NM_001365276.2(TNXB):c.12469+2T>C
|
rs545719209
|
0.01022
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)
|
rs61741781
|
0.00116
|
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
|
rs199932922
|
0.00092
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu)
|
rs183760368
|
0.00073
|
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr)
|
rs146632722
|
0.00062
|
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala)
|
rs143226402
|
0.00021
|
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)
|
rs201390756
|
0.00021
|
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)
|
rs367685759
|
0.00019
|
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)
|
rs377386505
|
0.00013
|
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)
|
rs143604754
|
0.00012
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_013352.4(DSE):c.359T>C (p.Ile120Thr)
|
rs147451395
|
0.00009
|
NM_001365276.2(TNXB):c.2584C>T (p.Arg862Cys)
|
rs570806090
|
0.00008
|
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr)
|
rs549874193
|
0.00008
|
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)
|
rs772929903
|
0.00005
|
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys)
|
rs387907063
|
0.00005
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
NM_001365276.2(TNXB):c.788G>A (p.Arg263His)
|
rs371229076
|
0.00004
|
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu)
|
rs754569828
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp)
|
rs1394199246
|
0.00003
|
NM_014244.5(ADAMTS2):c.2086-3C>T
|
rs756427989
|
0.00003
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)
|
rs767343975
|
0.00002
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp)
|
rs1195535094
|
0.00001
|
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)
|
rs1224538282
|
0.00001
|
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)
|
rs778385867
|
0.00001
|
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)
|
rs1360400826
|
0.00001
|
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
|
rs781816229
|
0.00001
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)
|
rs957402222
|
0.00001
|
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr)
|
rs903409672
|
0.00001
|
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln)
|
rs571207087
|
0.00001
|
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp)
|
rs1366474005
|
0.00001
|
NM_014244.5(ADAMTS2):c.1288C>T (p.Arg430Trp)
|
rs761498949
|
0.00001
|
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser)
|
rs142429109
|
0.00001
|
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys)
|
rs1192635116
|
0.00001
|
NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val)
|
rs1422897152
|
0.00001
|
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
|
|
|
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)
|
rs1584320605
|
|
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)
|
rs1792148801
|
|
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg)
|
rs1688231206
|
|
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro)
|
rs770525372
|
|
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)
|
rs1576471840
|
|
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)
|
|
|
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)
|
rs587779646
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)
|
rs1158116878
|
|
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)
|
rs587779565
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)
|
rs1553507614
|
|
NM_000093.5(COL5A1):c.1937_1946del
|
rs2132717812
|
|
NM_000093.5(COL5A1):c.3007-14G>A
|
rs1838163235
|
|
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser)
|
rs1838247641
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs)
|
rs1057518653
|
|
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT
|
rs1839542247
|
|
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys)
|
rs1645810603
|
|
NM_000302.4(PLOD1):c.1756-13C>A
|
|
|
NM_000302.4(PLOD1):c.1795del (p.Ile599fs)
|
rs1557500194
|
|
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg)
|
rs1685785467
|
|
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
|
|
|
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)
|
|
|
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala)
|
rs781946233
|
|
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)
|
rs2096226168
|
|
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)
|
rs2096232673
|
|
NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp)
|
rs913206509
|
|
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met)
|
rs372387718
|
|
NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr)
|
rs1778570345
|
|
NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln)
|
rs61729739
|
|
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del)
|
rs1215843229
|
|
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn)
|
rs985304000
|
|
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro)
|
rs1906626370
|
|
NM_001734.5(C1S):c.809T>C (p.Ile270Thr)
|
|
|
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
|
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys)
|
rs1770598850
|
|
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn)
|
rs1768550579
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)
|
|
|
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp)
|
rs770222232
|
|
NM_013352.4(DSE):c.2215G>T (p.Ala739Ser)
|
rs1784179508
|
|
NM_013352.4(DSE):c.364G>A (p.Ala122Thr)
|
rs1781474657
|
|
NM_013352.4(DSE):c.95T>A (p.Met32Lys)
|
rs140765634
|
|
NM_014244.5(ADAMTS2):c.2826C>T (p.Cys942=)
|
rs1397278885
|
|
NM_014244.5(ADAMTS2):c.3140G>A (p.Arg1047His)
|
rs1413406706
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
|
|
|
NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp)
|
rs1638554377
|
|
NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp)
|
rs1004549168
|
|
NM_130468.4(CHST14):c.61G>A (p.Ala21Thr)
|
rs1894339727
|
|
NM_130468.4(CHST14):c.637C>T (p.Arg213Trp)
|
rs1894353511
|
|