NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_000088.4(COL1A1):c.3223= (p.Ala1075=)
|
rs1800215
|
0.97286
|
NM_000088.4(COL1A1):c.1669-31T>C
|
rs1007086
|
0.64557
|
NM_000088.4(COL1A1):c.299-20C>G
|
rs2256835
|
0.54824
|
NM_000088.4(COL1A1):c.4249-12G>A
|
rs2249492
|
0.52233
|
NM_000088.4(COL1A1):c.2560-18C>G
|
rs2075559
|
0.50861
|
NM_000088.4(COL1A1):c.104-441G>T
|
rs1800012
|
0.13897
|
NM_000088.4(COL1A1):c.1930-14T>C
|
rs2696247
|
0.13425
|
NM_000088.4(COL1A1):c.642+18A>C
|
rs16948767
|
0.12150
|
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=)
|
rs1800218
|
0.04610
|
NM_000088.4(COL1A1):c.177G>T (p.Arg59=)
|
rs1057297
|
0.04003
|
NM_000088.4(COL1A1):c.696+54G>A
|
rs73987447
|
0.03766
|
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr)
|
rs1800215
|
0.02714
|
NM_000088.3(COL1A1):c.-161C>T
|
rs113647555
|
0.02290
|
NM_000088.4(COL1A1):c.298+7C>A
|
rs41317345
|
0.01333
|
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=)
|
rs35017779
|
0.01114
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00578
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
NM_000088.4(COL1A1):c.612C>T (p.Pro204=)
|
rs138078016
|
0.00480
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)
|
rs41316725
|
0.00431
|
NM_000088.4(COL1A1):c.2127+60T>C
|
rs112502723
|
0.00414
|
NM_000088.4(COL1A1):c.4005+44G>A
|
rs145008436
|
0.00381
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_000088.4(COL1A1):c.-41C>T
|
rs200106397
|
0.00277
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=)
|
rs144134990
|
0.00245
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_000088.4(COL1A1):c.1668+16C>T
|
rs41316659
|
0.00160
|
NM_000088.4(COL1A1):c.2236-17C>G
|
rs193922146
|
0.00137
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000088.4(COL1A1):c.642+11T>C
|
rs376087528
|
0.00127
|
NM_000088.4(COL1A1):c.2613+14G>A
|
rs41316685
|
0.00101
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_000088.4(COL1A1):c.3531+14C>T
|
rs199766533
|
0.00053
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000088.4(COL1A1):c.2668-12A>G
|
rs200355573
|
0.00037
|
NM_000088.4(COL1A1):c.588+16G>A
|
rs191715075
|
0.00032
|
NM_000088.4(COL1A1):c.1002+10G>T
|
rs368316440
|
0.00031
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=)
|
rs146450504
|
0.00022
|
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=)
|
rs551706871
|
0.00019
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000088.4(COL1A1):c.299-15C>T
|
rs199523510
|
0.00019
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=)
|
rs776387246
|
0.00013
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000088.4(COL1A1):c.2127+12G>A
|
rs778814970
|
0.00013
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00011
|
NM_000088.4(COL1A1):c.1300-9C>T
|
rs780311548
|
0.00010
|
NM_000088.4(COL1A1):c.588+15C>T
|
rs371817394
|
0.00009
|
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)
|
rs375695940
|
0.00006
|
NM_000088.4(COL1A1):c.3099+15C>A
|
rs1189154641
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
0.00006
|
NM_000088.4(COL1A1):c.4017C>T (p.Gly1339=)
|
rs201256042
|
0.00006
|
NM_000088.4(COL1A1):c.589-20T>C
|
rs370564344
|
0.00006
|
NM_000088.4(COL1A1):c.1515+20G>A
|
rs373728987
|
0.00004
|
NM_000088.4(COL1A1):c.1785T>A (p.Ala595=)
|
rs780217716
|
0.00004
|
NM_000088.4(COL1A1):c.1929+4A>C
|
rs376244140
|
0.00004
|
NM_000088.4(COL1A1):c.4362C>T (p.Phe1454=)
|
rs758524007
|
0.00004
|
NM_000088.4(COL1A1):c.544-4A>G
|
rs369898579
|
0.00004
|
NM_000088.4(COL1A1):c.*20G>C
|
rs199806909
|
0.00003
|
NM_000088.4(COL1A1):c.3045+3G>A
|
rs41316695
|
0.00003
|
NM_000088.4(COL1A1):c.3532-13C>T
|
rs369694934
|
0.00003
|
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=)
|
rs753536372
|
0.00003
|
NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=)
|
rs755763693
|
0.00003
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=)
|
rs765353412
|
0.00002
|
NM_000088.4(COL1A1):c.-43C>T
|
rs368832341
|
0.00001
|
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=)
|
rs745564892
|
0.00001
|
NM_000088.4(COL1A1):c.1929+17G>C
|
rs1291997527
|
0.00001
|
NM_000088.4(COL1A1):c.2343+18C>T
|
rs1050837911
|
0.00001
|
NM_000088.4(COL1A1):c.2829+20T>C
|
rs372169804
|
0.00001
|
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)
|
rs370529603
|
0.00001
|
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr)
|
rs1057518340
|
0.00001
|
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)
|
rs918420911
|
0.00001
|
NM_000088.4(COL1A1):c.945C>T (p.Ala315=)
|
rs780242725
|
0.00001
|
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu)
|
rs1555574123
|
|
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser)
|
rs72648339
|
|
NM_000088.4(COL1A1):c.165C>T (p.Pro55=)
|
rs1057523677
|
|
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala)
|
rs1598295066
|
|
NM_000088.4(COL1A1):c.1720del (p.Arg574fs)
|
rs1555573621
|
|
NM_000088.4(COL1A1):c.1768-18A>C
|
rs767179998
|
|
NM_000088.4(COL1A1):c.1822-32del
|
rs757681237
|
|
NM_000088.4(COL1A1):c.1875+8T>A
|
rs756572885
|
|
NM_000088.4(COL1A1):c.1876-6G>A
|
rs763222869
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del)
|
rs1598302040
|
|
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)
|
rs67368147
|
|
NM_000088.4(COL1A1):c.2128-1G>C
|
rs67543897
|
|
NM_000088.4(COL1A1):c.2235+11C>A
|
rs572426023
|
|
NM_000088.4(COL1A1):c.2235+11C>G
|
rs572426023
|
|
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
|
|
|
NM_000088.4(COL1A1):c.2344-7C>T
|
rs1031284183
|
|
NM_000088.4(COL1A1):c.2397+13G>A
|
rs200821764
|
|
NM_000088.4(COL1A1):c.2451+14C>A
|
|
|
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=)
|
rs764910205
|
|
NM_000088.4(COL1A1):c.2560-18C>T
|
rs2075559
|
|
NM_000088.4(COL1A1):c.2668-7C>T
|
rs1555572488
|
|
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1])
|
rs1555572458
|
|
NM_000088.4(COL1A1):c.2829+1G>A
|
rs72653156
|
|
NM_000088.4(COL1A1):c.2830-11G>A
|
rs1555572425
|
|
NM_000088.4(COL1A1):c.2937+9C>T
|
rs1555572393
|
|
NM_000088.4(COL1A1):c.298+20CTGGGGC[4]
|
rs150854949
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3046-20CT[7]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3424-10C>T
|
rs1555571948
|
|
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)
|
rs1555575857
|
|
NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=)
|
rs768572265
|
|
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg)
|
rs1555571769
|
|
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr)
|
rs1555571536
|
|
NM_000088.4(COL1A1):c.459T>C (p.Pro153=)
|
rs1555575026
|
|