|
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)
|
rs775754967
|
0.00006
|
|
NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
|
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
|
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
|
|
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
|
NM_001844.4(COL2A1):c.971delG
|
rs1555168309
|
|
|
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs)
|
rs2136590109
|
|
|
NM_001844.5(COL2A1):c.1064del (p.Pro355fs)
|
|
|
|
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del)
|
rs2136587632
|
|
|
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)
|
rs2136571080
|
|
|
NM_001844.5(COL2A1):c.1527+1G>A
|
|
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
rs1246771678
|
|
|
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.1681-2_1681-1del
|
rs1592217071
|
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
|
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
|
rs140580674
|
|
|
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)
|
|
|
|
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)
|
rs1269619781
|
|
|
NM_001844.5(COL2A1):c.2049+1G>A
|
rs1555166658
|
|
|
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
|
|
|
|
NM_001844.5(COL2A1):c.2355+2del
|
rs1555166295
|
|
|
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)
|
rs2136544726
|
|
|
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
|
rs2136539942
|
|
|
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)
|
rs2136538046
|
|
|
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
|
rs2136537559
|
|
|
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)
|
rs1592206729
|
|
|
NM_001844.5(COL2A1):c.2625+1del
|
rs2136537220
|
|
|
NM_001844.5(COL2A1):c.2625+2T>C
|
|
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])
|
rs2136528419
|
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
|
NM_001844.5(COL2A1):c.293-2A>T
|
|
|
|
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)
|
rs753342774
|
|
|
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)
|
rs751205887
|
|
|
NM_001844.5(COL2A1):c.3165+2_3166-84del
|
rs1938789358
|
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
|
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs)
|
rs2136511549
|
|
|
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)
|
|
|
|
NM_001844.5(COL2A1):c.429+2T>G
|
|
|
|
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)
|
rs1592235241
|
|
|
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
|
|
|
|
NM_001844.5(COL2A1):c.609+4del
|
rs1555168965
|
|
|
NM_001844.5(COL2A1):c.610-17_617del
|
rs2136619163
|
|
|
NM_001844.5(COL2A1):c.610-2A>T
|
|
|
|
NM_001844.5(COL2A1):c.654+4dup
|
rs2136618963
|
|
|
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC
|
|
|
|
NM_001851.6(COL9A1):c.1450-1G>T
|
|
|
|
NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)
|
rs781682527
|
|
|
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser)
|
rs535212284
|
|
|
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)
|
rs1667208458
|
|
|
NM_001854.4(COL11A1):c.1630-2del
|
rs1057517989
|
|
|
NM_001854.4(COL11A1):c.1684-1G>C
|
rs1665610030
|
|
|
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del)
|
rs1557932876
|
|
|
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)
|
|
|
|
NM_001854.4(COL11A1):c.2754+5G>A
|
rs1057518666
|
|
|
NM_001854.4(COL11A1):c.2755-2A>G
|
rs2101653580
|
|
|
NM_001854.4(COL11A1):c.2916+1G>A
|
rs2101595036
|
|
|
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)
|
rs1557877041
|
|
|
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)
|
rs764282256
|
|
|
NM_001854.4(COL11A1):c.3276+1G>C
|
rs2101406339
|
|
|
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)
|
|
|
|
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)
|
rs750291363
|
|
|
NM_001854.4(COL11A1):c.3762+2T>C
|
|
|
|
NM_001854.4(COL11A1):c.3883_3892del (p.Ala1295fs)
|
|
|
|
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)
|
rs763199410
|
|
|
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)
|
rs1553193910
|
|