NM_001379500.1(COL18A1):c.107-12592T>C
|
rs914230
|
0.96979
|
NM_001379500.1(COL18A1):c.2352+28A>G
|
rs749627
|
0.49789
|
NM_001379500.1(COL18A1):c.2215-107T>A
|
rs2297289
|
0.46185
|
NM_001379500.1(COL18A1):c.107-12073A>G
|
rs2236451
|
0.39262
|
NM_001379500.1(COL18A1):c.1702-64G>A
|
rs2274809
|
0.35477
|
NM_001379500.1(COL18A1):c.2215-142T>C
|
rs2297288
|
0.32958
|
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=)
|
rs11702425
|
0.32196
|
NM_001379500.1(COL18A1):c.1611+161A>G
|
rs2838940
|
0.31974
|
NM_001379500.1(COL18A1):c.1833+54A>G
|
rs3818662
|
0.31801
|
NM_001379500.1(COL18A1):c.1453-68C>T
|
rs28608951
|
0.31794
|
NM_001379500.1(COL18A1):c.2031+155T>C
|
rs74504453
|
0.31432
|
NM_001379500.1(COL18A1):c.2031+61T>C
|
rs2838947
|
0.27917
|
NM_001379500.1(COL18A1):c.2278-105C>G
|
rs749626
|
0.27219
|
NM_001379500.1(COL18A1):c.652-42A>G
|
rs2236456
|
0.23845
|
NM_001379500.1(COL18A1):c.107-11850G>A
|
rs11702494
|
0.23796
|
NM_001379500.1(COL18A1):c.1674+34A>C
|
rs12482088
|
0.23085
|
NM_001379500.1(COL18A1):c.798+58G>A
|
rs77596926
|
0.22739
|
NM_001379500.1(COL18A1):c.107-177A>T
|
rs7279077
|
0.22610
|
NM_001379500.1(COL18A1):c.738+107C>T
|
rs2236457
|
0.22139
|
NM_001379500.1(COL18A1):c.1222-67T>C
|
rs2236464
|
0.21149
|
NM_001379500.1(COL18A1):c.928+64T>G
|
rs80289899
|
0.20788
|
NM_001379500.1(COL18A1):c.928+208_928+209del
|
rs75692972
|
0.20516
|
NM_001379500.1(COL18A1):c.1896+56G>A
|
rs9976784
|
0.19694
|
NM_001379500.1(COL18A1):c.1611+84C>T
|
rs9983599
|
0.19281
|
NM_001379500.1(COL18A1):c.1702-148C>T
|
rs2274808
|
0.19280
|
NM_001379500.1(COL18A1):c.1398+144G>A
|
rs9980181
|
0.19255
|
NM_001379500.1(COL18A1):c.928+95T>G
|
rs79633299
|
0.19059
|
NM_001379500.1(COL18A1):c.798+73_798+74del
|
rs35616809
|
0.17940
|
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=)
|
rs2230688
|
0.17750
|
NM_001379500.1(COL18A1):c.2380-134A>G
|
rs9977637
|
0.17533
|
NM_001379500.1(COL18A1):c.1959+81G>A
|
rs8131819
|
0.17277
|
NM_001379500.1(COL18A1):c.1834-74C>T
|
rs9977268
|
0.16977
|
NM_001379500.1(COL18A1):c.2352+122T>C
|
rs73228774
|
0.16741
|
NM_001379500.1(COL18A1):c.2353-198G>A
|
rs60331963
|
0.16602
|
NM_001379500.1(COL18A1):c.2278-115G>A
|
rs749625
|
0.16560
|
NM_001379500.1(COL18A1):c.2353-196T>C
|
rs1556330
|
0.16256
|
NM_001379500.1(COL18A1):c.2215-130C>T
|
rs75227606
|
0.16184
|
NM_001379500.1(COL18A1):c.2620+29C>T
|
rs73370840
|
0.16080
|
NM_001379500.1(COL18A1):c.1249-144G>A
|
rs9979599
|
0.14746
|
NM_001379500.1(COL18A1):c.2215-191G>A
|
rs2297287
|
0.14504
|
NM_001379500.1(COL18A1):c.2353-197C>T
|
rs71324428
|
0.13594
|
NM_001379500.1(COL18A1):c.107-15088T>C
|
rs62216320
|
0.13124
|
NM_001379500.1(COL18A1):c.1981G>A (p.Val661Ile)
|
rs62000962
|
0.12931
|
NM_001379500.1(COL18A1):c.1275C>T (p.Pro425=)
|
rs1131100
|
0.12789
|
NM_001379500.1(COL18A1):c.929-72T>C
|
rs2236463
|
0.12628
|
NM_001379500.1(COL18A1):c.929-104C>T
|
rs2236462
|
0.12574
|
NM_001379500.1(COL18A1):c.1290C>T (p.Asp430=)
|
rs1131101
|
0.12488
|
NM_001379500.1(COL18A1):c.1428C>T (p.Phe476=)
|
rs2236467
|
0.12399
|
NM_001379500.1(COL18A1):c.1702-85A>G
|
rs2246749
|
0.12115
|
NM_001379500.1(COL18A1):c.1249-93T>C
|
rs7280620
|
0.10966
|
NM_001379500.1(COL18A1):c.1399-49G>C
|
rs2236465
|
0.10924
|
NM_001379500.1(COL18A1):c.2031+92C>G
|
rs116274237
|
0.09737
|
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=)
|
rs13046486
|
0.09402
|
NM_001379500.1(COL18A1):c.2032-107C>T
|
rs112239383
|
0.08620
|
NM_001379500.1(COL18A1):c.2031+93C>T
|
rs114405888
|
0.08073
|
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)
|
rs79980197
|
0.07777
|
NM_001379500.1(COL18A1):c.828G>A (p.Ala276=)
|
rs2230686
|
0.07106
|
NM_001379500.1(COL18A1):c.2157+80dup
|
rs201689768
|
0.06938
|
NM_001379500.1(COL18A1):c.1923+211C>T
|
rs2838946
|
0.06515
|
NM_001379500.1(COL18A1):c.1959+91T>C
|
rs117865619
|
0.06349
|
NM_001379500.1(COL18A1):c.107-12962C>T
|
rs34336421
|
0.05890
|
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=)
|
rs61731167
|
0.05785
|
NM_001379500.1(COL18A1):c.2620+175del
|
rs34964495
|
0.05675
|
NM_001379500.1(COL18A1):c.1702-65C>T
|
rs79985863
|
0.05402
|
NM_001379500.1(COL18A1):c.1897-229C>G
|
rs78094056
|
0.04854
|
NM_001379500.1(COL18A1):c.1960-22G>A
|
rs75354819
|
0.04787
|
NM_001379500.1(COL18A1):c.2031+149C>T
|
rs577554539
|
0.04651
|
NM_001379500.1(COL18A1):c.107-11537T>C
|
rs114463382
|
0.04603
|
NM_001379500.1(COL18A1):c.2352+25G>A
|
rs77010332
|
0.03378
|
NM_001379500.1(COL18A1):c.2277+47G>C
|
rs2297290
|
0.03371
|
NM_001379500.1(COL18A1):c.2434-117G>C
|
rs2236476
|
0.03371
|
NM_001379500.1(COL18A1):c.107-168G>A
|
rs79170909
|
0.03234
|
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His)
|
rs2230693
|
0.03222
|
NM_001379500.1(COL18A1):c.603C>T (p.Ala201=)
|
rs17004776
|
0.03174
|
NM_001379500.1(COL18A1):c.510A>G (p.Ala170=)
|
rs76754353
|
0.03171
|
NM_001379500.1(COL18A1):c.420A>G (p.Thr140=)
|
rs17004775
|
0.03170
|
NM_001379500.1(COL18A1):c.651+150T>C
|
rs528149725
|
0.03161
|
NM_001379500.1(COL18A1):c.651+149C>T
|
rs560995779
|
0.03156
|
NM_001379500.1(COL18A1):c.107-11487T>C
|
rs58491986
|
0.03060
|
NM_001379500.1(COL18A1):c.651+179C>T
|
rs116310358
|
0.02999
|
NM_001379500.1(COL18A1):c.799-212_799-207del
|
rs1409194059
|
0.02867
|
NM_001379500.1(COL18A1):c.915G>T (p.Val305=)
|
rs17338853
|
0.02722
|
NM_001379500.1(COL18A1):c.2031+154C>T
|
rs879191830
|
0.02639
|
NM_001379500.1(COL18A1):c.1833+178C>T
|
rs115843278
|
0.02561
|
NM_001379500.1(COL18A1):c.1221+14T>C
|
rs9976881
|
0.02526
|
NM_001379500.1(COL18A1):c.2277+14G>T
|
rs145217573
|
0.02518
|
NM_001379500.1(COL18A1):c.2031+166G>A
|
rs151172738
|
0.02312
|
NM_001379500.1(COL18A1):c.2578-189G>C
|
rs2838948
|
0.02203
|
NM_001379500.1(COL18A1):c.107-12570C>G
|
rs61749002
|
0.02132
|
NM_001379500.1(COL18A1):c.107-12473C>G
|
rs61739237
|
0.02127
|
NM_001379500.1(COL18A1):c.1960-88G>A
|
rs148618557
|
0.01879
|
NM_001379500.1(COL18A1):c.107-12282G>A
|
rs61759533
|
0.01649
|
NM_001379500.1(COL18A1):c.1674+124A>G
|
rs73370812
|
0.01633
|
NM_001379500.1(COL18A1):c.1398+30C>T
|
rs75859100
|
0.01565
|
NM_001379500.1(COL18A1):c.1399-132C>T
|
rs114211166
|
0.01554
|
NM_001379500.1(COL18A1):c.1453-71G>A
|
rs115375332
|
0.01552
|
NM_001379500.1(COL18A1):c.107-11439G>C
|
rs77180157
|
0.01495
|
NM_001379500.1(COL18A1):c.738+20C>T
|
rs115310886
|
0.01438
|
NM_001379500.1(COL18A1):c.1509C>T (p.Gly503=)
|
rs112723616
|
0.01339
|
NM_001379500.1(COL18A1):c.107-12566A>T
|
rs61735029
|
0.01258
|
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser)
|
rs76547444
|
0.01152
|
NM_001379500.1(COL18A1):c.126G>A (p.Val42=)
|
rs115800039
|
0.01130
|
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp)
|
rs76658745
|
0.01115
|
NM_001379500.1(COL18A1):c.2196G>A (p.Pro732=)
|
rs115470104
|
0.00930
|
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met)
|
rs116111018
|
0.00795
|
NM_001379500.1(COL18A1):c.107-12152C>T
|
rs142892701
|
0.00779
|
NM_001379500.1(COL18A1):c.107-12174G>A
|
rs148957774
|
0.00732
|
NM_001379500.1(COL18A1):c.107-12656C>T
|
rs7277693
|
0.00639
|
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=)
|
rs373748503
|
0.00581
|
NM_001379500.1(COL18A1):c.107-12381G>A
|
rs114139997
|
0.00549
|
NM_001379500.1(COL18A1):c.2215-113G>A
|
rs560168350
|
0.00530
|
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn)
|
rs61738822
|
0.00478
|
NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=)
|
rs2230689
|
0.00474
|
NM_001379500.1(COL18A1):c.738+19A>C
|
rs58673292
|
0.00463
|
NM_001379500.1(COL18A1):c.667C>T (p.Leu223=)
|
rs60162212
|
0.00449
|
NM_001379500.1(COL18A1):c.2379+7C>T
|
rs202100967
|
0.00379
|
NM_001379500.1(COL18A1):c.2032-9T>A
|
rs144913625
|
0.00375
|
NM_001379500.1(COL18A1):c.1998C>T (p.Gly666=)
|
rs62000963
|
0.00366
|
NM_001379500.1(COL18A1):c.2352+7G>C
|
rs370225383
|
0.00364
|
NM_001379500.1(COL18A1):c.2577+20A>G
|
rs188722535
|
0.00361
|
NM_001379500.1(COL18A1):c.1675-6G>A
|
rs142726108
|
0.00263
|
NM_001379500.1(COL18A1):c.1834-16C>T
|
rs75606818
|
0.00229
|
NM_001379500.1(COL18A1):c.2673C>T (p.Pro891=)
|
rs191481067
|
0.00202
|
NM_001379500.1(COL18A1):c.107-12124C>G
|
rs199717521
|
0.00197
|
NM_001379500.1(COL18A1):c.2353-17C>T
|
rs370772207
|
0.00189
|
NM_001379500.1(COL18A1):c.107-12364C>T
|
rs62000459
|
0.00134
|
NM_001379500.1(COL18A1):c.1203T>C (p.Pro401=)
|
rs375400196
|
0.00126
|
NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=)
|
rs368594049
|
0.00117
|
NM_001379500.1(COL18A1):c.693G>A (p.Val231=)
|
rs149772252
|
0.00108
|
NM_001379500.1(COL18A1):c.107-12541A>G
|
rs200354859
|
0.00090
|
NM_001379500.1(COL18A1):c.1896+19C>T
|
rs2236474
|
0.00083
|
NM_001379500.1(COL18A1):c.1702-20G>A
|
rs374576102
|
0.00081
|
NM_001379500.1(COL18A1):c.2490C>T (p.Ser830=)
|
rs377601838
|
0.00081
|
NM_001379500.1(COL18A1):c.1674+17G>C
|
rs373757560
|
0.00073
|
NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=)
|
rs369390092
|
0.00071
|
NM_001379500.1(COL18A1):c.336G>A (p.Thr112=)
|
rs61735014
|
0.00056
|
NM_001379500.1(COL18A1):c.2328G>A (p.Leu776=)
|
rs537203447
|
0.00053
|
NM_001379500.1(COL18A1):c.1311+18G>A
|
rs369997916
|
0.00043
|
NM_001379500.1(COL18A1):c.1542C>T (p.Asp514=)
|
rs200106008
|
0.00037
|
NM_001379500.1(COL18A1):c.984C>A (p.Thr328=)
|
rs563744859
|
0.00036
|
NM_001379500.1(COL18A1):c.604G>A (p.Gly202Arg)
|
rs373735265
|
0.00026
|
NM_001379500.1(COL18A1):c.107-12121C>T
|
rs746406313
|
0.00021
|
NM_001379500.1(COL18A1):c.1323G>A (p.Gly441=)
|
rs201380467
|
0.00020
|
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=)
|
rs75222922
|
0.00016
|
NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln)
|
rs2236453
|
0.00014
|
NM_001379500.1(COL18A1):c.107-12382C>T
|
rs374634058
|
0.00010
|
NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=)
|
rs139122081
|
0.00010
|
NM_001379500.1(COL18A1):c.2032-10G>A
|
rs368213286
|
0.00004
|
NM_001379500.1(COL18A1):c.2434-8C>T
|
rs367814420
|
0.00004
|
NM_001379500.1(COL18A1):c.759C>T (p.Ser253=)
|
rs374330522
|
0.00004
|
NM_001379500.1(COL18A1):c.561G>A (p.Pro187=)
|
rs534851819
|
0.00002
|
NM_001379500.1(COL18A1):c.1185G>A (p.Pro395=)
|
rs558230047
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:46817380-46854982)x3
|
|
|
NM_001379500.1(COL18A1):c.1005+7C>G
|
rs371767810
|
|
NM_001379500.1(COL18A1):c.107-11576C>T
|
rs8133886
|
|
NM_001379500.1(COL18A1):c.107-11983C>T
|
rs2236452
|
|
NM_001379500.1(COL18A1):c.107-12195G>A
|
rs62000960
|
|
NM_001379500.1(COL18A1):c.1221+20dup
|
rs200362222
|
|
NM_001379500.1(COL18A1):c.1249-138G>C
|
rs9979601
|
|
NM_001379500.1(COL18A1):c.1249-17C>T
|
rs374049871
|
|
NM_001379500.1(COL18A1):c.1257C>A (p.Thr419=)
|
rs183085141
|
|
NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=)
|
rs1131102
|
|
NM_001379500.1(COL18A1):c.1312-31A>G
|
rs80199607
|
|
NM_001379500.1(COL18A1):c.1312-37G>A
|
rs9979845
|
|
NM_001379500.1(COL18A1):c.1398+7C>G
|
rs74439012
|
|
NM_001379500.1(COL18A1):c.1399-48C>G
|
rs2236466
|
|
NM_001379500.1(COL18A1):c.1834-23C>A
|
rs73370824
|
|
NM_001379500.1(COL18A1):c.1923+14_1923+15del
|
rs750682932
|
|
NM_001379500.1(COL18A1):c.2031+105T>C
|
rs73228766
|
|
NM_001379500.1(COL18A1):c.2031+138G>A
|
rs111450913
|
|
NM_001379500.1(COL18A1):c.2031+145_2031+146insAC
|
rs139849924
|
|
NM_001379500.1(COL18A1):c.2031+148C>G
|
rs552856971
|
|
NM_001379500.1(COL18A1):c.2031+174_2031+175del
|
rs71851609
|
|
NM_001379500.1(COL18A1):c.2031+91_2031+92insGTGGGT
|
rs773887057
|
|
NM_001379500.1(COL18A1):c.2031+93_2031+94insCTGGGCCTCCATGTGCCCTCGT
|
rs1568921346
|
|
NM_001379500.1(COL18A1):c.2032-175_2032-174insGTCTCTG
|
rs71185154
|
|
NM_001379500.1(COL18A1):c.2157+14G>A
|
rs200650755
|
|
NM_001379500.1(COL18A1):c.2157+151_2157+152insTAGAGG
|
rs769431409
|
|
NM_001379500.1(COL18A1):c.2157+162C>T
|
rs74612549
|
|
NM_001379500.1(COL18A1):c.2157+48G>T
|
rs62216329
|
|
NM_001379500.1(COL18A1):c.2157+79dup
|
rs148502711
|
|
NM_001379500.1(COL18A1):c.2158-63C>T
|
rs1556329
|
|
NM_001379500.1(COL18A1):c.2214+35_2214+36insCCACTGCCCTCCCG
|
rs11267376
|
|
NM_001379500.1(COL18A1):c.2353-17_2353-15del
|
rs762244775
|
|
NM_001379500.1(COL18A1):c.2379+91C>T
|
rs1556331
|
|
NM_001379500.1(COL18A1):c.2508+175_2508+176insACAT
|
rs3028017
|
|
NM_001379500.1(COL18A1):c.2508+182G>A
|
rs62214267
|
|
NM_001379500.1(COL18A1):c.2577+37del
|
rs397867048
|
|
NM_001379500.1(COL18A1):c.624G>A (p.Ala208=)
|
rs76148908
|
|
NM_001379500.1(COL18A1):c.651+129G>T
|
rs114515445
|
|
NM_001379500.1(COL18A1):c.651+44_651+48del
|
rs141013119
|
|
NM_001379500.1(COL18A1):c.776G>T (p.Arg259Leu)
|
rs62000965
|
|
NM_001379500.1(COL18A1):c.780G>C (p.Glu260Asp)
|
rs560442019
|
|
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=)
|
rs2230687
|
|
NM_001379500.1(COL18A1):c.837C>G (p.Pro279=)
|
rs2230687
|
|
NM_001379500.1(COL18A1):c.846G>A (p.Thr282=)
|
rs2230688
|
|
NM_001379500.1(COL18A1):c.929-111C>T
|
rs9976834
|
|
NM_001379500.1(COL18A1):c.929-4C>A
|
rs370679863
|
|