|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
|
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg)
|
rs1744257909
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2570G>A (p.Gly857Glu)
|
rs1553535161
|
0.00001
|
|
NC_000017.11:g.50188580_50188616del
|
rs1567754589
|
|
|
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)
|
|
|
|
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg)
|
rs2144573313
|
|
|
NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)
|
rs1598293646
|
|
|
NM_000088.4(COL1A1):c.1984-1G>T
|
rs2144561474
|
|
|
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter)
|
rs72651648
|
|
|
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser)
|
rs765659555
|
|
|
NM_000088.4(COL1A1):c.2668-2A>G
|
rs2144550759
|
|
|
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)
|
rs2144547622
|
|
|
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs)
|
rs1555572125
|
|
|
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)
|
rs67828806
|
|
|
NM_000088.4(COL1A1):c.805-1G>A
|
rs1598298699
|
|
|
NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys)
|
rs1584320553
|
|
|
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val)
|
rs1791951769
|
|
|
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp)
|
rs1792108270
|
|
|
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu)
|
rs2115931969
|
|
|
NM_000089.4(COL1A2):c.2673G>A (p.Val891=)
|
rs1114167364
|
|
|
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser)
|
rs1562907287
|
|
|
NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg)
|
rs2115954840
|
|
|
NM_000089.4(COL1A2):c.3089G>A (p.Gly1030Asp)
|
rs1114167415
|
|
|
NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)
|
|
|
|
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)
|
rs1131692167
|
|
|
NM_000089.4(COL1A2):c.928G>A (p.Gly310Ser)
|
|
|
|
NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)
|
|
|
|
NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe)
|
rs2150421317
|
|
|
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly)
|
rs2112493238
|
|
|
NM_001174147.2(LMX1B):c.139+5G>C
|
rs1114167421
|
|
|
NM_001174147.2(LMX1B):c.543del (p.Asp182fs)
|
rs1114167362
|
|
|
NM_001174147.2(LMX1B):c.667del (p.Arg223fs)
|
rs1564169730
|
|
|
NM_001174147.2(LMX1B):c.924del (p.Tyr309fs)
|
rs1588309277
|
|
|
NM_001844.5(COL2A1):c.1023+1G>C
|
rs886043794
|
|
|
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del)
|
rs2136587632
|
|
|
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
|
|
|
|
NM_001853.4(COL9A3):c.148-2A>G
|
|
|
|
NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser)
|
rs2063514944
|
|
|
NM_001854.4(COL11A1):c.2882G>A (p.Gly961Asp)
|
|
|
|
NM_002335.4(LRP5):c.3758G>A (p.Cys1253Tyr)
|
rs768615287
|
|
|
NM_002615.7(SERPINF1):c.727ATG[1] (p.Met244del)
|
rs750464528
|
|
|
NM_003995.4(NPR2):c.298G>A (p.Gly100Ser)
|
rs753644648
|
|
|
NM_003995.4(NPR2):c.493del (p.Arg165fs)
|
|
|
|
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp)
|
rs2145461096
|
|
|
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs)
|
rs1597795170
|
|
|
NM_004273.5(CHST3):c.1332C>G (p.Cys444Trp)
|
rs1216480002
|
|
|
NM_005032.7(PLS3):c.256del (p.Ser86fs)
|
rs1135402748
|
|
|
NM_005430.4(WNT1):c.437G>T (p.Gly146Val)
|
|
|
|
NM_006371.5(CRTAP):c.1152+5G>C
|
rs1553617810
|
|
|
NM_014822.4(SEC24D):c.1055T>A (p.Leu352Ter)
|
|
|
|
NM_014822.4(SEC24D):c.1724G>C (p.Gly575Ala)
|
|
|
|
NM_019074.4(DLL4):c.1844A>G (p.Tyr615Cys)
|
|
|
|
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)
|
rs1567855132
|
|
|
NM_022356.4(P3H1):c.1224-79G>A
|
|
|
|
NM_022356.4(P3H1):c.232C>T (p.Gln78Ter)
|
rs1330779100
|
|
|
NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys)
|
rs2133014993
|
|
|
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)
|
rs1583335192
|
|
|
NM_153365.3(TAPT1):c.323T>G (p.Leu108Trp)
|
|
|
|
NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys)
|
rs771710305
|
|