
|
|
|
NM_001844.5(COL2A1):c.1987G>A (p.Gly663Arg)
|
|
|
|
NM_001844.5(COL2A1):c.1988G>C (p.Gly663Ala)
|
|
|
|
NM_001844.5(COL2A1):c.1995+1G>T
|
rs2136556600
|
|
|
NM_001844.5(COL2A1):c.1996-9G>A
|
rs2136555221
|
|
|
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.2049+1G>A
|
rs1555166658
|
|
|
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser)
|
rs1231988113
|
|
|
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.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
|
NM_001844.5(COL2A1):c.2069G>A (p.Gly690Glu)
|
|
|
|
NM_001844.5(COL2A1):c.2078G>A (p.Gly693Asp)
|
rs2136552735
|
|
|
NM_001844.5(COL2A1):c.2087G>A (p.Gly696Asp)
|
|
|
|
NM_001844.5(COL2A1):c.2095-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.2103_2108dup (p.Gly702_Phe703insLeuGly)
|
|
|
|
NM_001844.5(COL2A1):c.2104G>A (p.Gly702Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)
|
rs2136551606
|
|
|
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2140G>C (p.Gly714Arg)
|
|
|
|
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)
|
rs1555166537
|
|
|
NM_001844.5(COL2A1):c.2141G>T (p.Gly714Val)
|
rs1555166537
|
|
|
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)
|
rs1555166528
|
|
|
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)
|
rs1939173389
|
|
|
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
|
|
|
|
NM_001844.5(COL2A1):c.2177G>A (p.Gly726Asp)
|
|
|
|
NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2193_2193+1inv
|
|
|
|
NM_001844.5(COL2A1):c.2194-2A>G
|
|
|
|
NM_001844.5(COL2A1):c.2222G>A (p.Gly741Glu)
|
|
|
|
NM_001844.5(COL2A1):c.2239G>A (p.Gly747Ser)
|
|
|
|
NM_001844.5(COL2A1):c.224G>T (p.Cys75Phe)
|
rs2136637051
|
|
|
NM_001844.5(COL2A1):c.2257G>A (p.Gly753Ser)
|
rs2136549071
|
|
|
NM_001844.5(COL2A1):c.2267G>T (p.Gly756Val)
|
|
|
|
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val)
|
rs2136548974
|
|
|
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp)
|
rs2136546742
|
|
|
NM_001844.5(COL2A1):c.2355+2del
|
rs1555166295
|
|
|
NM_001844.5(COL2A1):c.2355+5G>A
|
rs1555166294
|
|
|
NM_001844.5(COL2A1):c.2356-16_2359del
|
rs1939108031
|
|
|
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)
|
rs2136544726
|
|
|
NM_001844.5(COL2A1):c.2392G>A (p.Gly798Ser)
|
rs2136544686
|
|
|
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2407_2409del (p.Lys803del)
|
rs1057518139
|
|
|
NM_001844.5(COL2A1):c.2409+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.2410-1G>A
|
rs2136542198
|
|
|
NM_001844.5(COL2A1):c.2419G>A (p.Gly807Arg)
|
rs2136542141
|
|
|
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.2463+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.2464-1G>T
|
|
|
|
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
|
rs2136539942
|
|
|
NM_001844.5(COL2A1):c.2464G>T (p.Gly822Cys)
|
|
|
|
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala)
|
rs2136539832
|
|
|
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg)
|
rs886044702
|
|
|
NM_001844.5(COL2A1):c.2490del (p.Gly831fs)
|
rs1273496827
|
|
|
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg)
|
rs1064796660
|
|
|
NM_001844.5(COL2A1):c.2500_2501delinsAA (p.Gly834Lys)
|
|
|
|
NM_001844.5(COL2A1):c.2501G>A (p.Gly834Glu)
|
|
|
|
NM_001844.5(COL2A1):c.2509G>A (p.Gly837Arg)
|
|
|
|
NM_001844.5(COL2A1):c.2509G>C (p.Gly837Arg)
|
rs1939031863
|
|
|
NM_001844.5(COL2A1):c.2517+2T>C
|
|
|
|
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)
|
rs2136538046
|
|
|
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg)
|
rs886042043
|
|
|
NM_001844.5(COL2A1):c.2545G>A (p.Gly849Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2545G>T (p.Gly849Cys)
|
|
|
|
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala)
|
rs1939004215
|
|
|
NM_001844.5(COL2A1):c.2563G>A (p.Gly855Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2563G>C (p.Gly855Arg)
|
rs1193507525
|
|
|
NM_001844.5(COL2A1):c.2564G>C (p.Gly855Ala)
|
rs2136537795
|
|
|
NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser)
|
rs2136537746
|
|
|
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)
|
|
|
|
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
|
rs2136537559
|
|
|
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)
|
rs1592206729
|
|
|
NM_001844.5(COL2A1):c.2599G>A (p.Gly867Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)
|
|
|
|
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)
|
rs886042849
|
|
|
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)
|
rs886041429
|
|
|
NM_001844.5(COL2A1):c.2625+1del
|
rs2136537220
|
|
|
NM_001844.5(COL2A1):c.2625+2T>C
|
|
|
|
NM_001844.5(COL2A1):c.2627G>A (p.Gly876Asp)
|
rs2136535158
|
|
|
NM_001844.5(COL2A1):c.2644G>C (p.Gly882Arg)
|
|
|
|
NM_001844.5(COL2A1):c.2645G>T (p.Gly882Val)
|
|
|
|
NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala)
|
|
|
|
NM_001844.5(COL2A1):c.2679+1G>T
|
|
|
|
NM_001844.5(COL2A1):c.2680-1G>A
|
rs2136532474
|
|
|
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)
|
rs1281743095
|
|
|
NM_001844.5(COL2A1):c.2707G>A (p.Gly903Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2717G>C (p.Gly906Ala)
|
|
|
|
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2734G>A (p.Gly912Ser)
|
|
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])
|
rs2136528419
|
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[3] (p.Pro922_Ser923insProGlyPro)
|
rs2136528419
|
|
|
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg)
|
rs1565672299
|
|
|
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.2763_2771del (p.Pro922_Gly924del)
|
rs1938871701
|
|
|
NM_001844.5(COL2A1):c.2771G>A (p.Gly924Glu)
|
|
|
|
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)
|
rs886043540
|
|
|
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg)
|
rs886043540
|
|
|
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp)
|
rs1555165501
|
|
|
NM_001844.5(COL2A1):c.2789G>C (p.Gly930Ala)
|
rs1555165501
|
|
|
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.2825G>A (p.Gly942Asp)
|
rs886041914
|
|
|
NM_001844.5(COL2A1):c.2833G>C (p.Gly945Arg)
|
|
|
|
NM_001844.5(COL2A1):c.2852G>A (p.Gly951Glu)
|
|
|
|
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser)
|
rs1938864270
|
|
|
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.2895+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)
|
rs2136526614
|
|
|
NM_001844.5(COL2A1):c.292+2T>A
|
|
|
|
NM_001844.5(COL2A1):c.2924del (p.Gly975fs)
|
|
|
|
NM_001844.5(COL2A1):c.293-2A>T
|
|
|
|
NM_001844.5(COL2A1):c.2950G>A (p.Gly984Ser)
|
rs2136526413
|
|
|
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg)
|
rs2136526413
|
|
|
NM_001844.5(COL2A1):c.2951G>A (p.Gly984Asp)
|
|
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
|
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys)
|
rs2136526244
|
|
|
NM_001844.5(COL2A1):c.3004-1G>A
|
rs2136525334
|
|
|
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)
|
rs753342774
|
|
|
NM_001844.5(COL2A1):c.3014G>A (p.Gly1005Asp)
|
|
|
|
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys)
|
rs2136525233
|
|
|
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp)
|
rs2136525107
|
|
|
NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4])
|
rs1555165335
|
|
|
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)
|
rs1555165335
|
|
|
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala)
|
rs1555165336
|
|
|
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)
|
|
|
|
NM_001844.5(COL2A1):c.309+1G>A
|
|
|
|
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.3113G>A (p.Gly1038Glu)
|
rs2136523042
|
|
|
NM_001844.5(COL2A1):c.3130G>A (p.Gly1044Ser)
|
rs2136522924
|
|
|
NM_001844.5(COL2A1):c.3131G>C (p.Gly1044Ala)
|
|
|
|
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)
|
rs751205887
|
|
|
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)
|
rs1555165245
|
|
|
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.3157G>A (p.Gly1053Arg)
|
rs1555165237
|
|
|
NM_001844.5(COL2A1):c.3158G>C (p.Gly1053Ala)
|
|
|
|
NM_001844.5(COL2A1):c.3158G>T (p.Gly1053Val)
|
|
|
|
NM_001844.5(COL2A1):c.3165+2_3166-84del
|
rs1938789358
|
|
|
NM_001844.5(COL2A1):c.3166-2_3166-1del
|
rs2136521786
|
|
|
NM_001844.5(COL2A1):c.3176G>C (p.Gly1059Ala)
|
|
|
|
NM_001844.5(COL2A1):c.3194G>A (p.Gly1065Glu)
|
|
|
|
NM_001844.5(COL2A1):c.3212G>A (p.Gly1071Glu)
|
rs2136521542
|
|
|
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val)
|
rs786205477
|
|
|
NM_001844.5(COL2A1):c.3238G>A (p.Gly1080Ser)
|
|
|
|
NM_001844.5(COL2A1):c.3238G>C (p.Gly1080Arg)
|
|
|
|
NM_001844.5(COL2A1):c.3256G>A (p.Gly1086Arg)
|
|
|
|
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.3264_3265del (p.Gly1089fs)
|
|
|
|
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.3287_3297del (p.Pro1096fs)
|
|
|
|
NM_001844.5(COL2A1):c.3293G>A (p.Gly1098Glu)
|
|
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
|
NM_001844.5(COL2A1):c.3319G>A (p.Gly1107Arg)
|
rs2136519756
|
|
|
NM_001844.5(COL2A1):c.3320G>A (p.Gly1107Glu)
|
|
|
|
NM_001844.5(COL2A1):c.3327+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.3328-2A>G
|
rs1938737244
|
|
|
NM_001844.5(COL2A1):c.3328G>A (p.Gly1110Ser)
|
|
|
|
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+4_3435+7del
|
|
|
|
NM_001844.5(COL2A1):c.3435+5G>C
|
|
|
|
NM_001844.5(COL2A1):c.3436-1G>A
|
rs2136516942
|
|
|
NM_001844.5(COL2A1):c.3436-2A>G
|
rs1592198803
|
|
|
NM_001844.5(COL2A1):c.3436G>A (p.Gly1146Ser)
|
rs2136516927
|
|
|
NM_001844.5(COL2A1):c.3436G>T (p.Gly1146Cys)
|
rs2136516927
|
|
|
NM_001844.5(COL2A1):c.3437G>A (p.Gly1146Asp)
|
rs1938719104
|
|
|
NM_001844.5(COL2A1):c.3437G>C (p.Gly1146Ala)
|
|
|
|
NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del)
|
rs1938718648
|
|
|
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu)
|
rs1938718512
|
|
|
NM_001844.5(COL2A1):c.3454G>A (p.Gly1152Ser)
|
|
|
|
NM_001844.5(COL2A1):c.3455G>T (p.Gly1152Val)
|
|
|
|
NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser)
|
|
|
|
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp)
|
rs1938716355
|
|
|
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)
|
rs1057518911
|
|
|
NM_001844.5(COL2A1):c.3488_3489+2del
|
|
|
|
NM_001844.5(COL2A1):c.3490-1G>C
|
|
|
|
NM_001844.5(COL2A1):c.3490-2A>G
|
rs2136514651
|
|
|
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp)
|
rs1476546104
|
|
|
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg)
|
rs121912891
|
|
|
NM_001844.5(COL2A1):c.3509G>C (p.Gly1170Ala)
|
|
|
|
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp)
|
rs1592197752
|
|
|
NM_001844.5(COL2A1):c.3536G>A (p.Gly1179Glu)
|
|
|
|
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala)
|
rs1592197682
|
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
|
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala)
|
rs1938686073
|
|
|
NM_001844.5(COL2A1):c.3598-1G>A
|
rs1592196867
|
|
|
NM_001844.5(COL2A1):c.3598-2A>G
|
rs2136512643
|
|
|
NM_001844.5(COL2A1):c.3606_3632del (p.Asn1204_Gly1212del)
|
rs2136512470
|
|
|
NM_001844.5(COL2A1):c.3626G>T (p.Gly1209Val)
|
rs1131692022
|
|
|
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)
|
rs760093841
|
|
|
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr)
|
rs760093841
|
|
|
NM_001844.5(COL2A1):c.3679_3680insAA (p.Gly1227fs)
|
|
|
|
NM_001844.5(COL2A1):c.3706del (p.Leu1236fs)
|
rs2136511970
|
|
|
NM_001844.5(COL2A1):c.375+2T>A
|
|
|
|
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs)
|
rs2136511549
|
|
|
NM_001844.5(COL2A1):c.376-1G>A
|
rs1940039533
|
|
|
NM_001844.5(COL2A1):c.376-1G>C
|
rs1940039533
|
|
|
NM_001844.5(COL2A1):c.376-2A>G
|
|
|
|
NM_001844.5(COL2A1):c.3887-2A>G
|
rs2136508967
|
|
|
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)
|
|
|
|
NM_001844.5(COL2A1):c.3897G>C (p.Trp1299Cys)
|
|
|
|
NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys)
|
rs2136508895
|
|
|
NM_001844.5(COL2A1):c.3913G>A (p.Gly1305Ser)
|
|
|
|
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala)
|
rs121912887
|
|
|
NM_001844.5(COL2A1):c.3925G>A (p.Asp1309Asn)
|
|
|
|
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn)
|
rs745788222
|
|
|
NM_001844.5(COL2A1):c.3971T>G (p.Val1324Gly)
|
rs1938610955
|
|
|
NM_001844.5(COL2A1):c.4075-1G>C
|
rs2136506437
|
|
|
NM_001844.5(COL2A1):c.4075-1G>T
|
rs2136506437
|
|
|
NM_001844.5(COL2A1):c.4075-2A>C
|
|
|
|
NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)
|
rs2136505985
|
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
|
NM_001844.5(COL2A1):c.4166_4168del (p.Ile1389del)
|
rs1064796170
|
|
|
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)
|
rs121912889
|
|
|
NM_001844.5(COL2A1):c.4229C>A (p.Ala1410Asp)
|
rs2136505279
|
|
|
NM_001844.5(COL2A1):c.429+1G>C
|
|
|
|
NM_001844.5(COL2A1):c.429+2T>G
|
|
|
|
NM_001844.5(COL2A1):c.430-1G>A
|
rs2136626600
|
|
|
NM_001844.5(COL2A1):c.430-23_441del
|
rs1940028187
|
|
|
NM_001844.5(COL2A1):c.430-2A>T
|
|
|
|
NM_001844.5(COL2A1):c.430-7T>A
|
rs2136626631
|
|
|
NM_001844.5(COL2A1):c.4317+1G>A
|
rs2136504667
|
|
|
NM_001844.5(COL2A1):c.4321del (p.His1441fs)
|
|
|
|
NM_001844.5(COL2A1):c.4326_4330delinsTGTTTCT (p.Gly1443fs)
|
rs2136502573
|
|
|
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)
|
|
|
|
NM_001844.5(COL2A1):c.4363C>T (p.Gln1455Ter)
|
rs1555164217
|
|
|
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)
|
rs527236145
|
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
|
NM_001844.5(COL2A1):c.4455CTT[1] (p.Phe1486del)
|
|
|
|
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)
|
rs1592235241
|
|
|
NM_001844.5(COL2A1):c.519del (p.Gly174fs)
|
rs1592235124
|
|
|
NM_001844.5(COL2A1):c.542C>T (p.Ala181Val)
|
rs2136622365
|
|
|
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
|
|
|
|
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu)
|
|
|
|
NM_001844.5(COL2A1):c.604_609+2del
|
rs2136621947
|
|
|
NM_001844.5(COL2A1):c.609+4del
|
rs1555168965
|
|
|
NM_001844.5(COL2A1):c.610-17_617del
|
rs2136619163
|
|
|
NM_001844.5(COL2A1):c.610-2A>G
|
|
|
|
NM_001844.5(COL2A1):c.610-2A>T
|
|
|
|
NM_001844.5(COL2A1):c.610G>C (p.Gly204Arg)
|
rs2136619174
|
|
|
NM_001844.5(COL2A1):c.611G>A (p.Gly204Asp)
|
|
|
|
NM_001844.5(COL2A1):c.620G>T (p.Gly207Val)
|
rs2136619125
|
|
|
NM_001844.5(COL2A1):c.628G>A (p.Gly210Arg)
|
|
|
|
NM_001844.5(COL2A1):c.638G>A (p.Gly213Asp)
|
|
|
|
NM_001844.5(COL2A1):c.646G>T (p.Gly216Cys)
|
|
|
|
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp)
|
rs1064794264
|
|
|
NM_001844.5(COL2A1):c.654+4dup
|
rs2136618963
|
|
|
NM_001844.5(COL2A1):c.655-1G>C
|
rs1555168840
|
|
|
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.692G>A (p.Gly231Asp)
|
|
|
|
NM_001844.5(COL2A1):c.701G>A (p.Gly234Asp)
|
|
|
|
NM_001844.5(COL2A1):c.701G>T (p.Gly234Val)
|
|
|
|
NM_001844.5(COL2A1):c.708+2_708+3del
|
rs2136618158
|
|
|
NM_001844.5(COL2A1):c.709G>C (p.Gly237Arg)
|
|
|
|
NM_001844.5(COL2A1):c.728G>A (p.Gly243Asp)
|
|
|
|
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.817-6T>G
|
rs1555168542
|
|
|
NM_001844.5(COL2A1):c.826G>T (p.Gly276Cys)
|
|
|
|
NM_001844.5(COL2A1):c.827G>A (p.Gly276Asp)
|
|
|
|
NM_001844.5(COL2A1):c.827G>T (p.Gly276Val)
|
|
|
|
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.870+2T>C
|
|
|
|
NM_001844.5(COL2A1):c.870+5G>A
|
rs794727095
|
|
|
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC
|
|
|
|
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC
|
|
|
|
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.905C>T (p.Ala302Val)
|
rs1555168505
|
|
|
NM_001844.5(COL2A1):c.908G>T (p.Gly303Val)
|
|
|
|
NM_001844.5(COL2A1):c.917_918delinsA (p.Gly306fs)
|
|
|
|
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.953G>T (p.Gly318Val)
|
rs2136607793
|
|
|
NM_001844.5(COL2A1):c.970-1G>A
|
|
|
|
NM_001844.5(COL2A1):c.970-2A>G
|
|
|
|
NM_001844.5(COL2A1):c.970-8T>G
|
rs1165582049
|
|
|
NM_001844.5(COL2A1):c.972T>C (p.Gly324=)
|
rs2136605039
|
|
|
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)
|
|
|