NM_000088.4(COL1A1):c.3424-43C>T
|
rs41316717
|
0.01458
|
NM_000088.4(COL1A1):c.957+43G>A
|
rs76055698
|
0.01261
|
NM_000088.4(COL1A1):c.1768-60C>T
|
rs116464938
|
0.01136
|
NM_000088.4(COL1A1):c.3369+62C>T
|
rs41316711
|
0.01056
|
NM_000088.4(COL1A1):c.1354-52G>C
|
rs41317365
|
0.00912
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_000088.4(COL1A1):c.334-26T>A
|
rs41317347
|
0.00813
|
NM_000088.4(COL1A1):c.*1165C>G
|
rs149419718
|
0.00794
|
NM_000088.4(COL1A1):c.1822-57G>A
|
rs41316669
|
0.00778
|
NM_000088.4(COL1A1):c.544-24C>T
|
rs113638816
|
0.00677
|
NM_000088.4(COL1A1):c.4006-110G>A
|
rs113648997
|
0.00646
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00578
|
NM_000088.4(COL1A1):c.*1233G>A
|
rs73987442
|
0.00516
|
NM_000088.4(COL1A1):c.471+44T>C
|
rs189542584
|
0.00498
|
NM_000088.4(COL1A1):c.612C>T (p.Pro204=)
|
rs138078016
|
0.00480
|
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)
|
rs41316725
|
0.00431
|
NM_000088.4(COL1A1):c.2452-23del
|
rs146899953
|
0.00427
|
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.299-76T>A
|
rs375696477
|
0.00360
|
NC_000017.11:g.50201979G>T
|
rs530354504
|
0.00348
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000088.4(COL1A1):c.2668-47G>T
|
rs41316689
|
0.00325
|
NM_000088.4(COL1A1):c.1767+177G>T
|
rs187079088
|
0.00285
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_000088.4(COL1A1):c.*1088G>A
|
rs191326459
|
0.00264
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000088.4(COL1A1):c.999C>T (p.Pro333=)
|
rs62637627
|
0.00222
|
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.2236-17C>G
|
rs193922146
|
0.00137
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000088.4(COL1A1):c.2830-43C>T
|
rs192268642
|
0.00107
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)
|
rs148659814
|
0.00085
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)
|
rs138544681
|
0.00069
|
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.1587C>T (p.Pro529=)
|
rs113437353
|
0.00061
|
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala)
|
rs142570406
|
0.00059
|
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=)
|
rs142312753
|
0.00054
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
NM_000088.4(COL1A1):c.3424-6C>A
|
rs370865189
|
0.00044
|
NM_000088.4(COL1A1):c.1984-7C>G
|
rs376886366
|
0.00043
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser)
|
rs145446512
|
0.00041
|
NM_000088.4(COL1A1):c.3369+28C>T
|
rs2277634
|
0.00041
|
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)
|
rs764381074
|
0.00038
|
NM_000088.4(COL1A1):c.1002+10G>T
|
rs368316440
|
0.00031
|
NM_000088.4(COL1A1):c.1876-10C>T
|
rs370308401
|
0.00031
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=)
|
rs143049736
|
0.00029
|
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=)
|
rs41316673
|
0.00026
|
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys)
|
rs199911681
|
0.00023
|
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)
|
rs149301001
|
0.00019
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000088.4(COL1A1):c.3100-6C>T
|
rs377123276
|
0.00019
|
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=)
|
rs151328660
|
0.00018
|
NM_000088.4(COL1A1):c.2236-9T>C
|
rs375248255
|
0.00018
|
NM_000088.4(COL1A1):c.3815-12G>T
|
rs201066018
|
0.00017
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
NM_000088.4(COL1A1):c.*4C>T
|
rs770414874
|
0.00014
|
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=)
|
rs757237837
|
0.00014
|
NM_000088.4(COL1A1):c.3255C>T (p.Gly1085=)
|
rs369670483
|
0.00014
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=)
|
rs568904847
|
0.00012
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
NM_000088.4(COL1A1):c.2532C>T (p.Ala844=)
|
rs374158703
|
0.00010
|
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=)
|
rs368746726
|
0.00010
|
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)
|
rs138557594
|
0.00009
|
NM_000088.4(COL1A1):c.471+14C>G
|
rs774281966
|
0.00009
|
NM_000088.4(COL1A1):c.588+15C>T
|
rs371817394
|
0.00009
|
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
|
rs369699409
|
0.00008
|
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)
|
rs575285203
|
0.00008
|
NM_000088.4(COL1A1):c.1674C>T (p.Pro558=)
|
rs578167693
|
0.00006
|
NM_000088.4(COL1A1):c.1983+16C>T
|
rs536312322
|
0.00006
|
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)
|
rs200188855
|
0.00006
|
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)
|
rs150803124
|
0.00006
|
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)
|
rs200620805
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=)
|
rs200145743
|
0.00006
|
NM_000088.4(COL1A1):c.528C>T (p.Ser176=)
|
rs748856187
|
0.00006
|
NM_000088.4(COL1A1):c.2028+18G>A
|
rs745829877
|
0.00005
|
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=)
|
rs761635519
|
0.00004
|
NM_000088.4(COL1A1):c.1930-5T>C
|
rs762377921
|
0.00004
|
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=)
|
rs137937544
|
0.00004
|
NM_000088.4(COL1A1):c.299-9G>T
|
rs373041336
|
0.00004
|
NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=)
|
rs772750234
|
0.00004
|
NM_000088.4(COL1A1):c.408A>G (p.Gly136=)
|
rs533127847
|
0.00004
|
NM_000088.4(COL1A1):c.1491C>T (p.Gly497=)
|
rs773286290
|
0.00003
|
NM_000088.4(COL1A1):c.3045+3G>A
|
rs41316695
|
0.00003
|
NM_000088.4(COL1A1):c.3093C>T (p.Gly1031=)
|
rs753135498
|
0.00003
|
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=)
|
rs374853330
|
0.00003
|
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)
|
rs761895918
|
0.00003
|
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
|
rs543735501
|
0.00002
|
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=)
|
rs776229611
|
0.00002
|
NM_000088.4(COL1A1):c.1515+6C>T
|
rs369422507
|
0.00002
|
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr)
|
rs558173513
|
0.00002
|
NM_000088.4(COL1A1):c.1881C>T (p.Pro627=)
|
rs550265501
|
0.00002
|
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=)
|
rs374465457
|
0.00002
|
NM_000088.4(COL1A1):c.323C>T (p.Thr108Ile)
|
rs765837515
|
0.00002
|
NM_000088.4(COL1A1):c.336A>T (p.Gly112=)
|
rs749946056
|
0.00002
|
NM_000088.4(COL1A1):c.3468C>T (p.Asn1156=)
|
rs149980662
|
0.00002
|
NM_000088.4(COL1A1):c.3595A>G (p.Ser1199Gly)
|
rs776355079
|
0.00002
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val)
|
rs546629502
|
0.00001
|
NM_000088.4(COL1A1):c.1822-10C>T
|
rs767754125
|
0.00001
|
NM_000088.4(COL1A1):c.1929+11A>G
|
rs1323161515
|
0.00001
|
NM_000088.4(COL1A1):c.1984-13C>A
|
rs772638625
|
0.00001
|
NM_000088.4(COL1A1):c.2100C>T (p.Asn700=)
|
rs201122145
|
0.00001
|
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=)
|
rs777571745
|
0.00001
|
NM_000088.4(COL1A1):c.2883C>T (p.Val961=)
|
rs761548060
|
0.00001
|
NM_000088.4(COL1A1):c.3013T>C (p.Leu1005=)
|
rs772060459
|
0.00001
|
NM_000088.4(COL1A1):c.3100-5G>A
|
rs751822769
|
0.00001
|
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=)
|
rs768896689
|
0.00001
|
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)
|
rs370529603
|
0.00001
|
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)
|
rs766461654
|
0.00001
|
NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=)
|
rs745816283
|
0.00001
|
NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys)
|
rs762848021
|
0.00001
|
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=)
|
rs770326881
|
0.00001
|
NM_000088.4(COL1A1):c.*1026_*1028del
|
rs751268781
|
|
NM_000088.4(COL1A1):c.*1026del
|
rs58879635
|
|
NM_000088.4(COL1A1):c.*1027G>T
|
rs200882287
|
|
NM_000088.4(COL1A1):c.*1050del
|
rs535610699
|
|
NM_000088.4(COL1A1):c.*142del
|
rs572791972
|
|
NM_000088.4(COL1A1):c.*479C>T
|
rs75168103
|
|
NM_000088.4(COL1A1):c.1002+8T>C
|
rs1598297956
|
|
NM_000088.4(COL1A1):c.103+123_103+125del
|
rs539689232
|
|
NM_000088.4(COL1A1):c.1056+12dup
|
rs766175536
|
|
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
|
|
|
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1300-12dup
|
rs776544779
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1353+10C>T
|
rs1598296540
|
|
NM_000088.4(COL1A1):c.1443C>G (p.Pro481=)
|
rs770169695
|
|
NM_000088.4(COL1A1):c.1443C>T (p.Pro481=)
|
rs770169695
|
|
NM_000088.4(COL1A1):c.1533T>G (p.Arg511=)
|
rs899423835
|
|
NM_000088.4(COL1A1):c.1674C>A (p.Pro558=)
|
|
|
NM_000088.4(COL1A1):c.1815C>T (p.Gly605=)
|
rs370384784
|
|
NM_000088.4(COL1A1):c.1930-29_1930-18del
|
rs1598293534
|
|
NM_000088.4(COL1A1):c.2344-7C>T
|
rs1031284183
|
|
NM_000088.4(COL1A1):c.2613+29C>T
|
rs41316687
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
NM_000088.4(COL1A1):c.2892T>G (p.Pro964=)
|
rs753585193
|
|
NM_000088.4(COL1A1):c.298+20CTGGGGC[3]
|
rs150854949
|
|
NM_000088.4(COL1A1):c.299-4C>T
|
rs780745594
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=)
|
rs994196345
|
|
NM_000088.4(COL1A1):c.3798C>T (p.His1266=)
|
rs1567752621
|
|
NM_000088.4(COL1A1):c.3815-9C>T
|
rs1314152402
|
|
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
|
|
|
NM_000088.4(COL1A1):c.3903C>T (p.Tyr1301=)
|
rs1239012334
|
|
NM_000088.4(COL1A1):c.4005+4C>T
|
rs528349466
|
|
NM_000088.4(COL1A1):c.4029C>T (p.Ser1343=)
|
|
|
NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=)
|
|
|
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3])
|
rs769867566
|
|
NM_000088.4(COL1A1):c.4314C>T (p.Pro1438=)
|
rs771512754
|
|
NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe)
|
|
|
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=)
|
rs112873723
|
|
NM_000088.4(COL1A1):c.472-13_472-12del
|
rs1210027118
|
|
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)
|
rs377195143
|
|
NM_000088.4(COL1A1):c.589-7TC[3]
|
|
|
NM_000088.4(COL1A1):c.978T>C (p.Gly326=)
|
rs1227051602
|
|