|
NM_001129.5(AEBP1):c.2218-37dup
|
rs11377645
|
1.00000
|
|
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)
|
rs9924504
|
0.99996
|
|
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=)
|
rs904783
|
0.99962
|
|
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
|
NM_000088.4(COL1A1):c.2830-33C>G
|
rs2586489
|
0.99956
|
|
NM_000093.5(COL5A1):c.-247T>G
|
rs71483234
|
0.99656
|
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
|
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala)
|
rs7199961
|
0.99603
|
|
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
|
NM_007255.3(B4GALT7):c.828+28A>G
|
rs6600953
|
0.99130
|
|
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=)
|
rs4782362
|
0.98833
|
|
NM_001367624.2(ZNF469):c.*788G>A
|
rs3894713
|
0.98791
|
|
NM_000088.4(COL1A1):c.3223= (p.Ala1075=)
|
rs1800215
|
0.97286
|
|
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=)
|
rs6434312
|
0.96092
|
|
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=)
|
rs2229495
|
0.95762
|
|
NM_013352.4(DSE):c.1926T>C (p.Asn642=)
|
rs560644
|
0.95438
|
|
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly)
|
rs2010519
|
0.94826
|
|
NM_000393.5(COL5A2):c.315C>A (p.Thr105=)
|
rs4128539
|
0.93266
|
|
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=)
|
rs423552
|
0.93088
|
|
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=)
|
rs9931465
|
0.89293
|
|
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=)
|
rs9938800
|
0.89252
|
|
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)
|
rs594012
|
0.87913
|
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
|
NM_000393.5(COL5A2):c.322+157C>T
|
rs4128538
|
0.86911
|
|
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=)
|
rs12927001
|
0.86712
|
|
NM_000088.4(COL1A1):c.2028+39C>T
|
rs2857396
|
0.85962
|
|
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=)
|
rs12445417
|
0.85761
|
|
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)
|
rs11640794
|
0.84448
|
|
NM_000089.4(COL1A2):c.936+14C>T
|
rs42518
|
0.81710
|
|
NM_000089.4(COL1A2):c.937-3C>T
|
rs42519
|
0.81243
|
|
NM_001367624.2(ZNF469):c.*1001A>G
|
rs3848234
|
0.80892
|
|
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)
|
rs42524
|
0.80779
|
|
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)
|
rs7197071
|
0.80067
|
|
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=)
|
rs4782301
|
0.77860
|
|
NM_000093.5(COL5A1):c.*2395G>T
|
rs4504708
|
0.76943
|
|
NM_000093.5(COL5A1):c.*83C>T
|
rs13946
|
0.76018
|
|
NM_001129.5(AEBP1):c.996A>G (p.Thr332=)
|
rs2595701
|
0.75024
|
|
NM_014244.5(ADAMTS2):c.*1468A>G
|
rs2059776
|
0.72686
|
|
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)
|
rs970547
|
0.72620
|
|
NM_004370.6(COL12A1):c.5525-132A>G
|
rs1332778
|
0.71264
|
|
NM_000090.4(COL3A1):c.2337+23T>A
|
rs2271682
|
0.71236
|
|
NM_000093.5(COL5A1):c.4955-28T>C
|
rs7868111
|
0.71059
|
|
NM_000088.4(COL1A1):c.1984-41G>A
|
rs2586490
|
0.70223
|
|
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu)
|
rs1009382
|
0.68787
|
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
|
NM_000093.5(COL5A1):c.*1125A>T
|
rs1134170
|
0.66610
|
|
NM_000088.4(COL1A1):c.3261+31T>C
|
rs2586488
|
0.66062
|
|
NM_000093.5(COL5A1):c.4608+31T>C
|
rs9697186
|
0.65324
|
|
NM_000093.5(COL5A1):c.2701-22C>T
|
rs4072883
|
0.65253
|
|
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=)
|
rs11537644
|
0.65175
|
|
NM_004370.6(COL12A1):c.7086+44C>G
|
rs499018
|
0.64589
|
|
NM_000093.5(COL5A1):c.1332+92C>G
|
rs3124310
|
0.64521
|
|
NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=)
|
rs204887
|
0.63524
|
|
NM_000093.5(COL5A1):c.*2501T>C
|
rs3128575
|
0.63348
|
|
NM_000093.5(COL5A1):c.4230+103T>C
|
rs11792894
|
0.61932
|
|
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)
|
rs12918876
|
0.60216
|
|
NM_007255.3(B4GALT7):c.777T>C (p.His259=)
|
rs729459
|
0.58812
|
|
NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
|
NM_000093.5(COL5A1):c.1432-24C>T
|
rs3109677
|
0.57123
|
|
NM_001365276.2(TNXB):c.*163G>A
|
rs1058152
|
0.54891
|
|
NM_000088.4(COL1A1):c.299-20C>G
|
rs2256835
|
0.54824
|
|
NM_001365276.2(TNXB):c.11531-25T>C
|
rs2856451
|
0.54722
|
|
NM_001365276.2(TNXB):c.7251A>G (p.Leu2417=)
|
rs204886
|
0.53630
|
|
NM_014874.3(MFN2):c.-212T>C
|
rs2180183
|
0.53102
|
|
NM_014874.3(MFN2):c.-367A>G
|
rs2236054
|
0.52635
|
|
NM_000088.4(COL1A1):c.4249-12G>A
|
rs2249492
|
0.52233
|
|
NM_000093.5(COL5A1):c.2952+11A>T
|
rs4240707
|
0.51337
|
|
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg)
|
rs185819
|
0.51248
|
|
NM_000093.5(COL5A1):c.2845-37A>G
|
rs3811159
|
0.48658
|
|
NM_014244.5(ADAMTS2):c.2291-43T>C
|
rs2251105
|
0.47685
|
|
NM_000093.5(COL5A1):c.4176+48A>G
|
rs10858283
|
0.47462
|
|
NM_000093.5(COL5A1):c.4176+35A>C
|
rs10776910
|
0.47443
|
|
NM_014244.5(ADAMTS2):c.*212A>C
|
rs10479525
|
0.47333
|
|
NM_014244.5(ADAMTS2):c.975+151T>A
|
rs1862212
|
0.47156
|
|
NM_014244.5(ADAMTS2):c.*842T>C
|
rs10038484
|
0.46646
|
|
NM_001365276.2(TNXB):c.11387-45T>C
|
rs397948
|
0.46540
|
|
NM_014244.5(ADAMTS2):c.2618-54C>T
|
rs2303643
|
0.46469
|
|
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln)
|
rs1105066
|
0.44478
|
|
NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu)
|
rs13928
|
0.44136
|
|
NM_000093.5(COL5A1):c.*267C>T
|
rs12722
|
0.43648
|
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
|
NM_004370.6(COL12A1):c.5395-29G>A
|
rs1332020
|
0.42606
|
|
NM_000093.5(COL5A1):c.1332+46T>C
|
rs3109675
|
0.41683
|
|
NM_000093.5(COL5A1):c.787-42C>T
|
rs3124302
|
0.39339
|
|
NM_000093.5(COL5A1):c.925-49A>G
|
rs3124308
|
0.39183
|
|
NM_000093.5(COL5A1):c.925-43G>A
|
rs3128598
|
0.39167
|
|
NM_018699.4(PRDM5):c.744-38C>T
|
rs2136998
|
0.38181
|
|
NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=)
|
rs204883
|
0.37626
|
|
NM_000093.5(COL5A1):c.2430+20C>T
|
rs3124932
|
0.36473
|
|
NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr)
|
rs2537188
|
0.36288
|
|
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg)
|
rs12598474
|
0.36151
|
|
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)
|
rs412777
|
0.35874
|
|
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
|
rs3124299
|
0.34823
|
|
NM_014244.5(ADAMTS2):c.534+9G>C
|
rs2271213
|
0.33886
|
|
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=)
|
rs2271212
|
0.33047
|
|
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile)
|
rs398829
|
0.32945
|
|
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)
|
rs3812956
|
0.32763
|
|
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)
|
rs1130529
|
0.32745
|
|
NM_000093.5(COL5A1):c.4230+118C>T
|
rs7847840
|
0.32683
|
|
NM_000093.5(COL5A1):c.4176+9T>G
|
rs10858282
|
0.31743
|
|
NM_014244.5(ADAMTS2):c.*2396C>T
|
rs3797615
|
0.30656
|
|
NM_000093.5(COL5A1):c.1569+16A>G
|
rs12685946
|
0.29746
|
|
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)
|
rs240736
|
0.29412
|
|
NM_018699.4(PRDM5):c.681A>G (p.Leu227=)
|
rs343192
|
0.28756
|
|
NM_000089.4(COL1A2):c.1665+15A>G
|
rs421587
|
0.28734
|
|
NM_004612.4(TGFBR1):c.*884A>G
|
rs334348
|
0.28211
|
|
NM_001128225.3(SLC39A13):c.301+20C>T
|
rs755555
|
0.27982
|
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
|
NM_000093.5(COL5A1):c.1720-48T>C
|
rs10123014
|
0.27505
|
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
|
NM_001365276.2(TNXB):c.6842-24C>T
|
rs2239689
|
0.25409
|
|
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)
|
rs17421133
|
0.25264
|
|
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)
|
rs1800222
|
0.25224
|
|
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=)
|
rs2293576
|
0.25113
|
|
NM_014244.5(ADAMTS2):c.*1486C>A
|
rs1863918
|
0.24649
|
|
NM_000302.4(PLOD1):c.294C>T (p.Phe98=)
|
rs7529452
|
0.24445
|
|
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=)
|
rs1972715
|
0.24390
|
|
NM_014244.5(ADAMTS2):c.1952-82T>A
|
rs1549603
|
0.24380
|
|
NM_001367624.2(ZNF469):c.*8G>A
|
rs45504291
|
0.24166
|
|
NM_014244.5(ADAMTS2):c.2291-193G>A
|
rs2303645
|
0.23837
|
|
NM_014244.5(ADAMTS2):c.*1586A>G
|
rs888760
|
0.23763
|
|
NM_014244.5(ADAMTS2):c.1629+24G>C
|
rs2303637
|
0.23704
|
|
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser)
|
rs1054480
|
0.23682
|
|
NM_014244.5(ADAMTS2):c.*2951G>A
|
rs1044205
|
0.23671
|
|
NM_014244.5(ADAMTS2):c.*2952T>A
|
rs1044209
|
0.23661
|
|
NM_000090.4(COL3A1):c.3824-31C>A
|
rs10204508
|
0.23605
|
|
NM_000090.4(COL3A1):c.1978-11C>T
|
rs13306272
|
0.23521
|
|
NM_013352.4(DSE):c.74C>T (p.Thr25Ile)
|
rs10485183
|
0.23388
|
|
NM_000090.4(COL3A1):c.*799_*800del
|
rs13306265
|
0.23375
|
|
NM_000088.4(COL1A1):c.588+33T>C
|
rs35231764
|
0.22664
|
|
NM_000093.5(COL5A1):c.3475-42G>C
|
rs3811152
|
0.22492
|
|
NM_000093.5(COL5A1):c.1570-59T>C
|
rs12686426
|
0.22376
|
|
NM_014244.5(ADAMTS2):c.2959-17C>T
|
rs2303641
|
0.21622
|
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
|
NM_000093.5(COL5A1):c.1720-34C>T
|
rs73558067
|
0.20873
|
|
NM_000093.5(COL5A1):c.*894T>C
|
rs11103544
|
0.20603
|
|
NM_014244.5(ADAMTS2):c.1630-18T>C
|
rs2303638
|
0.20408
|
|
NM_000089.4(COL1A2):c.*194C>T
|
rs1060399
|
0.20320
|
|
NM_014244.5(ADAMTS2):c.1238+18G>A
|
rs2278222
|
0.20277
|
|
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=)
|
rs2278221
|
0.20236
|
|
NM_001128225.3(SLC39A13):c.301+15G>A
|
rs61000762
|
0.20155
|
|
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=)
|
rs12499000
|
0.19996
|
|
NM_000093.5(COL5A1):c.1332+25C>T
|
rs56385965
|
0.19286
|
|
NM_000093.5(COL5A1):c.4177-107T>C
|
rs7854010
|
0.19207
|
|
NM_014244.5(ADAMTS2):c.1132+135G>A
|
rs41285551
|
0.19040
|
|
NM_000088.4(COL1A1):c.3815-35T>C
|
rs2277632
|
0.18865
|
|
NM_014244.5(ADAMTS2):c.1776-26G>A
|
rs9286045
|
0.18560
|
|
NM_014244.5(ADAMTS2):c.1133-57C>T
|
rs4700784
|
0.18228
|
|
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=)
|
rs2303644
|
0.17766
|
|
NM_014244.5(ADAMTS2):c.858C>T (p.His286=)
|
rs66565583
|
0.17241
|
|
NM_004612.4(TGFBR1):c.*69A>G
|
rs868
|
0.17222
|
|
NM_000093.5(COL5A1):c.2431-25G>A
|
rs41310213
|
0.16712
|
|
NM_000090.4(COL3A1):c.1816-14G>C
|
rs7579815
|
0.15982
|
|
NM_000088.4(COL1A1):c.*744C>T
|
rs1061947
|
0.15959
|
|
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)
|
rs7579903
|
0.15955
|
|
NM_000093.5(COL5A1):c.1720-47C>T
|
rs79679217
|
0.15948
|
|
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)
|
rs190796582
|
0.15534
|
|
NM_000093.5(COL5A1):c.1827+45G>A
|
rs11103502
|
0.15221
|
|
NM_001365276.2(TNXB):c.2761T>G (p.Ser921Ala)
|
rs204900
|
0.14952
|
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
|
NM_000393.5(COL5A2):c.852+14C>T
|
rs56310996
|
0.14063
|
|
NM_000088.4(COL1A1):c.104-441G>T
|
rs1800012
|
0.13897
|
|
NM_000088.4(COL1A1):c.1930-14T>C
|
rs2696247
|
0.13425
|
|
NM_014244.5(ADAMTS2):c.1516-138A>G
|
rs11746123
|
0.13423
|
|
NM_001367624.2(ZNF469):c.*845T>C
|
rs7187709
|
0.13371
|
|
NM_000090.4(COL3A1):c.1293+15T>A
|
rs2271679
|
0.13320
|
|
NM_000093.5(COL5A1):c.1936-35C>A
|
rs10858278
|
0.13121
|
|
NM_014244.5(ADAMTS2):c.534+50T>C
|
rs2271214
|
0.13091
|
|
NM_000393.5(COL5A2):c.568-10G>A
|
rs58106884
|
0.13056
|
|
NM_000393.5(COL5A2):c.337-26T>C
|
rs56380683
|
0.13043
|
|
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser)
|
rs2269429
|
0.12889
|
|
NM_000088.4(COL1A1):c.*1011T>C
|
rs1061970
|
0.12435
|
|
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
|
rs1801182
|
0.12315
|
|
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala)
|
rs61897432
|
0.11400
|
|
NM_004370.6(COL12A1):c.8265+19A>T
|
rs9447445
|
0.11270
|
|
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=)
|
rs61472141
|
0.10977
|
|
NM_004370.6(COL12A1):c.1892-8_1892-6del
|
rs199713791
|
0.10881
|
|
NM_000093.5(COL5A1):c.3745-37G>A
|
rs45629034
|
0.10800
|
|
NM_000093.5(COL5A1):c.3745-18G>A
|
rs45556931
|
0.10766
|
|
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)
|
rs12085009
|
0.10007
|
|
NM_014244.5(ADAMTS2):c.*847C>T
|
rs78622875
|
0.09771
|
|
NM_014244.5(ADAMTS2):c.*853G>T
|
rs17666900
|
0.09770
|
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
|
NM_000089.4(COL1A2):c.*804G>T
|
rs1062394
|
0.09387
|
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
|
NM_000393.5(COL5A2):c.*1402T>G
|
rs11186
|
0.09269
|
|
NM_000093.5(COL5A1):c.2593-45G>A
|
rs45497895
|
0.08250
|
|
NM_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
|
NM_000090.4(COL3A1):c.1815+18A>G
|
rs28413125
|
0.08030
|
|
NM_000093.5(COL5A1):c.1569+15C>T
|
rs62574081
|
0.07860
|
|
NM_000088.4(COL1A1):c.859-14T>G
|
rs17639446
|
0.07746
|
|
NM_000393.5(COL5A2):c.*392T>C
|
rs1131518
|
0.07495
|
|
NM_000093.5(COL5A1):c.2646+27C>T
|
rs13301426
|
0.07414
|
|
NM_000393.5(COL5A2):c.*298G>A
|
rs7586
|
0.07221
|
|
NM_000093.5(COL5A1):c.110-34C>T
|
rs72772548
|
0.07019
|
|
NM_000093.5(COL5A1):c.*311C>T
|
rs1134114
|
0.06809
|
|
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu)
|
rs141218390
|
0.06780
|
|
NM_001367624.2(ZNF469):c.*907G>A
|
rs1048192
|
0.06751
|
|
NM_000393.5(COL5A2):c.315= (p.Thr105=)
|
rs4128539
|
0.06734
|
|
NM_001367624.2(ZNF469):c.*921_*922insG
|
rs11382974
|
0.06632
|
|
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)
|
rs61729545
|
0.06122
|
|
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val)
|
rs3812954
|
0.06060
|
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
|
NM_000393.5(COL5A2):c.*639G>A
|
rs73981487
|
0.05878
|
|
NM_000093.5(COL5A1):c.*1443G>A
|
rs10895
|
0.05700
|
|
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)
|
rs2230898
|
0.05658
|
|
NM_013352.4(DSE):c.1142T>C (p.Val381Ala)
|
rs41313440
|
0.05356
|
|
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val)
|
rs35710072
|
0.05341
|
|
NM_001128225.3(SLC39A13):c.83= (p.Glu28=)
|
rs2010519
|
0.05174
|
|
NM_000393.5(COL5A2):c.*1165G>A
|
rs13914
|
0.04890
|
|
NM_014244.5(ADAMTS2):c.2291-8A>G
|
rs140401199
|
0.04871
|
|
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=)
|
rs1800218
|
0.04610
|
|
NM_000093.5(COL5A1):c.4447-45G>A
|
rs3811147
|
0.04567
|
|
NM_013352.4(DSE):c.1926= (p.Asn642=)
|
rs560644
|
0.04562
|
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
|
NM_001365276.2(TNXB):c.7168+5G>A
|
rs204885
|
0.04539
|
|
NM_000093.5(COL5A1):c.2745+15A>T
|
rs79481146
|
0.04340
|
|
NM_000302.4(PLOD1):c.644-17T>G
|
rs41307745
|
0.04239
|
|
NM_000393.5(COL5A2):c.1311= (p.Pro437=)
|
rs2229495
|
0.04238
|
|
NM_014244.5(ADAMTS2):c.1383-22C>T
|
rs115740207
|
0.04147
|
|
NM_013352.4(DSE):c.101C>T (p.Pro34Leu)
|
rs35548455
|
0.04141
|
|
NM_014244.5(ADAMTS2):c.*2439C>T
|
rs78886769
|
0.04139
|
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
|
NM_000088.4(COL1A1):c.177G>T (p.Arg59=)
|
rs1057297
|
0.04003
|
|
NM_001365276.2(TNXB):c.5713G>A (p.Glu1905Lys)
|
rs17207923
|
0.03984
|
|
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=)
|
rs6869261
|
0.03924
|
|
NM_000093.5(COL5A1):c.3475-36A>C
|
rs13297647
|
0.03921
|
|
NM_000093.5(COL5A1):c.3528+43G>A
|
rs41306395
|
0.03911
|
|
NM_000393.5(COL5A2):c.3411= (p.Gly1137=)
|
rs6434312
|
0.03908
|
|
NM_000093.5(COL5A1):c.2700+46C>T
|
rs34636935
|
0.03889
|
|
NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly)
|
rs41270450
|
0.03853
|
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
|
NM_001367624.2(ZNF469):c.*634C>A
|
rs74032868
|
0.03588
|
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
|
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)
|
rs35523808
|
0.03556
|
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
|
NM_014244.5(ADAMTS2):c.2959-16G>A
|
rs6863024
|
0.03326
|
|
NM_001365276.2(TNXB):c.4241G>A (p.Arg1414Gln)
|
rs9267799
|
0.03318
|
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
|
NM_000302.4(PLOD1):c.*440G>C
|
rs11553681
|
0.03198
|
|
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)
|
rs78511105
|
0.03168
|
|
NM_013352.4(DSE):c.53G>T (p.Cys18Phe)
|
rs76186865
|
0.03160
|
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
|
NM_000089.4(COL1A2):c.3712-13C>T
|
rs74335369
|
0.03051
|
|
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=)
|
rs1862211
|
0.02988
|
|
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)
|
rs2228047
|
0.02974
|
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
|
NM_013352.4(DSE):c.844A>G (p.Ile282Val)
|
rs34994230
|
0.02817
|
|
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=)
|
rs35462609
|
0.02744
|
|
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr)
|
rs1800215
|
0.02714
|
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
|
NM_000302.4(PLOD1):c.177C>T (p.Gly59=)
|
rs34032489
|
0.02651
|
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
|
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=)
|
rs34424371
|
0.02621
|
|
NM_004370.6(COL12A1):c.4001-10G>A
|
rs73749974
|
0.02617
|
|
NM_000089.4(COL1A2):c.1878G>T (p.Val626=)
|
rs1800238
|
0.02599
|
|
NM_000093.5(COL5A1):c.*1562A>G
|
rs116561240
|
0.02592
|
|
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)
|
rs35445112
|
0.02575
|
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
|
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=)
|
rs2229102
|
0.02537
|
|
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
|
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
|
NM_000302.4(PLOD1):c.1329-20G>A
|
rs78527487
|
0.02519
|
|
NM_001365276.2(TNXB):c.7377C>T (p.Gly2459=)
|
rs59619270
|
0.02517
|
|
NM_001365276.2(TNXB):c.4332C>T (p.His1444=)
|
rs61998168
|
0.02515
|
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
|
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=)
|
rs35429515
|
0.02487
|
|
NM_000093.5(COL5A1):c.2232+36C>T
|
rs45622539
|
0.02468
|
|
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=)
|
rs148616993
|
0.02438
|
|
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)
|
rs75535959
|
0.02433
|
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
|
NM_018699.4(PRDM5):c.660G>A (p.Gln220=)
|
rs74320998
|
0.02419
|
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
|
NM_000090.4(COL3A1):c.*43A>G
|
rs8224
|
0.02368
|
|
NM_000093.5(COL5A1):c.*1642G>A
|
rs116053626
|
0.02360
|
|
NM_000093.5(COL5A1):c.*1922G>A
|
rs74979726
|
0.02332
|
|
NM_000302.4(PLOD1):c.*71C>G
|
rs2230899
|
0.02327
|
|
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
|
NM_000093.5(COL5A1):c.*724C>T
|
rs116156416
|
0.02219
|
|
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly)
|
rs59567206
|
0.02208
|
|
NM_000393.5(COL5A2):c.*2131T>A
|
rs113513554
|
0.02206
|
|
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
|
NM_001365276.2(TNXB):c.9641G>T (p.Gly3214Val)
|
rs9267795
|
0.02152
|
|
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)
|
rs115183769
|
0.02140
|
|
NM_000302.4(PLOD1):c.1788G>T (p.Val596=)
|
rs35460537
|
0.02126
|
|
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)
|
rs879691
|
0.02109
|
|
NM_007255.3(B4GALT7):c.828+20T>C
|
rs755873
|
0.02090
|
|
NM_000093.5(COL5A1):c.2034+24C>T
|
rs41298367
|
0.02041
|
|
NM_014244.5(ADAMTS2):c.*2918G>A
|
rs60250623
|
0.02037
|
|
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His)
|
rs79830915
|
0.02025
|
|
NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg)
|
rs17207895
|
0.02019
|
|
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=)
|
rs76442115
|
0.02017
|
|
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg)
|
rs75136873
|
0.02017
|
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
|
NM_000302.4(PLOD1):c.77-3407C>T
|
rs75220940
|
0.01953
|
|
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
|
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=)
|
rs17150692
|
0.01889
|
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
|
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
|
NM_001365276.2(TNXB):c.1734C>T (p.Asp578=)
|
rs41270458
|
0.01827
|
|
NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg)
|
rs61910712
|
0.01812
|
|
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg)
|
rs77490207
|
0.01795
|
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
|
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
|
NM_000089.4(COL1A2):c.82-12A>G
|
rs143689469
|
0.01736
|
|
NM_001365276.2(TNXB):c.5823C>T (p.Ser1941=)
|
rs116094055
|
0.01719
|
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
|
NM_000093.5(COL5A1):c.4955-16C>T
|
rs112712705
|
0.01710
|
|
NM_000093.5(COL5A1):c.5067+20C>G
|
rs112600748
|
0.01689
|
|
NM_001365276.2(TNXB):c.517G>A (p.Ala173Thr)
|
rs61746206
|
0.01620
|
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
|
NM_001365276.2(TNXB):c.11387-9T>C
|
rs2894233
|
0.01611
|
|
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro)
|
rs34846477
|
0.01603
|
|
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=)
|
rs36002196
|
0.01590
|
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
|
NM_000093.5(COL5A1):c.*1637C>A
|
rs148823980
|
0.01576
|
|
NM_000393.5(COL5A2):c.*1400A>G
|
rs12886
|
0.01556
|
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
|
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
|
NM_000093.5(COL5A1):c.*1806C>T
|
rs11556648
|
0.01480
|
|
NM_000093.5(COL5A1):c.5068-7T>C
|
rs113256540
|
0.01472
|
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
|
NM_004370.6(COL12A1):c.834T>G (p.Ala278=)
|
rs16886258
|
0.01455
|
|
NM_000093.5(COL5A1):c.*660G>A
|
rs73664168
|
0.01440
|
|
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=)
|
rs34767467
|
0.01428
|
|
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=)
|
rs77790445
|
0.01425
|
|
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=)
|
rs116691242
|
0.01422
|
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
|
NM_013352.4(DSE):c.1118+15G>A
|
rs116330739
|
0.01381
|
|
NM_000393.5(COL5A2):c.*1669G>A
|
rs76151083
|
0.01378
|
|
NM_000393.5(COL5A2):c.*2062G>A
|
rs77821675
|
0.01359
|
|
NM_000393.5(COL5A2):c.*1904C>T
|
rs75096234
|
0.01358
|
|
NM_000393.5(COL5A2):c.*423C>T
|
rs77413180
|
0.01358
|
|
NM_000393.5(COL5A2):c.*1960A>G
|
rs76482660
|
0.01355
|
|
NM_001365276.2(TNXB):c.3191G>A (p.Arg1064His)
|
rs61995676
|
0.01344
|
|
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
|
NM_000088.4(COL1A1):c.298+7C>A
|
rs41317345
|
0.01333
|
|
NM_001365276.2(TNXB):c.5679G>A (p.Thr1893=)
|
rs115612382
|
0.01326
|
|
NM_000089.4(COL1A2):c.*205A>G
|
rs6955879
|
0.01322
|
|
NM_001365276.2(TNXB):c.3419G>A (p.Gly1140Asp)
|
rs149995364
|
0.01305
|
|
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=)
|
rs58401704
|
0.01305
|
|
NM_000393.5(COL5A2):c.*1379A>G
|
rs114330868
|
0.01303
|
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
|
NM_004370.6(COL12A1):c.8650-19T>A
|
rs79461746
|
0.01255
|
|
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln)
|
rs35741412
|
0.01241
|
|
NM_000393.5(COL5A2):c.*515C>T
|
rs113311693
|
0.01221
|
|
NM_000393.5(COL5A2):c.*46C>A
|
rs112739705
|
0.01217
|
|
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=)
|
rs116696830
|
0.01217
|
|
NM_000093.5(COL5A1):c.925-44C>T
|
rs41302966
|
0.01210
|
|
NM_000393.5(COL5A2):c.403-16T>A
|
rs117085226
|
0.01199
|
|
NM_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
|
NM_007255.3(B4GALT7):c.413+12C>G
|
rs77537553
|
0.01194
|
|
NM_018699.4(PRDM5):c.*120T>C
|
rs77157999
|
0.01181
|
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
|
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu)
|
rs77094372
|
0.01163
|
|
NM_014244.5(ADAMTS2):c.*2196T>A
|
rs147985762
|
0.01159
|
|
NM_007255.3(B4GALT7):c.297G>T (p.Val99=)
|
rs114036939
|
0.01155
|
|
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)
|
rs74384633
|
0.01153
|
|
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp)
|
rs79155191
|
0.01148
|
|
NM_018699.4(PRDM5):c.491A>T (p.Lys164Ile)
|
rs146268537
|
0.01143
|
|
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=)
|
rs34619869
|
0.01132
|
|
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=)
|
rs117149938
|
0.01130
|
|
NM_000090.4(COL3A1):c.3525+19del
|
rs138061246
|
0.01120
|
|
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
|
NM_001365276.2(TNXB):c.9672G>A (p.Leu3224=)
|
rs61740331
|
0.01104
|
|
NM_001365276.2(TNXB):c.4848G>A (p.Gly1616=)
|
rs190967484
|
0.01043
|
|
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)
|
rs61744966
|
0.01027
|
|
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr)
|
rs28361051
|
0.01025
|
|
NM_001365276.2(TNXB):c.12469+2T>C
|
rs545719209
|
0.01022
|
|
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=)
|
rs34437036
|
0.01013
|
|
NM_001365276.2(TNXB):c.10607-19C>A
|
rs773540524
|
0.01008
|
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
|
NM_014244.5(ADAMTS2):c.*1819G>A
|
rs115989271
|
0.00991
|
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
|
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=)
|
rs76754323
|
0.00928
|
|
NM_014244.5(ADAMTS2):c.*1247C>T
|
rs77506744
|
0.00924
|
|
NM_000093.5(COL5A1):c.4699-6C>T
|
rs113090154
|
0.00923
|
|
NM_000090.4(COL3A1):c.80-16C>T
|
rs28763875
|
0.00914
|
|
NM_000089.3(COL1A2):c.-287C>T
|
rs190926256
|
0.00907
|
|
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg)
|
rs35372714
|
0.00904
|
|
NM_014244.5(ADAMTS2):c.*2301C>T
|
rs115104288
|
0.00902
|
|
NM_000093.5(COL5A1):c.*629A>G
|
rs150345666
|
0.00897
|
|
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
|
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)
|
rs147859144
|
0.00882
|
|
NM_000393.5(COL5A2):c.2661+20G>A
|
rs79623676
|
0.00876
|
|
NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln)
|
rs149502087
|
0.00876
|
|
NM_001365276.2(TNXB):c.9849G>A (p.Thr3283=)
|
rs147118175
|
0.00874
|
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
|
NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=)
|
rs61740712
|
0.00867
|
|
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
|
rs34369939
|
0.00867
|
|
NM_001367624.2(ZNF469):c.*665G>A
|
rs75706884
|
0.00863
|
|
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=)
|
rs143852982
|
0.00854
|
|
NM_000093.5(COL5A1):c.-110A>G
|
rs180741151
|
0.00852
|
|
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met)
|
rs139066376
|
0.00852
|
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
|
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)
|
rs6910390
|
0.00842
|
|
NM_000090.4(COL3A1):c.*34T>G
|
rs191843385
|
0.00838
|
|
NM_000302.4(PLOD1):c.77-3370G>A
|
rs112799470
|
0.00836
|
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
|
NM_018699.4(PRDM5):c.1273A>G (p.Ile425Val)
|
rs75893420
|
0.00830
|
|
NM_000093.5(COL5A1):c.5136+152C>T
|
rs113504942
|
0.00827
|
|
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His)
|
rs79339739
|
0.00810
|
|
NM_000393.5(COL5A2):c.-34C>T
|
rs114102476
|
0.00807
|
|
NM_000088.4(COL1A1):c.*1165C>G
|
rs149419718
|
0.00794
|
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
|
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)
|
rs61729558
|
0.00781
|
|
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=)
|
rs77425231
|
0.00776
|
|
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)
|
rs117038107
|
0.00776
|
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
|
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=)
|
rs61731454
|
0.00766
|
|
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)
|
rs74547407
|
0.00765
|
|
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)
|
rs116532825
|
0.00765
|
|
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=)
|
rs73806887
|
0.00764
|
|
NM_000302.4(PLOD1):c.302+15G>A
|
rs140227667
|
0.00760
|
|
NM_014244.5(ADAMTS2):c.*445G>A
|
rs73806886
|
0.00754
|
|
NM_014244.5(ADAMTS2):c.*534G>A
|
rs73806885
|
0.00754
|
|
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)
|
rs115487796
|
0.00752
|
|
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=)
|
rs138771545
|
0.00751
|
|
NM_014244.5(ADAMTS2):c.*1719T>C
|
rs56153390
|
0.00751
|
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
|
NM_000393.5(COL5A2):c.370-16C>T
|
rs148220961
|
0.00748
|
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
|
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=)
|
rs137930753
|
0.00731
|
|
NM_004370.6(COL12A1):c.6210+13C>T
|
rs139520272
|
0.00723
|
|
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val)
|
rs79330641
|
0.00719
|
|
NM_000090.4(COL3A1):c.583-8C>T
|
rs10166835
|
0.00713
|
|
NM_000090.4(COL3A1):c.*88C>T
|
rs11162
|
0.00708
|
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
|
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro)
|
rs150488251
|
0.00706
|
|
NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
|
NM_000393.5(COL5A2):c.2554-14A>G
|
rs142429770
|
0.00703
|
|
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=)
|
rs116213189
|
0.00697
|
|
NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=)
|
rs115065067
|
0.00690
|
|
NM_014244.5(ADAMTS2):c.*816C>T
|
rs116130524
|
0.00690
|
|
NM_000393.5(COL5A2):c.*476T>C
|
rs138670180
|
0.00689
|
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
|
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)
|
rs61737941
|
0.00682
|
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
|
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)
|
rs62001059
|
0.00679
|
|
NM_000093.5(COL5A1):c.5136+40A>G
|
rs183298179
|
0.00678
|
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
|
NM_000302.3(PLOD1):c.-77G>A
|
rs144465849
|
0.00649
|
|
NM_000090.4(COL3A1):c.1816-19T>C
|
rs114299724
|
0.00647
|
|
NM_000093.5(COL5A1):c.*283G>A
|
rs114171895
|
0.00635
|
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
|
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)
|
rs61737708
|
0.00634
|
|
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)
|
rs117555121
|
0.00632
|
|
NM_000090.4(COL3A1):c.*592T>A
|
rs115345151
|
0.00630
|
|
NM_000302.4(PLOD1):c.975+13C>T
|
rs79345327
|
0.00627
|
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
|
NM_000089.4(COL1A2):c.1036-12A>G
|
rs41316929
|
0.00613
|
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
|
NM_000088.4(COL1A1):c.*1175T>G
|
rs75713851
|
0.00595
|
|
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)
|
rs17207902
|
0.00594
|
|
NM_001367624.2(ZNF469):c.*264A>G
|
rs193210256
|
0.00591
|
|
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=)
|
rs113227277
|
0.00590
|
|
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=)
|
rs112581362
|
0.00587
|
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
|
NM_000093.5(COL5A1):c.*14C>T
|
rs12553247
|
0.00580
|
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00578
|
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
|
NM_000393.5(COL5A2):c.*798A>G
|
rs116775405
|
0.00567
|
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
|
NM_000093.5(COL5A1):c.*269C>T
|
rs372857096
|
0.00557
|
|
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)
|
rs118086587
|
0.00554
|
|
NM_013352.4(DSE):c.114C>T (p.Ala38=)
|
rs36061922
|
0.00553
|
|
NM_000093.5(COL5A1):c.4231-12G>A
|
rs188473199
|
0.00543
|
|
NM_001365276.2(TNXB):c.10018G>A (p.Gly3340Ser)
|
rs61737606
|
0.00542
|
|
NM_001365276.2(TNXB):c.12378C>T (p.Asp4126=)
|
rs11755562
|
0.00531
|
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
|
NM_001365276.2(TNXB):c.9072C>T (p.His3024=)
|
rs61729739
|
0.00518
|
|
NM_000088.4(COL1A1):c.*1233G>A
|
rs73987442
|
0.00516
|
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00515
|
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
|
NM_000093.5(COL5A1):c.5137-11T>C
|
rs183495554
|
0.00512
|
|
NM_000093.5(COL5A1):c.-37G>A
|
rs374979485
|
0.00508
|
|
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=)
|
rs35170847
|
0.00506
|
|
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)
|
rs35292916
|
0.00501
|
|
NM_000093.5(COL5A1):c.*190G>A
|
rs55748801
|
0.00500
|
|
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=)
|
rs80102965
|
0.00499
|
|
NM_000302.4(PLOD1):c.76+17C>T
|
rs113691754
|
0.00498
|
|
NM_000090.4(COL3A1):c.4059= (p.His1353=)
|
rs1516446
|
0.00491
|
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
|
NM_000393.5(COL5A2):c.*391A>G
|
rs143552248
|
0.00486
|
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
|
NM_013352.4(DSE):c.711G>C (p.Leu237=)
|
rs140034597
|
0.00484
|
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
|
NM_000093.5(COL5A1):c.4955-48G>A
|
rs60879388
|
0.00480
|
|
NM_000393.5(COL5A2):c.*1852T>C
|
rs116255986
|
0.00479
|
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
|
NM_000302.4(PLOD1):c.*614G>T
|
rs15431
|
0.00472
|
|
NM_000090.4(COL3A1):c.-80G>A
|
rs41265575
|
0.00470
|
|
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met)
|
rs111494864
|
0.00468
|
|
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)
|
rs78446958
|
0.00467
|
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
|
NM_000093.5(COL5A1):c.-382C>G
|
rs555826102
|
0.00465
|
|
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His)
|
rs150598363
|
0.00461
|
|
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=)
|
rs116708837
|
0.00461
|
|
NM_001365276.2(TNXB):c.5746A>G (p.Thr1916Ala)
|
rs17207916
|
0.00455
|
|
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)
|
rs142820961
|
0.00455
|
|
NM_014244.5(ADAMTS2):c.*977G>A
|
rs138084603
|
0.00451
|
|
NM_000089.4(COL1A2):c.*283T>C
|
rs114837909
|
0.00448
|
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
|
NM_000093.5(COL5A1):c.2799+13C>A
|
rs75668257
|
0.00443
|
|
NM_001367624.2(ZNF469):c.*599C>G
|
rs146233624
|
0.00440
|
|
NM_000088.4(COL1A1):c.750+12G>T
|
rs79480112
|
0.00434
|
|
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=)
|
rs148293104
|
0.00434
|
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
|
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
|
rs61757478
|
0.00427
|
|
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=)
|
rs192479136
|
0.00424
|
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
|
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=)
|
rs34830422
|
0.00420
|
|
NM_001365276.2(TNXB):c.6348C>T (p.Thr2116=)
|
rs143840297
|
0.00419
|
|
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala)
|
rs77654847
|
0.00419
|
|
NM_000393.5(COL5A2):c.*525A>G
|
rs10195176
|
0.00418
|
|
NM_001365276.2(TNXB):c.1837A>G (p.Ser613Gly)
|
rs61744970
|
0.00418
|
|
NM_001365276.2(TNXB):c.6683T>A (p.Phe2228Tyr)
|
rs3749960
|
0.00418
|
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
|
NM_014244.5(ADAMTS2):c.*2587T>C
|
rs140304884
|
0.00414
|
|
NM_000089.4(COL1A2):c.2349+16G>C
|
rs112603291
|
0.00405
|
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
|
NM_001365276.2(TNXB):c.2367G>A (p.Gly789=)
|
rs117182156
|
0.00399
|
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
|
NM_000393.5(COL5A2):c.*1076G>A
|
rs114123906
|
0.00382
|
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
|
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=)
|
rs186652137
|
0.00374
|
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
|
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg)
|
rs114755302
|
0.00371
|
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
|
NM_000089.4(COL1A2):c.*415T>G
|
rs148913603
|
0.00367
|
|
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=)
|
rs543846859
|
0.00365
|
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
|
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His)
|
rs182269913
|
0.00354
|
|
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr)
|
rs376054177
|
0.00353
|
|
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)
|
rs34038163
|
0.00352
|
|
NM_001734.5(C1S):c.943G>A (p.Asp315Asn)
|
rs117907409
|
0.00349
|
|
NM_004370.6(COL12A1):c.4000+5G>A
|
rs181257320
|
0.00349
|
|
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=)
|
rs140319205
|
0.00348
|
|
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=)
|
rs113549828
|
0.00347
|
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
|
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val)
|
rs562559927
|
0.00344
|
|
NM_000089.4(COL1A2):c.975A>T (p.Gly325=)
|
rs148063325
|
0.00340
|
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
|
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg)
|
rs183437633
|
0.00340
|
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
|
NM_001365276.2(TNXB):c.11417A>G (p.Gln3806Arg)
|
rs2395085
|
0.00337
|
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
|
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr)
|
rs144986357
|
0.00330
|
|
NM_014244.5(ADAMTS2):c.*1639C>T
|
rs138971097
|
0.00330
|
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
|
NM_001365276.2(TNXB):c.3445+8A>G
|
rs201624002
|
0.00326
|
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00324
|
|
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)
|
rs146120469
|
0.00321
|
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
|
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)
|
rs139528613
|
0.00310
|
|
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val)
|
rs112905680
|
0.00310
|
|
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu)
|
rs140770834
|
0.00309
|
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
|
NM_001365276.2(TNXB):c.2385A>G (p.Thr795=)
|
rs185461070
|
0.00300
|
|
NM_018699.4(PRDM5):c.1632G>A (p.Pro544=)
|
rs116026637
|
0.00299
|
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
|
NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser)
|
rs140530599
|
0.00296
|
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00288
|
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
|
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=)
|
rs539527724
|
0.00287
|
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
|
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=)
|
rs186035636
|
0.00283
|
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
|
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)
|
rs199519673
|
0.00279
|
|
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=)
|
rs189596398
|
0.00279
|
|
NM_001365276.2(TNXB):c.6544+8T>A
|
rs150379644
|
0.00278
|
|
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)
|
rs115511838
|
0.00278
|
|
NM_004370.6(COL12A1):c.6068-14T>A
|
rs189714891
|
0.00278
|
|
NM_013352.4(DSE):c.209G>A (p.Arg70His)
|
rs147683614
|
0.00278
|
|
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala)
|
rs139565761
|
0.00277
|
|
NM_001365276.2(TNXB):c.12058+15G>A
|
rs762839811
|
0.00275
|
|
NM_017946.4(FKBP14):c.349+16T>G
|
rs112323392
|
0.00272
|
|
NM_001733.7(C1R):c.336G>C (p.Met112Ile)
|
rs139531404
|
0.00271
|
|
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu)
|
rs35978122
|
0.00270
|
|
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser)
|
rs184894059
|
0.00268
|
|
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser)
|
rs573884006
|
0.00266
|
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
|
NM_000088.4(COL1A1):c.*1088G>A
|
rs191326459
|
0.00264
|
|
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg)
|
rs139332405
|
0.00262
|
|
NM_001365276.2(TNXB):c.10368C>T (p.Thr3456=)
|
rs116701346
|
0.00261
|
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
|
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn)
|
rs148065232
|
0.00261
|
|
NM_000090.4(COL3A1):c.3039+16T>G
|
rs41264443
|
0.00259
|
|
NM_000302.4(PLOD1):c.1902+13G>A
|
rs199765551
|
0.00259
|
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
|
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)
|
rs145158875
|
0.00255
|
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
|
NM_007255.3(B4GALT7):c.414-20G>A
|
rs138092105
|
0.00252
|
|
NM_014244.5(ADAMTS2):c.*2854T>C
|
rs11740156
|
0.00252
|
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
|
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=)
|
rs114884145
|
0.00244
|
|
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)
|
rs370919547
|
0.00243
|
|
NM_004370.6(COL12A1):c.4691-12G>A
|
rs146472530
|
0.00243
|
|
NM_000089.4(COL1A2):c.595-20C>T
|
rs192022673
|
0.00242
|
|
NM_000089.4(COL1A2):c.96+10C>T
|
rs185341110
|
0.00242
|
|
NM_014244.5(ADAMTS2):c.2958+20C>T
|
rs200469634
|
0.00242
|
|
NM_000093.5(COL5A1):c.110-19T>C
|
rs148294644
|
0.00239
|
|
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=)
|
rs61746872
|
0.00237
|
|
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)
|
rs141688356
|
0.00235
|
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
|
NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr)
|
rs756508366
|
0.00233
|
|
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln)
|
rs181887079
|
0.00232
|
|
NM_000088.4(COL1A1):c.-57G>A
|
rs2734278
|
0.00229
|
|
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=)
|
rs149961653
|
0.00229
|
|
NM_001367624.2(ZNF469):c.3773C>A (p.Ala1258Glu)
|
rs141255631
|
0.00228
|
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
|
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser)
|
rs141517088
|
0.00224
|
|
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)
|
rs532857190
|
0.00223
|
|
NM_000088.4(COL1A1):c.999C>T (p.Pro333=)
|
rs62637627
|
0.00222
|
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
|
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=)
|
rs78870279
|
0.00221
|
|
NM_000088.4(COL1A1):c.*548C>A
|
rs557681960
|
0.00220
|
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
|
NM_001367624.2(ZNF469):c.*420G>A
|
rs45532839
|
0.00219
|
|
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu)
|
rs148291843
|
0.00217
|
|
NM_001365276.2(TNXB):c.909C>G (p.Gly303=)
|
rs111244635
|
0.00214
|
|
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)
|
rs202188220
|
0.00214
|
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
|
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=)
|
rs34986695
|
0.00211
|
|
NM_017946.4(FKBP14):c.495G>A (p.Lys165=)
|
rs142474407
|
0.00211
|
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
|
NM_004370.6(COL12A1):c.1892-7T>A
|
rs779185109
|
0.00210
|
|
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=)
|
rs367547260
|
0.00208
|
|
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)
|
rs558108271
|
0.00208
|
|
NM_000093.5(COL5A1):c.*58C>T
|
rs56259444
|
0.00207
|
|
NM_001367624.2(ZNF469):c.*421G>T
|
rs148260049
|
0.00207
|
|
NM_001365276.2(TNXB):c.8598C>T (p.Val2866=)
|
rs141752970
|
0.00202
|
|
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)
|
rs568623476
|
0.00202
|
|
NM_001365276.2(TNXB):c.5937C>T (p.Thr1979=)
|
rs3749963
|
0.00200
|
|
NM_001365276.2(TNXB):c.9438G>A (p.Thr3146=)
|
rs202162469
|
0.00200
|
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
|
NM_001365276.2(TNXB):c.6513C>T (p.Arg2171=)
|
rs117336748
|
0.00198
|
|
NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr)
|
rs373158501
|
0.00198
|
|
NM_001365276.2(TNXB):c.9643G>A (p.Glu3215Lys)
|
rs2075563
|
0.00198
|
|
NM_001365276.2(TNXB):c.4885G>A (p.Glu1629Lys)
|
rs78493656
|
0.00197
|
|
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)
|
rs201943633
|
0.00196
|
|
NM_130468.4(CHST14):c.288G>A (p.Arg96=)
|
rs371684007
|
0.00195
|
|
NM_000090.4(COL3A1):c.*828G>T
|
rs372150712
|
0.00194
|
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
|
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly)
|
rs147227015
|
0.00193
|
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
|
NM_000393.5(COL5A2):c.-50C>T
|
rs183260194
|
0.00192
|
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
|
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=)
|
rs368507303
|
0.00190
|
|
NM_001367624.2(ZNF469):c.*518G>A
|
rs563015267
|
0.00189
|
|
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu)
|
rs76389306
|
0.00188
|
|
NM_000090.4(COL3A1):c.*674G>A
|
rs190903102
|
0.00185
|
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
|
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)
|
rs147438064
|
0.00184
|
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
|
NM_000089.4(COL1A2):c.*605A>G
|
rs537557756
|
0.00181
|
|
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)
|
rs138954293
|
0.00180
|
|
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)
|
rs35363262
|
0.00180
|
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
|
NM_001365276.2(TNXB):c.4444G>A (p.Val1482Met)
|
rs61740336
|
0.00179
|
|
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys)
|
rs200668806
|
0.00179
|
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
|
NM_014244.5(ADAMTS2):c.689-18G>A
|
rs202114393
|
0.00177
|
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
|
NM_000093.5(COL5A1):c.277+6T>G
|
rs201910803
|
0.00174
|
|
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=)
|
rs146146364
|
0.00173
|
|
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=)
|
rs190501064
|
0.00173
|
|
NM_017946.4(FKBP14):c.330C>T (p.Gly110=)
|
rs148034796
|
0.00173
|
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
|
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=)
|
rs74949176
|
0.00170
|
|
NM_001367624.2(ZNF469):c.1953G>A (p.Pro651=)
|
rs564837770
|
0.00170
|
|
NM_001365276.2(TNXB):c.5136C>T (p.Asp1712=)
|
rs140160519
|
0.00169
|
|
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn)
|
rs758419331
|
0.00169
|
|
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln)
|
rs73428220
|
0.00167
|
|
NM_001365276.2(TNXB):c.2811C>A (p.Thr937=)
|
rs140665128
|
0.00166
|
|
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg)
|
rs201638755
|
0.00166
|
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
|
NM_013352.4(DSE):c.216G>A (p.Thr72=)
|
rs61747210
|
0.00164
|
|
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)
|
rs79632685
|
0.00162
|
|
NM_000093.5(COL5A1):c.-199C>T
|
rs183791719
|
0.00162
|
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
|
NM_001365276.2(TNXB):c.7633C>T (p.Pro2545Ser)
|
rs201415015
|
0.00162
|
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
|
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=)
|
rs201266825
|
0.00159
|
|
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)
|
rs2271683
|
0.00158
|
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
|
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)
|
rs140975523
|
0.00153
|
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
|
NM_000088.4(COL1A1):c.*378C>G
|
rs148131473
|
0.00150
|
|
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
|
rs142476892
|
0.00150
|
|
NM_014244.5(ADAMTS2):c.*2141G>T
|
rs77882118
|
0.00149
|
|
NM_000093.5(COL5A1):c.*2429T>C
|
rs56031840
|
0.00148
|
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
|
NM_014244.5(ADAMTS2):c.*1361A>G
|
rs142875628
|
0.00148
|
|
NM_017946.4(FKBP14):c.375G>C (p.Leu125=)
|
rs143268242
|
0.00148
|
|
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln)
|
rs181511246
|
0.00147
|
|
NM_000090.4(COL3A1):c.*923A>T
|
rs146222772
|
0.00146
|
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
|
NM_001367624.2(ZNF469):c.1913C>T (p.Pro638Leu)
|
rs572690908
|
0.00146
|
|
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=)
|
rs533300920
|
0.00145
|
|
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr)
|
rs200317239
|
0.00141
|
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
|
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)
|
rs142951817
|
0.00140
|
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
|
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)
|
rs142409885
|
0.00139
|
|
NM_001365276.2(TNXB):c.10046-4C>T
|
rs41267134
|
0.00138
|
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
|
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile)
|
rs536586591
|
0.00135
|
|
NM_001367624.2(ZNF469):c.726C>T (p.Ser242=)
|
rs555256402
|
0.00135
|
|
NM_014244.5(ADAMTS2):c.1512G>A (p.Thr504=)
|
rs141369064
|
0.00135
|
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00131
|
|
NM_000393.5(COL5A2):c.33C>T (p.Leu11=)
|
rs140108893
|
0.00130
|
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
|
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=)
|
rs151173863
|
0.00129
|
|
NM_000393.5(COL5A2):c.3039+15C>T
|
rs114619770
|
0.00125
|
|
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln)
|
rs202113575
|
0.00125
|
|
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu)
|
rs200646131
|
0.00125
|
|
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)
|
rs201166370
|
0.00124
|
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
|
NM_014244.5(ADAMTS2):c.*2853G>A
|
rs565652629
|
0.00121
|
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
rs146789395
|
0.00119
|
|
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)
|
rs148786600
|
0.00118
|
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
|
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr)
|
rs199673248
|
0.00118
|
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
|
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=)
|
rs138436047
|
0.00116
|
|
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)
|
rs61741781
|
0.00116
|
|
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)
|
rs536725615
|
0.00115
|
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
|
NM_000089.4(COL1A2):c.582T>G (p.Ala194=)
|
rs144540908
|
0.00113
|
|
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)
|
rs139653501
|
0.00113
|
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
|
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)
|
rs200408101
|
0.00111
|
|
NM_130468.4(CHST14):c.210C>T (p.Pro70=)
|
rs191997027
|
0.00111
|
|
NM_000393.5(COL5A2):c.*436A>G
|
rs149313073
|
0.00110
|
|
NM_001999.4(FBN2):c.5353+10C>T
|
rs113589974
|
0.00110
|
|
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)
|
rs892958562
|
0.00109
|
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
|
NM_001128225.3(SLC39A13):c.416-13C>T
|
rs373723938
|
0.00108
|
|
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met)
|
rs2271211
|
0.00108
|
|
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
0.00108
|
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
|
NM_000093.5(COL5A1):c.924+13C>T
|
rs199836060
|
0.00106
|
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
|
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)
|
rs191234581
|
0.00106
|
|
NM_001367624.2(ZNF469):c.10710G>A (p.Ala3570=)
|
rs548910839
|
0.00106
|
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
|
NM_001128225.3(SLC39A13):c.406G>A (p.Ala136Thr)
|
rs141246142
|
0.00105
|
|
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)
|
rs199727625
|
0.00104
|
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
|
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=)
|
rs376379111
|
0.00103
|
|
NM_004370.6(COL12A1):c.7355-9A>G
|
rs145346828
|
0.00103
|
|
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=)
|
rs371949188
|
0.00103
|
|
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=)
|
rs144797464
|
0.00103
|
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
|
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)
|
rs1801167
|
0.00102
|
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
|
NM_000088.4(COL1A1):c.2613+14G>A
|
rs41316685
|
0.00101
|
|
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)
|
rs78215347
|
0.00101
|
|
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)
|
rs373162171
|
0.00101
|
|
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val)
|
rs41266763
|
0.00101
|
|
NM_004370.6(COL12A1):c.8179-10A>G
|
rs142509363
|
0.00101
|
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
|
NM_014244.5(ADAMTS2):c.2958+4C>T
|
rs375345961
|
0.00100
|
|
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)
|
rs145109914
|
0.00097
|
|
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys)
|
rs201690494
|
0.00096
|
|
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg)
|
rs41269303
|
0.00096
|
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
|
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)
|
rs273585618
|
0.00093
|
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
|
NM_014244.5(ADAMTS2):c.689-19C>T
|
rs201779376
|
0.00093
|
|
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
|
rs113452150
|
0.00092
|
|
NM_000302.4(PLOD1):c.2028+8G>T
|
rs181951731
|
0.00092
|
|
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
|
rs199932922
|
0.00092
|
|
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=)
|
rs752790963
|
0.00092
|
|
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)
|
rs554795578
|
0.00090
|
|
NM_000093.5(COL5A1):c.*1343A>G
|
rs77145856
|
0.00088
|
|
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)
|
rs200519530
|
0.00088
|
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
|
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)
|
rs139788610
|
0.00087
|
|
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)
|
rs149616140
|
0.00087
|
|
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)
|
rs148590409
|
0.00087
|
|
NM_001128225.3(SLC39A13):c.646-7T>C
|
rs140597965
|
0.00087
|
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
|
NM_000093.5(COL5A1):c.3528+14C>T
|
rs371865645
|
0.00086
|
|
NM_000302.4(PLOD1):c.843+17G>C
|
rs201244598
|
0.00086
|
|
NM_001365276.2(TNXB):c.7866C>T (p.Thr2622=)
|
rs4711284
|
0.00086
|
|
NM_004370.6(COL12A1):c.8753-19G>A
|
rs185465645
|
0.00086
|
|
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)
|
rs141650732
|
0.00086
|
|
NM_000093.5(COL5A1):c.*187C>T
|
rs565085023
|
0.00085
|
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)
|
rs149212775
|
0.00083
|
|
NM_004370.6(COL12A1):c.4958-7A>C
|
rs1332779
|
0.00083
|
|
NM_014244.5(ADAMTS2):c.*2598A>G
|
rs371733200
|
0.00083
|
|
NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn)
|
rs1254121532
|
0.00082
|
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
|
NM_001365276.2(TNXB):c.1952T>C (p.Met651Thr)
|
rs200369087
|
0.00081
|
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
|
NM_014244.5(ADAMTS2):c.*1573A>C
|
rs560216364
|
0.00080
|
|
NM_007255.3(B4GALT7):c.51-14C>T
|
rs202024448
|
0.00079
|
|
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser)
|
rs533944505
|
0.00078
|
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
|
NM_018699.3(PRDM5):c.-234C>T
|
rs111704622
|
0.00077
|
|
NM_000302.4(PLOD1):c.776G>A (p.Arg259His)
|
rs144226170
|
0.00076
|
|
NM_000393.5(COL5A2):c.*848T>C
|
rs72902303
|
0.00076
|
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
|
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp)
|
rs201647307
|
0.00076
|
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
|
NM_007255.3(B4GALT7):c.723+20G>A
|
rs199543624
|
0.00074
|
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
|
NM_000093.5(COL5A1):c.*865T>A
|
rs910306671
|
0.00073
|
|
NM_000302.4(PLOD1):c.976-16C>T
|
rs142329815
|
0.00073
|
|
NM_000393.5(COL5A2):c.2931+11C>T
|
rs184002749
|
0.00073
|
|
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu)
|
rs183760368
|
0.00073
|
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
|
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)
|
rs200153921
|
0.00073
|
|
NM_014244.5(ADAMTS2):c.*183T>C
|
rs184732586
|
0.00073
|
|
NM_000089.4(COL1A2):c.1971+18T>C
|
rs41317174
|
0.00072
|
|
NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=)
|
rs758424441
|
0.00072
|
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
|
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met)
|
rs148810173
|
0.00072
|
|
NM_018699.3(PRDM5):c.-172C>T
|
rs558723351
|
0.00072
|
|
NM_000089.4(COL1A2):c.1405-16A>G
|
rs73428205
|
0.00071
|
|
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)
|
rs143858735
|
0.00071
|
|
NM_004370.6(COL12A1):c.2711-15T>C
|
rs74331327
|
0.00071
|
|
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=)
|
rs200230227
|
0.00071
|
|
NM_004370.6(COL12A1):c.997+14G>A
|
rs201998466
|
0.00071
|
|
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr)
|
rs147868179
|
0.00070
|
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
|
NM_001365276.2(TNXB):c.9946G>A (p.Ala3316Thr)
|
rs201452909
|
0.00070
|
|
NM_001367624.2(ZNF469):c.4599A>C (p.Thr1533=)
|
rs142246629
|
0.00070
|
|
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)
|
rs200070902
|
0.00070
|
|
NM_004370.6(COL12A1):c.8941+18C>T
|
rs368092763
|
0.00070
|
|
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp)
|
rs146228268
|
0.00070
|
|
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)
|
rs138544681
|
0.00069
|
|
NM_000090.3(COL3A1):c.-118T>G
|
rs549951495
|
0.00069
|
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
|
NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr)
|
rs201121030
|
0.00068
|
|
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg)
|
rs772817384
|
0.00068
|
|
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=)
|
rs573582117
|
0.00068
|
|
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=)
|
rs1800253
|
0.00067
|
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
|
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu)
|
rs185207099
|
0.00067
|
|
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln)
|
rs34438461
|
0.00067
|
|
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=)
|
rs184663595
|
0.00067
|
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
|
NM_000093.5(COL5A1):c.252C>T (p.Ser84=)
|
rs151293601
|
0.00066
|
|
NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
|
rs142832916
|
0.00066
|
|
NM_014244.5(ADAMTS2):c.*1919T>G
|
rs574968586
|
0.00066
|
|
NM_014244.5(ADAMTS2):c.*707A>G
|
rs149592164
|
0.00066
|
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
|
NM_000093.5(COL5A1):c.3115-14G>A
|
rs368945793
|
0.00065
|
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
|
NM_001367624.2(ZNF469):c.*1071A>T
|
rs536887736
|
0.00065
|
|
NM_004370.6(COL12A1):c.190+14C>G
|
rs536848485
|
0.00065
|
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
|
NM_000093.5(COL5A1):c.-364G>C
|
rs780212970
|
0.00064
|
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
|
NM_001367624.2(ZNF469):c.1406G>C (p.Ser469Thr)
|
rs770926082
|
0.00063
|
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00063
|
|
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val)
|
rs76704342
|
0.00063
|
|
NM_014244.5(ADAMTS2):c.732C>T (p.Gly244=)
|
rs143069972
|
0.00063
|
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
|
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr)
|
rs146632722
|
0.00062
|
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
|
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)
|
rs150539264
|
0.00061
|
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
|
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr)
|
rs138998777
|
0.00061
|
|
NM_001365276.2(TNXB):c.10111G>A (p.Val3371Met)
|
rs201155046
|
0.00061
|
|
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)
|
rs121912575
|
0.00061
|
|
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=)
|
rs2242569
|
0.00061
|
|
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys)
|
rs200693552
|
0.00061
|
|
NM_014244.5(ADAMTS2):c.*524G>A
|
rs565021011
|
0.00061
|
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
|
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)
|
rs201547600
|
0.00061
|
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
|
NM_000393.5(COL5A2):c.2770-5A>G
|
rs370313198
|
0.00060
|
|
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln)
|
rs184878358
|
0.00060
|
|
NM_003238.6(TGFB2):c.-5A>T
|
rs200702935
|
0.00060
|
|
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val)
|
rs117187367
|
0.00060
|
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
|
NM_001365276.2(TNXB):c.7492+8G>A
|
rs191329297
|
0.00059
|
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
|
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile)
|
rs147940796
|
0.00058
|
|
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=)
|
rs143318792
|
0.00058
|
|
NM_001365276.2(TNXB):c.6972G>A (p.Thr2324=)
|
rs202133293
|
0.00058
|
|
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)
|
rs771000169
|
0.00058
|
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
|
NM_000093.5(COL5A1):c.*2485G>A
|
rs146334187
|
0.00057
|
|
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
|
NM_001365276.2(TNXB):c.10151C>G (p.Ser3384Cys)
|
rs200580526
|
0.00057
|
|
NM_000093.5(COL5A1):c.2700+16C>T
|
rs371771646
|
0.00056
|
|
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val)
|
rs201397168
|
0.00056
|
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
|
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)
|
rs148737409
|
0.00054
|
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
|
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)
|
rs147008954
|
0.00054
|
|
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn)
|
rs201764050
|
0.00054
|
|
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)
|
rs138514914
|
0.00054
|
|
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)
|
rs141593495
|
0.00054
|
|
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=)
|
rs150079799
|
0.00054
|
|
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)
|
rs146222244
|
0.00054
|
|
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)
|
rs149790711
|
0.00053
|
|
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu)
|
rs575866552
|
0.00053
|
|
NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys)
|
rs181699780
|
0.00053
|
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
|
NM_014244.5(ADAMTS2):c.*288G>A
|
rs59090242
|
0.00053
|
|
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=)
|
rs149253571
|
0.00053
|
|
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=)
|
rs139165192
|
0.00052
|
|
NM_000302.4(PLOD1):c.1584+17C>T
|
rs200962113
|
0.00052
|
|
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly)
|
rs536054902
|
0.00052
|
|
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)
|
rs376513000
|
0.00052
|
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
|
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg)
|
rs149649831
|
0.00052
|
|
NM_000089.4(COL1A2):c.595-16A>G
|
rs143041120
|
0.00051
|
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
|
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)
|
rs202227084
|
0.00051
|
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
|
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=)
|
rs374962362
|
0.00051
|
|
NM_013352.4(DSE):c.1173G>A (p.Leu391=)
|
rs146663575
|
0.00051
|
|
NM_013352.4(DSE):c.1653G>A (p.Leu551=)
|
rs147124340
|
0.00051
|
|
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)
|
rs34781844
|
0.00050
|
|
NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys)
|
rs202211608
|
0.00050
|
|
NM_001365276.2(TNXB):c.9421T>A (p.Ser3141Thr)
|
rs200416489
|
0.00050
|
|
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=)
|
rs775513309
|
0.00050
|
|
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=)
|
rs373668725
|
0.00050
|
|
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr)
|
rs756778483
|
0.00049
|
|
NM_001365276.2(TNXB):c.6608G>A (p.Arg2203Lys)
|
rs150876029
|
0.00049
|
|
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met)
|
rs539550777
|
0.00049
|
|
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=)
|
rs764487066
|
0.00049
|
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
|
NM_004370.6(COL12A1):c.7950+18T>G
|
rs141529820
|
0.00049
|
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
|
NM_001365276.2(TNXB):c.9333C>T (p.Asp3111=)
|
rs201708930
|
0.00048
|
|
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00048
|
|
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)
|
rs117222015
|
0.00048
|
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
0.00047
|
|
NM_000393.5(COL5A2):c.798+10C>T
|
rs368165817
|
0.00047
|
|
NM_001365276.2(TNXB):c.12352A>T (p.Met4118Leu)
|
rs766874405
|
0.00047
|
|
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=)
|
rs148934769
|
0.00047
|
|
NM_001365276.2(TNXB):c.8484A>C (p.Ala2828=)
|
rs367949241
|
0.00047
|
|
NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=)
|
rs190855421
|
0.00047
|
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
|
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)
|
rs147044263
|
0.00047
|
|
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=)
|
rs200124872
|
0.00047
|
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
|
NM_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
|
NM_001128225.3(SLC39A13):c.696C>T (p.His232=)
|
rs371961000
|
0.00046
|
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
|
NM_014244.5(ADAMTS2):c.*813G>C
|
rs577299266
|
0.00046
|
|
NM_017946.4(FKBP14):c.123G>A (p.Lys41=)
|
rs149485427
|
0.00046
|
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
|
NM_000088.4(COL1A1):c.*981G>C
|
rs574167621
|
0.00045
|
|
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=)
|
rs111683983
|
0.00045
|
|
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)
|
rs565765056
|
0.00045
|
|
NM_000393.5(COL5A2):c.322+18C>G
|
rs201708256
|
0.00045
|
|
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)
|
rs763826959
|
0.00045
|
|
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr)
|
rs557997233
|
0.00045
|
|
NM_001367624.2(ZNF469):c.8695G>A (p.Gly2899Ser)
|
rs202129382
|
0.00045
|
|
NM_001733.7(C1R):c.277G>T (p.Gly93Cys)
|
rs200185988
|
0.00045
|
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
|
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)
|
rs200029869
|
0.00045
|
|
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=)
|
rs149391669
|
0.00045
|
|
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)
|
rs376811907
|
0.00045
|
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
|
NM_000088.4(COL1A1):c.3424-6C>A
|
rs370865189
|
0.00044
|
|
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00044
|
|
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)
|
rs546361762
|
0.00044
|
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
|
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp)
|
rs369143302
|
0.00043
|
|
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)
|
rs575820215
|
0.00043
|
|
NM_001734.5(C1S):c.100A>G (p.Ser34Gly)
|
rs148105120
|
0.00043
|
|
NM_004370.6(COL12A1):c.597A>G (p.Gln199=)
|
rs368715192
|
0.00043
|
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
|
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)
|
rs201037895
|
0.00042
|
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
|
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)
|
rs201852681
|
0.00042
|
|
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)
|
rs199702595
|
0.00042
|
|
NM_000093.5(COL5A1):c.*42C>G
|
rs374547961
|
0.00041
|
|
NM_000093.5(COL5A1):c.2089-9C>T
|
rs181246690
|
0.00041
|
|
NM_000093.5(COL5A1):c.924+14G>A
|
rs200595318
|
0.00041
|
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
|
NM_001110556.2(FLNA):c.3207+14G>A
|
rs200710010
|
0.00041
|
|
NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His)
|
rs41270454
|
0.00041
|
|
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)
|
rs750481489
|
0.00041
|
|
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)
|
rs199724285
|
0.00041
|
|
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)
|
rs1131691530
|
0.00041
|
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
|
NM_000393.5(COL5A2):c.-96G>T
|
rs28384400
|
0.00040
|
|
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
|
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)
|
rs200201449
|
0.00040
|
|
NM_014244.5(ADAMTS2):c.-13C>A
|
rs886060499
|
0.00040
|
|
NM_014244.5(ADAMTS2):c.2085+11A>G
|
rs139255728
|
0.00040
|
|
NM_000088.4(COL1A1):c.-66G>A
|
rs565562045
|
0.00039
|
|
NM_000093.5(COL5A1):c.*55G>A
|
rs533831376
|
0.00039
|
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
|
NM_001365276.2(TNXB):c.8468-1G>A
|
rs200718357
|
0.00039
|
|
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=)
|
rs200496785
|
0.00039
|
|
NM_004370.6(COL12A1):c.1892-7_1892-6del
|
rs1491398037
|
0.00039
|
|
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=)
|
rs190018580
|
0.00039
|
|
NM_005902.4(SMAD3):c.66G>A (p.Glu22=)
|
rs187952791
|
0.00039
|
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
|
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)
|
rs41317351
|
0.00038
|
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
|
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=)
|
rs147292897
|
0.00038
|
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
|
NM_000093.5(COL5A1):c.3690+6T>A
|
rs375998368
|
0.00038
|
|
NM_000302.4(PLOD1):c.1756-13C>T
|
rs370882934
|
0.00038
|
|
NM_000393.5(COL5A2):c.*904A>C
|
rs778818824
|
0.00038
|
|
NM_000393.5(COL5A2):c.3310-17T>A
|
rs201791446
|
0.00038
|
|
NM_000393.5(COL5A2):c.745-13G>A
|
rs145442880
|
0.00038
|
|
NM_003238.6(TGFB2):c.588C>T (p.Gly196=)
|
rs192335285
|
0.00038
|
|
NM_018699.4(PRDM5):c.743+14G>A
|
rs185567213
|
0.00038
|
|
NM_000093.5(COL5A1):c.*424A>G
|
rs574355137
|
0.00037
|
|
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)
|
rs138251296
|
0.00037
|
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
|
NM_001367624.2(ZNF469):c.6696C>T (p.Ser2232=)
|
rs377506846
|
0.00037
|
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
|
NM_000088.4(COL1A1):c.*1087C>T
|
rs557843360
|
0.00036
|
|
NM_000090.4(COL3A1):c.*467T>A
|
rs886055341
|
0.00036
|
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
|
NM_001365276.2(TNXB):c.9255C>G (p.Gly3085=)
|
rs368339464
|
0.00036
|
|
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn)
|
rs373777402
|
0.00036
|
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
|
NM_014244.5(ADAMTS2):c.*2397G>A
|
rs117141618
|
0.00036
|
|
NM_014244.5(ADAMTS2):c.525C>T (p.Cys175=)
|
rs140167371
|
0.00036
|
|
NM_018699.4(PRDM5):c.1189-14T>C
|
rs375296023
|
0.00036
|
|
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=)
|
rs562616873
|
0.00036
|
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
|
NM_001365276.2(TNXB):c.8300C>T (p.Thr2767Ile)
|
rs201649053
|
0.00035
|
|
NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser)
|
rs200708257
|
0.00035
|
|
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)
|
rs185171880
|
0.00035
|
|
NM_014244.5(ADAMTS2):c.*2595C>T
|
rs188054405
|
0.00035
|
|
NM_000093.5(COL5A1):c.*479G>A
|
rs184272423
|
0.00034
|
|
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)
|
rs149959668
|
0.00034
|
|
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val)
|
rs145175057
|
0.00034
|
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
|
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=)
|
rs139468110
|
0.00034
|
|
NM_000302.4(PLOD1):c.608G>A (p.Arg203His)
|
rs145482271
|
0.00034
|
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00034
|
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
|
NM_001999.4(FBN2):c.3087C>T (p.Val1029=)
|
rs777392642
|
0.00034
|
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
|
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=)
|
rs202153313
|
0.00034
|
|
NM_004370.6(COL12A1):c.132A>G (p.Ser44=)
|
rs201454637
|
0.00034
|
|
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
|
rs184585202
|
0.00034
|
|
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn)
|
rs201567848
|
0.00034
|
|
NM_004370.6(COL12A1):c.8320-19T>C
|
rs369006332
|
0.00034
|
|
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)
|
rs778572930
|
0.00034
|
|
NM_000088.4(COL1A1):c.*631G>A
|
rs569577942
|
0.00033
|
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
|
NM_004370.6(COL12A1):c.3954A>T (p.Ala1318=)
|
rs200346099
|
0.00033
|
|
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)
|
rs151324784
|
0.00033
|
|
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)
|
rs201988277
|
0.00033
|
|
NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn)
|
rs138399615
|
0.00033
|
|
NM_000088.4(COL1A1):c.588+16G>A
|
rs191715075
|
0.00032
|
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
|
NM_000093.5(COL5A1):c.5370+11C>T
|
rs764644830
|
0.00032
|
|
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)
|
rs373165011
|
0.00032
|
|
NM_000393.5(COL5A2):c.*446G>A
|
rs570467727
|
0.00032
|
|
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
0.00032
|
|
NM_001734.5(C1S):c.979G>C (p.Val327Leu)
|
rs2239170
|
0.00032
|
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
|
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.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
|
NM_000093.5(COL5A1):c.3006+17C>T
|
rs140528268
|
0.00031
|
|
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=)
|
rs370349155
|
0.00031
|
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
|
NM_000393.5(COL5A2):c.2230-16T>A
|
rs375334470
|
0.00031
|
|
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
|
rs150092345
|
0.00031
|
|
NM_000393.5(COL5A2):c.98-13T>A
|
rs376487446
|
0.00031
|
|
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)
|
rs201922477
|
0.00031
|
|
NM_001365276.2(TNXB):c.7995G>A (p.Gly2665=)
|
rs374115665
|
0.00031
|
|
NM_001367624.2(ZNF469):c.1689C>T (p.Phe563=)
|
rs751136702
|
0.00031
|
|
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=)
|
rs371897217
|
0.00031
|
|
NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val)
|
rs139043003
|
0.00031
|
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00031
|
|
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp)
|
rs41284943
|
0.00031
|
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
|
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His)
|
rs142515463
|
0.00030
|
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
|
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu)
|
rs145307365
|
0.00029
|
|
NM_000089.4(COL1A2):c.138A>C (p.Pro46=)
|
rs148639088
|
0.00029
|
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
|
NM_000302.4(PLOD1):c.1471-9C>G
|
rs376476977
|
0.00029
|
|
NM_000393.5(COL5A2):c.1923+8T>C
|
rs191193125
|
0.00029
|
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
|
NM_001128225.3(SLC39A13):c.415+17G>A
|
rs375059400
|
0.00029
|
|
NM_001128225.3(SLC39A13):c.792C>T (p.Gly264=)
|
rs141753455
|
0.00029
|
|
NM_001365276.2(TNXB):c.5084C>T (p.Thr1695Met)
|
rs201973085
|
0.00029
|
|
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg)
|
rs559625962
|
0.00029
|
|
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)
|
rs757999676
|
0.00029
|
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
|
NM_013352.4(DSE):c.1004G>A (p.Arg335His)
|
rs371480627
|
0.00029
|
|
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His)
|
rs201998372
|
0.00029
|
|
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)
|
rs368078922
|
0.00029
|
|
NM_000088.4(COL1A1):c.*836C>T
|
rs527358320
|
0.00028
|
|
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)
|
rs41317725
|
0.00028
|
|
NM_000093.5(COL5A1):c.2331+16G>A
|
rs199654385
|
0.00028
|
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
|
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe)
|
rs61995938
|
0.00028
|
|
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu)
|
rs562264117
|
0.00028
|
|
NM_007255.3(B4GALT7):c.564G>A (p.Pro188=)
|
rs115756833
|
0.00028
|
|
NM_007255.3(B4GALT7):c.723+19C>T
|
rs374080326
|
0.00028
|
|
NM_014244.5(ADAMTS2):c.1383-15G>A
|
rs373540125
|
0.00028
|
|
NM_017946.4(FKBP14):c.350-8C>T
|
rs368867118
|
0.00028
|
|
NM_018699.4(PRDM5):c.1031-15T>C
|
rs201474353
|
0.00028
|
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
|
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=)
|
rs190820180
|
0.00027
|
|
NM_014244.5(ADAMTS2):c.2290+13G>A
|
rs368267104
|
0.00027
|
|
NM_014244.5(ADAMTS2):c.2958+7A>G
|
rs377461767
|
0.00027
|
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
|
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)
|
rs142544320
|
0.00026
|
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
|
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)
|
rs183149417
|
0.00026
|
|
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys)
|
rs748126365
|
0.00026
|
|
NM_001367624.2(ZNF469):c.4855G>A (p.Glu1619Lys)
|
rs759327672
|
0.00026
|
|
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)
|
rs273585623
|
0.00026
|
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
|
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)
|
rs200570792
|
0.00026
|
|
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys)
|
rs562076616
|
0.00026
|
|
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)
|
rs368321891
|
0.00026
|
|
NM_014244.5(ADAMTS2):c.*1797C>T
|
rs553329835
|
0.00026
|
|
NM_014244.5(ADAMTS2):c.1383-16C>T
|
rs377462612
|
0.00026
|
|
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=)
|
rs571054777
|
0.00026
|
|
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=)
|
rs142721501
|
0.00026
|
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
|
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu)
|
rs370679548
|
0.00026
|
|
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)
|
rs150670521
|
0.00025
|
|
NM_000093.5(COL5A1):c.5371-17G>A
|
rs376639668
|
0.00025
|
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
0.00025
|
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
0.00025
|
|
NM_001128225.3(SLC39A13):c.1011C>T (p.Leu337=)
|
rs113058610
|
0.00025
|
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
|
NM_007255.3(B4GALT7):c.49A>G (p.Arg17Gly)
|
rs774824237
|
0.00025
|
|
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)
|
rs370608825
|
0.00024
|
|
NM_000089.4(COL1A2):c.639+19A>T
|
rs183516726
|
0.00024
|
|
NM_000089.4(COL1A2):c.892-13C>G
|
rs200532328
|
0.00024
|
|
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)
|
rs147058179
|
0.00024
|
|
NM_000090.4(COL3A1):c.*622T>C
|
rs572369155
|
0.00024
|
|
NM_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
0.00024
|
|
NM_000393.5(COL5A2):c.1433A>T (p.Glu478Val)
|
rs559110283
|
0.00024
|
|
NM_001365276.2(TNXB):c.2485G>A (p.Gly829Ser)
|
rs147172260
|
0.00024
|
|
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg)
|
rs200319996
|
0.00024
|
|
NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met)
|
rs367661800
|
0.00024
|
|
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)
|
rs200522966
|
0.00024
|
|
NM_001365276.2(TNXB):c.9897G>A (p.Ala3299=)
|
rs373655652
|
0.00024
|
|
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=)
|
rs747982811
|
0.00024
|
|
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)
|
rs373739940
|
0.00024
|
|
NM_004370.6(COL12A1):c.6068-17G>T
|
rs200347973
|
0.00024
|
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00024
|
|
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)
|
rs142885560
|
0.00024
|
|
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met)
|
rs367796431
|
0.00024
|
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
|
NM_000093.5(COL5A1):c.*145G>A
|
rs181323324
|
0.00023
|
|
NM_000302.4(PLOD1):c.1471-8C>T
|
rs201661871
|
0.00023
|
|
NM_001365276.2(TNXB):c.6358G>A (p.Gly2120Ser)
|
rs777574450
|
0.00023
|
|
NM_001365276.2(TNXB):c.9040T>C (p.Cys3014Arg)
|
rs2857007
|
0.00023
|
|
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)
|
rs750681115
|
0.00023
|
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
|
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)
|
rs200450866
|
0.00023
|
|
NM_007255.3(B4GALT7):c.867T>C (p.Thr289=)
|
rs201616836
|
0.00023
|
|
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=)
|
rs145016043
|
0.00023
|
|
NM_018699.4(PRDM5):c.-61G>C
|
rs556802821
|
0.00023
|
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
|
NM_000093.5(COL5A1):c.-139G>T
|
rs886063672
|
0.00022
|
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
|
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val)
|
rs138068984
|
0.00022
|
|
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=)
|
rs140031713
|
0.00022
|
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
|
NM_001365276.2(TNXB):c.12058+6T>G
|
rs761600175
|
0.00022
|
|
NM_001365276.2(TNXB):c.2325C>T (p.Pro775=)
|
rs943305771
|
0.00022
|
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
|
NM_001367624.2(ZNF469):c.760G>A (p.Glu254Lys)
|
rs755977911
|
0.00022
|
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
0.00022
|
|
NM_004370.6(COL12A1):c.1892-7_1892-6insC
|
rs34433354
|
0.00022
|
|
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=)
|
rs567079114
|
0.00022
|
|
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=)
|
rs370691983
|
0.00022
|
|
NM_004370.6(COL12A1):c.823+20T>C
|
rs534530101
|
0.00022
|
|
NM_007255.3(B4GALT7):c.222C>G (p.Ala74=)
|
rs200218920
|
0.00022
|
|
NM_014244.5(ADAMTS2):c.*2302C>T
|
rs564480935
|
0.00022
|
|
NM_014244.5(ADAMTS2):c.*2440G>A
|
rs546192004
|
0.00022
|
|
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr)
|
rs145336133
|
0.00022
|
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
|
NM_014244.5(ADAMTS2):c.759G>A (p.Ser253=)
|
rs374180760
|
0.00022
|
|
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)
|
rs201325904
|
0.00022
|
|
NM_130468.4(CHST14):c.993C>A (p.Ala331=)
|
rs138273557
|
0.00022
|
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
|
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=)
|
rs146206917
|
0.00021
|
|
NM_000089.4(COL1A2):c.981C>T (p.Arg327=)
|
rs141762645
|
0.00021
|
|
NM_000090.4(COL3A1):c.1977+9C>T
|
rs184223621
|
0.00021
|
|
NM_000090.4(COL3A1):c.799-11A>T
|
rs200148262
|
0.00021
|
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
|
NM_000093.5(COL5A1):c.1774-7C>A
|
rs371941850
|
0.00021
|
|
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)
|
rs375631252
|
0.00021
|
|
NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro)
|
rs768691969
|
0.00021
|
|
NM_000093.5(COL5A1):c.921C>T (p.Pro307=)
|
rs144335980
|
0.00021
|
|
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser)
|
rs141692280
|
0.00021
|
|
NM_000302.4(PLOD1):c.303-16G>A
|
rs369132980
|
0.00021
|
|
NM_000393.4(COL5A2):c.-176T>A
|
rs570350400
|
0.00021
|
|
NM_001365276.2(TNXB):c.2366G>A (p.Gly789Glu)
|
rs367834992
|
0.00021
|
|
NM_001365276.2(TNXB):c.7906A>G (p.Met2636Val)
|
rs369180703
|
0.00021
|
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
|
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=)
|
rs140662877
|
0.00021
|
|
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=)
|
rs202092920
|
0.00021
|
|
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)
|
rs200034130
|
0.00021
|
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
|
NM_013352.4(DSE):c.2129C>T (p.Ala710Val)
|
rs533772643
|
0.00021
|
|
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala)
|
rs143226402
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=)
|
rs137875904
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)
|
rs144138766
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser)
|
rs546990509
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)
|
rs201390756
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn)
|
rs200022037
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=)
|
rs185794582
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.3624C>T (p.Leu1208=)
|
rs139420412
|
0.00021
|
|
NM_000088.4(COL1A1):c.957+10C>A
|
rs376179885
|
0.00020
|
|
NM_000089.4(COL1A2):c.2754C>T (p.Asn918=)
|
rs375719762
|
0.00020
|
|
NM_000093.5(COL5A1):c.999C>T (p.Val333=)
|
rs138702819
|
0.00020
|
|
NM_000393.5(COL5A2):c.2338-6T>C
|
rs375291199
|
0.00020
|
|
NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu)
|
rs562206142
|
0.00020
|
|
NM_001367624.2(ZNF469):c.*617C>T
|
rs886052422
|
0.00020
|
|
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg)
|
rs557636016
|
0.00020
|
|
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)
|
rs121909582
|
0.00020
|
|
NM_007255.3(B4GALT7):c.700C>T (p.Arg234Cys)
|
rs139730903
|
0.00020
|
|
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)
|
rs777778007
|
0.00020
|
|
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.299-15C>T
|
rs199523510
|
0.00019
|
|
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=)
|
rs765470622
|
0.00019
|
|
NM_000089.4(COL1A2):c.873C>T (p.Ser291=)
|
rs770128801
|
0.00019
|
|
NM_000093.5(COL5A1):c.*2294A>T
|
rs571153134
|
0.00019
|
|
NM_000093.5(COL5A1):c.2844+20G>A
|
rs200916696
|
0.00019
|
|
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser)
|
rs139116598
|
0.00019
|
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
|
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met)
|
rs145093766
|
0.00019
|
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
|
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met)
|
rs748526375
|
0.00019
|
|
NM_000302.4(PLOD1):c.411G>A (p.Arg137=)
|
rs151122664
|
0.00019
|
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
|
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=)
|
rs375110673
|
0.00019
|
|
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)
|
rs372170366
|
0.00019
|
|
NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu)
|
rs376639281
|
0.00019
|
|
NM_001365276.2(TNXB):c.9439+8A>G
|
rs200282568
|
0.00019
|
|
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)
|
rs367685759
|
0.00019
|
|
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys)
|
rs528085780
|
0.00019
|
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
|
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=)
|
rs147111006
|
0.00019
|
|
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn)
|
rs185615367
|
0.00019
|
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
|
NM_013352.4(DSE):c.450G>A (p.Pro150=)
|
rs773416085
|
0.00019
|
|
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)
|
rs199664723
|
0.00019
|
|
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met)
|
rs148717330
|
0.00019
|
|
NM_017946.4(FKBP14):c.349+15G>A
|
rs201366617
|
0.00019
|
|
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)
|
rs766643057
|
0.00019
|
|
NM_000089.4(COL1A2):c.1474A>G (p.Ile492Val)
|
rs776551401
|
0.00018
|
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
|
NM_000093.5(COL5A1):c.2799+11G>A
|
rs377322092
|
0.00018
|
|
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln)
|
rs771807198
|
0.00018
|
|
NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr)
|
rs150083065
|
0.00018
|
|
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)
|
rs200131516
|
0.00018
|
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
|
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro)
|
rs34395097
|
0.00018
|
|
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)
|
rs373288848
|
0.00018
|
|
NM_001367624.2(ZNF469):c.4948G>A (p.Val1650Ile)
|
rs776625365
|
0.00018
|
|
NM_003242.6(TGFBR2):c.984C>T (p.His328=)
|
rs193922666
|
0.00018
|
|
NM_004370.6(COL12A1):c.5251+14T>C
|
rs188210409
|
0.00018
|
|
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
|
rs200091648
|
0.00018
|
|
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln)
|
rs182768408
|
0.00018
|
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
|
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)
|
rs374717566
|
0.00018
|
|
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=)
|
rs147197558
|
0.00018
|
|
NM_130468.4(CHST14):c.471G>A (p.Val157=)
|
rs200761477
|
0.00018
|
|
NM_000088.4(COL1A1):c.*120T>C
|
rs773014749
|
0.00017
|
|
NM_000088.4(COL1A1):c.3815-12G>T
|
rs201066018
|
0.00017
|
|
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=)
|
rs545459178
|
0.00017
|
|
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
|
rs41317144
|
0.00017
|
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
|
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)
|
rs145090868
|
0.00017
|
|
NM_000093.5(COL5A1):c.417C>T (p.Leu139=)
|
rs138687282
|
0.00017
|
|
NM_000093.5(COL5A1):c.5137-8C>T
|
rs374377228
|
0.00017
|
|
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val)
|
rs145552797
|
0.00017
|
|
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)
|
rs144702307
|
0.00017
|
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
|
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr)
|
rs754018138
|
0.00017
|
|
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn)
|
rs200036158
|
0.00017
|
|
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)
|
rs281865149
|
0.00017
|
|
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)
|
rs546332627
|
0.00017
|
|
NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln)
|
rs200019229
|
0.00017
|
|
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)
|
rs377413592
|
0.00017
|
|
NM_004370.6(COL12A1):c.7354+10T>A
|
rs199945254
|
0.00017
|
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
|
NM_013352.4(DSE):c.2727T>C (p.Ile909=)
|
rs199742443
|
0.00017
|
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
|
NM_000088.4(COL1A1):c.*202A>G
|
rs564917505
|
0.00016
|
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
|
NM_000088.4(COL1A1):c.1615-14C>T
|
rs190098788
|
0.00016
|
|
NM_000089.3(COL1A2):c.-428G>A
|
rs753974789
|
0.00016
|
|
NM_000089.4(COL1A2):c.*195C>T
|
rs190115417
|
0.00016
|
|
NM_000089.4(COL1A2):c.132+20T>C
|
rs767408109
|
0.00016
|
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
0.00016
|
|
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=)
|
rs141091206
|
0.00016
|
|
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)
|
rs112164939
|
0.00016
|
|
NM_000093.5(COL5A1):c.*1734G>A
|
rs886063688
|
0.00016
|
|
NM_000093.5(COL5A1):c.*1845A>G
|
rs553877631
|
0.00016
|
|
NM_000093.5(COL5A1):c.*1848C>G
|
rs886063692
|
0.00016
|
|
NM_000093.5(COL5A1):c.*2175G>A
|
rs781775180
|
0.00016
|
|
NM_000093.5(COL5A1):c.1569+20G>A
|
rs200690483
|
0.00016
|
|
NM_000093.5(COL5A1):c.2287-16T>G
|
rs201161949
|
0.00016
|
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
|
NM_000093.5(COL5A1):c.5370+14G>A
|
rs201082330
|
0.00016
|
|
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)
|
rs146360295
|
0.00016
|
|
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp)
|
rs150852515
|
0.00016
|
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
|
NM_000393.5(COL5A2):c.288T>C (p.Cys96=)
|
rs577308799
|
0.00016
|
|
NM_000393.5(COL5A2):c.961-14T>C
|
rs199880428
|
0.00016
|
|
NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu)
|
rs184813324
|
0.00016
|
|
NM_001365276.2(TNXB):c.5965C>T (p.Arg1989Cys)
|
rs371681556
|
0.00016
|
|
NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=)
|
rs375764263
|
0.00016
|
|
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser)
|
rs187453092
|
0.00016
|
|
NM_001367624.2(ZNF469):c.4571T>G (p.Leu1524Arg)
|
rs111916311
|
0.00016
|
|
NM_001367624.2(ZNF469):c.4920G>A (p.Ala1640=)
|
rs777779701
|
0.00016
|
|
NM_001367624.2(ZNF469):c.963C>T (p.Gly321=)
|
rs758193918
|
0.00016
|
|
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly)
|
rs757791330
|
0.00016
|
|
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)
|
rs367630003
|
0.00016
|
|
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val)
|
rs201657576
|
0.00016
|
|
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)
|
rs200443479
|
0.00016
|
|
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=)
|
rs181007051
|
0.00016
|
|
NM_007255.3(B4GALT7):c.498G>A (p.Leu166=)
|
rs140848441
|
0.00016
|
|
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu)
|
rs200732558
|
0.00016
|
|
NM_013352.4(DSE):c.1221T>A (p.Pro407=)
|
rs140103226
|
0.00016
|
|
NM_014244.5(ADAMTS2):c.1629+6G>A
|
rs377268307
|
0.00016
|
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
|
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=)
|
rs139249329
|
0.00016
|
|
NM_018699.4(PRDM5):c.1113C>A (p.Ser371Arg)
|
rs148079992
|
0.00016
|
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
|
NM_000090.4(COL3A1):c.2229+6G>A
|
rs10186160
|
0.00015
|
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
|
NM_000093.5(COL5A1):c.4954+16G>A
|
rs370938164
|
0.00015
|
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
|
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=)
|
rs139230801
|
0.00015
|
|
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)
|
rs147924545
|
0.00015
|
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
|
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)
|
rs140851866
|
0.00015
|
|
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser)
|
rs770149701
|
0.00015
|
|
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg)
|
rs199581373
|
0.00015
|
|
NM_001365276.2(TNXB):c.5155G>A (p.Val1719Met)
|
rs200125936
|
0.00015
|
|
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
|
rs552311966
|
0.00015
|
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
|
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)
|
rs768052470
|
0.00015
|
|
NM_004370.6(COL12A1):c.3443+16G>A
|
rs371060233
|
0.00015
|
|
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)
|
rs192345009
|
0.00015
|
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
|
NM_004370.6(COL12A1):c.66G>A (p.Glu22=)
|
rs369544130
|
0.00015
|
|
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr)
|
rs199654252
|
0.00015
|
|
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)
|
rs200901687
|
0.00015
|
|
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)
|
rs756942664
|
0.00015
|
|
NM_013352.4(DSE):c.910+20G>A
|
rs376761852
|
0.00015
|
|
NM_014244.5(ADAMTS2):c.*2064A>G
|
rs759155545
|
0.00015
|
|
NM_014244.5(ADAMTS2):c.2617+19del
|
rs753157368
|
0.00015
|
|
NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser)
|
rs368690576
|
0.00015
|
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
|
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln)
|
rs139593707
|
0.00014
|
|
NM_000089.4(COL1A2):c.1252-17T>G
|
rs774667135
|
0.00014
|
|
NM_000089.4(COL1A2):c.226-6C>A
|
rs199616511
|
0.00014
|
|
NM_000089.4(COL1A2):c.2836-17C>T
|
rs370073620
|
0.00014
|
|
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
|
rs369434464
|
0.00014
|
|
NM_000090.4(COL3A1):c.1348-18A>G
|
rs115062076
|
0.00014
|
|
NM_000090.4(COL3A1):c.3040-18T>G
|
rs369590025
|
0.00014
|
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
|
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu)
|
rs140943202
|
0.00014
|
|
NM_000093.5(COL5A1):c.2089-8G>A
|
rs368595229
|
0.00014
|
|
NM_000093.5(COL5A1):c.3114+12G>C
|
rs528913410
|
0.00014
|
|
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00014
|
|
NM_000093.5(COL5A1):c.36G>C (p.Ala12=)
|
rs1029930975
|
0.00014
|
|
NM_000093.5(COL5A1):c.3906+19C>T
|
rs571788196
|
0.00014
|
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
|
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=)
|
rs200073020
|
0.00014
|
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
|
NM_000302.4(PLOD1):c.2028+17C>T
|
rs373318413
|
0.00014
|
|
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=)
|
rs763068575
|
0.00014
|
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
|
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser)
|
rs376971803
|
0.00014
|
|
NM_001128225.3(SLC39A13):c.416-12C>T
|
rs199512587
|
0.00014
|
|
NM_001365276.2(TNXB):c.11387-10A>G
|
rs549209308
|
0.00014
|
|
NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys)
|
rs373029180
|
0.00014
|
|
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)
|
rs546141859
|
0.00014
|
|
NM_001733.7(C1R):c.445C>T (p.Arg149Trp)
|
rs373462345
|
0.00014
|
|
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=)
|
rs370024636
|
0.00014
|
|
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=)
|
rs368930149
|
0.00014
|
|
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=)
|
rs369770672
|
0.00014
|
|
NM_004370.6(COL12A1):c.8469+14T>C
|
rs370535727
|
0.00014
|
|
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)
|
rs57396313
|
0.00014
|
|
NM_013352.4(DSE):c.240C>T (p.Ser80=)
|
rs143347973
|
0.00014
|
|
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val)
|
rs368221089
|
0.00014
|
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
|
NM_014244.5(ADAMTS2):c.2290+16G>A
|
rs377081338
|
0.00014
|
|
NM_014244.5(ADAMTS2):c.975+8C>T
|
rs369740542
|
0.00014
|
|
NM_017946.4(FKBP14):c.525G>T (p.Val175=)
|
rs747381671
|
0.00014
|
|
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys)
|
rs369580755
|
0.00014
|
|
NM_130468.4(CHST14):c.765C>T (p.Gly255=)
|
rs148053059
|
0.00014
|
|
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=)
|
rs776387246
|
0.00013
|
|
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)
|
rs767525556
|
0.00013
|
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
|
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)
|
rs148802548
|
0.00013
|
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
|
NM_000090.4(COL3A1):c.2733T>C (p.Thr911=)
|
rs138961881
|
0.00013
|
|
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)
|
rs201220788
|
0.00013
|
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
|
NM_000093.5(COL5A1):c.1476C>T (p.Val492=)
|
rs141093527
|
0.00013
|
|
NM_000093.5(COL5A1):c.1720-12A>C
|
rs372891725
|
0.00013
|
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
|
NM_000093.5(COL5A1):c.2332-16T>A
|
rs369948898
|
0.00013
|
|
NM_000093.5(COL5A1):c.2845-17C>A
|
rs368737278
|
0.00013
|
|
NM_000093.5(COL5A1):c.3576C>A (p.Gly1192=)
|
rs141676973
|
0.00013
|
|
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile)
|
rs145757313
|
0.00013
|
|
NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=)
|
rs368011067
|
0.00013
|
|
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val)
|
rs112858705
|
0.00013
|
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
|
NM_000302.4(PLOD1):c.644-11C>T
|
rs375303994
|
0.00013
|
|
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)
|
rs199669594
|
0.00013
|
|
NM_000302.4(PLOD1):c.843+10C>T
|
rs149399201
|
0.00013
|
|
NM_000302.4(PLOD1):c.853C>T (p.Leu285=)
|
rs370663808
|
0.00013
|
|
NM_000302.4(PLOD1):c.975+14G>A
|
rs371184529
|
0.00013
|
|
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala)
|
rs542643688
|
0.00013
|
|
NM_000393.5(COL5A2):c.228C>T (p.Cys76=)
|
rs564136480
|
0.00013
|
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
|
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)
|
rs149064715
|
0.00013
|
|
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247
|
0.00013
|
|
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln)
|
rs200490683
|
0.00013
|
|
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=)
|
rs140844921
|
0.00013
|
|
NM_001365276.2(TNXB):c.4894A>G (p.Ile1632Val)
|
rs766602645
|
0.00013
|
|
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met)
|
rs188124424
|
0.00013
|
|
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)
|
rs529485424
|
0.00013
|
|
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)
|
rs377386505
|
0.00013
|
|
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His)
|
rs758123475
|
0.00013
|
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
|
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu)
|
rs755244502
|
0.00013
|
|
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=)
|
rs768288160
|
0.00013
|
|
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys)
|
rs578166707
|
0.00013
|
|
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)
|
rs777666112
|
0.00013
|
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
|
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys)
|
rs377223474
|
0.00013
|
|
NM_004370.6(COL12A1):c.4001-11C>T
|
rs374279219
|
0.00013
|
|
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=)
|
rs180961776
|
0.00013
|
|
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=)
|
rs376582053
|
0.00013
|
|
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln)
|
rs375644526
|
0.00013
|
|
NM_014244.5(ADAMTS2):c.*222C>T
|
rs886060488
|
0.00013
|
|
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser)
|
rs149708395
|
0.00013
|
|
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=)
|
rs61754844
|
0.00013
|
|
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=)
|
rs138580383
|
0.00013
|
|
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys)
|
rs17667857
|
0.00013
|
|
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr)
|
rs377718922
|
0.00013
|
|
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro)
|
rs866817984
|
0.00013
|
|
NM_130468.4(CHST14):c.796T>C (p.Tyr266His)
|
rs377155775
|
0.00013
|
|
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=)
|
rs568904847
|
0.00012
|
|
NM_000089.4(COL1A2):c.*545A>G
|
rs761806166
|
0.00012
|
|
NM_000089.4(COL1A2):c.1972-9T>C
|
rs372800013
|
0.00012
|
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
0.00012
|
|
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=)
|
rs370034518
|
0.00012
|
|
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)
|
rs146837092
|
0.00012
|
|
NM_000093.5(COL5A1):c.*1287C>T
|
rs189437752
|
0.00012
|
|
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)
|
rs201871481
|
0.00012
|
|
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)
|
rs767284056
|
0.00012
|
|
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
|
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)
|
rs143604754
|
0.00012
|
|
NM_000302.4(PLOD1):c.2181C>T (p.Pro727=)
|
rs140741046
|
0.00012
|
|
NM_001128225.3(SLC39A13):c.302-3T>C
|
rs371414744
|
0.00012
|
|
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=)
|
rs761030884
|
0.00012
|
|
NM_001367624.2(ZNF469):c.*218G>A
|
rs137889724
|
0.00012
|
|
NM_001367624.2(ZNF469):c.*285C>T
|
rs35994806
|
0.00012
|
|
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser)
|
rs548646578
|
0.00012
|
|
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr)
|
rs746733236
|
0.00012
|
|
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)
|
rs766878740
|
0.00012
|
|
NM_001367624.2(ZNF469):c.4675G>A (p.Glu1559Lys)
|
rs376951144
|
0.00012
|
|
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr)
|
rs558035857
|
0.00012
|
|
NM_001999.4(FBN2):c.2469C>T (p.Asn823=)
|
rs770997817
|
0.00012
|
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
|
NM_004370.6(COL12A1):c.1891+4A>G
|
rs148292262
|
0.00012
|
|
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)
|
rs199692759
|
0.00012
|
|
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)
|
rs777544552
|
0.00012
|
|
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)
|
rs373059256
|
0.00012
|
|
NM_007255.3(B4GALT7):c.717G>C (p.Gly239=)
|
rs149805079
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.*2420A>G
|
rs376369089
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)
|
rs369654932
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=)
|
rs780314895
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr)
|
rs376820857
|
0.00012
|
|
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)
|
rs201945549
|
0.00012
|
|
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=)
|
rs370430307
|
0.00012
|
|
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=)
|
rs532162467
|
0.00012
|
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
|
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)
|
rs193922150
|
0.00011
|
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00011
|
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
|
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
|
rs202068380
|
0.00011
|
|
NM_000089.4(COL1A2):c.2782-19T>G
|
rs193922164
|
0.00011
|
|
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met)
|
rs765448220
|
0.00011
|
|
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp)
|
rs1014550811
|
0.00011
|
|
NM_000090.4(COL3A1):c.1347+6T>C
|
rs373343032
|
0.00011
|
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
|
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu)
|
rs150543864
|
0.00011
|
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
|
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)
|
rs142042452
|
0.00011
|
|
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)
|
rs374020067
|
0.00011
|
|
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)
|
rs200590188
|
0.00011
|
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
|
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=)
|
rs199630108
|
0.00011
|
|
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)
|
rs146195310
|
0.00011
|
|
NM_000093.5(COL5A1):c.2700+191C>T
|
rs183885286
|
0.00011
|
|
NM_000093.5(COL5A1):c.3528+19G>T
|
rs200672136
|
0.00011
|
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
|
NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=)
|
rs192806271
|
0.00011
|
|
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=)
|
rs143794669
|
0.00011
|
|
NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu)
|
rs377062537
|
0.00011
|
|
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)
|
rs147398633
|
0.00011
|
|
NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His)
|
rs199998065
|
0.00011
|
|
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)
|
rs747549921
|
0.00011
|
|
NM_000093.5(COL5A1):c.5136+73G>A
|
rs560195385
|
0.00011
|
|
NM_000302.4(PLOD1):c.1608C>T (p.His536=)
|
rs138289419
|
0.00011
|
|
NM_000302.4(PLOD1):c.678G>A (p.Val226=)
|
rs371007185
|
0.00011
|
|
NM_000393.5(COL5A2):c.*561T>C
|
rs564981830
|
0.00011
|
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
|
NM_000393.5(COL5A2):c.1977+12T>G
|
rs202204374
|
0.00011
|
|
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=)
|
rs370304175
|
0.00011
|
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
|
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His)
|
rs139264859
|
0.00011
|
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
0.00011
|
|
NM_000393.5(COL5A2):c.906+9A>G
|
rs761662868
|
0.00011
|
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00011
|
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
|
NM_001367624.2(ZNF469):c.*216G>A
|
rs146964491
|
0.00011
|
|
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=)
|
rs527707590
|
0.00011
|
|
NM_001367624.2(ZNF469):c.14G>A (p.Arg5His)
|
rs762382027
|
0.00011
|
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
|
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys)
|
rs757657013
|
0.00011
|
|
NM_001367624.2(ZNF469):c.6177G>A (p.Pro2059=)
|
rs771042751
|
0.00011
|
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
|
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=)
|
rs561239255
|
0.00011
|
|
NM_001367624.2(ZNF469):c.9583C>T (p.Arg3195Cys)
|
rs774273165
|
0.00011
|
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
|
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg)
|
rs752689011
|
0.00011
|
|
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)
|
rs558571598
|
0.00011
|
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00011
|
|
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=)
|
rs369646700
|
0.00011
|
|
NM_013352.4(DSE):c.1383T>A (p.Ala461=)
|
rs200485959
|
0.00011
|
|
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln)
|
rs371043332
|
0.00011
|
|
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg)
|
rs146336077
|
0.00011
|
|
NM_013352.4(DSE):c.516A>G (p.Thr172=)
|
rs200780195
|
0.00011
|
|
NM_013352.4(DSE):c.645G>A (p.Thr215=)
|
rs370613241
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys)
|
rs371099308
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser)
|
rs201864255
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)
|
rs150535792
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln)
|
rs146064587
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala)
|
rs202197821
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.789C>T (p.Asp263=)
|
rs144235544
|
0.00011
|
|
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile)
|
rs141850025
|
0.00011
|
|
NM_018699.4(PRDM5):c.1282+9C>T
|
rs79915407
|
0.00011
|
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
|
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser)
|
rs759357299
|
0.00011
|
|
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)
|
rs374645024
|
0.00011
|
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
|
NM_000088.4(COL1A1):c.*1384_*1387del
|
rs886053139
|
0.00010
|
|
NM_000088.4(COL1A1):c.*502C>T
|
rs1004356084
|
0.00010
|
|
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=)
|
rs368746726
|
0.00010
|
|
NM_000089.4(COL1A2):c.1770A>G (p.Glu590=)
|
rs138019868
|
0.00010
|
|
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=)
|
rs541912705
|
0.00010
|
|
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His)
|
rs147063981
|
0.00010
|
|
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)
|
rs148362963
|
0.00010
|
|
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)
|
rs745413783
|
0.00010
|
|
NM_000089.4(COL1A2):c.486+15A>G
|
rs193922171
|
0.00010
|
|
NM_000090.4(COL3A1):c.120G>A (p.Ala40=)
|
rs138115610
|
0.00010
|
|
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=)
|
rs141542949
|
0.00010
|
|
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=)
|
rs375673185
|
0.00010
|
|
NM_000090.4(COL3A1):c.3525+19G>A
|
rs781061046
|
0.00010
|
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
0.00010
|
|
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr)
|
rs370499963
|
0.00010
|
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
|
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=)
|
rs745633063
|
0.00010
|
|
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu)
|
rs530442560
|
0.00010
|
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
|
NM_000093.5(COL5A1):c.2386-7C>T
|
rs746845504
|
0.00010
|
|
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=)
|
rs142347159
|
0.00010
|
|
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=)
|
rs367804791
|
0.00010
|
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
|
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)
|
rs368782334
|
0.00010
|
|
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)
|
rs148006741
|
0.00010
|
|
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val)
|
rs377080927
|
0.00010
|
|
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys)
|
rs750301725
|
0.00010
|
|
NM_000393.5(COL5A2):c.3039+7A>G
|
rs369227715
|
0.00010
|
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
|
NM_000393.5(COL5A2):c.403-3T>C
|
rs369733690
|
0.00010
|
|
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)
|
rs142895373
|
0.00010
|
|
NM_001365276.2(TNXB):c.10369G>T (p.Val3457Leu)
|
rs199623625
|
0.00010
|
|
NM_001365276.2(TNXB):c.10812C>T (p.Gly3604=)
|
rs769797413
|
0.00010
|
|
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp)
|
rs56345590
|
0.00010
|
|
NM_001365276.2(TNXB):c.8112C>T (p.Arg2704=)
|
rs753413229
|
0.00010
|
|
NM_001367624.2(ZNF469):c.10185G>C (p.Glu3395Asp)
|
rs149732077
|
0.00010
|
|
NM_001367624.2(ZNF469):c.10462G>A (p.Glu3488Lys)
|
rs781244140
|
0.00010
|
|
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=)
|
rs569036398
|
0.00010
|
|
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu)
|
rs886052413
|
0.00010
|
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
|
NM_004370.6(COL12A1):c.1050T>C (p.Val350=)
|
rs372113789
|
0.00010
|
|
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=)
|
rs373522815
|
0.00010
|
|
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys)
|
rs530680231
|
0.00010
|
|
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)
|
rs370767331
|
0.00010
|
|
NM_004370.6(COL12A1):c.732G>A (p.Val244=)
|
rs200141559
|
0.00010
|
|
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=)
|
rs190984968
|
0.00010
|
|
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)
|
rs376189614
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.*2147C>T
|
rs886060484
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.1605C>T (p.Asp535=)
|
rs765566532
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.2085+8C>A
|
rs199825726
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)
|
rs755099137
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=)
|
rs531768193
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser)
|
rs528367185
|
0.00010
|
|
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn)
|
rs869025493
|
0.00010
|
|
NM_018699.4(PRDM5):c.*154A>T
|
rs181244989
|
0.00010
|
|
NM_018699.4(PRDM5):c.1031-6T>A
|
rs753768741
|
0.00010
|
|
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=)
|
rs397514722
|
0.00010
|
|
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser)
|
rs1057522880
|
0.00010
|
|
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val)
|
rs766519442
|
0.00010
|
|
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro)
|
rs762133798
|
0.00010
|
|
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp)
|
rs577809616
|
0.00010
|
|
NM_000088.4(COL1A1):c.*342C>A
|
rs1253268385
|
0.00009
|
|
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
0.00009
|
|
NM_000088.4(COL1A1):c.3531+4T>C
|
rs145251615
|
0.00009
|
|
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)
|
rs138557594
|
0.00009
|
|
NM_000089.4(COL1A2):c.1720-13A>C
|
rs755024426
|
0.00009
|
|
NM_000089.4(COL1A2):c.2275G>A (p.Val759Ile)
|
rs200501072
|
0.00009
|
|
NM_000089.4(COL1A2):c.2500G>A (p.Val834Ile)
|
rs150993338
|
0.00009
|
|
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His)
|
rs140368271
|
0.00009
|
|
NM_000089.4(COL1A2):c.3077A>G (p.Asn1026Ser)
|
rs369457688
|
0.00009
|
|
NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=)
|
rs930277720
|
0.00009
|
|
NM_000089.4(COL1A2):c.395G>A (p.Arg132His)
|
rs372678526
|
0.00009
|
|
NM_000089.4(COL1A2):c.739-4T>G
|
rs373527410
|
0.00009
|
|
NM_000090.4(COL3A1):c.-101G>A
|
rs41265577
|
0.00009
|
|
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=)
|
rs765802289
|
0.00009
|
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
|
NM_000090.4(COL3A1):c.3256-12A>G
|
rs763415324
|
0.00009
|
|
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn)
|
rs147663769
|
0.00009
|
|
NM_000090.4(COL3A1):c.528+4C>T
|
rs528758308
|
0.00009
|
|
NM_000093.5(COL5A1):c.*1887G>A
|
rs886063693
|
0.00009
|
|
NM_000093.5(COL5A1):c.*2410C>G
|
rs886063694
|
0.00009
|
|
NM_000093.5(COL5A1):c.*608G>A
|
rs537858864
|
0.00009
|
|
NM_000093.5(COL5A1):c.*68C>T
|
rs886063679
|
0.00009
|
|
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu)
|
rs770793962
|
0.00009
|
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
|
NM_000093.5(COL5A1):c.1570-7C>T
|
rs566717644
|
0.00009
|
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
|
NM_000093.5(COL5A1):c.1935+12C>T
|
rs368245632
|
0.00009
|
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
|
NM_000093.5(COL5A1):c.2331+15C>T
|
rs369093559
|
0.00009
|
|
NM_000093.5(COL5A1):c.2844+19C>T
|
rs370610276
|
0.00009
|
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00009
|
|
NM_000093.5(COL5A1):c.3007-19A>G
|
rs370503113
|
0.00009
|
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
|
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=)
|
rs764683617
|
0.00009
|
|
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)
|
rs368305377
|
0.00009
|
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
|
NM_000093.5(COL5A1):c.3744+19C>T
|
rs200498760
|
0.00009
|
|
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=)
|
rs541963919
|
0.00009
|
|
NM_000093.5(COL5A1):c.4068+7G>A
|
rs587780905
|
0.00009
|
|
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg)
|
rs201801000
|
0.00009
|
|
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
|
rs761837954
|
0.00009
|
|
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)
|
rs138396959
|
0.00009
|
|
NM_000093.5(COL5A1):c.5370+13C>T
|
rs368524277
|
0.00009
|
|
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln)
|
rs560106611
|
0.00009
|
|
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=)
|
rs367657505
|
0.00009
|
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
|
NM_000302.4(PLOD1):c.*721T>G
|
rs142707437
|
0.00009
|
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
|
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)
|
rs202003686
|
0.00009
|
|
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met)
|
rs752708558
|
0.00009
|
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
|
NM_000393.5(COL5A2):c.*126A>G
|
rs755412373
|
0.00009
|
|
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=)
|
rs372869641
|
0.00009
|
|
NM_000393.5(COL5A2):c.2715+11T>C
|
rs371363636
|
0.00009
|
|
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys)
|
rs930378570
|
0.00009
|
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
|
NM_000393.5(COL5A2):c.570G>A (p.Pro190=)
|
rs139666335
|
0.00009
|
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
|
NM_001128225.3(SLC39A13):c.919+14G>A
|
rs377290130
|
0.00009
|
|
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp)
|
rs771249673
|
0.00009
|
|
NM_001365276.2(TNXB):c.8726A>G (p.Lys2909Arg)
|
rs372398179
|
0.00009
|
|
NM_001367624.2(ZNF469):c.*492G>A
|
rs190108769
|
0.00009
|
|
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)
|
rs770109867
|
0.00009
|
|
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val)
|
rs755348435
|
0.00009
|
|
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=)
|
rs577775261
|
0.00009
|
|
NM_001367624.2(ZNF469):c.5643C>T (p.Pro1881=)
|
rs539613654
|
0.00009
|
|
NM_001367624.2(ZNF469):c.7005C>T (p.Ala2335=)
|
rs576401425
|
0.00009
|
|
NM_001367624.2(ZNF469):c.7953C>G (p.Val2651=)
|
rs1319188011
|
0.00009
|
|
NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu)
|
rs1009769670
|
0.00009
|
|
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=)
|
rs533072680
|
0.00009
|
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
|
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)
|
rs201288931
|
0.00009
|
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
|
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu)
|
rs754916465
|
0.00009
|
|
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
|
rs200167099
|
0.00009
|
|
NM_004370.6(COL12A1):c.3099T>C (p.His1033=)
|
rs751065518
|
0.00009
|
|
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala)
|
rs528319887
|
0.00009
|
|
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val)
|
rs763883662
|
0.00009
|
|
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys)
|
rs199684959
|
0.00009
|
|
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=)
|
rs373978519
|
0.00009
|
|
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=)
|
rs372068116
|
0.00009
|
|
NM_004370.6(COL12A1):c.8100+16T>A
|
rs201476445
|
0.00009
|
|
NM_004370.6(COL12A1):c.8416-14A>G
|
rs202033555
|
0.00009
|
|
NM_004370.6(COL12A1):c.8523+18G>C
|
rs202002189
|
0.00009
|
|
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)
|
rs200375837
|
0.00009
|
|
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=)
|
rs375760724
|
0.00009
|
|
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=)
|
rs372857848
|
0.00009
|
|
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)
|
rs28937869
|
0.00009
|
|
NM_007255.3(B4GALT7):c.828+10G>A
|
rs766078359
|
0.00009
|
|
NM_007255.3(B4GALT7):c.909C>T (p.Gly303=)
|
rs557374282
|
0.00009
|
|
NM_013352.4(DSE):c.2005A>G (p.Ile669Val)
|
rs145999978
|
0.00009
|
|
NM_013352.4(DSE):c.2601C>T (p.Tyr867=)
|
rs535021192
|
0.00009
|
|
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser)
|
rs376771433
|
0.00009
|
|
NM_013352.4(DSE):c.359T>C (p.Ile120Thr)
|
rs147451395
|
0.00009
|
|
NM_014244.5(ADAMTS2):c.1775+18C>A
|
rs199809828
|
0.00009
|
|
NM_014244.5(ADAMTS2):c.3088+15G>A
|
rs910578729
|
0.00009
|
|
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=)
|
rs374590440
|
0.00009
|
|
NM_017946.4(FKBP14):c.179G>A (p.Gly60Asp)
|
rs781073404
|
0.00009
|
|
NM_017946.4(FKBP14):c.197+16C>T
|
rs375347830
|
0.00009
|
|
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met)
|
rs202182643
|
0.00009
|
|
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=)
|
rs147796327
|
0.00009
|
|
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=)
|
rs764859016
|
0.00009
|
|
NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu)
|
rs756566189
|
0.00009
|
|
NM_130468.4(CHST14):c.32C>T (p.Ala11Val)
|
rs1030815676
|
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_000089.4(COL1A2):c.2456G>A (p.Arg819His)
|
rs773985005
|
0.00008
|
|
NM_000089.4(COL1A2):c.2968G>T (p.Ala990Ser)
|
rs367848162
|
0.00008
|
|
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile)
|
rs777501717
|
0.00008
|
|
NM_000089.4(COL1A2):c.3954+19T>C
|
rs369698720
|
0.00008
|
|
NM_000090.4(COL3A1):c.1050+6C>T
|
rs528634384
|
0.00008
|
|
NM_000090.4(COL3A1):c.1977+10G>A
|
rs768976215
|
0.00008
|
|
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser)
|
rs771585795
|
0.00008
|
|
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=)
|
rs771034601
|
0.00008
|
|
NM_000093.5(COL5A1):c.1495-11C>A
|
rs199501759
|
0.00008
|
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
|
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=)
|
rs146757272
|
0.00008
|
|
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)
|
rs201220311
|
0.00008
|
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
|
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)
|
rs372109796
|
0.00008
|
|
NM_000093.5(COL5A1):c.3852+9C>T
|
rs548696863
|
0.00008
|
|
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala)
|
rs556167410
|
0.00008
|
|
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=)
|
rs767372665
|
0.00008
|
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
|
NM_000093.5(COL5A1):c.5137-7C>T
|
rs376750863
|
0.00008
|
|
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
0.00008
|
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00008
|
|
NM_000302.4(PLOD1):c.643+15C>T
|
rs376661744
|
0.00008
|
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
|
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)
|
rs782684339
|
0.00008
|
|
NM_001128225.3(SLC39A13):c.621C>T (p.Leu207=)
|
rs775396957
|
0.00008
|
|
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_001367624.2(ZNF469):c.11503G>A (p.Gly3835Arg)
|
rs574550673
|
0.00008
|
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
|
NM_001367624.2(ZNF469):c.4226C>T (p.Pro1409Leu)
|
rs776065579
|
0.00008
|
|
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg)
|
rs554985503
|
0.00008
|
|
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)
|
rs886052390
|
0.00008
|
|
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)
|
rs759032227
|
0.00008
|
|
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)
|
rs886052412
|
0.00008
|
|
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln)
|
rs764531239
|
0.00008
|
|
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=)
|
rs767588443
|
0.00008
|
|
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)
|
rs201657256
|
0.00008
|
|
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)
|
rs200698641
|
0.00008
|
|
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=)
|
rs746395625
|
0.00008
|
|
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=)
|
rs755878864
|
0.00008
|
|
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)
|
rs200108494
|
0.00008
|
|
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)
|
rs754228661
|
0.00008
|
|
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)
|
rs181711422
|
0.00008
|
|
NM_013352.4(DSE):c.1860C>T (p.Asp620=)
|
rs376227527
|
0.00008
|
|
NM_014244.5(ADAMTS2):c.2086-5A>C
|
rs770697326
|
0.00008
|
|
NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg)
|
rs374211371
|
0.00008
|
|
NM_014244.5(ADAMTS2):c.513G>T (p.Ala171=)
|
rs369983319
|
0.00008
|
|
NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr)
|
rs768334305
|
0.00008
|
|
NM_017946.4(FKBP14):c.246G>A (p.Leu82=)
|
rs188844900
|
0.00008
|
|
NM_018699.4(PRDM5):c.300+17C>T
|
rs376707809
|
0.00008
|
|
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly)
|
rs900539403
|
0.00008
|
|
NM_130468.4(CHST14):c.151G>C (p.Val51Leu)
|
rs199749498
|
0.00008
|
|
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
|
rs782290331
|
0.00007
|
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
|
NM_000088.4(COL1A1):c.3532-3C>T
|
rs369283493
|
0.00007
|
|
NM_000089.4(COL1A2):c.*131G>T
|
rs777448399
|
0.00007
|
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
|
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)
|
rs199732595
|
0.00007
|
|
NM_000089.4(COL1A2):c.2025+9A>G
|
rs368837694
|
0.00007
|
|
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)
|
rs149858889
|
0.00007
|
|
NM_000089.4(COL1A2):c.855G>C (p.Val285=)
|
rs185254570
|
0.00007
|
|
NM_000090.4(COL3A1):c.*72A>G
|
rs928894236
|
0.00007
|
|
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=)
|
rs763343051
|
0.00007
|
|
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
|
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=)
|
rs147250987
|
0.00007
|
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
|
NM_000090.4(COL3A1):c.952-7T>A
|
rs371250417
|
0.00007
|
|
NM_000093.5(COL5A1):c.-4C>G
|
rs769694875
|
0.00007
|
|
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=)
|
rs771885855
|
0.00007
|
|
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=)
|
rs758336822
|
0.00007
|
|
NM_000093.5(COL5A1):c.3115-10C>T
|
rs1018752469
|
0.00007
|
|
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)
|
rs564398230
|
0.00007
|
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00007
|
|
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu)
|
rs141605663
|
0.00007
|
|
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=)
|
rs145363211
|
0.00007
|
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
|
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln)
|
rs770896795
|
0.00007
|
|
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)
|
rs373448943
|
0.00007
|
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
|
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)
|
rs147434147
|
0.00007
|
|
NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=)
|
rs144081161
|
0.00007
|
|
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)
|
rs142886387
|
0.00007
|
|
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg)
|
rs863223467
|
0.00007
|
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
|
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala)
|
rs140105243
|
0.00007
|
|
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
|
rs377497101
|
0.00007
|
|
NM_000302.4(PLOD1):c.1218G>A (p.Pro406=)
|
rs754812888
|
0.00007
|
|
NM_000302.4(PLOD1):c.1903-5T>A
|
rs776128914
|
0.00007
|
|
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val)
|
rs149161535
|
0.00007
|
|
NM_000302.4(PLOD1):c.579+16C>T
|
rs552192756
|
0.00007
|
|
NM_000393.5(COL5A2):c.*1961T>C
|
rs886055346
|
0.00007
|
|
NM_000393.5(COL5A2):c.*401A>C
|
rs886055352
|
0.00007
|
|
NM_000393.5(COL5A2):c.2770-6T>C
|
rs770409954
|
0.00007
|
|
NM_000393.5(COL5A2):c.2931+18G>A
|
rs369992922
|
0.00007
|
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
|
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)
|
rs758412337
|
0.00007
|
|
NM_000393.5(COL5A2):c.4354-20A>G
|
rs568113641
|
0.00007
|
|
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)
|
rs368234550
|
0.00007
|
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
|
NM_001128225.3(SLC39A13):c.948G>A (p.Thr316=)
|
rs531462966
|
0.00007
|
|
NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=)
|
rs374172438
|
0.00007
|
|
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=)
|
rs936296523
|
0.00007
|
|
NM_001367624.2(ZNF469):c.1507C>T (p.Arg503Trp)
|
rs767072775
|
0.00007
|
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
|
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)
|
rs896312288
|
0.00007
|
|
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=)
|
rs373300146
|
0.00007
|
|
NM_001367624.2(ZNF469):c.7006C>T (p.Arg2336Cys)
|
rs1364703200
|
0.00007
|
|
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=)
|
rs551298094
|
0.00007
|
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
|
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)
|
rs147134796
|
0.00007
|
|
NM_004370.6(COL12A1):c.1134C>T (p.His378=)
|
rs376523503
|
0.00007
|
|
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met)
|
rs374544349
|
0.00007
|
|
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)
|
rs376514006
|
0.00007
|
|
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln)
|
rs370549168
|
0.00007
|
|
NM_004370.6(COL12A1):c.4288-12T>A
|
rs377491153
|
0.00007
|
|
NM_004370.6(COL12A1):c.4644C>T (p.Val1548=)
|
rs747738369
|
0.00007
|
|
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)
|
rs373011926
|
0.00007
|
|
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg)
|
rs540867293
|
0.00007
|
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00007
|
|
NM_007255.3(B4GALT7):c.522C>T (p.Asp174=)
|
rs775207945
|
0.00007
|
|
NM_007255.3(B4GALT7):c.561C>T (p.Ser187=)
|
rs767559423
|
0.00007
|
|
NM_013352.4(DSE):c.1005T>A (p.Arg335=)
|
rs375802351
|
0.00007
|
|
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr)
|
rs150311697
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.1133-19G>A
|
rs537699455
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.1239-12C>T
|
rs772989447
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2052C>T (p.Asp684=)
|
rs370799965
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=)
|
rs182103023
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met)
|
rs368363548
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)
|
rs769689633
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.663C>T (p.Leu221=)
|
rs143757086
|
0.00007
|
|
NM_017946.4(FKBP14):c.350-5G>A
|
rs763069544
|
0.00007
|
|
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=)
|
rs759484127
|
0.00007
|
|
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)
|
rs370328225
|
0.00007
|
|
NM_000088.4(COL1A1):c.*21G>C
|
rs201085309
|
0.00006
|
|
NM_000088.4(COL1A1):c.*714C>T
|
rs567392981
|
0.00006
|
|
NM_000088.4(COL1A1):c.1155+12C>T
|
rs774034198
|
0.00006
|
|
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)
|
rs375695940
|
0.00006
|
|
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)
|
rs372215246
|
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.3580G>A (p.Ala1194Thr)
|
rs769571473
|
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.528C>T (p.Ser176=)
|
rs748856187
|
0.00006
|
|
NM_000088.4(COL1A1):c.589-20T>C
|
rs370564344
|
0.00006
|
|
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)
|
rs763409550
|
0.00006
|
|
NM_000089.4(COL1A2):c.1036-9G>A
|
rs202024467
|
0.00006
|
|
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=)
|
rs200284501
|
0.00006
|
|
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)
|
rs749869789
|
0.00006
|
|
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=)
|
rs765398195
|
0.00006
|
|
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met)
|
rs374878685
|
0.00006
|
|
NM_000089.4(COL1A2):c.2250C>T (p.Asn750=)
|
rs372783567
|
0.00006
|
|
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His)
|
rs1800240
|
0.00006
|
|
NM_000089.4(COL1A2):c.2527G>A (p.Ala843Thr)
|
rs112697991
|
0.00006
|
|
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala)
|
rs751201659
|
0.00006
|
|
NM_000089.4(COL1A2):c.2796C>T (p.Asn932=)
|
rs757671800
|
0.00006
|
|
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=)
|
rs199580542
|
0.00006
|
|
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)
|
rs201168934
|
0.00006
|
|
NM_000089.4(COL1A2):c.2943+12A>T
|
rs544894904
|
0.00006
|
|
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=)
|
rs201760437
|
0.00006
|
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
|
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu)
|
rs145541630
|
0.00006
|
|
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr)
|
rs201746779
|
0.00006
|
|
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)
|
rs200278401
|
0.00006
|
|
NM_000089.4(COL1A2):c.671G>A (p.Arg224His)
|
rs771139732
|
0.00006
|
|
NM_000089.4(COL1A2):c.81+15T>C
|
rs758384218
|
0.00006
|
|
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile)
|
rs142803502
|
0.00006
|
|
NM_000090.4(COL3A1):c.1128C>T (p.His376=)
|
rs771015742
|
0.00006
|
|
NM_000090.4(COL3A1):c.1150-13T>C
|
rs201839712
|
0.00006
|
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00006
|
|
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)
|
rs140257722
|
0.00006
|
|
NM_000090.4(COL3A1):c.1586T>C (p.Val529Ala)
|
rs201980471
|
0.00006
|
|
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=)
|
rs149093989
|
0.00006
|
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
|
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=)
|
rs148901664
|
0.00006
|
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
|
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=)
|
rs112723105
|
0.00006
|
|
NM_000090.4(COL3A1):c.2824-5A>T
|
rs373994011
|
0.00006
|
|
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=)
|
rs367872728
|
0.00006
|
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
|
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=)
|
rs200917999
|
0.00006
|
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
|
NM_000090.4(COL3A1):c.3418-12A>G
|
rs373367218
|
0.00006
|
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
|
NM_000090.4(COL3A1):c.3993C>T (p.Ser1331=)
|
rs750815694
|
0.00006
|
|
NM_000090.4(COL3A1):c.546C>T (p.Pro182=)
|
rs754584062
|
0.00006
|
|
NM_000090.4(COL3A1):c.744+11A>G
|
rs375977001
|
0.00006
|
|
NM_000090.4(COL3A1):c.873C>T (p.Gly291=)
|
rs138569287
|
0.00006
|
|
NM_000090.4(COL3A1):c.898-5T>C
|
rs535434618
|
0.00006
|
|
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)
|
rs374537884
|
0.00006
|
|
NM_000093.5(COL5A1):c.*2090C>T
|
rs578207933
|
0.00006
|
|
NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu)
|
rs746905443
|
0.00006
|
|
NM_000093.5(COL5A1):c.1668A>G (p.Ala556=)
|
rs750022273
|
0.00006
|
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
0.00006
|
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
|
NM_000093.5(COL5A1):c.2646+14G>A
|
rs200583777
|
0.00006
|
|
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=)
|
rs746323129
|
0.00006
|
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
|
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=)
|
rs767002656
|
0.00006
|
|
NM_000093.5(COL5A1):c.3205-18C>G
|
rs199557977
|
0.00006
|
|
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
|
rs376248130
|
0.00006
|
|
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=)
|
rs372844807
|
0.00006
|
|
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=)
|
rs145134399
|
0.00006
|
|
NM_000093.5(COL5A1):c.3510G>A (p.Lys1170=)
|
rs543950268
|
0.00006
|
|
NM_000093.5(COL5A1):c.3600G>A (p.Pro1200=)
|
rs187345008
|
0.00006
|
|
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=)
|
rs150591401
|
0.00006
|
|
NM_000093.5(COL5A1):c.3906+11G>A
|
rs372939968
|
0.00006
|
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
|
NM_000093.5(COL5A1):c.408C>T (p.Pro136=)
|
rs376435758
|
0.00006
|
|
NM_000093.5(COL5A1):c.4231-9G>A
|
rs570545638
|
0.00006
|
|
NM_000093.5(COL5A1):c.447G>A (p.Pro149=)
|
rs200290973
|
0.00006
|
|
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=)
|
rs144672706
|
0.00006
|
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
|
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)
|
rs777045810
|
0.00006
|
|
NM_000093.5(COL5A1):c.753C>T (p.Thr251=)
|
rs374813957
|
0.00006
|
|
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)
|
rs144844792
|
0.00006
|
|
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met)
|
rs148548209
|
0.00006
|
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
|
NM_000093.5(COL5A1):c.936G>A (p.Pro312=)
|
rs150364815
|
0.00006
|
|
NM_000302.4(PLOD1):c.*128A>G
|
rs927504122
|
0.00006
|
|
NM_000302.4(PLOD1):c.*528G>A
|
rs886045215
|
0.00006
|
|
NM_000302.4(PLOD1):c.1651-8C>T
|
rs191817164
|
0.00006
|
|
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val)
|
rs142916043
|
0.00006
|
|
NM_000302.4(PLOD1):c.276G>A (p.Glu92=)
|
rs768169776
|
0.00006
|
|
NM_000302.4(PLOD1):c.534C>T (p.Ser178=)
|
rs113384442
|
0.00006
|
|
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu)
|
rs375416784
|
0.00006
|
|
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val)
|
rs756600025
|
0.00006
|
|
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser)
|
rs538763801
|
0.00006
|
|
NM_000302.4(PLOD1):c.77-7T>C
|
rs371488160
|
0.00006
|
|
NM_000302.4(PLOD1):c.874G>A (p.Val292Met)
|
rs143114026
|
0.00006
|
|
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp)
|
rs11553674
|
0.00006
|
|
NM_000302.4(PLOD1):c.936C>T (p.His312=)
|
rs374787907
|
0.00006
|
|
NM_000393.5(COL5A2):c.1617+9G>T
|
rs186490845
|
0.00006
|
|
NM_000393.5(COL5A2):c.1716+9A>G
|
rs201934598
|
0.00006
|
|
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=)
|
rs773332771
|
0.00006
|
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
|
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)
|
rs772448543
|
0.00006
|
|
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)
|
rs199530997
|
0.00006
|
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
|
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=)
|
rs1131429
|
0.00006
|
|
NM_000393.5(COL5A2):c.4114-11T>C
|
rs587780908
|
0.00006
|
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
0.00006
|
|
NM_000393.5(COL5A2):c.567+17G>T
|
rs780672109
|
0.00006
|
|
NM_000393.5(COL5A2):c.735T>G (p.Pro245=)
|
rs148851552
|
0.00006
|
|
NM_000393.5(COL5A2):c.906+14A>G
|
rs768645507
|
0.00006
|
|
NM_000393.5(COL5A2):c.985A>G (p.Met329Val)
|
rs140785678
|
0.00006
|
|
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)
|
rs1448428046
|
0.00006
|
|
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=)
|
rs772924353
|
0.00006
|
|
NM_001128225.3(SLC39A13):c.1043G>A (p.Arg348His)
|
rs770908923
|
0.00006
|
|
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu)
|
rs542593908
|
0.00006
|
|
NM_001128225.3(SLC39A13):c.786+8C>T
|
rs572017658
|
0.00006
|
|
NM_001365276.2(TNXB):c.11421C>T (p.Ala3807=)
|
rs761117807
|
0.00006
|
|
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met)
|
rs749925578
|
0.00006
|
|
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln)
|
rs551447544
|
0.00006
|
|
NM_001367624.2(ZNF469):c.10806G>A (p.Pro3602=)
|
rs753881778
|
0.00006
|
|
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser)
|
rs745385522
|
0.00006
|
|
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln)
|
rs775672255
|
0.00006
|
|
NM_001367624.2(ZNF469):c.11616G>A (p.Pro3872=)
|
rs1033054565
|
0.00006
|
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
|
NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys)
|
rs188954563
|
0.00006
|
|
NM_001367624.2(ZNF469):c.4320G>A (p.Glu1440=)
|
rs374090900
|
0.00006
|
|
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr)
|
rs545662898
|
0.00006
|
|
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)
|
rs755066385
|
0.00006
|
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
|
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=)
|
rs866760637
|
0.00006
|
|
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=)
|
rs762487170
|
0.00006
|
|
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)
|
rs761603858
|
0.00006
|
|
NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala)
|
rs751901105
|
0.00006
|
|
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys)
|
rs762301873
|
0.00006
|
|
NM_001734.5(C1S):c.124A>G (p.Ile42Val)
|
rs781944012
|
0.00006
|
|
NM_001734.5(C1S):c.622T>C (p.Leu208=)
|
rs144205018
|
0.00006
|
|
NM_001999.4(FBN2):c.1181G>A (p.Arg394His)
|
rs150790914
|
0.00006
|
|
NM_001999.4(FBN2):c.2115C>G (p.Thr705=)
|
rs763844538
|
0.00006
|
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
|
NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys)
|
rs753526426
|
0.00006
|
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
|
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe)
|
rs756100330
|
0.00006
|
|
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe)
|
rs376517147
|
0.00006
|
|
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met)
|
rs149832668
|
0.00006
|
|
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)
|
rs368113790
|
0.00006
|
|
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=)
|
rs376957850
|
0.00006
|
|
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro)
|
rs373259425
|
0.00006
|
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
|
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)
|
rs200819563
|
0.00006
|
|
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=)
|
rs201270183
|
0.00006
|
|
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=)
|
rs536622585
|
0.00006
|
|
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=)
|
rs752068052
|
0.00006
|
|
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr)
|
rs41269309
|
0.00006
|
|
NM_004370.6(COL12A1):c.4518A>G (p.Ser1506=)
|
rs201039857
|
0.00006
|
|
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=)
|
rs552834799
|
0.00006
|
|
NM_004370.6(COL12A1):c.525G>A (p.Glu175=)
|
rs199736979
|
0.00006
|
|
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=)
|
rs201965731
|
0.00006
|
|
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)
|
rs770194625
|
0.00006
|
|
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)
|
rs757348453
|
0.00006
|
|
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=)
|
rs144223578
|
0.00006
|
|
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile)
|
rs372482618
|
0.00006
|
|
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys)
|
rs777948762
|
0.00006
|
|
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys)
|
rs534778154
|
0.00006
|
|
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)
|
rs34336755
|
0.00006
|
|
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr)
|
rs576888932
|
0.00006
|
|
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)
|
rs368397177
|
0.00006
|
|
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=)
|
rs1035643006
|
0.00006
|
|
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala)
|
rs758182752
|
0.00006
|
|
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=)
|
rs568748031
|
0.00006
|
|
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe)
|
rs763858637
|
0.00006
|
|
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp)
|
rs769219928
|
0.00006
|
|
NM_004370.6(COL12A1):c.7520-17A>G
|
rs770500462
|
0.00006
|
|
NM_004370.6(COL12A1):c.7558+16T>C
|
rs754091668
|
0.00006
|
|
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=)
|
rs763305624
|
0.00006
|
|
NM_004370.6(COL12A1):c.7698-3C>T
|
rs760246080
|
0.00006
|
|
NM_007255.3(B4GALT7):c.278A>G (p.His93Arg)
|
rs370658610
|
0.00006
|
|
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=)
|
rs150487733
|
0.00006
|
|
NM_007255.3(B4GALT7):c.432C>T (p.Leu144=)
|
rs369974140
|
0.00006
|
|
NM_007255.3(B4GALT7):c.553G>A (p.Val185Met)
|
rs137913131
|
0.00006
|
|
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp)
|
rs147617631
|
0.00006
|
|
NM_007255.3(B4GALT7):c.723+13G>A
|
rs775276570
|
0.00006
|
|
NM_007255.3(B4GALT7):c.737C>T (p.Ser246Leu)
|
rs145692398
|
0.00006
|
|
NM_007255.3(B4GALT7):c.809G>A (p.Arg270His)
|
rs369752734
|
0.00006
|
|
NM_007255.3(B4GALT7):c.872A>G (p.Lys291Arg)
|
rs751742436
|
0.00006
|
|
NM_013352.4(DSE):c.1419C>T (p.Tyr473=)
|
rs374010235
|
0.00006
|
|
NM_013352.4(DSE):c.208C>T (p.Arg70Cys)
|
rs375337613
|
0.00006
|
|
NM_013352.4(DSE):c.2752A>G (p.Met918Val)
|
rs780791978
|
0.00006
|
|
NM_013352.4(DSE):c.600A>G (p.Gln200=)
|
rs150006874
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.*550G>A
|
rs753995152
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.1239-5C>T
|
rs767804420
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr)
|
rs546681307
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.1511C>T (p.Thr504Met)
|
rs765595538
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=)
|
rs778841966
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2036G>A (p.Arg679His)
|
rs144554943
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2085+17C>T
|
rs200253382
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2146G>A (p.Gly716Arg)
|
rs370013405
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2492C>T (p.Thr831Met)
|
rs7705437
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2557T>G (p.Ser853Ala)
|
rs762463826
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2689G>A (p.Ala897Thr)
|
rs748245637
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=)
|
rs763792775
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr)
|
rs375191740
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln)
|
rs140845527
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His)
|
rs369215593
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.640C>T (p.Arg214Trp)
|
rs144732073
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)
|
rs137853146
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=)
|
rs373732340
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.747C>T (p.His249=)
|
rs755476647
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.75G>C (p.Pro25=)
|
rs965841596
|
0.00006
|
|
NM_018699.4(PRDM5):c.*176T>C
|
rs558671397
|
0.00006
|
|
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)
|
rs187637689
|
0.00006
|
|
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=)
|
rs779285702
|
0.00006
|
|
NM_130468.4(CHST14):c.447C>T (p.Phe149=)
|
rs761965484
|
0.00006
|
|
NM_130468.4(CHST14):c.567G>A (p.Val189=)
|
rs758319940
|
0.00006
|
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
|
NM_000088.4(COL1A1):c.*1151C>T
|
rs536196631
|
0.00005
|
|
NM_000088.4(COL1A1):c.*1205C>G
|
rs551536386
|
0.00005
|
|
NM_000088.4(COL1A1):c.1200+5G>A
|
rs374322003
|
0.00005
|
|
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)
|
rs772929903
|
0.00005
|
|
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)
|
rs764780528
|
0.00005
|
|
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=)
|
rs747938841
|
0.00005
|
|
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp)
|
rs151256720
|
0.00005
|
|
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala)
|
rs760732696
|
0.00005
|
|
NM_000089.4(COL1A2):c.2388T>C (p.Gly796=)
|
rs370623514
|
0.00005
|
|
NM_000089.4(COL1A2):c.3691A>G (p.Thr1231Ala)
|
rs201560619
|
0.00005
|
|
NM_000089.4(COL1A2):c.382C>T (p.Pro128Ser)
|
rs774774401
|
0.00005
|
|
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)
|
rs926855674
|
0.00005
|
|
NM_000089.4(COL1A2):c.3938T>C (p.Leu1313Pro)
|
rs780400987
|
0.00005
|
|
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu)
|
rs370234887
|
0.00005
|
|
NM_000089.4(COL1A2):c.701G>A (p.Arg234His)
|
rs376341785
|
0.00005
|
|
NM_000090.4(COL3A1):c.1150-20T>C
|
rs377676752
|
0.00005
|
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
|
NM_000090.4(COL3A1):c.1235C>A (p.Ala412Asp)
|
rs1057519250
|
0.00005
|
|
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln)
|
rs200446048
|
0.00005
|
|
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=)
|
rs745440847
|
0.00005
|
|
NM_000090.4(COL3A1):c.2553+7T>C
|
rs951182466
|
0.00005
|
|
NM_000093.5(COL5A1):c.*302C>G
|
rs376087882
|
0.00005
|
|
NM_000093.5(COL5A1):c.*489A>G
|
rs142194317
|
0.00005
|
|
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=)
|
rs200245996
|
0.00005
|
|
NM_000093.5(COL5A1):c.1165-8C>T
|
rs770303209
|
0.00005
|
|
NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp)
|
rs745360062
|
0.00005
|
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
|
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=)
|
rs981088114
|
0.00005
|
|
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)
|
rs372082908
|
0.00005
|
|
NM_000093.5(COL5A1):c.2034+18G>C
|
rs200055343
|
0.00005
|
|
NM_000093.5(COL5A1):c.2034C>T (p.Pro678=)
|
rs373100663
|
0.00005
|
|
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=)
|
rs368590323
|
0.00005
|
|
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)
|
rs377123592
|
0.00005
|
|
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp)
|
rs185912761
|
0.00005
|
|
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=)
|
rs144775947
|
0.00005
|
|
NM_000093.5(COL5A1):c.2593-15T>C
|
rs747677530
|
0.00005
|
|
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)
|
rs144985214
|
0.00005
|
|
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys)
|
rs1457110544
|
0.00005
|
|
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=)
|
rs774035950
|
0.00005
|
|
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=)
|
rs546229885
|
0.00005
|
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
|
NM_000093.5(COL5A1):c.4068+11A>G
|
rs371926479
|
0.00005
|
|
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=)
|
rs537406193
|
0.00005
|
|
NM_000093.5(COL5A1):c.4609-18G>A
|
rs759466196
|
0.00005
|
|
NM_000093.5(COL5A1):c.4645-16T>C
|
rs373762865
|
0.00005
|
|
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=)
|
rs147904867
|
0.00005
|
|
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)
|
rs372971566
|
0.00005
|
|
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)
|
rs542783734
|
0.00005
|
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
|
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln)
|
rs863223467
|
0.00005
|
|
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln)
|
rs370305686
|
0.00005
|
|
NM_000302.4(PLOD1):c.1071G>A (p.Ala357=)
|
rs374036329
|
0.00005
|
|
NM_000302.4(PLOD1):c.1202+3G>A
|
rs370358836
|
0.00005
|
|
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys)
|
rs763672034
|
0.00005
|
|
NM_000302.4(PLOD1):c.1470+14G>A
|
rs761691961
|
0.00005
|
|
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu)
|
rs766692124
|
0.00005
|
|
NM_000302.4(PLOD1):c.870C>T (p.Val290=)
|
rs373082170
|
0.00005
|
|
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln)
|
rs992278231
|
0.00005
|
|
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr)
|
rs141881216
|
0.00005
|
|
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp)
|
rs959635301
|
0.00005
|
|
NM_000393.5(COL5A2):c.1005+10C>T
|
rs767297800
|
0.00005
|
|
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)
|
rs370774253
|
0.00005
|
|
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)
|
rs372220538
|
0.00005
|
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
|
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys)
|
rs754429372
|
0.00005
|
|
NM_000393.5(COL5A2):c.3309+16A>G
|
rs369424272
|
0.00005
|
|
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)
|
rs761126767
|
0.00005
|
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
|
NM_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr)
|
rs374739509
|
0.00005
|
|
NM_001365276.2(TNXB):c.4916G>A (p.Arg1639His)
|
rs756221645
|
0.00005
|
|
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys)
|
rs747880757
|
0.00005
|
|
NM_001365276.2(TNXB):c.8141C>T (p.Thr2714Met)
|
rs1192872355
|
0.00005
|
|
NM_001365276.2(TNXB):c.8393G>A (p.Arg2798His)
|
rs372230994
|
0.00005
|
|
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val)
|
rs753102887
|
0.00005
|
|
NM_001365276.2(TNXB):c.9488C>G (p.Ala3163Gly)
|
rs561810058
|
0.00005
|
|
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=)
|
rs780722176
|
0.00005
|
|
NM_001367624.2(ZNF469):c.2074C>A (p.His692Asn)
|
rs529827333
|
0.00005
|
|
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys)
|
rs387907063
|
0.00005
|
|
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=)
|
rs770986542
|
0.00005
|
|
NM_001367624.2(ZNF469):c.7130C>T (p.Pro2377Leu)
|
rs768036751
|
0.00005
|
|
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)
|
rs1163683032
|
0.00005
|
|
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)
|
rs752770883
|
0.00005
|
|
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly)
|
rs374757163
|
0.00005
|
|
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=)
|
rs199994914
|
0.00005
|
|
NM_004370.6(COL12A1):c.1892-6A>T
|
rs60109744
|
0.00005
|
|
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp)
|
rs758146130
|
0.00005
|
|
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe)
|
rs199992321
|
0.00005
|
|
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=)
|
rs377030726
|
0.00005
|
|
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=)
|
rs374531525
|
0.00005
|
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
|
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)
|
rs575168916
|
0.00005
|
|
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)
|
rs191996302
|
0.00005
|
|
NM_004370.6(COL12A1):c.384C>T (p.Thr128=)
|
rs200378966
|
0.00005
|
|
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val)
|
rs199757996
|
0.00005
|
|
NM_004370.6(COL12A1):c.4288-5C>T
|
rs544779989
|
0.00005
|
|
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
|
rs200870100
|
0.00005
|
|
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=)
|
rs554342070
|
0.00005
|
|
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)
|
rs367980407
|
0.00005
|
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
|
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=)
|
rs572512247
|
0.00005
|
|
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)
|
rs370090007
|
0.00005
|
|
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)
|
rs187063864
|
0.00005
|
|
NM_007255.3(B4GALT7):c.600C>T (p.Val200=)
|
rs148615542
|
0.00005
|
|
NM_007255.3(B4GALT7):c.66C>T (p.Ser22=)
|
rs774814337
|
0.00005
|
|
NM_007255.3(B4GALT7):c.723+7T>C
|
rs376100460
|
0.00005
|
|
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln)
|
rs367959320
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.1209G>A (p.Ala403=)
|
rs142967783
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.1349G>A (p.Arg450His)
|
rs752634323
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val)
|
rs370614125
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=)
|
rs462009
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro)
|
rs371013989
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.3178+7G>A
|
rs774767519
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe)
|
rs201343773
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=)
|
rs540177122
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.535-20C>T
|
rs565768078
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp)
|
rs372225444
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val)
|
rs749842975
|
0.00005
|
|
NM_014244.5(ADAMTS2):c.721C>T (p.Arg241Cys)
|
rs140045997
|
0.00005
|
|
NM_017946.4(FKBP14):c.350-6C>T
|
rs375827354
|
0.00005
|
|
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg)
|
rs374583073
|
0.00005
|
|
NM_018699.4(PRDM5):c.1623+8T>C
|
rs201965676
|
0.00005
|
|
NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val)
|
rs142133113
|
0.00005
|
|
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr)
|
rs558669120
|
0.00005
|
|
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=)
|
rs766907387
|
0.00005
|
|
NM_130468.4(CHST14):c.1119G>A (p.Ala373=)
|
rs149555952
|
0.00005
|
|
NM_000088.4(COL1A1):c.*285C>A
|
rs990020766
|
0.00004
|
|
NM_000088.4(COL1A1):c.299-9G>T
|
rs373041336
|
0.00004
|
|
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
|
rs372029024
|
0.00004
|
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
|
NM_000088.4(COL1A1):c.3630C>T (p.His1210=)
|
rs745320719
|
0.00004
|
|
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
|
rs371904584
|
0.00004
|
|
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)
|
rs149820303
|
0.00004
|
|
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)
|
rs146035171
|
0.00004
|
|
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr)
|
rs755610740
|
0.00004
|
|
NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg)
|
rs368447157
|
0.00004
|
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
|
NM_000089.4(COL1A2):c.1448C>A (p.Ala483Asp)
|
rs414408
|
0.00004
|
|
NM_000089.4(COL1A2):c.220G>A (p.Gly74Ser)
|
rs776365460
|
0.00004
|
|
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=)
|
rs139913150
|
0.00004
|
|
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=)
|
rs142310831
|
0.00004
|
|
NM_000089.4(COL1A2):c.2813G>A (p.Arg938His)
|
rs746504964
|
0.00004
|
|
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)
|
rs763509640
|
0.00004
|
|
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val)
|
rs746794922
|
0.00004
|
|
NM_000089.4(COL1A2):c.3106-19T>G
|
rs779002473
|
0.00004
|
|
NM_000089.4(COL1A2):c.3114T>C (p.His1038=)
|
rs974267627
|
0.00004
|
|
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)
|
rs767399660
|
0.00004
|
|
NM_000089.4(COL1A2):c.3268-9C>T
|
rs763122023
|
0.00004
|
|
NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn)
|
rs760490617
|
0.00004
|
|
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr)
|
rs1034555044
|
0.00004
|
|
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=)
|
rs936707370
|
0.00004
|
|
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=)
|
rs777362679
|
0.00004
|
|
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu)
|
rs1023594853
|
0.00004
|
|
NM_000089.4(COL1A2):c.378+6T>C
|
rs752336890
|
0.00004
|
|
NM_000089.4(COL1A2):c.3835A>G (p.Met1279Val)
|
rs775850964
|
0.00004
|
|
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser)
|
rs193922170
|
0.00004
|
|
NM_000089.4(COL1A2):c.48C>T (p.Thr16=)
|
rs780687409
|
0.00004
|
|
NM_000089.4(COL1A2):c.644C>T (p.Ala215Val)
|
rs753438416
|
0.00004
|
|
NM_000089.4(COL1A2):c.70+8C>T
|
rs982206007
|
0.00004
|
|
NM_000089.4(COL1A2):c.71-7T>C
|
rs774842422
|
0.00004
|
|
NM_000089.4(COL1A2):c.727G>A (p.Val243Met)
|
rs764373659
|
0.00004
|
|
NM_000089.4(COL1A2):c.783T>C (p.Pro261=)
|
rs200436925
|
0.00004
|
|
NM_000089.4(COL1A2):c.909C>T (p.Asn303=)
|
rs985639597
|
0.00004
|
|
NM_000089.4(COL1A2):c.980G>A (p.Arg327His)
|
rs764174111
|
0.00004
|
|
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=)
|
rs373908002
|
0.00004
|
|
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr)
|
rs372329498
|
0.00004
|
|
NM_000090.4(COL3A1):c.1348-13T>C
|
rs753505868
|
0.00004
|
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
0.00004
|
|
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=)
|
rs140229974
|
0.00004
|
|
NM_000090.4(COL3A1):c.2121+18C>A
|
rs587780904
|
0.00004
|
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
|
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)
|
rs534898281
|
0.00004
|
|
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=)
|
rs113870310
|
0.00004
|
|
NM_000090.4(COL3A1):c.2931+8T>C
|
rs949146538
|
0.00004
|
|
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=)
|
rs756680770
|
0.00004
|
|
NM_000090.4(COL3A1):c.3202-17G>A
|
rs769789431
|
0.00004
|
|
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
|
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)
|
rs749357239
|
0.00004
|
|
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)
|
rs769100283
|
0.00004
|
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
|
NM_000090.4(COL3A1):c.4075C>A (p.Leu1359Ile)
|
rs1400489265
|
0.00004
|
|
NM_000090.4(COL3A1):c.4159A>G (p.Lys1387Glu)
|
rs145138575
|
0.00004
|
|
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)
|
rs760482912
|
0.00004
|
|
NM_000090.4(COL3A1):c.898-20A>G
|
rs368279636
|
0.00004
|
|
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp)
|
rs757062073
|
0.00004
|
|
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln)
|
rs778497667
|
0.00004
|
|
NM_000093.5(COL5A1):c.*1788G>A
|
rs886063690
|
0.00004
|
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
0.00004
|
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
|
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln)
|
rs778297413
|
0.00004
|
|
NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser)
|
rs537950589
|
0.00004
|
|
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)
|
rs372168541
|
0.00004
|
|
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=)
|
rs746510456
|
0.00004
|
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
0.00004
|
|
NM_000093.5(COL5A1):c.1569+19C>T
|
rs373086315
|
0.00004
|
|
NM_000093.5(COL5A1):c.1569C>T (p.Pro523=)
|
rs138803413
|
0.00004
|
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
|
NM_000093.5(COL5A1):c.219C>T (p.Val73=)
|
rs774691915
|
0.00004
|
|
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=)
|
rs772257562
|
0.00004
|
|
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)
|
rs367755808
|
0.00004
|
|
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu)
|
rs138259992
|
0.00004
|
|
NM_000093.5(COL5A1):c.2286G>A (p.Pro762=)
|
rs766817444
|
0.00004
|
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
|
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val)
|
rs146870918
|
0.00004
|
|
NM_000093.5(COL5A1):c.2485-10T>C
|
rs369553063
|
0.00004
|
|
NM_000093.5(COL5A1):c.2592+17G>A
|
rs750947144
|
0.00004
|
|
NM_000093.5(COL5A1):c.2997C>T (p.Val999=)
|
rs201897490
|
0.00004
|
|
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)
|
rs370321707
|
0.00004
|
|
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=)
|
rs770802769
|
0.00004
|
|
NM_000093.5(COL5A1):c.4044C>T (p.Gly1348=)
|
rs369945188
|
0.00004
|
|
NM_000093.5(COL5A1):c.4123-20G>A
|
rs751725995
|
0.00004
|
|
NM_000093.5(COL5A1):c.4155A>G (p.Pro1385=)
|
rs1476164063
|
0.00004
|
|
NM_000093.5(COL5A1):c.4231-19G>T
|
rs1002531122
|
0.00004
|
|
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)
|
rs201335857
|
0.00004
|
|
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)
|
rs183114696
|
0.00004
|
|
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu)
|
rs369971694
|
0.00004
|
|
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)
|
rs537768945
|
0.00004
|
|
NM_000093.5(COL5A1):c.4521C>T (p.Gly1507=)
|
rs552985514
|
0.00004
|
|
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)
|
rs148687561
|
0.00004
|
|
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)
|
rs367711669
|
0.00004
|
|
NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=)
|
rs999637196
|
0.00004
|
|
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)
|
rs369501428
|
0.00004
|
|
NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser)
|
rs551016059
|
0.00004
|
|
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=)
|
rs149981025
|
0.00004
|
|
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)
|
rs199637893
|
0.00004
|
|
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met)
|
rs201771867
|
0.00004
|
|
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=)
|
rs190912679
|
0.00004
|
|
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
|
rs771354369
|
0.00004
|
|
NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=)
|
rs759203958
|
0.00004
|
|
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=)
|
rs747118500
|
0.00004
|
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
|
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp)
|
rs780400029
|
0.00004
|
|
NM_000093.5(COL5A1):c.5361C>T (p.Asp1787=)
|
rs776090002
|
0.00004
|
|
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=)
|
rs765397184
|
0.00004
|
|
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu)
|
rs770737485
|
0.00004
|
|
NM_000093.5(COL5A1):c.945G>A (p.Thr315=)
|
rs149123775
|
0.00004
|
|
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile)
|
rs762624092
|
0.00004
|
|
NM_000302.3(PLOD1):c.-64C>G
|
rs886045195
|
0.00004
|
|
NM_000302.4(PLOD1):c.1026C>T (p.Ser342=)
|
rs140159343
|
0.00004
|
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
0.00004
|
|
NM_000302.4(PLOD1):c.1302C>T (p.Tyr434=)
|
rs759448456
|
0.00004
|
|
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp)
|
rs745946511
|
0.00004
|
|
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln)
|
rs750100311
|
0.00004
|
|
NM_000302.4(PLOD1):c.1471-18C>T
|
rs368968576
|
0.00004
|
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
|
NM_000302.4(PLOD1):c.1629G>C (p.Leu543=)
|
rs764355890
|
0.00004
|
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
|
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met)
|
rs770120389
|
0.00004
|
|
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys)
|
rs576416937
|
0.00004
|
|
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val)
|
rs777096767
|
0.00004
|
|
NM_000302.4(PLOD1):c.243G>A (p.Leu81=)
|
rs371574381
|
0.00004
|
|
NM_000302.4(PLOD1):c.30G>C (p.Leu10=)
|
rs886039113
|
0.00004
|
|
NM_000302.4(PLOD1):c.438C>T (p.Ser146=)
|
rs765725567
|
0.00004
|
|
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser)
|
rs772861343
|
0.00004
|
|
NM_000302.4(PLOD1):c.614G>A (p.Arg205His)
|
rs536503346
|
0.00004
|
|
NM_000302.4(PLOD1):c.742-5G>A
|
rs746658625
|
0.00004
|
|
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)
|
rs145447578
|
0.00004
|
|
NM_000302.4(PLOD1):c.930G>A (p.Arg310=)
|
rs751800110
|
0.00004
|
|
NM_000302.4(PLOD1):c.975C>T (p.His325=)
|
rs761576315
|
0.00004
|
|
NM_000393.5(COL5A2):c.*211T>A
|
rs776264833
|
0.00004
|
|
NM_000393.5(COL5A2):c.1005+11G>A
|
rs371296580
|
0.00004
|
|
NM_000393.5(COL5A2):c.1105-18T>C
|
rs930742709
|
0.00004
|
|
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
|
rs755909523
|
0.00004
|
|
NM_000393.5(COL5A2):c.2292G>A (p.Pro764=)
|
rs751503520
|
0.00004
|
|
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val)
|
rs201022138
|
0.00004
|
|
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=)
|
rs762976916
|
0.00004
|
|
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser)
|
rs1388564782
|
0.00004
|
|
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=)
|
rs149574060
|
0.00004
|
|
NM_000393.5(COL5A2):c.3310-3T>A
|
rs752705717
|
0.00004
|
|
NM_000393.5(COL5A2):c.3525+9del
|
rs1279747855
|
0.00004
|
|
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
|
rs745845130
|
0.00004
|
|
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
|
rs201460445
|
0.00004
|
|
NM_000393.5(COL5A2):c.3613G>A (p.Val1205Ile)
|
rs377660244
|
0.00004
|
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
|
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=)
|
rs760353505
|
0.00004
|
|
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=)
|
rs199904322
|
0.00004
|
|
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=)
|
rs754605516
|
0.00004
|
|
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu)
|
rs374225489
|
0.00004
|
|
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His)
|
rs150931608
|
0.00004
|
|
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=)
|
rs142857608
|
0.00004
|
|
NM_000393.5(COL5A2):c.4453A>C (p.Thr1485Pro)
|
rs11553463
|
0.00004
|
|
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)
|
rs371225266
|
0.00004
|
|
NM_000393.5(COL5A2):c.567+7T>C
|
rs755666206
|
0.00004
|
|
NM_000393.5(COL5A2):c.744+18A>G
|
rs373820975
|
0.00004
|
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
|
NM_000393.5(COL5A2):c.907-5C>A
|
rs756538217
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.1041-15G>A
|
rs762412348
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.1046C>T (p.Ser349Phe)
|
rs376076637
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.116G>A (p.Ser39Asn)
|
rs775918761
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp)
|
rs368796707
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.132G>A (p.Thr44=)
|
rs201425631
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=)
|
rs753665968
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.23G>T (p.Gly8Val)
|
rs779570378
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.314G>A (p.Arg105His)
|
rs762900525
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.336C>T (p.Phe112=)
|
rs751302246
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.381C>T (p.Pro127=)
|
rs780281875
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.432C>T (p.Ser144=)
|
rs755503604
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.491C>T (p.Ala164Val)
|
rs914512778
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.570C>T (p.Ala190=)
|
rs767677018
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val)
|
rs750123189
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=)
|
rs752707598
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr)
|
rs370516835
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.919+7G>A
|
rs752106866
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.919+9G>A
|
rs767725133
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.933C>T (p.Pro311=)
|
rs374590960
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr)
|
rs749499150
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val)
|
rs754558033
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.972C>T (p.Thr324=)
|
rs774905397
|
0.00004
|
|
NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=)
|
rs767740137
|
0.00004
|
|
NM_001365276.2(TNXB):c.1273T>C (p.Tyr425His)
|
rs765203258
|
0.00004
|
|
NM_001365276.2(TNXB):c.1530C>T (p.Gly510=)
|
rs377075950
|
0.00004
|
|
NM_001365276.2(TNXB):c.2312C>G (p.Pro771Arg)
|
rs199705832
|
0.00004
|
|
NM_001365276.2(TNXB):c.3968G>A (p.Arg1323Gln)
|
rs766503904
|
0.00004
|
|
NM_001365276.2(TNXB):c.6100C>G (p.Pro2034Ala)
|
rs1437182181
|
0.00004
|
|
NM_001365276.2(TNXB):c.788G>A (p.Arg263His)
|
rs371229076
|
0.00004
|
|
NM_001365276.2(TNXB):c.8290G>A (p.Asp2764Asn)
|
rs1202460287
|
0.00004
|
|
NM_001365276.2(TNXB):c.9474T>G (p.Thr3158=)
|
rs528915277
|
0.00004
|
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
|
NM_001367624.2(ZNF469):c.10985G>A (p.Arg3662Gln)
|
rs562527410
|
0.00004
|
|
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys)
|
rs762894872
|
0.00004
|
|
NM_001367624.2(ZNF469):c.1719C>T (p.His573=)
|
rs552893295
|
0.00004
|
|
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)
|
rs765069829
|
0.00004
|
|
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser)
|
rs557351664
|
0.00004
|
|
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)
|
rs760014906
|
0.00004
|
|
NM_001367624.2(ZNF469):c.5825G>T (p.Gly1942Val)
|
rs977906765
|
0.00004
|
|
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=)
|
rs748097865
|
0.00004
|
|
NM_001367624.2(ZNF469):c.7837C>T (p.Arg2613Trp)
|
rs754715853
|
0.00004
|
|
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys)
|
rs540443650
|
0.00004
|
|
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)
|
rs534464702
|
0.00004
|
|
NM_001734.5(C1S):c.991C>T (p.Arg331Cys)
|
rs140488585
|
0.00004
|
|
NM_001999.4(FBN2):c.4222+10C>A
|
rs376700480
|
0.00004
|
|
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)
|
rs140812463
|
0.00004
|
|
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)
|
rs750837082
|
0.00004
|
|
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)
|
rs751378266
|
0.00004
|
|
NM_001999.4(FBN2):c.6293-8T>A
|
rs375682913
|
0.00004
|
|
NM_003238.6(TGFB2):c.555C>T (p.Ile185=)
|
rs760740958
|
0.00004
|
|
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser)
|
rs370379561
|
0.00004
|
|
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His)
|
rs755195861
|
0.00004
|
|
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)
|
rs757252832
|
0.00004
|
|
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser)
|
rs776633189
|
0.00004
|
|
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=)
|
rs371148798
|
0.00004
|
|
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)
|
rs756803766
|
0.00004
|
|
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val)
|
rs369924790
|
0.00004
|
|
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)
|
rs774882851
|
0.00004
|
|
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=)
|
rs746946822
|
0.00004
|
|
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=)
|
rs776302292
|
0.00004
|
|
NM_004370.6(COL12A1):c.2164+6A>T
|
rs746467248
|
0.00004
|
|
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)
|
rs370256196
|
0.00004
|
|
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=)
|
rs1013417237
|
0.00004
|
|
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)
|
rs201662983
|
0.00004
|
|
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
|
rs572007088
|
0.00004
|
|
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=)
|
rs191863996
|
0.00004
|
|
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly)
|
rs1180402350
|
0.00004
|
|
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=)
|
rs372499120
|
0.00004
|
|
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr)
|
rs746982506
|
0.00004
|
|
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=)
|
rs368940290
|
0.00004
|
|
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His)
|
rs79863717
|
0.00004
|
|
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala)
|
rs375221786
|
0.00004
|
|
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=)
|
rs572531941
|
0.00004
|
|
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val)
|
rs368773405
|
0.00004
|
|
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=)
|
rs371282637
|
0.00004
|
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
|
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=)
|
rs775456285
|
0.00004
|
|
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)
|
rs371112796
|
0.00004
|
|
NM_004370.6(COL12A1):c.456A>G (p.Gly152=)
|
rs761930862
|
0.00004
|
|
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp)
|
rs370360673
|
0.00004
|
|
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val)
|
rs944222774
|
0.00004
|
|
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)
|
rs180718181
|
0.00004
|
|
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile)
|
rs374525546
|
0.00004
|
|
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile)
|
rs772992461
|
0.00004
|
|
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)
|
rs771078518
|
0.00004
|
|
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met)
|
rs749368197
|
0.00004
|
|
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser)
|
rs759692428
|
0.00004
|
|
NM_004370.6(COL12A1):c.5098-13C>T
|
rs186255379
|
0.00004
|
|
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser)
|
rs201810535
|
0.00004
|
|
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)
|
rs373020081
|
0.00004
|
|
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val)
|
rs753254039
|
0.00004
|
|
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His)
|
rs748487098
|
0.00004
|
|
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)
|
rs371016672
|
0.00004
|
|
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=)
|
rs1479706901
|
0.00004
|
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
|
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile)
|
rs757737726
|
0.00004
|
|
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)
|
rs760315104
|
0.00004
|
|
NM_004370.6(COL12A1):c.546T>C (p.Val182=)
|
rs764254293
|
0.00004
|
|
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=)
|
rs747217911
|
0.00004
|
|
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys)
|
rs201372309
|
0.00004
|
|
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)
|
rs775862147
|
0.00004
|
|
NM_004370.6(COL12A1):c.588G>A (p.Gln196=)
|
rs748928908
|
0.00004
|
|
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=)
|
rs376241836
|
0.00004
|
|
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=)
|
rs754929219
|
0.00004
|
|
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=)
|
rs751540913
|
0.00004
|
|
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)
|
rs771186535
|
0.00004
|
|
NM_004370.6(COL12A1):c.633A>G (p.Pro211=)
|
rs541648868
|
0.00004
|
|
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)
|
rs553575841
|
0.00004
|
|
NM_004370.6(COL12A1):c.6607+8A>G
|
rs781751102
|
0.00004
|
|
NM_004370.6(COL12A1):c.6608-4G>A
|
rs374995108
|
0.00004
|
|
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser)
|
rs370244195
|
0.00004
|
|
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg)
|
rs1053454286
|
0.00004
|
|
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser)
|
rs747966606
|
0.00004
|
|
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val)
|
rs752850582
|
0.00004
|
|
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)
|
rs368686970
|
0.00004
|
|
NM_004370.6(COL12A1):c.7005G>C (p.Gly2335=)
|
rs760111437
|
0.00004
|
|
NM_004370.6(COL12A1):c.7086+14C>T
|
rs778933089
|
0.00004
|
|
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=)
|
rs754178898
|
0.00004
|
|
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met)
|
rs371124522
|
0.00004
|
|
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)
|
rs183898615
|
0.00004
|
|
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)
|
rs202109365
|
0.00004
|
|
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr)
|
rs757556640
|
0.00004
|
|
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser)
|
rs772870762
|
0.00004
|
|
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
|
rs778155362
|
0.00004
|
|
NM_004370.6(COL12A1):c.7950+20T>G
|
rs752468536
|
0.00004
|
|
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr)
|
rs773855825
|
0.00004
|
|
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val)
|
rs1199162597
|
0.00004
|
|
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=)
|
rs187901672
|
0.00004
|
|
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=)
|
rs761216954
|
0.00004
|
|
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln)
|
rs756809634
|
0.00004
|
|
NM_004370.6(COL12A1):c.8469+10T>C
|
rs375332527
|
0.00004
|
|
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)
|
rs369360559
|
0.00004
|
|
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)
|
rs751638930
|
0.00004
|
|
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu)
|
rs376161354
|
0.00004
|
|
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
|
rs746453262
|
0.00004
|
|
NM_005902.4(SMAD3):c.879C>T (p.Gly293=)
|
rs769683236
|
0.00004
|
|
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=)
|
rs780427259
|
0.00004
|
|
NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser)
|
rs771088509
|
0.00004
|
|
NM_007255.3(B4GALT7):c.51-13G>A
|
rs1405020049
|
0.00004
|
|
NM_007255.3(B4GALT7):c.603C>T (p.Gly201=)
|
rs374198956
|
0.00004
|
|
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys)
|
rs201489289
|
0.00004
|
|
NM_007255.3(B4GALT7):c.698G>A (p.Arg233Gln)
|
rs780268052
|
0.00004
|
|
NM_007255.3(B4GALT7):c.890G>A (p.Arg297His)
|
rs374994284
|
0.00004
|
|
NM_013352.4(DSE):c.120C>T (p.Tyr40=)
|
rs75392879
|
0.00004
|
|
NM_013352.4(DSE):c.1737C>T (p.Pro579=)
|
rs765462761
|
0.00004
|
|
NM_013352.4(DSE):c.215C>T (p.Thr72Met)
|
rs201564300
|
0.00004
|
|
NM_013352.4(DSE):c.2242C>T (p.His748Tyr)
|
rs770096528
|
0.00004
|
|
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr)
|
rs140764351
|
0.00004
|
|
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly)
|
rs377694163
|
0.00004
|
|
NM_013352.4(DSE):c.730C>T (p.Leu244=)
|
rs1041865456
|
0.00004
|
|
NM_013352.4(DSE):c.95T>C (p.Met32Thr)
|
rs140765634
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.*2035G>A
|
rs1022911243
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.*2511C>A
|
rs1265598763
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.*985C>T
|
rs187198149
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)
|
rs1402048390
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His)
|
rs201162234
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1062G>A (p.Thr354=)
|
rs745324060
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val)
|
rs1057524401
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1254C>T (p.His418=)
|
rs758041605
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1383-8C>T
|
rs748944006
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1519C>T (p.Arg507Trp)
|
rs201393333
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1520G>A (p.Arg507Gln)
|
rs148263300
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val)
|
rs768252348
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)
|
rs142275705
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=)
|
rs372661052
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2171T>A (p.Val724Glu)
|
rs761256475
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val)
|
rs201241062
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile)
|
rs777314559
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2403C>T (p.Asp801=)
|
rs374315892
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2618-18C>T
|
rs753080133
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2628C>T (p.Phe876=)
|
rs371021469
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2697G>A (p.Ser899=)
|
rs570418931
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2751-15G>A
|
rs376602983
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2959-12C>G
|
rs773920252
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.3027C>T (p.Phe1009=)
|
rs766033559
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.3345C>T (p.Asp1115=)
|
rs375463371
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.3376C>A (p.Pro1126Thr)
|
rs557070498
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.846C>T (p.His282=)
|
rs150860515
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg)
|
rs376856341
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile)
|
rs148737005
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.960C>T (p.Leu320=)
|
rs147007079
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.976-10C>A
|
rs973000351
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.997G>A (p.Gly333Arg)
|
rs483352736
|
0.00004
|
|
NM_018699.4(PRDM5):c.1043A>G (p.Tyr348Cys)
|
rs750825490
|
0.00004
|
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
|
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=)
|
rs928368471
|
0.00004
|
|
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)
|
rs786200938
|
0.00004
|
|
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=)
|
rs547484259
|
0.00004
|
|
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr)
|
rs746174922
|
0.00004
|
|
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys)
|
rs1267101770
|
0.00004
|
|
NM_130468.4(CHST14):c.111G>C (p.Pro37=)
|
rs746603977
|
0.00004
|
|
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro)
|
rs1352733612
|
0.00004
|
|
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe)
|
rs755535418
|
0.00004
|
|
NM_130468.4(CHST14):c.315G>A (p.Arg105=)
|
rs903042632
|
0.00004
|
|
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp)
|
rs368203130
|
0.00004
|
|
NM_130468.4(CHST14):c.869C>T (p.Ala290Val)
|
rs763074027
|
0.00004
|
|
NM_130468.4(CHST14):c.891C>G (p.Gly297=)
|
rs772809123
|
0.00004
|
|
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp)
|
rs927457735
|
0.00004
|
|
NM_000088.4(COL1A1):c.*1265C>T
|
rs567249120
|
0.00003
|
|
NM_000088.4(COL1A1):c.*682C>T
|
rs77720683
|
0.00003
|
|
NM_000088.4(COL1A1):c.*733G>A
|
rs886053148
|
0.00003
|
|
NM_000088.4(COL1A1):c.*795C>T
|
rs886053147
|
0.00003
|
|
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
|
rs765154255
|
0.00003
|
|
NM_000088.4(COL1A1):c.1663C>T (p.Pro555Ser)
|
rs778463556
|
0.00003
|
|
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys)
|
rs775106436
|
0.00003
|
|
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)
|
rs753683126
|
0.00003
|
|
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=)
|
rs374853330
|
0.00003
|
|
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
|
rs756297543
|
0.00003
|
|
NM_000089.4(COL1A2):c.*584A>T
|
rs1469558350
|
0.00003
|
|
NM_000089.4(COL1A2):c.*601A>G
|
rs1031022615
|
0.00003
|
|
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)
|
rs550867796
|
0.00003
|
|
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)
|
rs770497661
|
0.00003
|
|
NM_000089.4(COL1A2):c.1422C>T (p.Asp474=)
|
rs766360064
|
0.00003
|
|
NM_000089.4(COL1A2):c.150A>C (p.Pro50=)
|
rs369695645
|
0.00003
|
|
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln)
|
rs200231086
|
0.00003
|
|
NM_000089.4(COL1A2):c.1556G>A (p.Arg519Gln)
|
rs201768205
|
0.00003
|
|
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr)
|
rs41317153
|
0.00003
|
|
NM_000089.4(COL1A2):c.1804C>T (p.Pro602Ser)
|
rs906800567
|
0.00003
|
|
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala)
|
rs886062517
|
0.00003
|
|
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp)
|
rs759251034
|
0.00003
|
|
NM_000089.4(COL1A2):c.2403+7A>G
|
rs751913918
|
0.00003
|
|
NM_000089.4(COL1A2):c.2489G>A (p.Arg830Gln)
|
rs768513176
|
0.00003
|
|
NM_000089.4(COL1A2):c.2644C>T (p.Arg882Cys)
|
rs1204085246
|
0.00003
|
|
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)
|
rs751960243
|
0.00003
|
|
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser)
|
rs779303344
|
0.00003
|
|
NM_000089.4(COL1A2):c.2943+20T>C
|
rs777594155
|
0.00003
|
|
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)
|
rs200357942
|
0.00003
|
|
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His)
|
rs530026906
|
0.00003
|
|
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln)
|
rs751898427
|
0.00003
|
|
NM_000089.4(COL1A2):c.3526+10G>T
|
rs779375338
|
0.00003
|
|
NM_000089.4(COL1A2):c.3712-11A>G
|
rs748154668
|
0.00003
|
|
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)
|
rs761465504
|
0.00003
|
|
NM_000089.4(COL1A2):c.694-15T>C
|
rs779799840
|
0.00003
|
|
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)
|
rs1206388800
|
0.00003
|
|
NM_000089.4(COL1A2):c.81+10A>G
|
rs750283092
|
0.00003
|
|
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala)
|
rs752431578
|
0.00003
|
|
NM_000090.4(COL3A1):c.*406A>G
|
rs770571552
|
0.00003
|
|
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=)
|
rs778702019
|
0.00003
|
|
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
|
rs755731385
|
0.00003
|
|
NM_000090.4(COL3A1):c.1509+2T>C
|
rs1553508039
|
0.00003
|
|
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=)
|
rs946270867
|
0.00003
|
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
|
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln)
|
rs774632188
|
0.00003
|
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
|
NM_000090.4(COL3A1):c.2022+6A>T
|
rs368117488
|
0.00003
|
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
|
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser)
|
rs201468881
|
0.00003
|
|
NM_000090.4(COL3A1):c.2274T>C (p.Asp758=)
|
rs1060503872
|
0.00003
|
|
NM_000090.4(COL3A1):c.2446-10T>C
|
rs1060500195
|
0.00003
|
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
|
NM_000090.4(COL3A1):c.2608-19A>C
|
rs372917900
|
0.00003
|
|
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=)
|
rs1057524521
|
0.00003
|
|
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)
|
rs369992399
|
0.00003
|
|
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr)
|
rs776814693
|
0.00003
|
|
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser)
|
rs759565407
|
0.00003
|
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
|
NM_000090.4(COL3A1):c.39C>T (p.Leu13=)
|
rs1343634872
|
0.00003
|
|
NM_000090.4(COL3A1):c.447+13C>T
|
rs751726448
|
0.00003
|
|
NM_000090.4(COL3A1):c.708C>T (p.Pro236=)
|
rs775390389
|
0.00003
|
|
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter)
|
rs1333421028
|
0.00003
|
|
NM_000090.4(COL3A1):c.853-7T>C
|
rs377063305
|
0.00003
|
|
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val)
|
rs754503346
|
0.00003
|
|
NM_000090.4(COL3A1):c.962G>T (p.Gly321Val)
|
rs587779588
|
0.00003
|
|
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys)
|
rs769752636
|
0.00003
|
|
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr)
|
rs755289850
|
0.00003
|
|
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)
|
rs762108965
|
0.00003
|
|
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His)
|
rs767752804
|
0.00003
|
|
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=)
|
rs373846823
|
0.00003
|
|
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)
|
rs535363331
|
0.00003
|
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
|
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=)
|
rs529255491
|
0.00003
|
|
NM_000093.5(COL5A1):c.1827+11C>T
|
rs374795810
|
0.00003
|
|
NM_000093.5(COL5A1):c.192G>A (p.Thr64=)
|
rs746717050
|
0.00003
|
|
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His)
|
rs371580094
|
0.00003
|
|
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=)
|
rs186098435
|
0.00003
|
|
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu)
|
rs779540528
|
0.00003
|
|
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)
|
rs575535171
|
0.00003
|
|
NM_000093.5(COL5A1):c.2386-6G>A
|
rs373383768
|
0.00003
|
|
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=)
|
rs769239532
|
0.00003
|
|
NM_000093.5(COL5A1):c.2430+7C>A
|
rs569413440
|
0.00003
|
|
NM_000093.5(COL5A1):c.2484+6C>T
|
rs576976549
|
0.00003
|
|
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys)
|
rs762336160
|
0.00003
|
|
NM_000093.5(COL5A1):c.2706C>T (p.Thr902=)
|
rs781027757
|
0.00003
|
|
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln)
|
rs747046727
|
0.00003
|
|
NM_000093.5(COL5A1):c.2899-13G>T
|
rs761096695
|
0.00003
|
|
NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala)
|
rs759627305
|
0.00003
|
|
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
|
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=)
|
rs766208976
|
0.00003
|
|
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu)
|
rs768531108
|
0.00003
|
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
|
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)
|
rs760754491
|
0.00003
|
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
|
NM_000093.5(COL5A1):c.3529-4G>A
|
rs779064113
|
0.00003
|
|
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=)
|
rs766961124
|
0.00003
|
|
NM_000093.5(COL5A1):c.3745-17T>C
|
rs376808101
|
0.00003
|
|
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln)
|
rs141768094
|
0.00003
|
|
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=)
|
rs1233949819
|
0.00003
|
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
|
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=)
|
rs551695730
|
0.00003
|
|
NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu)
|
rs771130127
|
0.00003
|
|
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=)
|
rs773909152
|
0.00003
|
|
NM_000093.5(COL5A1):c.4069-16G>A
|
rs201267375
|
0.00003
|
|
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
|
rs749162303
|
0.00003
|
|
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)
|
rs759464073
|
0.00003
|
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
|
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=)
|
rs759256816
|
0.00003
|
|
NM_000093.5(COL5A1):c.4392+8A>G
|
rs764596365
|
0.00003
|
|
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu)
|
rs375540141
|
0.00003
|
|
NM_000093.5(COL5A1):c.4719C>T (p.Ile1573=)
|
rs966533667
|
0.00003
|
|
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=)
|
rs183904215
|
0.00003
|
|
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln)
|
rs761802703
|
0.00003
|
|
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=)
|
rs760426595
|
0.00003
|
|
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)
|
rs753433375
|
0.00003
|
|
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg)
|
rs368448060
|
0.00003
|
|
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
|
rs764763703
|
0.00003
|
|
NM_000093.5(COL5A1):c.513C>T (p.Ser171=)
|
rs754997436
|
0.00003
|
|
NM_000093.5(COL5A1):c.5262C>T (p.Asp1754=)
|
rs771317760
|
0.00003
|
|
NM_000093.5(COL5A1):c.5371-15C>T
|
rs369764872
|
0.00003
|
|
NM_000093.5(COL5A1):c.603C>T (p.Ile201=)
|
rs747624923
|
0.00003
|
|
NM_000093.5(COL5A1):c.615C>A (p.Ile205=)
|
rs201286195
|
0.00003
|
|
NM_000093.5(COL5A1):c.654+11G>A
|
rs750385038
|
0.00003
|
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
|
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)
|
rs757434449
|
0.00003
|
|
NM_000093.5(COL5A1):c.735C>T (p.Asp245=)
|
rs746769184
|
0.00003
|
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
|
NM_000302.4(PLOD1):c.*148C>G
|
rs886045211
|
0.00003
|
|
NM_000302.4(PLOD1):c.-39G>T
|
rs769995450
|
0.00003
|
|
NM_000302.4(PLOD1):c.1098-3C>T
|
rs541901674
|
0.00003
|
|
NM_000302.4(PLOD1):c.1110G>A (p.Arg370=)
|
rs148644646
|
0.00003
|
|
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=)
|
rs771685198
|
0.00003
|
|
NM_000302.4(PLOD1):c.1194A>G (p.Gln398=)
|
rs755978483
|
0.00003
|
|
NM_000302.4(PLOD1):c.1197G>A (p.Gln399=)
|
rs753853335
|
0.00003
|
|
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg)
|
rs373446893
|
0.00003
|
|
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys)
|
rs370790682
|
0.00003
|
|
NM_000302.4(PLOD1):c.1293C>T (p.Ser431=)
|
rs776976856
|
0.00003
|
|
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys)
|
rs138698098
|
0.00003
|
|
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu)
|
rs754569828
|
0.00003
|
|
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val)
|
rs369696269
|
0.00003
|
|
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp)
|
rs748646169
|
0.00003
|
|
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu)
|
rs775321665
|
0.00003
|
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
|
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys)
|
rs146092290
|
0.00003
|
|
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter)
|
rs121913554
|
0.00003
|
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
|
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser)
|
rs747393648
|
0.00003
|
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
|
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile)
|
rs370498584
|
0.00003
|
|
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys)
|
rs754650948
|
0.00003
|
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
|
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn)
|
rs774590964
|
0.00003
|
|
NM_000302.4(PLOD1):c.336G>A (p.Glu112=)
|
rs746999816
|
0.00003
|
|
NM_000302.4(PLOD1):c.407G>A (p.Arg136His)
|
rs148510973
|
0.00003
|
|
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys)
|
rs780519821
|
0.00003
|
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
|
NM_000302.4(PLOD1):c.684G>A (p.Ala228=)
|
rs183225496
|
0.00003
|
|
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe)
|
rs777914756
|
0.00003
|
|
NM_000302.4(PLOD1):c.774G>A (p.Pro258=)
|
rs753994916
|
0.00003
|
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
|
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu)
|
rs1056398577
|
0.00003
|
|
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met)
|
rs879902079
|
0.00003
|
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
|
NM_000393.5(COL5A2):c.1006-8G>A
|
rs200405052
|
0.00003
|
|
NM_000393.5(COL5A2):c.1059+8T>C
|
rs200968159
|
0.00003
|
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
|
NM_000393.5(COL5A2):c.1159-7C>A
|
rs377321742
|
0.00003
|
|
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val)
|
rs370121305
|
0.00003
|
|
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)
|
rs149305351
|
0.00003
|
|
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu)
|
rs1051400743
|
0.00003
|
|
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr)
|
rs746339285
|
0.00003
|
|
NM_000393.5(COL5A2):c.1869+17A>G
|
rs776780834
|
0.00003
|
|
NM_000393.5(COL5A2):c.1923+11A>G
|
rs368776400
|
0.00003
|
|
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser)
|
rs773726323
|
0.00003
|
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
|
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys)
|
rs201961021
|
0.00003
|
|
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
|
rs267599127
|
0.00003
|
|
NM_000393.5(COL5A2):c.3148-15C>T
|
rs901541312
|
0.00003
|
|
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His)
|
rs1039715132
|
0.00003
|
|
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)
|
rs151187317
|
0.00003
|
|
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys)
|
rs747946828
|
0.00003
|
|
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn)
|
rs750574093
|
0.00003
|
|
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu)
|
rs753383064
|
0.00003
|
|
NM_000393.5(COL5A2):c.3717C>T (p.His1239=)
|
rs769790821
|
0.00003
|
|
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=)
|
rs767144730
|
0.00003
|
|
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)
|
rs747653593
|
0.00003
|
|
NM_000393.5(COL5A2):c.399G>A (p.Pro133=)
|
rs369867930
|
0.00003
|
|
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His)
|
rs143163673
|
0.00003
|
|
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser)
|
rs145755198
|
0.00003
|
|
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)
|
rs1436390158
|
0.00003
|
|
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)
|
rs762653511
|
0.00003
|
|
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)
|
rs756550702
|
0.00003
|
|
NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr)
|
rs753194366
|
0.00003
|
|
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)
|
rs761481937
|
0.00003
|
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
|
NM_000393.5(COL5A2):c.537G>A (p.Pro179=)
|
rs762891893
|
0.00003
|
|
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr)
|
rs758156613
|
0.00003
|
|
NM_000393.5(COL5A2):c.691-4G>A
|
rs767803370
|
0.00003
|
|
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr)
|
rs148005959
|
0.00003
|
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
|
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)
|
rs781864075
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys)
|
rs766701277
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=)
|
rs768720700
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly)
|
rs377518253
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.405C>T (p.Ser135=)
|
rs371063274
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.627C>T (p.Ala209=)
|
rs768982611
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.736-18C>T
|
rs761758087
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.786+6C>T
|
rs779162662
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.919+4C>T
|
rs368667805
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.930T>C (p.Ser310=)
|
rs371311030
|
0.00003
|
|
NM_001129.5(AEBP1):c.1141G>C (p.Glu381Gln)
|
rs202186949
|
0.00003
|
|
NM_001365276.2(TNXB):c.10803C>T (p.Leu3601=)
|
rs759124319
|
0.00003
|
|
NM_001365276.2(TNXB):c.1808G>A (p.Gly603Asp)
|
rs753344187
|
0.00003
|
|
NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp)
|
rs1232589427
|
0.00003
|
|
NM_001365276.2(TNXB):c.3033C>T (p.Asp1011=)
|
rs756743577
|
0.00003
|
|
NM_001365276.2(TNXB):c.3075G>A (p.Pro1025=)
|
rs760709480
|
0.00003
|
|
NM_001365276.2(TNXB):c.7449C>T (p.His2483=)
|
rs769682713
|
0.00003
|
|
NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr)
|
rs1478498254
|
0.00003
|
|
NM_001365276.2(TNXB):c.9579C>T (p.Phe3193=)
|
rs773892921
|
0.00003
|
|
NM_001365276.2(TNXB):c.9899A>G (p.Gln3300Arg)
|
rs776725505
|
0.00003
|
|
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp)
|
rs1394199246
|
0.00003
|
|
NM_001367624.2(ZNF469):c.10611G>A (p.Pro3537=)
|
rs774846173
|
0.00003
|
|
NM_001367624.2(ZNF469):c.11022G>A (p.Ala3674=)
|
rs1002770054
|
0.00003
|
|
NM_001367624.2(ZNF469):c.11278G>A (p.Glu3760Lys)
|
rs547014159
|
0.00003
|
|
NM_001367624.2(ZNF469):c.11444C>T (p.Thr3815Met)
|
rs1057518368
|
0.00003
|
|
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg)
|
rs886052421
|
0.00003
|
|
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=)
|
rs886052392
|
0.00003
|
|
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)
|
rs886052393
|
0.00003
|
|
NM_001367624.2(ZNF469):c.2395T>C (p.Leu799=)
|
rs1010145375
|
0.00003
|
|
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu)
|
rs768864900
|
0.00003
|
|
NM_001367624.2(ZNF469):c.6474C>T (p.Asp2158=)
|
rs1350203416
|
0.00003
|
|
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=)
|
rs574024256
|
0.00003
|
|
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)
|
rs745468033
|
0.00003
|
|
NM_001367624.2(ZNF469):c.9124C>T (p.Arg3042Cys)
|
rs546845105
|
0.00003
|
|
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser)
|
rs886052418
|
0.00003
|
|
NM_001367624.2(ZNF469):c.9846A>T (p.Pro3282=)
|
rs1229855515
|
0.00003
|
|
NM_001734.5(C1S):c.347A>G (p.Asn116Ser)
|
rs782390414
|
0.00003
|
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
|
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)
|
rs371397121
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1473G>A (p.Val491=)
|
rs752287982
|
0.00003
|
|
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)
|
rs757051948
|
0.00003
|
|
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)
|
rs202175607
|
0.00003
|
|
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr)
|
rs201085951
|
0.00003
|
|
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His)
|
rs775010013
|
0.00003
|
|
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=)
|
rs780442166
|
0.00003
|
|
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
|
rs1235556906
|
0.00003
|
|
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=)
|
rs1318149393
|
0.00003
|
|
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=)
|
rs780620827
|
0.00003
|
|
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala)
|
rs775809424
|
0.00003
|
|
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val)
|
rs1202850966
|
0.00003
|
|
NM_004370.6(COL12A1):c.2165-8T>C
|
rs909913796
|
0.00003
|
|
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu)
|
rs199503279
|
0.00003
|
|
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln)
|
rs377480187
|
0.00003
|
|
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala)
|
rs370684538
|
0.00003
|
|
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile)
|
rs375704787
|
0.00003
|
|
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg)
|
rs1357325121
|
0.00003
|
|
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu)
|
rs201382636
|
0.00003
|
|
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)
|
rs768127770
|
0.00003
|
|
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val)
|
rs1188543260
|
0.00003
|
|
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg)
|
rs762817385
|
0.00003
|
|
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)
|
rs373637483
|
0.00003
|
|
NM_004370.6(COL12A1):c.3566-8C>A
|
rs201709757
|
0.00003
|
|
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)
|
rs536615203
|
0.00003
|
|
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn)
|
rs767422633
|
0.00003
|
|
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)
|
rs774035582
|
0.00003
|
|
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)
|
rs377553583
|
0.00003
|
|
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys)
|
rs978290681
|
0.00003
|
|
NM_004370.6(COL12A1):c.4000+4C>G
|
rs375772555
|
0.00003
|
|
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
|
rs200125060
|
0.00003
|
|
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu)
|
rs773936793
|
0.00003
|
|
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly)
|
rs201651899
|
0.00003
|
|
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)
|
rs751419788
|
0.00003
|
|
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
|
rs373216375
|
0.00003
|
|
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)
|
rs373826197
|
0.00003
|
|
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)
|
rs373006852
|
0.00003
|
|
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys)
|
rs780206104
|
0.00003
|
|
NM_004370.6(COL12A1):c.492T>C (p.Ala164=)
|
rs748734386
|
0.00003
|
|
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp)
|
rs548889128
|
0.00003
|
|
NM_004370.6(COL12A1):c.5394+10T>A
|
rs890398079
|
0.00003
|
|
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=)
|
rs372356221
|
0.00003
|
|
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)
|
rs565471668
|
0.00003
|
|
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile)
|
rs778672810
|
0.00003
|
|
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His)
|
rs751986784
|
0.00003
|
|
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=)
|
rs199632288
|
0.00003
|
|
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg)
|
rs774159573
|
0.00003
|
|
NM_004370.6(COL12A1):c.6141T>C (p.His2047=)
|
rs773648194
|
0.00003
|
|
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr)
|
rs755180015
|
0.00003
|
|
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu)
|
rs771019349
|
0.00003
|
|
NM_004370.6(COL12A1):c.6947-6T>C
|
rs200538799
|
0.00003
|
|
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu)
|
rs755159927
|
0.00003
|
|
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=)
|
rs373585140
|
0.00003
|
|
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=)
|
rs775579405
|
0.00003
|
|
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=)
|
rs368616942
|
0.00003
|
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
|
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser)
|
rs766046177
|
0.00003
|
|
NM_004370.6(COL12A1):c.8578-4G>A
|
rs780000164
|
0.00003
|
|
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=)
|
rs900917198
|
0.00003
|
|
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=)
|
rs751804493
|
0.00003
|
|
NM_004370.6(COL12A1):c.8686-5A>T
|
rs749754621
|
0.00003
|
|
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=)
|
rs768543325
|
0.00003
|
|
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)
|
rs375094592
|
0.00003
|
|
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=)
|
rs757106110
|
0.00003
|
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
|
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)
|
rs1206533102
|
0.00003
|
|
NM_007255.3(B4GALT7):c.273C>T (p.Gly91=)
|
rs375667092
|
0.00003
|
|
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)
|
rs138496419
|
0.00003
|
|
NM_007255.3(B4GALT7):c.517C>T (p.Leu173=)
|
rs373068387
|
0.00003
|
|
NM_007255.3(B4GALT7):c.829-14C>G
|
rs199973542
|
0.00003
|
|
NM_007255.3(B4GALT7):c.850G>A (p.Glu284Lys)
|
rs765821414
|
0.00003
|
|
NM_013352.4(DSE):c.1140G>A (p.Ser380=)
|
rs756171586
|
0.00003
|
|
NM_013352.4(DSE):c.136C>T (p.Leu46=)
|
rs754023509
|
0.00003
|
|
NM_013352.4(DSE):c.1841A>G (p.Tyr614Cys)
|
rs749683894
|
0.00003
|
|
NM_013352.4(DSE):c.753G>A (p.Thr251=)
|
rs769250716
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.*2270C>T
|
rs886060483
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.*2589T>G
|
rs886060482
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.*2724A>G
|
rs886060481
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.*843G>A
|
rs778909760
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys)
|
rs751283120
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.1185C>T (p.Asn395=)
|
rs779543980
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.1323C>T (p.Ala441=)
|
rs781602081
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu)
|
rs1019548575
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.1641A>G (p.Lys547=)
|
rs776592829
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.1802C>T (p.Ser601Leu)
|
rs778186590
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.1902C>T (p.Phe634=)
|
rs769205569
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2034G>A (p.Thr678=)
|
rs139943837
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2086-3C>T
|
rs756427989
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)
|
rs560354978
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2451C>T (p.Thr817=)
|
rs138564815
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2530G>A (p.Asp844Asn)
|
rs764687535
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2618-20G>A
|
rs756658312
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val)
|
rs141654276
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=)
|
rs373304304
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=)
|
rs768390657
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2943C>T (p.Ala981=)
|
rs139382256
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2958+5G>A
|
rs370239549
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3045G>A (p.Glu1015=)
|
rs776489447
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3059C>T (p.Ala1020Val)
|
rs1309222711
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu)
|
rs778184902
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=)
|
rs766731589
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3326C>T (p.Pro1109Leu)
|
rs777170469
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3397C>T (p.Arg1133Trp)
|
rs545409845
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3398G>A (p.Arg1133Gln)
|
rs761111411
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg)
|
rs141541318
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter)
|
rs781618824
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.40C>T (p.Pro14Ser)
|
rs918053466
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile)
|
rs777436451
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=)
|
rs761444202
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln)
|
rs763524702
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser)
|
rs146217716
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.773G>A (p.Arg258His)
|
rs1057524562
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.891+9G>A
|
rs749508251
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu)
|
rs1407363425
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.976-8C>T
|
rs745799902
|
0.00003
|
|
NM_017946.4(FKBP14):c.518C>T (p.Ala173Val)
|
rs757164371
|
0.00003
|
|
NM_017946.4(FKBP14):c.92T>C (p.Val31Ala)
|
rs372805238
|
0.00003
|
|
NM_018699.4(PRDM5):c.182G>A (p.Arg61His)
|
rs777432357
|
0.00003
|
|
NM_018699.4(PRDM5):c.650+5G>A
|
rs754469516
|
0.00003
|
|
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=)
|
rs1204837935
|
0.00003
|
|
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=)
|
rs963500907
|
0.00003
|
|
NM_080605.4(B3GALT6):c.576C>T (p.Val192=)
|
rs762952410
|
0.00003
|
|
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val)
|
rs778444849
|
0.00003
|
|
NM_080605.4(B3GALT6):c.667G>A (p.Asp223Asn)
|
rs548246291
|
0.00003
|
|
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met)
|
rs775252357
|
0.00003
|
|
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp)
|
rs371189136
|
0.00003
|
|
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala)
|
rs778069410
|
0.00003
|
|
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu)
|
rs1321331803
|
0.00003
|
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
|
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)
|
rs1557239138
|
0.00002
|
|
NM_000088.4(COL1A1):c.*251dup
|
rs886053154
|
0.00002
|
|
NM_000088.4(COL1A1):c.*93A>G
|
rs367971695
|
0.00002
|
|
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
|
rs543735501
|
0.00002
|
|
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)
|
rs756337302
|
0.00002
|
|
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)
|
rs72656307
|
0.00002
|
|
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)
|
rs757759451
|
0.00002
|
|
NM_000089.4(COL1A2):c.1036-10T>C
|
rs1363231522
|
0.00002
|
|
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser)
|
rs201463779
|
0.00002
|
|
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)
|
rs753455668
|
0.00002
|
|
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu)
|
rs772238510
|
0.00002
|
|
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=)
|
rs768981392
|
0.00002
|
|
NM_000089.4(COL1A2):c.1404+4A>C
|
rs369907691
|
0.00002
|
|
NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly)
|
rs766488808
|
0.00002
|
|
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His)
|
rs754443174
|
0.00002
|
|
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His)
|
rs746187799
|
0.00002
|
|
NM_000089.4(COL1A2):c.2382G>A (p.Arg794=)
|
rs754562962
|
0.00002
|
|
NM_000089.4(COL1A2):c.2673+10T>A
|
rs747098214
|
0.00002
|
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
|
NM_000089.4(COL1A2):c.2782-20T>C
|
rs369687449
|
0.00002
|
|
NM_000089.4(COL1A2):c.280-8C>T
|
rs371996944
|
0.00002
|
|
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)
|
rs559605075
|
0.00002
|
|
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile)
|
rs752207083
|
0.00002
|
|
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn)
|
rs779934676
|
0.00002
|
|
NM_000089.4(COL1A2):c.3108T>C (p.Gly1036=)
|
rs768992682
|
0.00002
|
|
NM_000089.4(COL1A2):c.3261C>T (p.Gly1087=)
|
rs142518265
|
0.00002
|
|
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His)
|
rs764327381
|
0.00002
|
|
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn)
|
rs754149044
|
0.00002
|
|
NM_000089.4(COL1A2):c.3852C>A (p.Gly1284=)
|
rs663
|
0.00002
|
|
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys)
|
rs781721538
|
0.00002
|
|
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His)
|
rs748714040
|
0.00002
|
|
NM_000089.4(COL1A2):c.430G>A (p.Asp144Asn)
|
rs981008420
|
0.00002
|
|
NM_000089.4(COL1A2):c.639+20T>C
|
rs771890345
|
0.00002
|
|
NM_000089.4(COL1A2):c.647G>A (p.Arg216His)
|
rs756743425
|
0.00002
|
|
NM_000089.4(COL1A2):c.657T>G (p.Pro219=)
|
rs771837515
|
0.00002
|
|
NM_000089.4(COL1A2):c.670C>A (p.Arg224Ser)
|
rs763047559
|
0.00002
|
|
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr)
|
rs375401215
|
0.00002
|
|
NM_000089.4(COL1A2):c.693+7G>T
|
rs759896464
|
0.00002
|
|
NM_000089.4(COL1A2):c.694-19C>T
|
rs758082806
|
0.00002
|
|
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr)
|
rs141075408
|
0.00002
|
|
NM_000090.4(COL3A1):c.*89G>A
|
rs886055335
|
0.00002
|
|
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=)
|
rs373392096
|
0.00002
|
|
NM_000090.4(COL3A1):c.1234G>T (p.Ala412Ser)
|
rs768314657
|
0.00002
|
|
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)
|
rs1021622002
|
0.00002
|
|
NM_000090.4(COL3A1):c.1464T>C (p.Pro488=)
|
rs377706172
|
0.00002
|
|
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)
|
rs759650260
|
0.00002
|
|
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys)
|
rs1485092842
|
0.00002
|
|
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=)
|
rs1373257114
|
0.00002
|
|
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=)
|
rs141128796
|
0.00002
|
|
NM_000090.4(COL3A1):c.186C>T (p.Cys62=)
|
rs764749176
|
0.00002
|
|
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser)
|
rs747419192
|
0.00002
|
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
|
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)
|
rs769039976
|
0.00002
|
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
|
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=)
|
rs746947080
|
0.00002
|
|
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys)
|
rs863223362
|
0.00002
|
|
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=)
|
rs772997837
|
0.00002
|
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
|
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=)
|
rs886038982
|
0.00002
|
|
NM_000090.4(COL3A1):c.2608-10C>T
|
rs1217009146
|
0.00002
|
|
NM_000090.4(COL3A1):c.2823+20T>A
|
rs577105300
|
0.00002
|
|
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=)
|
rs41264441
|
0.00002
|
|
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala)
|
rs777180110
|
0.00002
|
|
NM_000090.4(COL3A1):c.300T>C (p.Asn100=)
|
rs776373729
|
0.00002
|
|
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=)
|
rs151192026
|
0.00002
|
|
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=)
|
rs778417073
|
0.00002
|
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
|
NM_000090.4(COL3A1):c.3411C>T (p.Gly1137=)
|
rs776330422
|
0.00002
|
|
NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=)
|
rs776077444
|
0.00002
|
|
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr)
|
rs147054108
|
0.00002
|
|
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
|
rs369494336
|
0.00002
|
|
NM_000090.4(COL3A1):c.3526-16G>A
|
rs373856456
|
0.00002
|
|
NM_000090.4(COL3A1):c.3574G>A (p.Ala1192Thr)
|
rs141587182
|
0.00002
|
|
NM_000090.4(COL3A1):c.3629G>A (p.Gly1210Asp)
|
rs749543804
|
0.00002
|
|
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu)
|
rs763901831
|
0.00002
|
|
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His)
|
rs368119434
|
0.00002
|
|
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val)
|
rs148387626
|
0.00002
|
|
NM_000090.4(COL3A1):c.4011+3A>G
|
rs112254545
|
0.00002
|
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
|
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=)
|
rs113753099
|
0.00002
|
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
0.00002
|
|
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=)
|
rs758221289
|
0.00002
|
|
NM_000090.4(COL3A1):c.432C>T (p.Cys144=)
|
rs539430522
|
0.00002
|
|
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=)
|
rs376207711
|
0.00002
|
|
NM_000090.4(COL3A1):c.4341T>C (p.Tyr1447=)
|
rs773400185
|
0.00002
|
|
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr)
|
rs932369090
|
0.00002
|
|
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile)
|
rs561556753
|
0.00002
|
|
NM_000090.4(COL3A1):c.528+9A>T
|
rs746532251
|
0.00002
|
|
NM_000090.4(COL3A1):c.582+12C>T
|
rs41272799
|
0.00002
|
|
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
|
NM_000090.4(COL3A1):c.690+15C>T
|
rs374426800
|
0.00002
|
|
NM_000090.4(COL3A1):c.691-8C>G
|
rs749433733
|
0.00002
|
|
NM_000090.4(COL3A1):c.696A>G (p.Glu232=)
|
rs193922177
|
0.00002
|
|
NM_000090.4(COL3A1):c.804C>T (p.Phe268=)
|
rs267599121
|
0.00002
|
|
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys)
|
rs138818489
|
0.00002
|
|
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)
|
rs753589858
|
0.00002
|
|
NM_000090.4(COL3A1):c.969C>T (p.Asp323=)
|
rs779278835
|
0.00002
|
|
NM_000093.5(COL5A1):c.*1787G>A
|
rs886063689
|
0.00002
|
|
NM_000093.5(COL5A1):c.1122C>T (p.Ala374=)
|
rs758640551
|
0.00002
|
|
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn)
|
rs148288567
|
0.00002
|
|
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala)
|
rs747758069
|
0.00002
|
|
NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val)
|
rs537424110
|
0.00002
|
|
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val)
|
rs752746395
|
0.00002
|
|
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)
|
rs763456705
|
0.00002
|
|
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=)
|
rs745575705
|
0.00002
|
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
|
NM_000093.5(COL5A1):c.1332+20C>T
|
rs935688642
|
0.00002
|
|
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys)
|
rs755546104
|
0.00002
|
|
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu)
|
rs201375465
|
0.00002
|
|
NM_000093.5(COL5A1):c.1431+10C>T
|
rs1176378428
|
0.00002
|
|
NM_000093.5(COL5A1):c.1431+11G>A
|
rs768116740
|
0.00002
|
|
NM_000093.5(COL5A1):c.1495-3C>T
|
rs943808454
|
0.00002
|
|
NM_000093.5(COL5A1):c.1508G>A (p.Arg503His)
|
rs146716315
|
0.00002
|
|
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)
|
rs375762619
|
0.00002
|
|
NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn)
|
rs779170635
|
0.00002
|
|
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg)
|
rs1131691360
|
0.00002
|
|
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=)
|
rs148094039
|
0.00002
|
|
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=)
|
rs761257919
|
0.00002
|
|
NM_000093.5(COL5A1):c.1827+16G>A
|
rs745897562
|
0.00002
|
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
|
NM_000093.5(COL5A1):c.1882-20C>G
|
rs774254944
|
0.00002
|
|
NM_000093.5(COL5A1):c.1899C>T (p.Asp633=)
|
rs757951119
|
0.00002
|
|
NM_000093.5(COL5A1):c.2088+15C>T
|
rs896840592
|
0.00002
|
|
NM_000093.5(COL5A1):c.2133+18C>T
|
rs751486483
|
0.00002
|
|
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile)
|
rs148793863
|
0.00002
|
|
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
|
rs766839110
|
0.00002
|
|
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
|
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=)
|
rs373285312
|
0.00002
|
|
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=)
|
rs763634004
|
0.00002
|
|
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=)
|
rs767014646
|
0.00002
|
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
|
NM_000093.5(COL5A1):c.2646+18T>A
|
rs754790166
|
0.00002
|
|
NM_000093.5(COL5A1):c.2694C>T (p.Gly898=)
|
rs139394549
|
0.00002
|
|
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu)
|
rs780406577
|
0.00002
|
|
NM_000093.5(COL5A1):c.2715G>A (p.Lys905=)
|
rs533217850
|
0.00002
|
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
|
NM_000093.5(COL5A1):c.2808C>T (p.Ser936=)
|
rs142849628
|
0.00002
|
|
NM_000093.5(COL5A1):c.2895C>G (p.Pro965=)
|
rs765189446
|
0.00002
|
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
|
NM_000093.5(COL5A1):c.2952+9C>T
|
rs955068180
|
0.00002
|
|
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)
|
rs780601499
|
0.00002
|
|
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His)
|
rs754184016
|
0.00002
|
|
NM_000093.5(COL5A1):c.3258+7C>A
|
rs750710374
|
0.00002
|
|
NM_000093.5(COL5A1):c.3366+18T>C
|
rs751538872
|
0.00002
|
|
NM_000093.5(COL5A1):c.3483C>T (p.Ile1161=)
|
rs576483507
|
0.00002
|
|
NM_000093.5(COL5A1):c.3599C>T (p.Pro1200Leu)
|
rs781363147
|
0.00002
|
|
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu)
|
rs1198718473
|
0.00002
|
|
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=)
|
rs748000980
|
0.00002
|
|
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=)
|
rs377422775
|
0.00002
|
|
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=)
|
rs779638584
|
0.00002
|
|
NM_000093.5(COL5A1):c.3774A>G (p.Gly1258=)
|
rs938941709
|
0.00002
|
|
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)
|
rs762625123
|
0.00002
|
|
NM_000093.5(COL5A1):c.3852+3G>A
|
rs1220391738
|
0.00002
|
|
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys)
|
rs149717587
|
0.00002
|
|
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=)
|
rs745918663
|
0.00002
|
|
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser)
|
rs769814019
|
0.00002
|
|
NM_000093.5(COL5A1):c.3906+7G>A
|
rs200333878
|
0.00002
|
|
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=)
|
rs1057524173
|
0.00002
|
|
NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=)
|
rs951777673
|
0.00002
|
|
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=)
|
rs145101509
|
0.00002
|
|
NM_000093.5(COL5A1):c.420C>T (p.Tyr140=)
|
rs540553997
|
0.00002
|
|
NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln)
|
rs758650140
|
0.00002
|
|
NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr)
|
rs773125713
|
0.00002
|
|
NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu)
|
rs773728118
|
0.00002
|
|
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His)
|
rs373653069
|
0.00002
|
|
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu)
|
rs863223459
|
0.00002
|
|
NM_000093.5(COL5A1):c.4608+19C>T
|
rs200797820
|
0.00002
|
|
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)
|
rs863223460
|
0.00002
|
|
NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu)
|
rs780846555
|
0.00002
|
|
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu)
|
rs1297565068
|
0.00002
|
|
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=)
|
rs370009851
|
0.00002
|
|
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val)
|
rs528826181
|
0.00002
|
|
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)
|
rs546865410
|
0.00002
|
|
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)
|
rs863223481
|
0.00002
|
|
NM_000093.5(COL5A1):c.4819G>A (p.Gly1607Ser)
|
rs753525012
|
0.00002
|
|
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)
|
rs772523567
|
0.00002
|
|
NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys)
|
rs747427505
|
0.00002
|
|
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)
|
rs558906147
|
0.00002
|
|
NM_000093.5(COL5A1):c.4940C>T (p.Pro1647Leu)
|
rs140669047
|
0.00002
|
|
NM_000093.5(COL5A1):c.4955-13C>T
|
rs770897242
|
0.00002
|
|
NM_000093.5(COL5A1):c.5029G>A (p.Gly1677Arg)
|
rs768184058
|
0.00002
|
|
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=)
|
rs371875408
|
0.00002
|
|
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
|
rs193275092
|
0.00002
|
|
NM_000093.5(COL5A1):c.5193G>A (p.Leu1731=)
|
rs751537287
|
0.00002
|
|
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
|
rs767300218
|
0.00002
|
|
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)
|
rs747231282
|
0.00002
|
|
NM_000093.5(COL5A1):c.526A>C (p.Asn176His)
|
rs369396868
|
0.00002
|
|
NM_000093.5(COL5A1):c.5281G>A (p.Asp1761Asn)
|
rs773055539
|
0.00002
|
|
NM_000093.5(COL5A1):c.528T>C (p.Asn176=)
|
rs769674770
|
0.00002
|
|
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His)
|
rs150608071
|
0.00002
|
|
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser)
|
rs1060502260
|
0.00002
|
|
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=)
|
rs764817290
|
0.00002
|
|
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser)
|
rs781230603
|
0.00002
|
|
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)
|
rs746104317
|
0.00002
|
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
|
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=)
|
rs200515325
|
0.00002
|
|
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=)
|
rs140744620
|
0.00002
|
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
|
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=)
|
rs768460206
|
0.00002
|
|
NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser)
|
rs773709219
|
0.00002
|
|
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)
|
rs761259908
|
0.00002
|
|
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn)
|
rs781248560
|
0.00002
|
|
NM_000093.5(COL5A1):c.655-16G>A
|
rs371301230
|
0.00002
|
|
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=)
|
rs755056846
|
0.00002
|
|
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val)
|
rs763906693
|
0.00002
|
|
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met)
|
rs371223839
|
0.00002
|
|
NM_000302.4(PLOD1):c.1202+7C>T
|
rs1264171984
|
0.00002
|
|
NM_000302.4(PLOD1):c.128G>A (p.Arg43His)
|
rs141704997
|
0.00002
|
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
|
NM_000302.4(PLOD1):c.1554C>T (p.Asn518=)
|
rs759491848
|
0.00002
|
|
NM_000302.4(PLOD1):c.1651-10C>T
|
rs755961387
|
0.00002
|
|
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln)
|
rs150184664
|
0.00002
|
|
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu)
|
rs1485759254
|
0.00002
|
|
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser)
|
rs761352524
|
0.00002
|
|
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser)
|
rs764750668
|
0.00002
|
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
|
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu)
|
rs1085307517
|
0.00002
|
|
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln)
|
rs1282397747
|
0.00002
|
|
NM_000302.4(PLOD1):c.2013C>T (p.Val671=)
|
rs541261242
|
0.00002
|
|
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)
|
rs773756799
|
0.00002
|
|
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met)
|
rs377406897
|
0.00002
|
|
NM_000302.4(PLOD1):c.302+5G>A
|
rs749607584
|
0.00002
|
|
NM_000302.4(PLOD1):c.310G>A (p.Val104Met)
|
rs141809154
|
0.00002
|
|
NM_000302.4(PLOD1):c.354G>A (p.Arg118=)
|
rs746072884
|
0.00002
|
|
NM_000302.4(PLOD1):c.355C>A (p.Gln119Lys)
|
rs769620321
|
0.00002
|
|
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr)
|
rs1156606108
|
0.00002
|
|
NM_000302.4(PLOD1):c.466+12G>T
|
rs774213935
|
0.00002
|
|
NM_000302.4(PLOD1):c.570G>A (p.Pro190=)
|
rs776173072
|
0.00002
|
|
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp)
|
rs746416126
|
0.00002
|
|
NM_000302.4(PLOD1):c.70C>T (p.Pro24Ser)
|
rs1395571164
|
0.00002
|
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
|
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln)
|
rs776949094
|
0.00002
|
|
NM_000302.4(PLOD1):c.834G>A (p.Lys278=)
|
rs557353959
|
0.00002
|
|
NM_000302.4(PLOD1):c.844-6G>T
|
rs767068264
|
0.00002
|
|
NM_000302.4(PLOD1):c.861G>A (p.Thr287=)
|
rs747570972
|
0.00002
|
|
NM_000302.4(PLOD1):c.882C>T (p.Ile294=)
|
rs747668784
|
0.00002
|
|
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu)
|
rs760230526
|
0.00002
|
|
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp)
|
rs370736543
|
0.00002
|
|
NM_000302.4(PLOD1):c.939C>T (p.Tyr313=)
|
rs1411565422
|
0.00002
|
|
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser)
|
rs200524993
|
0.00002
|
|
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr)
|
rs200839338
|
0.00002
|
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
|
NM_000393.5(COL5A2):c.1564-8A>T
|
rs776187028
|
0.00002
|
|
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser)
|
rs200205564
|
0.00002
|
|
NM_000393.5(COL5A2):c.1618-7G>A
|
rs77456219
|
0.00002
|
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
|
NM_000393.5(COL5A2):c.1716+13C>G
|
rs779517028
|
0.00002
|
|
NM_000393.5(COL5A2):c.1717-3C>T
|
rs760304144
|
0.00002
|
|
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=)
|
rs765364009
|
0.00002
|
|
NM_000393.5(COL5A2):c.2031+3A>G
|
rs201947903
|
0.00002
|
|
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser)
|
rs372270389
|
0.00002
|
|
NM_000393.5(COL5A2):c.2446-17T>G
|
rs774566945
|
0.00002
|
|
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser)
|
rs372904150
|
0.00002
|
|
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=)
|
rs375877757
|
0.00002
|
|
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg)
|
rs1286805423
|
0.00002
|
|
NM_000393.5(COL5A2):c.2661+13G>T
|
rs534626192
|
0.00002
|
|
NM_000393.5(COL5A2):c.2662-13T>G
|
rs764874823
|
0.00002
|
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
|
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg)
|
rs374402209
|
0.00002
|
|
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=)
|
rs1060504380
|
0.00002
|
|
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser)
|
rs909634945
|
0.00002
|
|
NM_000393.5(COL5A2):c.3040-8T>C
|
rs886055355
|
0.00002
|
|
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser)
|
rs773168254
|
0.00002
|
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
|
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val)
|
rs766499543
|
0.00002
|
|
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
|
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)
|
rs748601646
|
0.00002
|
|
NM_000393.5(COL5A2):c.3363+18G>T
|
rs1465568437
|
0.00002
|
|
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)
|
rs144890303
|
0.00002
|
|
NM_000393.5(COL5A2):c.3471+3A>G
|
rs929722223
|
0.00002
|
|
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser)
|
rs780899667
|
0.00002
|
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
|
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
|
rs1243023432
|
0.00002
|
|
NM_000393.5(COL5A2):c.3792G>A (p.Thr1264=)
|
rs773058827
|
0.00002
|
|
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly)
|
rs555111281
|
0.00002
|
|
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys)
|
rs1247714244
|
0.00002
|
|
NM_000393.5(COL5A2):c.4114-14C>G
|
rs777751790
|
0.00002
|
|
NM_000393.5(COL5A2):c.4163C>G (p.Thr1388Ser)
|
rs771415085
|
0.00002
|
|
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=)
|
rs529257786
|
0.00002
|
|
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=)
|
rs965891508
|
0.00002
|
|
NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn)
|
rs550723518
|
0.00002
|
|
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)
|
rs760569641
|
0.00002
|
|
NM_000393.5(COL5A2):c.44T>C (p.Ile15Thr)
|
rs369394572
|
0.00002
|
|
NM_000393.5(COL5A2):c.568-11C>T
|
rs375129913
|
0.00002
|
|
NM_000393.5(COL5A2):c.750G>A (p.Pro250=)
|
rs751819198
|
0.00002
|
|
NM_000393.5(COL5A2):c.799-6A>G
|
rs111586240
|
0.00002
|
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
|
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995
|
0.00002
|
|
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
|
rs1191721014
|
0.00002
|
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
|
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)
|
rs782313331
|
0.00002
|
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.1041-5C>G
|
rs765891564
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp)
|
rs149930229
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.191G>A (p.Arg64Gln)
|
rs368519440
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.286A>G (p.Met96Val)
|
rs895559794
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.302-7C>G
|
rs746687344
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val)
|
rs556023069
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.38G>T (p.Gly13Val)
|
rs148165667
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp)
|
rs750069673
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.615C>T (p.Pro205=)
|
rs147495812
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=)
|
rs762829962
|
0.00002
|
|
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)
|
rs777647845
|
0.00002
|
|
NM_001365276.2(TNXB):c.2135C>T (p.Pro712Leu)
|
rs766469380
|
0.00002
|
|
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)
|
rs749890642
|
0.00002
|
|
NM_001365276.2(TNXB):c.2562A>G (p.Thr854=)
|
rs1179322894
|
0.00002
|
|
NM_001365276.2(TNXB):c.2703C>T (p.Gly901=)
|
rs759556629
|
0.00002
|
|
NM_001365276.2(TNXB):c.4360G>A (p.Ala1454Thr)
|
rs374243353
|
0.00002
|
|
NM_001365276.2(TNXB):c.5269G>A (p.Gly1757Ser)
|
rs747658329
|
0.00002
|
|
NM_001365276.2(TNXB):c.5757C>T (p.Asp1919=)
|
rs371329474
|
0.00002
|
|
NM_001365276.2(TNXB):c.6544+10C>T
|
rs1457948099
|
0.00002
|
|
NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter)
|
rs749742731
|
0.00002
|
|
NM_001365276.2(TNXB):c.7812C>T (p.Ala2604=)
|
rs375141980
|
0.00002
|
|
NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly)
|
rs749055881
|
0.00002
|
|
NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His)
|
rs773612193
|
0.00002
|
|
NM_001365276.2(TNXB):c.8966G>A (p.Arg2989Lys)
|
rs775312280
|
0.00002
|
|
NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg)
|
rs763407660
|
0.00002
|
|
NM_001367624.2(ZNF469):c.*499A>G
|
rs537339757
|
0.00002
|
|
NM_001367624.2(ZNF469):c.*792A>G
|
rs886052424
|
0.00002
|
|
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)
|
rs764764326
|
0.00002
|
|
NM_001367624.2(ZNF469):c.1475G>A (p.Arg492Gln)
|
rs919081661
|
0.00002
|
|
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=)
|
rs768501538
|
0.00002
|
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
|
NM_001367624.2(ZNF469):c.4944A>G (p.Glu1648=)
|
rs1184248952
|
0.00002
|
|
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=)
|
rs766852564
|
0.00002
|
|
NM_001367624.2(ZNF469):c.6417T>C (p.Pro2139=)
|
rs369067040
|
0.00002
|
|
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)
|
rs886881362
|
0.00002
|
|
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)
|
rs1208219883
|
0.00002
|
|
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=)
|
rs757816736
|
0.00002
|
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
|
NM_001999.4(FBN2):c.2620A>C (p.Asn874His)
|
rs1297639505
|
0.00002
|
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
|
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)
|
rs759117573
|
0.00002
|
|
NM_001999.4(FBN2):c.6G>C (p.Gly2=)
|
rs746567292
|
0.00002
|
|
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)
|
rs779897931
|
0.00002
|
|
NM_004370.6(COL12A1):c.1023T>C (p.Ile341=)
|
rs747827698
|
0.00002
|
|
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe)
|
rs565496900
|
0.00002
|
|
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr)
|
rs1223531902
|
0.00002
|
|
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile)
|
rs759237307
|
0.00002
|
|
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=)
|
rs560103397
|
0.00002
|
|
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=)
|
rs761187970
|
0.00002
|
|
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=)
|
rs781239880
|
0.00002
|
|
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)
|
rs764727126
|
0.00002
|
|
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=)
|
rs201511621
|
0.00002
|
|
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val)
|
rs373292353
|
0.00002
|
|
NM_004370.6(COL12A1):c.189G>A (p.Thr63=)
|
rs371298920
|
0.00002
|
|
NM_004370.6(COL12A1):c.191-11T>C
|
rs765124645
|
0.00002
|
|
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)
|
rs764241362
|
0.00002
|
|
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)
|
rs755046298
|
0.00002
|
|
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=)
|
rs1039108581
|
0.00002
|
|
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser)
|
rs752941721
|
0.00002
|
|
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile)
|
rs746079159
|
0.00002
|
|
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn)
|
rs759182254
|
0.00002
|
|
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=)
|
rs776558080
|
0.00002
|
|
NM_004370.6(COL12A1):c.2437+13T>C
|
rs545025813
|
0.00002
|
|
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=)
|
rs201021998
|
0.00002
|
|
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
|
rs770324764
|
0.00002
|
|
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)
|
rs771124556
|
0.00002
|
|
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)
|
rs761818931
|
0.00002
|
|
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
|
rs373583477
|
0.00002
|
|
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=)
|
rs747852589
|
0.00002
|
|
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=)
|
rs765497889
|
0.00002
|
|
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu)
|
rs377482121
|
0.00002
|
|
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser)
|
rs932009209
|
0.00002
|
|
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)
|
rs752812483
|
0.00002
|
|
NM_004370.6(COL12A1):c.2984-2A>G
|
rs760316411
|
0.00002
|
|
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=)
|
rs1424598359
|
0.00002
|
|
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu)
|
rs374540275
|
0.00002
|
|
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=)
|
rs765327402
|
0.00002
|
|
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn)
|
rs768943327
|
0.00002
|
|
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu)
|
rs886380438
|
0.00002
|
|
NM_004370.6(COL12A1):c.3836-19C>G
|
rs762897672
|
0.00002
|
|
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)
|
rs191757914
|
0.00002
|
|
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val)
|
rs749722543
|
0.00002
|
|
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys)
|
rs780568012
|
0.00002
|
|
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr)
|
rs778970645
|
0.00002
|
|
NM_004370.6(COL12A1):c.4148-4G>A
|
rs146899194
|
0.00002
|
|
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly)
|
rs1385334403
|
0.00002
|
|
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln)
|
rs769711983
|
0.00002
|
|
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn)
|
rs758640189
|
0.00002
|
|
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
|
rs1033545876
|
0.00002
|
|
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=)
|
rs765983584
|
0.00002
|
|
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
|
rs1453508139
|
0.00002
|
|
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)
|
rs771110521
|
0.00002
|
|
NM_004370.6(COL12A1):c.465T>C (p.Asn155=)
|
rs777308349
|
0.00002
|
|
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu)
|
rs373002461
|
0.00002
|
|
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
|
rs1471550984
|
0.00002
|
|
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)
|
rs772069524
|
0.00002
|
|
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=)
|
rs369793258
|
0.00002
|
|
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser)
|
rs757815790
|
0.00002
|
|
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=)
|
rs1262898971
|
0.00002
|
|
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu)
|
rs779002973
|
0.00002
|
|
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys)
|
rs368481619
|
0.00002
|
|
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)
|
rs767343975
|
0.00002
|
|
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)
|
rs752550335
|
0.00002
|
|
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu)
|
rs776561287
|
0.00002
|
|
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=)
|
rs570972516
|
0.00002
|
|
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=)
|
rs1249793538
|
0.00002
|
|
NM_004370.6(COL12A1):c.5524+16G>C
|
rs755749812
|
0.00002
|
|
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=)
|
rs768333048
|
0.00002
|
|
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr)
|
rs757943935
|
0.00002
|
|
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=)
|
rs774390819
|
0.00002
|
|
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met)
|
rs750550229
|
0.00002
|
|
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg)
|
rs764600940
|
0.00002
|
|
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=)
|
rs779833436
|
0.00002
|
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
|
NM_004370.6(COL12A1):c.5937+13G>T
|
rs769986889
|
0.00002
|
|
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser)
|
rs750263276
|
0.00002
|
|
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=)
|
rs200777154
|
0.00002
|
|
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val)
|
rs376192452
|
0.00002
|
|
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu)
|
rs769755656
|
0.00002
|
|
NM_004370.6(COL12A1):c.6460+20A>G
|
rs751297089
|
0.00002
|
|
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=)
|
rs1442019750
|
0.00002
|
|
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=)
|
rs1384590633
|
0.00002
|
|
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr)
|
rs993593939
|
0.00002
|
|
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
|
rs758186176
|
0.00002
|
|
NM_004370.6(COL12A1):c.7087-14A>G
|
rs779399089
|
0.00002
|
|
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=)
|
rs1344927209
|
0.00002
|
|
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln)
|
rs1315131480
|
0.00002
|
|
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=)
|
rs777334909
|
0.00002
|
|
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)
|
rs199633490
|
0.00002
|
|
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)
|
rs1228621705
|
0.00002
|
|
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=)
|
rs755597191
|
0.00002
|
|
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg)
|
rs781184043
|
0.00002
|
|
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile)
|
rs371624564
|
0.00002
|
|
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=)
|
rs1768550709
|
0.00002
|
|
NM_004370.6(COL12A1):c.823+10G>A
|
rs1233608917
|
0.00002
|
|
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=)
|
rs555905349
|
0.00002
|
|
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)
|
rs199693016
|
0.00002
|
|
NM_004370.6(COL12A1):c.8523+11T>C
|
rs370728186
|
0.00002
|
|
NM_004370.6(COL12A1):c.8523+16C>T
|
rs751486526
|
0.00002
|
|
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)
|
rs1226171594
|
0.00002
|
|
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=)
|
rs372700355
|
0.00002
|
|
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr)
|
rs780457606
|
0.00002
|
|
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe)
|
rs1198783904
|
0.00002
|
|
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln)
|
rs759065663
|
0.00002
|
|
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=)
|
rs749317169
|
0.00002
|
|
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala)
|
rs778365596
|
0.00002
|
|
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=)
|
rs767339128
|
0.00002
|
|
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=)
|
rs372365979
|
0.00002
|
|
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)
|
rs757075255
|
0.00002
|
|
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=)
|
rs374037516
|
0.00002
|
|
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln)
|
rs749005420
|
0.00002
|
|
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg)
|
rs762612450
|
0.00002
|
|
NM_004612.4(TGFBR1):c.-5G>A
|
rs1220994912
|
0.00002
|
|
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser)
|
rs780295872
|
0.00002
|
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
|
NM_007255.3(B4GALT7):c.128T>G (p.Phe43Cys)
|
rs370483831
|
0.00002
|
|
NM_007255.3(B4GALT7):c.136C>T (p.Leu46=)
|
rs748963969
|
0.00002
|
|
NM_007255.3(B4GALT7):c.362G>C (p.Arg121Thr)
|
rs781467817
|
0.00002
|
|
NM_007255.3(B4GALT7):c.468G>A (p.Thr156=)
|
rs775059052
|
0.00002
|
|
NM_007255.3(B4GALT7):c.514G>A (p.Glu172Lys)
|
rs749164672
|
0.00002
|
|
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp)
|
rs121917817
|
0.00002
|
|
NM_007255.3(B4GALT7):c.79C>T (p.Arg27Trp)
|
rs947051343
|
0.00002
|
|
NM_007255.3(B4GALT7):c.94T>A (p.Phe32Ile)
|
rs1043221348
|
0.00002
|
|
NM_013352.4(DSE):c.121G>A (p.Asp41Asn)
|
rs754763310
|
0.00002
|
|
NM_013352.4(DSE):c.189G>A (p.Ser63=)
|
rs953029145
|
0.00002
|
|
NM_013352.4(DSE):c.2184G>A (p.Lys728=)
|
rs150939596
|
0.00002
|
|
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)
|
rs199731077
|
0.00002
|
|
NM_013352.4(DSE):c.2661A>G (p.Thr887=)
|
rs762839207
|
0.00002
|
|
NM_013352.4(DSE):c.2850C>T (p.Tyr950=)
|
rs751986225
|
0.00002
|
|
NM_013352.4(DSE):c.780G>A (p.Ala260=)
|
rs765697282
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.*1411G>A
|
rs1222087934
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1080C>T (p.His360=)
|
rs777406209
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1086C>T (p.His362=)
|
rs140784888
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu)
|
rs762460815
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val)
|
rs756455382
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1382+20C>A
|
rs1057524448
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.140-7G>T
|
rs759954552
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1632T>C (p.His544=)
|
rs1343776477
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1684G>A (p.Gly562Ser)
|
rs757782312
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1707G>A (p.Pro569=)
|
rs749970172
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1793G>A (p.Arg598His)
|
rs1304320729
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.1946G>A (p.Arg649Gln)
|
rs766541864
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2025T>C (p.His675=)
|
rs769344433
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2085+1G>T
|
rs1763059235
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)
|
rs150587776
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2184G>A (p.Thr728=)
|
rs770111550
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val)
|
rs780473688
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2343G>A (p.Val781=)
|
rs774384325
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.237G>A (p.Thr79=)
|
rs753133442
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2397C>T (p.Asp799=)
|
rs753746822
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.241A>C (p.Arg81=)
|
rs936171876
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His)
|
rs76488852
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2592T>G (p.Ser864=)
|
rs776605625
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2675G>A (p.Arg892His)
|
rs377397368
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.269C>T (p.Ala90Val)
|
rs1044141398
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2751-5G>C
|
rs751090751
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2812C>T (p.Arg938Cys)
|
rs1302357894
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2884G>A (p.Ala962Thr)
|
rs773669935
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln)
|
rs777490675
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.3009C>G (p.Arg1003=)
|
rs1294025373
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys)
|
rs755578308
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr)
|
rs372096858
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.3339C>T (p.His1113=)
|
rs780346183
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.339C>T (p.Val113=)
|
rs143877087
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=)
|
rs886060490
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.534+11A>C
|
rs768717695
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.535-5C>T
|
rs772473736
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.653C>T (p.Ser218Phe)
|
rs781630569
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.678C>G (p.Ala226=)
|
rs766547415
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.690G>A (p.Gly230=)
|
rs138176208
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu)
|
rs193247334
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.731G>A (p.Gly244Asp)
|
rs769174562
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.804C>T (p.Ile268=)
|
rs200868191
|
0.00002
|
|
NM_017946.4(FKBP14):c.16T>G (p.Trp6Gly)
|
rs935382945
|
0.00002
|
|
NM_017946.4(FKBP14):c.18G>C (p.Trp6Cys)
|
rs1481251822
|
0.00002
|
|
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr)
|
rs765841495
|
0.00002
|
|
NM_017946.4(FKBP14):c.39C>T (p.Phe13=)
|
rs371838963
|
0.00002
|
|
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln)
|
rs747727076
|
0.00002
|
|
NM_017946.4(FKBP14):c.48_50del (p.Leu17del)
|
rs564626031
|
0.00002
|
|
NM_017946.4(FKBP14):c.74C>G (p.Pro25Arg)
|
rs142423230
|
0.00002
|
|
NM_017946.4(FKBP14):c.79G>C (p.Val27Leu)
|
rs148775136
|
0.00002
|
|
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)
|
rs761027478
|
0.00002
|
|
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)
|
rs387907111
|
0.00002
|
|
NM_018699.4(PRDM5):c.921A>G (p.Ala307=)
|
rs190061397
|
0.00002
|
|
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr)
|
rs1490617023
|
0.00002
|
|
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=)
|
rs933332160
|
0.00002
|
|
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp)
|
rs1039242906
|
0.00002
|
|
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val)
|
rs762606889
|
0.00002
|
|
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln)
|
rs750182732
|
0.00002
|
|
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys)
|
rs886138913
|
0.00002
|
|
NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys)
|
rs771306094
|
0.00002
|
|
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=)
|
rs1200418637
|
0.00002
|
|
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=)
|
rs981250392
|
0.00002
|
|
NM_130468.4(CHST14):c.138G>C (p.Met46Ile)
|
rs1466102278
|
0.00002
|
|
NM_130468.4(CHST14):c.143C>T (p.Ala48Val)
|
rs780919131
|
0.00002
|
|
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro)
|
rs749135787
|
0.00002
|
|
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr)
|
rs1394541294
|
0.00002
|
|
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser)
|
rs561964206
|
0.00002
|
|
NM_130468.4(CHST14):c.252C>T (p.Arg84=)
|
rs1377145039
|
0.00002
|
|
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu)
|
rs770839880
|
0.00002
|
|
NM_130468.4(CHST14):c.501G>C (p.Lys167Asn)
|
rs763410236
|
0.00002
|
|
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys)
|
rs781430388
|
0.00002
|
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
|
NM_130468.4(CHST14):c.861G>A (p.Gln287=)
|
rs772452727
|
0.00002
|
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
|
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
|
rs1193696385
|
0.00001
|
|
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)
|
rs1557234537
|
0.00001
|
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
|
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)
|
rs2078077936
|
0.00001
|
|
NM_000088.4(COL1A1):c.*194G>A
|
rs886053158
|
0.00001
|
|
NM_000088.4(COL1A1):c.*837G>A
|
rs564977858
|
0.00001
|
|
NM_000088.4(COL1A1):c.-115G>A
|
rs886053164
|
0.00001
|
|
NM_000088.4(COL1A1):c.-23G>A
|
rs200689194
|
0.00001
|
|
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
|
rs72645362
|
0.00001
|
|
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
|
rs1051473344
|
0.00001
|
|
NM_000088.4(COL1A1):c.1669-10C>A
|
rs886053162
|
0.00001
|
|
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp)
|
rs769791947
|
0.00001
|
|
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys)
|
rs1213427451
|
0.00001
|
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
|
NM_000088.4(COL1A1):c.2397C>T (p.Pro799=)
|
rs750493684
|
0.00001
|
|
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)
|
rs779846520
|
0.00001
|
|
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)
|
rs746453576
|
0.00001
|
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
|
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr)
|
rs374095521
|
0.00001
|
|
NM_000088.4(COL1A1):c.326G>A (p.Gly109Asp)
|
rs372159426
|
0.00001
|
|
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile)
|
rs375823086
|
0.00001
|
|
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)
|
rs372044347
|
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.3619G>A (p.Glu1207Lys)
|
rs746671446
|
0.00001
|
|
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)
|
rs199514372
|
0.00001
|
|
NM_000088.4(COL1A1):c.3815-10C>T
|
rs770568983
|
0.00001
|
|
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)
|
rs754984293
|
0.00001
|
|
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
|
rs763025405
|
0.00001
|
|
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)
|
rs367952133
|
0.00001
|
|
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)
|
rs72645341
|
0.00001
|
|
NM_000088.4(COL1A1):c.935G>A (p.Arg312His)
|
rs930476771
|
0.00001
|
|
NM_000088.4(COL1A1):c.945C>T (p.Ala315=)
|
rs780242725
|
0.00001
|
|
NM_000089.3(COL1A2):c.-188C>T
|
rs886062512
|
0.00001
|
|
NM_000089.4(COL1A2):c.*193C>T
|
rs1025438678
|
0.00001
|
|
NM_000089.4(COL1A2):c.*465G>T
|
rs937283468
|
0.00001
|
|
NM_000089.4(COL1A2):c.*814A>G
|
rs1584334060
|
0.00001
|
|
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser)
|
rs757569298
|
0.00001
|
|
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala)
|
rs374718116
|
0.00001
|
|
NM_000089.4(COL1A2):c.105C>T (p.Ala35=)
|
rs533917998
|
0.00001
|
|
NM_000089.4(COL1A2):c.1071C>T (p.Ser357=)
|
rs752193830
|
0.00001
|
|
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser)
|
rs755584404
|
0.00001
|
|
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)
|
rs748961276
|
0.00001
|
|
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=)
|
rs547506739
|
0.00001
|
|
NM_000089.4(COL1A2):c.1146C>T (p.Gly382=)
|
rs1397328517
|
0.00001
|
|
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro)
|
rs972825197
|
0.00001
|
|
NM_000089.4(COL1A2):c.1168G>C (p.Ala390Pro)
|
rs763560185
|
0.00001
|
|
NM_000089.4(COL1A2):c.118C>A (p.Pro40Thr)
|
rs1363689462
|
0.00001
|
|
NM_000089.4(COL1A2):c.1195A>G (p.Arg399Gly)
|
rs1213766484
|
0.00001
|
|
NM_000089.4(COL1A2):c.1197+14G>A
|
rs756968679
|
0.00001
|
|
NM_000089.4(COL1A2):c.1198-12A>G
|
rs1292046736
|
0.00001
|
|
NM_000089.4(COL1A2):c.1198-16A>T
|
rs984345878
|
0.00001
|
|
NM_000089.4(COL1A2):c.1198-8T>C
|
rs769888724
|
0.00001
|
|
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His)
|
rs368702549
|
0.00001
|
|
NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys)
|
rs769457034
|
0.00001
|
|
NM_000089.4(COL1A2):c.1245C>T (p.Gly415=)
|
rs752359132
|
0.00001
|
|
NM_000089.4(COL1A2):c.1267C>T (p.Arg423Cys)
|
rs1270445631
|
0.00001
|
|
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys)
|
rs754825427
|
0.00001
|
|
NM_000089.4(COL1A2):c.1319G>A (p.Arg440His)
|
rs141677005
|
0.00001
|
|
NM_000089.4(COL1A2):c.132+3G>A
|
rs1262984429
|
0.00001
|
|
NM_000089.4(COL1A2):c.132+7A>G
|
rs751380636
|
0.00001
|
|
NM_000089.4(COL1A2):c.133-15C>G
|
rs992330364
|
0.00001
|
|
NM_000089.4(COL1A2):c.1350+14T>A
|
rs377624499
|
0.00001
|
|
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe)
|
rs780096548
|
0.00001
|
|
NM_000089.4(COL1A2):c.1377C>T (p.Ile459=)
|
rs770230919
|
0.00001
|
|
NM_000089.4(COL1A2):c.1404+1G>A
|
rs67162110
|
0.00001
|
|
NM_000089.4(COL1A2):c.1404C>T (p.Val468=)
|
rs773852385
|
0.00001
|
|
NM_000089.4(COL1A2):c.1412C>T (p.Pro471Leu)
|
rs760503549
|
0.00001
|
|
NM_000089.4(COL1A2):c.1419C>T (p.Ile473=)
|
rs543815305
|
0.00001
|
|
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr)
|
rs568201784
|
0.00001
|
|
NM_000089.4(COL1A2):c.1503+11C>T
|
rs538640615
|
0.00001
|
|
NM_000089.4(COL1A2):c.1503+13A>G
|
rs759564451
|
0.00001
|
|
NM_000089.4(COL1A2):c.1504-19T>G
|
rs746631924
|
0.00001
|
|
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln)
|
rs1037367793
|
0.00001
|
|
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)
|
rs769600024
|
0.00001
|
|
NM_000089.4(COL1A2):c.1563T>C (p.Ala521=)
|
rs765688776
|
0.00001
|
|
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr)
|
rs147074348
|
0.00001
|
|
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu)
|
rs1456907715
|
0.00001
|
|
NM_000089.4(COL1A2):c.1611+9T>A
|
rs200333208
|
0.00001
|
|
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser)
|
rs763695362
|
0.00001
|
|
NM_000089.4(COL1A2):c.1666-17T>C
|
rs758247671
|
0.00001
|
|
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)
|
rs1394933873
|
0.00001
|
|
NM_000089.4(COL1A2):c.1719+15T>C
|
rs746176634
|
0.00001
|
|
NM_000089.4(COL1A2):c.1761A>G (p.Pro587=)
|
rs746150563
|
0.00001
|
|
NM_000089.4(COL1A2):c.1764+13T>G
|
rs780458719
|
0.00001
|
|
NM_000089.4(COL1A2):c.1773C>T (p.Arg591=)
|
rs774232044
|
0.00001
|
|
NM_000089.4(COL1A2):c.1780C>G (p.Pro594Ala)
|
rs1396856908
|
0.00001
|
|
NM_000089.4(COL1A2):c.1817T>C (p.Ile606Thr)
|
rs757262502
|
0.00001
|
|
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu)
|
rs780264582
|
0.00001
|
|
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)
|
rs766541995
|
0.00001
|
|
NM_000089.4(COL1A2):c.1930G>A (p.Glu644Lys)
|
rs143178652
|
0.00001
|
|
NM_000089.4(COL1A2):c.1971+17A>G
|
rs1057524258
|
0.00001
|
|
NM_000089.4(COL1A2):c.1971+5G>A
|
rs375027186
|
0.00001
|
|
NM_000089.4(COL1A2):c.1971+6T>C
|
rs1345215762
|
0.00001
|
|
NM_000089.4(COL1A2):c.1972-7C>T
|
rs776401729
|
0.00001
|
|
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys)
|
rs778295967
|
0.00001
|
|
NM_000089.4(COL1A2):c.2026-19G>A
|
rs546549922
|
0.00001
|
|
NM_000089.4(COL1A2):c.2050C>T (p.Pro684Ser)
|
rs747954056
|
0.00001
|
|
NM_000089.4(COL1A2):c.2077C>T (p.Arg693Trp)
|
rs1342960126
|
0.00001
|
|
NM_000089.4(COL1A2):c.2079+3A>G
|
rs1226079110
|
0.00001
|
|
NM_000089.4(COL1A2):c.2079+8T>C
|
rs745913455
|
0.00001
|
|
NM_000089.4(COL1A2):c.2091G>A (p.Gly697=)
|
rs749221597
|
0.00001
|
|
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys)
|
rs72658160
|
0.00001
|
|
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys)
|
rs770271259
|
0.00001
|
|
NM_000089.4(COL1A2):c.2141G>A (p.Arg714His)
|
rs773392397
|
0.00001
|
|
NM_000089.4(COL1A2):c.2151C>T (p.Val717=)
|
rs763380136
|
0.00001
|
|
NM_000089.4(COL1A2):c.2187+8T>C
|
rs763816519
|
0.00001
|
|
NM_000089.4(COL1A2):c.219C>T (p.Leu73=)
|
rs768467735
|
0.00001
|
|
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu)
|
rs774919512
|
0.00001
|
|
NM_000089.4(COL1A2):c.225+14C>T
|
rs751435484
|
0.00001
|
|
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly)
|
rs1205884799
|
0.00001
|
|
NM_000089.4(COL1A2):c.2295+15C>T
|
rs1359360545
|
0.00001
|
|
NM_000089.4(COL1A2):c.2296-6A>G
|
rs1004706789
|
0.00001
|
|
NM_000089.4(COL1A2):c.2312C>T (p.Pro771Leu)
|
rs569241110
|
0.00001
|
|
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro)
|
rs774233882
|
0.00001
|
|
NM_000089.4(COL1A2):c.2372C>T (p.Ala791Val)
|
rs1208084157
|
0.00001
|
|
NM_000089.4(COL1A2):c.2424T>C (p.Gly808=)
|
rs766541855
|
0.00001
|
|
NM_000089.4(COL1A2):c.2506G>A (p.Ala836Thr)
|
rs759738995
|
0.00001
|
|
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)
|
rs928361235
|
0.00001
|
|
NM_000089.4(COL1A2):c.2565+7G>A
|
rs368445054
|
0.00001
|
|
NM_000089.4(COL1A2):c.2566-19G>A
|
rs754764745
|
0.00001
|
|
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu)
|
rs777971816
|
0.00001
|
|
NM_000089.4(COL1A2):c.2622T>C (p.Gly874=)
|
rs769128071
|
0.00001
|
|
NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu)
|
rs773819922
|
0.00001
|
|
NM_000089.4(COL1A2):c.2634G>A (p.Ser878=)
|
rs762339011
|
0.00001
|
|
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly)
|
rs752453618
|
0.00001
|
|
NM_000089.4(COL1A2):c.2673+8C>T
|
rs760346992
|
0.00001
|
|
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr)
|
rs1245765830
|
0.00001
|
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
|
NM_000089.4(COL1A2):c.2732C>G (p.Ala911Gly)
|
rs374901613
|
0.00001
|
|
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His)
|
rs200331961
|
0.00001
|
|
NM_000089.4(COL1A2):c.2781+10A>G
|
rs760431398
|
0.00001
|
|
NM_000089.4(COL1A2):c.2781+13C>G
|
rs193922163
|
0.00001
|
|
NM_000089.4(COL1A2):c.279+12T>C
|
rs751199493
|
0.00001
|
|
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn)
|
rs779358259
|
0.00001
|
|
NM_000089.4(COL1A2):c.280-7T>C
|
rs750868020
|
0.00001
|
|
NM_000089.4(COL1A2):c.2802T>C (p.Gly934=)
|
rs1379123302
|
0.00001
|
|
NM_000089.4(COL1A2):c.2805C>A (p.Pro935=)
|
rs377577833
|
0.00001
|
|
NM_000089.4(COL1A2):c.2806C>G (p.Pro936Ala)
|
rs1020235088
|
0.00001
|
|
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn)
|
rs776169837
|
0.00001
|
|
NM_000089.4(COL1A2):c.2823A>G (p.Gln941=)
|
rs1187487060
|
0.00001
|
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
|
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=)
|
rs141516754
|
0.00001
|
|
NM_000089.4(COL1A2):c.2870T>A (p.Val957Asp)
|
rs374347304
|
0.00001
|
|
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys)
|
rs1026230498
|
0.00001
|
|
NM_000089.4(COL1A2):c.2887C>T (p.Pro963Ser)
|
rs760780128
|
0.00001
|
|
NM_000089.4(COL1A2):c.2925T>C (p.His975=)
|
rs754497392
|
0.00001
|
|
NM_000089.4(COL1A2):c.292C>T (p.Pro98Ser)
|
rs765868569
|
0.00001
|
|
NM_000089.4(COL1A2):c.2932C>T (p.Arg978Cys)
|
rs145633247
|
0.00001
|
|
NM_000089.4(COL1A2):c.2944-3C>T
|
rs1408725826
|
0.00001
|
|
NM_000089.4(COL1A2):c.2944-4A>T
|
rs143220941
|
0.00001
|
|
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu)
|
rs768171831
|
0.00001
|
|
NM_000089.4(COL1A2):c.2958del (p.Val987fs)
|
rs1064793527
|
0.00001
|
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
|
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu)
|
rs1204582322
|
0.00001
|
|
NM_000089.4(COL1A2):c.2998-4A>G
|
rs1246541197
|
0.00001
|
|
NM_000089.4(COL1A2):c.300C>T (p.Gly100=)
|
rs751107938
|
0.00001
|
|
NM_000089.4(COL1A2):c.3033C>T (p.Pro1011=)
|
rs780036812
|
0.00001
|
|
NM_000089.4(COL1A2):c.3102C>T (p.Ile1034=)
|
rs768455635
|
0.00001
|
|
NM_000089.4(COL1A2):c.3106-5T>C
|
rs374164023
|
0.00001
|
|
NM_000089.4(COL1A2):c.3140T>G (p.Val1047Gly)
|
rs1033662953
|
0.00001
|
|
NM_000089.4(COL1A2):c.323C>G (p.Pro108Arg)
|
rs1791756508
|
0.00001
|
|
NM_000089.4(COL1A2):c.324+15C>T
|
rs371250316
|
0.00001
|
|
NM_000089.4(COL1A2):c.3282C>T (p.Pro1094=)
|
rs753082771
|
0.00001
|
|
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu)
|
rs770180852
|
0.00001
|
|
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=)
|
rs889862814
|
0.00001
|
|
NM_000089.4(COL1A2):c.3311G>A (p.Ser1104Asn)
|
rs771438684
|
0.00001
|
|
NM_000089.4(COL1A2):c.3346T>C (p.Phe1116Leu)
|
rs1368149627
|
0.00001
|
|
NM_000089.4(COL1A2):c.3369C>T (p.Arg1123=)
|
rs1274009584
|
0.00001
|
|
NM_000089.4(COL1A2):c.3404T>C (p.Val1135Ala)
|
rs779411376
|
0.00001
|
|
NM_000089.4(COL1A2):c.3414T>C (p.Thr1138=)
|
rs757889815
|
0.00001
|
|
NM_000089.4(COL1A2):c.3526+4G>A
|
rs1284156162
|
0.00001
|
|
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His)
|
rs750815565
|
0.00001
|
|
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu)
|
rs766941490
|
0.00001
|
|
NM_000089.4(COL1A2):c.3706A>G (p.Ser1236Gly)
|
rs781184808
|
0.00001
|
|
NM_000089.4(COL1A2):c.3708C>A (p.Ser1236Arg)
|
rs1214052566
|
0.00001
|
|
NM_000089.4(COL1A2):c.3711+20C>A
|
rs555027516
|
0.00001
|
|
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=)
|
rs1792349319
|
0.00001
|
|
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His)
|
rs200663095
|
0.00001
|
|
NM_000089.4(COL1A2):c.384T>A (p.Pro128=)
|
rs767043956
|
0.00001
|
|
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His)
|
rs1214506904
|
0.00001
|
|
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)
|
rs757449082
|
0.00001
|
|
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)
|
rs72656360
|
0.00001
|
|
NM_000089.4(COL1A2):c.3941T>C (p.Val1314Ala)
|
rs1421507234
|
0.00001
|
|
NM_000089.4(COL1A2):c.3945T>C (p.Asp1315=)
|
rs993519019
|
0.00001
|
|
NM_000089.4(COL1A2):c.3954+8A>G
|
rs747626670
|
0.00001
|
|
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)
|
rs781599112
|
0.00001
|
|
NM_000089.4(COL1A2):c.3995A>T (p.Lys1332Ile)
|
rs1484368913
|
0.00001
|
|
NM_000089.4(COL1A2):c.4036C>T (p.Pro1346Ser)
|
rs369008932
|
0.00001
|
|
NM_000089.4(COL1A2):c.4052G>A (p.Gly1351Asp)
|
rs372535479
|
0.00001
|
|
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val)
|
rs1281006993
|
0.00001
|
|
NM_000089.4(COL1A2):c.426T>G (p.Gly142=)
|
rs750357212
|
0.00001
|
|
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln)
|
rs765116624
|
0.00001
|
|
NM_000089.4(COL1A2):c.513T>C (p.Pro171=)
|
rs1204358667
|
0.00001
|
|
NM_000089.4(COL1A2):c.540+17C>A
|
rs759527558
|
0.00001
|
|
NM_000089.4(COL1A2):c.541-19A>G
|
rs750692751
|
0.00001
|
|
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser)
|
rs1283526350
|
0.00001
|
|
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg)
|
rs772672797
|
0.00001
|
|
NM_000089.4(COL1A2):c.60A>C (p.Ala20=)
|
rs779022418
|
0.00001
|
|
NM_000089.4(COL1A2):c.640-16A>G
|
rs539923265
|
0.00001
|
|
NM_000089.4(COL1A2):c.660T>C (p.Gly220=)
|
rs746887380
|
0.00001
|
|
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala)
|
rs1210318478
|
0.00001
|
|
NM_000089.4(COL1A2):c.693+12C>A
|
rs767990110
|
0.00001
|
|
NM_000089.4(COL1A2):c.69A>G (p.Gln23=)
|
rs770754442
|
0.00001
|
|
NM_000089.4(COL1A2):c.720G>A (p.Val240=)
|
rs1419697305
|
0.00001
|
|
NM_000089.4(COL1A2):c.726C>T (p.Pro242=)
|
rs761063195
|
0.00001
|
|
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg)
|
rs1313865970
|
0.00001
|
|
NM_000089.4(COL1A2):c.793-20G>T
|
rs770146997
|
0.00001
|
|
NM_000089.4(COL1A2):c.81+18T>A
|
rs1183435820
|
0.00001
|
|
NM_000089.4(COL1A2):c.81+8A>C
|
rs765118884
|
0.00001
|
|
NM_000089.4(COL1A2):c.816C>T (p.Asn272=)
|
rs1465476385
|
0.00001
|
|
NM_000089.4(COL1A2):c.834C>T (p.Pro278=)
|
rs760482884
|
0.00001
|
|
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr)
|
rs374616916
|
0.00001
|
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
|
NM_000089.4(COL1A2):c.845G>A (p.Arg282His)
|
rs542393716
|
0.00001
|
|
NM_000089.4(COL1A2):c.877C>T (p.Pro293Ser)
|
rs1365024484
|
0.00001
|
|
NM_000089.4(COL1A2):c.879C>G (p.Pro293=)
|
rs780283556
|
0.00001
|
|
NM_000089.4(COL1A2):c.891+7A>T
|
rs1017077909
|
0.00001
|
|
NM_000089.4(COL1A2):c.892-20T>G
|
rs750377261
|
0.00001
|
|
NM_000089.4(COL1A2):c.892-5C>T
|
rs778088746
|
0.00001
|
|
NM_000089.4(COL1A2):c.942T>C (p.Leu314=)
|
rs780887310
|
0.00001
|
|
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)
|
rs72656392
|
0.00001
|
|
NM_000089.4(COL1A2):c.963C>T (p.Pro321=)
|
rs147021092
|
0.00001
|
|
NM_000090.4(COL3A1):c.*643G>A
|
rs1688748242
|
0.00001
|
|
NM_000090.4(COL3A1):c.*740A>T
|
rs1005052846
|
0.00001
|
|
NM_000090.4(COL3A1):c.*818T>C
|
rs886055344
|
0.00001
|
|
NM_000090.4(COL3A1):c.1004C>A (p.Pro335His)
|
rs1688217356
|
0.00001
|
|
NM_000090.4(COL3A1):c.101A>G (p.His34Arg)
|
rs752110396
|
0.00001
|
|
NM_000090.4(COL3A1):c.1050+7_1050+8del
|
rs759415640
|
0.00001
|
|
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala)
|
rs574831241
|
0.00001
|
|
NM_000090.4(COL3A1):c.1080T>C (p.Gly360=)
|
rs1231189635
|
0.00001
|
|
NM_000090.4(COL3A1):c.1103G>A (p.Arg368Lys)
|
rs781216305
|
0.00001
|
|
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly)
|
rs748323501
|
0.00001
|
|
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr)
|
rs1248348633
|
0.00001
|
|
NM_000090.4(COL3A1):c.113C>A (p.Ser38Tyr)
|
rs755509578
|
0.00001
|
|
NM_000090.4(COL3A1):c.1149+3A>G
|
rs1466133249
|
0.00001
|
|
NM_000090.4(COL3A1):c.1150-19C>T
|
rs1259944548
|
0.00001
|
|
NM_000090.4(COL3A1):c.1150-4T>G
|
rs756350810
|
0.00001
|
|
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys)
|
rs187907868
|
0.00001
|
|
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)
|
rs763720540
|
0.00001
|
|
NM_000090.4(COL3A1):c.1194+9T>C
|
rs1244921213
|
0.00001
|
|
NM_000090.4(COL3A1):c.1197T>C (p.Gly399=)
|
rs892020201
|
0.00001
|
|
NM_000090.4(COL3A1):c.1200C>T (p.Pro400=)
|
rs557759394
|
0.00001
|
|
NM_000090.4(COL3A1):c.1201G>A (p.Ala401Thr)
|
rs373858715
|
0.00001
|
|
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val)
|
rs1372036761
|
0.00001
|
|
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)
|
rs794728035
|
0.00001
|
|
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser)
|
rs1688253514
|
0.00001
|
|
NM_000090.4(COL3A1):c.1294-8T>C
|
rs1226243055
|
0.00001
|
|
NM_000090.4(COL3A1):c.129T>C (p.Asp43=)
|
rs774591764
|
0.00001
|
|
NM_000090.4(COL3A1):c.1307A>G (p.Lys436Arg)
|
rs751471411
|
0.00001
|
|
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)
|
rs1688260053
|
0.00001
|
|
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=)
|
rs1553507953
|
0.00001
|
|
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His)
|
rs888082655
|
0.00001
|
|
NM_000090.4(COL3A1):c.1348-4T>C
|
rs756811190
|
0.00001
|
|
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr)
|
rs745315358
|
0.00001
|
|
NM_000090.4(COL3A1):c.13G>A (p.Val5Met)
|
rs1461198652
|
0.00001
|
|
NM_000090.4(COL3A1):c.1410T>C (p.Pro470=)
|
rs1010477216
|
0.00001
|
|
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=)
|
rs368765585
|
0.00001
|
|
NM_000090.4(COL3A1):c.1437A>G (p.Pro479=)
|
rs1001916364
|
0.00001
|
|
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)
|
rs374532173
|
0.00001
|
|
NM_000090.4(COL3A1):c.1455+12A>G
|
rs752647323
|
0.00001
|
|
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
|
rs200866608
|
0.00001
|
|
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr)
|
rs1001748912
|
0.00001
|
|
NM_000090.4(COL3A1):c.14T>A (p.Val5Glu)
|
rs751315184
|
0.00001
|
|
NM_000090.4(COL3A1):c.1509+7A>C
|
rs201740954
|
0.00001
|
|
NM_000090.4(COL3A1):c.1510-17T>C
|
rs768697971
|
0.00001
|
|
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=)
|
rs761742677
|
0.00001
|
|
NM_000090.4(COL3A1):c.1545A>G (p.Ala515=)
|
rs1250297410
|
0.00001
|
|
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=)
|
rs754318905
|
0.00001
|
|
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=)
|
rs890700564
|
0.00001
|
|
NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser)
|
rs138166497
|
0.00001
|
|
NM_000090.4(COL3A1):c.1609-17T>G
|
rs1468376126
|
0.00001
|
|
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn)
|
rs1293397335
|
0.00001
|
|
NM_000090.4(COL3A1):c.1716A>C (p.Arg572=)
|
rs751916055
|
0.00001
|
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
|
NM_000090.4(COL3A1):c.1762-17G>A
|
rs768134782
|
0.00001
|
|
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp)
|
rs1435010100
|
0.00001
|
|
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)
|
rs762028131
|
0.00001
|
|
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu)
|
rs764299277
|
0.00001
|
|
NM_000090.4(COL3A1):c.1815+4C>T
|
rs757154607
|
0.00001
|
|
NM_000090.4(COL3A1):c.1816-6T>G
|
rs1474453319
|
0.00001
|
|
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
|
NM_000090.4(COL3A1):c.183C>T (p.Leu61=)
|
rs753474870
|
0.00001
|
|
NM_000090.4(COL3A1):c.1857C>G (p.Pro619=)
|
rs769323072
|
0.00001
|
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
|
NM_000090.4(COL3A1):c.1869+6T>G
|
rs730880063
|
0.00001
|
|
NM_000090.4(COL3A1):c.1870-14T>C
|
rs201315795
|
0.00001
|
|
NM_000090.4(COL3A1):c.1872G>A (p.Gly624=)
|
rs372901096
|
0.00001
|
|
NM_000090.4(COL3A1):c.1893C>T (p.Asp631=)
|
rs1171472504
|
0.00001
|
|
NM_000090.4(COL3A1):c.18A>G (p.Gln6=)
|
rs892404442
|
0.00001
|
|
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu)
|
rs902780774
|
0.00001
|
|
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
|
rs794728048
|
0.00001
|
|
NM_000090.4(COL3A1):c.1924-4C>T
|
rs755814664
|
0.00001
|
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
|
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu)
|
rs756822808
|
0.00001
|
|
NM_000090.4(COL3A1):c.1977+15A>G
|
rs1157414171
|
0.00001
|
|
NM_000090.4(COL3A1):c.1977+19T>C
|
rs1688375431
|
0.00001
|
|
NM_000090.4(COL3A1):c.1978-12C>T
|
rs753526966
|
0.00001
|
|
NM_000090.4(COL3A1):c.1978-13G>A
|
rs763906653
|
0.00001
|
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
|
NM_000090.4(COL3A1):c.2022+12A>G
|
rs745914997
|
0.00001
|
|
NM_000090.4(COL3A1):c.2023-15A>G
|
rs764932588
|
0.00001
|
|
NM_000090.4(COL3A1):c.2023-1G>T
|
rs587779708
|
0.00001
|
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
|
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=)
|
rs768133491
|
0.00001
|
|
NM_000090.4(COL3A1):c.2047C>T (p.Arg683Cys)
|
rs1254414798
|
0.00001
|
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
|
NM_000090.4(COL3A1):c.204C>T (p.Asp68=)
|
rs368299739
|
0.00001
|
|
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn)
|
rs112714742
|
0.00001
|
|
NM_000090.4(COL3A1):c.2074C>A (p.Pro692Thr)
|
rs1160258883
|
0.00001
|
|
NM_000090.4(COL3A1):c.2121+10C>T
|
rs763630559
|
0.00001
|
|
NM_000090.4(COL3A1):c.219C>T (p.Asp73=)
|
rs886038228
|
0.00001
|
|
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=)
|
rs541557925
|
0.00001
|
|
NM_000090.4(COL3A1):c.2230-10T>C
|
rs1311894180
|
0.00001
|
|
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln)
|
rs1553508711
|
0.00001
|
|
NM_000090.4(COL3A1):c.2290A>G (p.Thr764Ala)
|
rs775003113
|
0.00001
|
|
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=)
|
rs1321267556
|
0.00001
|
|
NM_000090.4(COL3A1):c.2317G>T (p.Ala773Ser)
|
rs1170068141
|
0.00001
|
|
NM_000090.4(COL3A1):c.2337+16A>G
|
rs759863835
|
0.00001
|
|
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)
|
rs370292679
|
0.00001
|
|
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
|
rs1296092212
|
0.00001
|
|
NM_000090.4(COL3A1):c.2481A>G (p.Arg827=)
|
rs1355382847
|
0.00001
|
|
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser)
|
rs755676319
|
0.00001
|
|
NM_000090.4(COL3A1):c.2511C>A (p.Gly837=)
|
rs1157152697
|
0.00001
|
|
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu)
|
rs943287668
|
0.00001
|
|
NM_000090.4(COL3A1):c.2539G>A (p.Gly847Ser)
|
rs1688502787
|
0.00001
|
|
NM_000090.4(COL3A1):c.2554-4A>G
|
rs543263157
|
0.00001
|
|
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=)
|
rs774245587
|
0.00001
|
|
NM_000090.4(COL3A1):c.2567C>T (p.Pro856Leu)
|
rs1688514900
|
0.00001
|
|
NM_000090.4(COL3A1):c.258A>C (p.Ala86=)
|
rs775636888
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607+10G>A
|
rs367789349
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
|
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala)
|
rs1158155272
|
0.00001
|
|
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr)
|
rs761469859
|
0.00001
|
|
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
|
rs1455100373
|
0.00001
|
|
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
|
rs998965783
|
0.00001
|
|
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=)
|
rs754015151
|
0.00001
|
|
NM_000090.4(COL3A1):c.275C>T (p.Pro92Leu)
|
rs368889070
|
0.00001
|
|
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=)
|
rs915948354
|
0.00001
|
|
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=)
|
rs915948354
|
0.00001
|
|
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn)
|
rs929526823
|
0.00001
|
|
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser)
|
rs761447734
|
0.00001
|
|
NM_000090.4(COL3A1):c.2848G>A (p.Ala950Thr)
|
rs1170896025
|
0.00001
|
|
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)
|
rs780260944
|
0.00001
|
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
|
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=)
|
rs780866547
|
0.00001
|
|
NM_000090.4(COL3A1):c.2931+9A>T
|
rs752325298
|
0.00001
|
|
NM_000090.4(COL3A1):c.2962C>T (p.Leu988Phe)
|
rs978290107
|
0.00001
|
|
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser)
|
rs1431359737
|
0.00001
|
|
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
|
rs142457159
|
0.00001
|
|
NM_000090.4(COL3A1):c.3040-12T>C
|
rs757034411
|
0.00001
|
|
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln)
|
rs1484867480
|
0.00001
|
|
NM_000090.4(COL3A1):c.3092A>G (p.Lys1031Arg)
|
rs749725146
|
0.00001
|
|
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val)
|
rs1060500206
|
0.00001
|
|
NM_000090.4(COL3A1):c.3100C>T (p.Arg1034Cys)
|
rs1178112512
|
0.00001
|
|
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His)
|
rs780788248
|
0.00001
|
|
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=)
|
rs1399453028
|
0.00001
|
|
NM_000090.4(COL3A1):c.3114C>T (p.Gly1038=)
|
rs982248094
|
0.00001
|
|
NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu)
|
rs762567565
|
0.00001
|
|
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
|
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)
|
rs180938313
|
0.00001
|
|
NM_000090.4(COL3A1):c.3202-5C>A
|
rs1417576506
|
0.00001
|
|
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser)
|
rs376738516
|
0.00001
|
|
NM_000090.4(COL3A1):c.3219T>G (p.Ala1073=)
|
rs767247799
|
0.00001
|
|
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val)
|
rs952989325
|
0.00001
|
|
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu)
|
rs1328301317
|
0.00001
|
|
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
|
rs1464447467
|
0.00001
|
|
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys)
|
rs755321924
|
0.00001
|
|
NM_000090.4(COL3A1):c.3321A>G (p.Gly1107=)
|
rs1364238191
|
0.00001
|
|
NM_000090.4(COL3A1):c.333+15T>C
|
rs764678861
|
0.00001
|
|
NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=)
|
rs1045040851
|
0.00001
|
|
NM_000090.4(COL3A1):c.3363+9A>G
|
rs1286958692
|
0.00001
|
|
NM_000090.4(COL3A1):c.3364-8C>T
|
rs779073034
|
0.00001
|
|
NM_000090.4(COL3A1):c.3417+6T>C
|
rs1201578152
|
0.00001
|
|
NM_000090.4(COL3A1):c.3418-15A>G
|
rs754815421
|
0.00001
|
|
NM_000090.4(COL3A1):c.3418-5C>A
|
rs377392671
|
0.00001
|
|
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu)
|
rs889877870
|
0.00001
|
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
|
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu)
|
rs752598062
|
0.00001
|
|
NM_000090.4(COL3A1):c.3583C>T (p.Pro1195Ser)
|
rs137912293
|
0.00001
|
|
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp)
|
rs756858564
|
0.00001
|
|
NM_000090.4(COL3A1):c.3606C>T (p.Ala1202=)
|
rs755573602
|
0.00001
|
|
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala)
|
rs374452484
|
0.00001
|
|
NM_000090.4(COL3A1):c.3637G>T (p.Ala1213Ser)
|
rs1427744978
|
0.00001
|
|
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser)
|
rs767577382
|
0.00001
|
|
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys)
|
rs1190691997
|
0.00001
|
|
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=)
|
rs368556405
|
0.00001
|
|
NM_000090.4(COL3A1):c.3712C>T (p.Leu1238Phe)
|
rs1688662674
|
0.00001
|
|
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
|
rs779018915
|
0.00001
|
|
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met)
|
rs200052168
|
0.00001
|
|
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr)
|
rs756724842
|
0.00001
|
|
NM_000090.4(COL3A1):c.3824-11T>G
|
rs766096022
|
0.00001
|
|
NM_000090.4(COL3A1):c.3847C>G (p.Gln1283Glu)
|
rs587779467
|
0.00001
|
|
NM_000090.4(COL3A1):c.3852A>G (p.Gly1284=)
|
rs1332063006
|
0.00001
|
|
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=)
|
rs770201950
|
0.00001
|
|
NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile)
|
rs1688692242
|
0.00001
|
|
NM_000090.4(COL3A1):c.3934C>T (p.Arg1312Trp)
|
rs794728056
|
0.00001
|
|
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln)
|
rs772919524
|
0.00001
|
|
NM_000090.4(COL3A1):c.3963T>C (p.Ala1321=)
|
rs1057523548
|
0.00001
|
|
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys)
|
rs149522780
|
0.00001
|
|
NM_000090.4(COL3A1):c.3975C>T (p.His1325=)
|
rs1167154450
|
0.00001
|
|
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)
|
rs751807135
|
0.00001
|
|
NM_000090.4(COL3A1):c.4011+8A>C
|
rs781175426
|
0.00001
|
|
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)
|
rs752777683
|
0.00001
|
|
NM_000090.4(COL3A1):c.4049T>C (p.Leu1350Pro)
|
rs1294762739
|
0.00001
|
|
NM_000090.4(COL3A1):c.405T>C (p.Pro135=)
|
rs777238997
|
0.00001
|
|
NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=)
|
rs771682647
|
0.00001
|
|
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)
|
rs547373542
|
0.00001
|
|
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser)
|
rs746580509
|
0.00001
|
|
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg)
|
rs775951025
|
0.00001
|
|
NM_000090.4(COL3A1):c.414T>G (p.Pro138=)
|
rs1454063115
|
0.00001
|
|
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser)
|
rs202022204
|
0.00001
|
|
NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=)
|
rs527694833
|
0.00001
|
|
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)
|
rs747651283
|
0.00001
|
|
NM_000090.4(COL3A1):c.4224C>T (p.Phe1408=)
|
rs549672243
|
0.00001
|
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
|
NM_000090.4(COL3A1):c.4257A>G (p.Lys1419=)
|
rs754723643
|
0.00001
|
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
|
NM_000090.4(COL3A1):c.4284C>A (p.Val1428=)
|
rs746436515
|
0.00001
|
|
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)
|
rs772428340
|
0.00001
|
|
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)
|
rs747324731
|
0.00001
|
|
NM_000090.4(COL3A1):c.4340A>G (p.Tyr1447Cys)
|
rs1407784923
|
0.00001
|
|
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
|
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met)
|
rs751427069
|
0.00001
|
|
NM_000090.4(COL3A1):c.448-19A>G
|
rs370705517
|
0.00001
|
|
NM_000090.4(COL3A1):c.448-5C>T
|
rs372900736
|
0.00001
|
|
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys)
|
rs1160176510
|
0.00001
|
|
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu)
|
rs1016172772
|
0.00001
|
|
NM_000090.4(COL3A1):c.507C>T (p.Leu169=)
|
rs142437505
|
0.00001
|
|
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)
|
rs374476865
|
0.00001
|
|
NM_000090.4(COL3A1):c.50A>T (p.His17Leu)
|
rs1311785540
|
0.00001
|
|
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)
|
rs771654029
|
0.00001
|
|
NM_000090.4(COL3A1):c.531C>A (p.Gly177=)
|
rs41272797
|
0.00001
|
|
NM_000090.4(COL3A1):c.537A>G (p.Pro179=)
|
rs750191923
|
0.00001
|
|
NM_000090.4(COL3A1):c.567T>C (p.Gly189=)
|
rs946410316
|
0.00001
|
|
NM_000090.4(COL3A1):c.582+16G>A
|
rs775731382
|
0.00001
|
|
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro)
|
rs751350498
|
0.00001
|
|
NM_000090.4(COL3A1):c.621G>A (p.Gly207=)
|
rs779352711
|
0.00001
|
|
NM_000090.4(COL3A1):c.637-15T>C
|
rs747387258
|
0.00001
|
|
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser)
|
rs1325737333
|
0.00001
|
|
NM_000090.4(COL3A1):c.669A>T (p.Pro223=)
|
rs1034042392
|
0.00001
|
|
NM_000090.4(COL3A1):c.690+3A>G
|
rs1447080385
|
0.00001
|
|
NM_000090.4(COL3A1):c.690+9T>C
|
rs370451250
|
0.00001
|
|
NM_000090.4(COL3A1):c.691-9T>C
|
rs777795873
|
0.00001
|
|
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)
|
rs771858477
|
0.00001
|
|
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln)
|
rs760324242
|
0.00001
|
|
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln)
|
rs372025063
|
0.00001
|
|
NM_000090.4(COL3A1):c.744+15T>C
|
rs755509342
|
0.00001
|
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
0.00001
|
|
NM_000090.4(COL3A1):c.747T>C (p.Gly249=)
|
rs1559054631
|
0.00001
|
|
NM_000090.4(COL3A1):c.752A>G (p.Lys251Arg)
|
rs151148197
|
0.00001
|
|
NM_000090.4(COL3A1):c.759A>G (p.Pro253=)
|
rs376198106
|
0.00001
|
|
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser)
|
rs1688161034
|
0.00001
|
|
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr)
|
rs772713162
|
0.00001
|
|
NM_000090.4(COL3A1):c.79+10T>C
|
rs747389214
|
0.00001
|
|
NM_000090.4(COL3A1):c.792A>G (p.Gly264=)
|
rs113304344
|
0.00001
|
|
NM_000090.4(COL3A1):c.80-13A>C
|
rs566189676
|
0.00001
|
|
NM_000090.4(COL3A1):c.80-8T>C
|
rs1241543816
|
0.00001
|
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
|
NM_000090.4(COL3A1):c.819A>G (p.Gly273=)
|
rs761106446
|
0.00001
|
|
NM_000090.4(COL3A1):c.84T>C (p.Val28=)
|
rs752574994
|
0.00001
|
|
NM_000090.4(COL3A1):c.852+2T>C
|
rs201314784
|
0.00001
|
|
NM_000090.4(COL3A1):c.853-20C>G
|
rs773768258
|
0.00001
|
|
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)
|
rs1333066574
|
0.00001
|
|
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)
|
rs1016767830
|
0.00001
|
|
NM_000090.4(COL3A1):c.891A>C (p.Gly297=)
|
rs751603655
|
0.00001
|
|
NM_000090.4(COL3A1):c.897+10T>C
|
rs375595216
|
0.00001
|
|
NM_000090.4(COL3A1):c.897+16dup
|
rs748754773
|
0.00001
|
|
NM_000090.4(COL3A1):c.897+4A>G
|
rs886039191
|
0.00001
|
|
NM_000090.4(COL3A1):c.898-14A>G
|
rs763316592
|
0.00001
|
|
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg)
|
rs1273313377
|
0.00001
|
|
NM_000090.4(COL3A1):c.945G>A (p.Gly315=)
|
rs372206736
|
0.00001
|
|
NM_000090.4(COL3A1):c.952-18G>A
|
rs996947690
|
0.00001
|
|
NM_000090.4(COL3A1):c.996A>G (p.Pro332=)
|
rs1229792348
|
0.00001
|
|
NM_000093.5(COL5A1):c.*1260G>A
|
rs557696379
|
0.00001
|
|
NM_000093.5(COL5A1):c.*589G>A
|
rs886063682
|
0.00001
|
|
NM_000093.5(COL5A1):c.*596A>G
|
rs775044518
|
0.00001
|
|
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser)
|
rs751277764
|
0.00001
|
|
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=)
|
rs761397885
|
0.00001
|
|
NM_000093.5(COL5A1):c.1044G>A (p.Thr348=)
|
rs1246095864
|
0.00001
|
|
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=)
|
rs370018361
|
0.00001
|
|
NM_000093.5(COL5A1):c.1067C>T (p.Thr356Ile)
|
rs777844099
|
0.00001
|
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00001
|
|
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn)
|
rs1420950002
|
0.00001
|
|
NM_000093.5(COL5A1):c.1119G>A (p.Gly373=)
|
rs1060504528
|
0.00001
|
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
|
NM_000093.5(COL5A1):c.1131C>T (p.Pro377=)
|
rs747058182
|
0.00001
|
|
NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro)
|
rs757379111
|
0.00001
|
|
NM_000093.5(COL5A1):c.1134C>T (p.Thr378=)
|
rs373594322
|
0.00001
|
|
NM_000093.5(COL5A1):c.1140C>T (p.Thr380=)
|
rs749315207
|
0.00001
|
|
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)
|
rs768269251
|
0.00001
|
|
NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe)
|
rs773041897
|
0.00001
|
|
NM_000093.5(COL5A1):c.1172C>T (p.Pro391Leu)
|
rs373102877
|
0.00001
|
|
NM_000093.5(COL5A1):c.1175C>T (p.Pro392Leu)
|
rs1290737803
|
0.00001
|
|
NM_000093.5(COL5A1):c.1229G>A (p.Arg410Gln)
|
rs769244075
|
0.00001
|
|
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=)
|
rs1272170006
|
0.00001
|
|
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=)
|
rs775974461
|
0.00001
|
|
NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=)
|
rs746576822
|
0.00001
|
|
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His)
|
rs760798318
|
0.00001
|
|
NM_000093.5(COL5A1):c.1272C>A (p.Thr424=)
|
rs758427503
|
0.00001
|
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
|
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=)
|
rs200959477
|
0.00001
|
|
NM_000093.5(COL5A1):c.1332+4dup
|
rs886063674
|
0.00001
|
|
NM_000093.5(COL5A1):c.1333-7C>T
|
rs767294965
|
0.00001
|
|
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu)
|
rs753549769
|
0.00001
|
|
NM_000093.5(COL5A1):c.1389+14C>T
|
rs1219979772
|
0.00001
|
|
NM_000093.5(COL5A1):c.1389+7A>T
|
rs1281999280
|
0.00001
|
|
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)
|
rs1057518771
|
0.00001
|
|
NM_000093.5(COL5A1):c.1390-18C>T
|
rs1323115421
|
0.00001
|
|
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=)
|
rs1452745305
|
0.00001
|
|
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val)
|
rs763650548
|
0.00001
|
|
NM_000093.5(COL5A1):c.1431+20C>A
|
rs766773815
|
0.00001
|
|
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser)
|
rs1238395732
|
0.00001
|
|
NM_000093.5(COL5A1):c.1497C>T (p.Gly499=)
|
rs1473955537
|
0.00001
|
|
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu)
|
rs778866843
|
0.00001
|
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
|
NM_000093.5(COL5A1):c.1570-10A>T
|
rs530036079
|
0.00001
|
|
NM_000093.5(COL5A1):c.1638G>A (p.Ala546=)
|
rs775508023
|
0.00001
|
|
NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr)
|
rs761717025
|
0.00001
|
|
NM_000093.5(COL5A1):c.1663-10T>C
|
rs767306262
|
0.00001
|
|
NM_000093.5(COL5A1):c.1674G>A (p.Arg558=)
|
rs746502968
|
0.00001
|
|
NM_000093.5(COL5A1):c.1678C>G (p.Pro560Ala)
|
rs1321926947
|
0.00001
|
|
NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly)
|
rs1460929040
|
0.00001
|
|
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=)
|
rs143647239
|
0.00001
|
|
NM_000093.5(COL5A1):c.1717G>A (p.Val573Met)
|
rs1304946894
|
0.00001
|
|
NM_000093.5(COL5A1):c.1720-11T>A
|
rs863223444
|
0.00001
|
|
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys)
|
rs764609002
|
0.00001
|
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
|
NM_000093.5(COL5A1):c.1755G>A (p.Pro585=)
|
rs779658584
|
0.00001
|
|
NM_000093.5(COL5A1):c.1761C>T (p.Asp587=)
|
rs974596853
|
0.00001
|
|
NM_000093.5(COL5A1):c.1797G>A (p.Pro599=)
|
rs201463583
|
0.00001
|
|
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu)
|
rs749007253
|
0.00001
|
|
NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp)
|
rs772579783
|
0.00001
|
|
NM_000093.5(COL5A1):c.1828-3C>G
|
rs369608154
|
0.00001
|
|
NM_000093.5(COL5A1):c.186C>T (p.Cys62=)
|
rs778516121
|
0.00001
|
|
NM_000093.5(COL5A1):c.1882-4G>T
|
rs1253885983
|
0.00001
|
|
NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser)
|
rs183627101
|
0.00001
|
|
NM_000093.5(COL5A1):c.1936-10C>T
|
rs779506561
|
0.00001
|
|
NM_000093.5(COL5A1):c.1936-15C>G
|
rs755787951
|
0.00001
|
|
NM_000093.5(COL5A1):c.1943C>G (p.Pro648Arg)
|
rs143211526
|
0.00001
|
|
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn)
|
rs990265730
|
0.00001
|
|
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln)
|
rs146074704
|
0.00001
|
|
NM_000093.5(COL5A1):c.1989+15G>A
|
rs765969450
|
0.00001
|
|
NM_000093.5(COL5A1):c.1989+4G>A
|
rs1307138217
|
0.00001
|
|
NM_000093.5(COL5A1):c.198A>C (p.Arg66=)
|
rs1463204835
|
0.00001
|
|
NM_000093.5(COL5A1):c.1990-12T>C
|
rs776163211
|
0.00001
|
|
NM_000093.5(COL5A1):c.1995C>T (p.Asp665=)
|
rs765776659
|
0.00001
|
|
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys)
|
rs764603796
|
0.00001
|
|
NM_000093.5(COL5A1):c.2019G>T (p.Gly673=)
|
rs139822656
|
0.00001
|
|
NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu)
|
rs775102627
|
0.00001
|
|
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu)
|
rs1389473144
|
0.00001
|
|
NM_000093.5(COL5A1):c.2073T>A (p.Gly691=)
|
rs1037184070
|
0.00001
|
|
NM_000093.5(COL5A1):c.2133+9C>T
|
rs765287192
|
0.00001
|
|
NM_000093.5(COL5A1):c.214G>A (p.Asp72Asn)
|
rs376115028
|
0.00001
|
|
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser)
|
rs142612655
|
0.00001
|
|
NM_000093.5(COL5A1):c.2181C>T (p.Gly727=)
|
rs201298716
|
0.00001
|
|
NM_000093.5(COL5A1):c.2188-8C>T
|
rs369789387
|
0.00001
|
|
NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu)
|
rs1422097890
|
0.00001
|
|
NM_000093.5(COL5A1):c.2226A>G (p.Gly742=)
|
rs1338817325
|
0.00001
|
|
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=)
|
rs373617798
|
0.00001
|
|
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg)
|
rs769653444
|
0.00001
|
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
|
NM_000093.5(COL5A1):c.2282C>T (p.Pro761Leu)
|
rs150434732
|
0.00001
|
|
NM_000093.5(COL5A1):c.2331+11G>A
|
rs753145256
|
0.00001
|
|
NM_000093.5(COL5A1):c.2331+4G>A
|
rs1588532335
|
0.00001
|
|
NM_000093.5(COL5A1):c.2343C>T (p.Gly781=)
|
rs1384349031
|
0.00001
|
|
NM_000093.5(COL5A1):c.2382C>T (p.Val794=)
|
rs758190171
|
0.00001
|
|
NM_000093.5(COL5A1):c.2385+15C>T
|
rs937874882
|
0.00001
|
|
NM_000093.5(COL5A1):c.2388G>T (p.Gly796=)
|
rs1432407799
|
0.00001
|
|
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val)
|
rs745370910
|
0.00001
|
|
NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys)
|
rs1032017865
|
0.00001
|
|
NM_000093.5(COL5A1):c.2430+230C>G
|
rs1837207655
|
0.00001
|
|
NM_000093.5(COL5A1):c.2430+4A>C
|
rs772211603
|
0.00001
|
|
NM_000093.5(COL5A1):c.243G>A (p.Ala81=)
|
rs540291731
|
0.00001
|
|
NM_000093.5(COL5A1):c.2464A>G (p.Met822Val)
|
rs1060502262
|
0.00001
|
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
|
NM_000093.5(COL5A1):c.2485-18C>T
|
rs757531928
|
0.00001
|
|
NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu)
|
rs558752105
|
0.00001
|
|
NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln)
|
rs1837405294
|
0.00001
|
|
NM_000093.5(COL5A1):c.2538G>A (p.Lys846=)
|
rs751065864
|
0.00001
|
|
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr)
|
rs756903629
|
0.00001
|
|
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His)
|
rs767925708
|
0.00001
|
|
NM_000093.5(COL5A1):c.256C>T (p.Pro86Ser)
|
rs1277995091
|
0.00001
|
|
NM_000093.5(COL5A1):c.2580C>A (p.Pro860=)
|
rs762553184
|
0.00001
|
|
NM_000093.5(COL5A1):c.2593-14C>G
|
rs771529245
|
0.00001
|
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
|
NM_000093.5(COL5A1):c.2646+12C>T
|
rs751662116
|
0.00001
|
|
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=)
|
rs770622608
|
0.00001
|
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
|
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser)
|
rs542939338
|
0.00001
|
|
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val)
|
rs759338898
|
0.00001
|
|
NM_000093.5(COL5A1):c.2701-12C>G
|
rs751422216
|
0.00001
|
|
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=)
|
rs749844592
|
0.00001
|
|
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)
|
rs772211736
|
0.00001
|
|
NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp)
|
rs1257715072
|
0.00001
|
|
NM_000093.5(COL5A1):c.2739C>T (p.Gly913=)
|
rs1449725761
|
0.00001
|
|
NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met)
|
rs771090557
|
0.00001
|
|
NM_000093.5(COL5A1):c.2746-5T>C
|
rs777834778
|
0.00001
|
|
NM_000093.5(COL5A1):c.277+10G>T
|
rs774861340
|
0.00001
|
|
NM_000093.5(COL5A1):c.277+20G>C
|
rs772363522
|
0.00001
|
|
NM_000093.5(COL5A1):c.277+9C>T
|
rs748589808
|
0.00001
|
|
NM_000093.5(COL5A1):c.2770C>T (p.Arg924Trp)
|
rs1472700264
|
0.00001
|
|
NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln)
|
rs768711320
|
0.00001
|
|
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=)
|
rs774491536
|
0.00001
|
|
NM_000093.5(COL5A1):c.2800-17del
|
rs1168930103
|
0.00001
|
|
NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg)
|
rs751950836
|
0.00001
|
|
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=)
|
rs750716466
|
0.00001
|
|
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)
|
rs1131691874
|
0.00001
|
|
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln)
|
rs574551567
|
0.00001
|
|
NM_000093.5(COL5A1):c.2845-11T>C
|
rs769433136
|
0.00001
|
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
|
NM_000093.5(COL5A1):c.2847A>T (p.Gly949=)
|
rs898479012
|
0.00001
|
|
NM_000093.5(COL5A1):c.2880T>G (p.Pro960=)
|
rs560755167
|
0.00001
|
|
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=)
|
rs1244102860
|
0.00001
|
|
NM_000093.5(COL5A1):c.2898+20C>T
|
rs781174331
|
0.00001
|
|
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser)
|
rs1189111524
|
0.00001
|
|
NM_000093.5(COL5A1):c.2907A>G (p.Pro969=)
|
rs1281296909
|
0.00001
|
|
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)
|
rs1205167823
|
0.00001
|
|
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr)
|
rs774095835
|
0.00001
|
|
NM_000093.5(COL5A1):c.2967G>A (p.Lys989=)
|
rs1838131061
|
0.00001
|
|
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser)
|
rs777368013
|
0.00001
|
|
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=)
|
rs768883188
|
0.00001
|
|
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val)
|
rs761639579
|
0.00001
|
|
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met)
|
rs776676564
|
0.00001
|
|
NM_000093.5(COL5A1):c.3006+11G>A
|
rs749946777
|
0.00001
|
|
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu)
|
rs1001786208
|
0.00001
|
|
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser)
|
rs536758248
|
0.00001
|
|
NM_000093.5(COL5A1):c.3082C>T (p.Leu1028Phe)
|
rs762810181
|
0.00001
|
|
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=)
|
rs140590510
|
0.00001
|
|
NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=)
|
rs1016663584
|
0.00001
|
|
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu)
|
rs766852875
|
0.00001
|
|
NM_000093.5(COL5A1):c.3120C>T (p.Asp1040=)
|
rs1216403908
|
0.00001
|
|
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys)
|
rs367905915
|
0.00001
|
|
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His)
|
rs778769810
|
0.00001
|
|
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser)
|
rs1838252619
|
0.00001
|
|
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser)
|
rs763310793
|
0.00001
|
|
NM_000093.5(COL5A1):c.324C>T (p.Ala108=)
|
rs765929345
|
0.00001
|
|
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=)
|
rs949276689
|
0.00001
|
|
NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala)
|
rs1315080321
|
0.00001
|
|
NM_000093.5(COL5A1):c.3299C>T (p.Pro1100Leu)
|
rs564375308
|
0.00001
|
|
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His)
|
rs1482501113
|
0.00001
|
|
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala)
|
rs926426117
|
0.00001
|
|
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu)
|
rs139039658
|
0.00001
|
|
NM_000093.5(COL5A1):c.3346G>T (p.Ala1116Ser)
|
rs1838294621
|
0.00001
|
|
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro)
|
rs863223449
|
0.00001
|
|
NM_000093.5(COL5A1):c.3366+11C>T
|
rs863223438
|
0.00001
|
|
NM_000093.5(COL5A1):c.3367-16C>G
|
rs1166753078
|
0.00001
|
|
NM_000093.5(COL5A1):c.3441C>A (p.Gly1147=)
|
rs755982747
|
0.00001
|
|
NM_000093.5(COL5A1):c.3453C>T (p.Pro1151=)
|
rs753485525
|
0.00001
|
|
NM_000093.5(COL5A1):c.3492G>A (p.Pro1164=)
|
rs774312418
|
0.00001
|
|
NM_000093.5(COL5A1):c.3528+12C>T
|
rs927953209
|
0.00001
|
|
NM_000093.5(COL5A1):c.3528+15G>A
|
rs541481267
|
0.00001
|
|
NM_000093.5(COL5A1):c.3529-5C>T
|
rs755227263
|
0.00001
|
|
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile)
|
rs1057524867
|
0.00001
|
|
NM_000093.5(COL5A1):c.354C>T (p.Ser118=)
|
rs748711211
|
0.00001
|
|
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu)
|
rs749093832
|
0.00001
|
|
NM_000093.5(COL5A1):c.3582+20G>T
|
rs375930756
|
0.00001
|
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
|
NM_000093.5(COL5A1):c.363C>T (p.Asn121=)
|
rs369180922
|
0.00001
|
|
NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=)
|
rs1351482667
|
0.00001
|
|
NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys)
|
rs1588448757
|
0.00001
|
|
NM_000093.5(COL5A1):c.3654A>G (p.Arg1218=)
|
rs1330978908
|
0.00001
|
|
NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala)
|
rs1564475073
|
0.00001
|
|
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)
|
rs770392149
|
0.00001
|
|
NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg)
|
rs771075651
|
0.00001
|
|
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)
|
rs1356081271
|
0.00001
|
|
NM_000093.5(COL5A1):c.3733G>A (p.Val1245Met)
|
rs1435045393
|
0.00001
|
|
NM_000093.5(COL5A1):c.3744+12T>G
|
rs750453604
|
0.00001
|
|
NM_000093.5(COL5A1):c.3745-20T>A
|
rs760842092
|
0.00001
|
|
NM_000093.5(COL5A1):c.3771A>G (p.Arg1257=)
|
rs1042269053
|
0.00001
|
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
|
NM_000093.5(COL5A1):c.3852+10G>A
|
rs749190469
|
0.00001
|
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
|
NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=)
|
rs879205988
|
0.00001
|
|
NM_000093.5(COL5A1):c.3921A>G (p.Glu1307=)
|
rs1322220087
|
0.00001
|
|
NM_000093.5(COL5A1):c.3933G>A (p.Lys1311=)
|
rs1331038066
|
0.00001
|
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
|
NM_000093.5(COL5A1):c.3961G>A (p.Gly1321Arg)
|
rs1034436638
|
0.00001
|
|
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=)
|
rs1363178603
|
0.00001
|
|
NM_000093.5(COL5A1):c.4015-19C>T
|
rs527971001
|
0.00001
|
|
NM_000093.5(COL5A1):c.4069-4A>G
|
rs377325113
|
0.00001
|
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
|
NM_000093.5(COL5A1):c.4176+19A>C
|
rs746397034
|
0.00001
|
|
NM_000093.5(COL5A1):c.4177-8T>A
|
rs1838818747
|
0.00001
|
|
NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser)
|
rs761962890
|
0.00001
|
|
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
|
rs765217611
|
0.00001
|
|
NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys)
|
rs1370262542
|
0.00001
|
|
NM_000093.5(COL5A1):c.4231-10C>T
|
rs772316957
|
0.00001
|
|
NM_000093.5(COL5A1):c.4231-13C>T
|
rs558048358
|
0.00001
|
|
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys)
|
rs376893441
|
0.00001
|
|
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser)
|
rs370151534
|
0.00001
|
|
NM_000093.5(COL5A1):c.4276G>A (p.Gly1426Ser)
|
rs374868484
|
0.00001
|
|
NM_000093.5(COL5A1):c.427C>A (p.His143Asn)
|
rs863223465
|
0.00001
|
|
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly)
|
rs765920886
|
0.00001
|
|
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)
|
rs755495352
|
0.00001
|
|
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser)
|
rs757989702
|
0.00001
|
|
NM_000093.5(COL5A1):c.4338+18G>C
|
rs781247782
|
0.00001
|
|
NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys)
|
rs1838876394
|
0.00001
|
|
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val)
|
rs369740453
|
0.00001
|
|
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)
|
rs201875250
|
0.00001
|
|
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=)
|
rs756096066
|
0.00001
|
|
NM_000093.5(COL5A1):c.4392+16C>T
|
rs763448522
|
0.00001
|
|
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser)
|
rs750864661
|
0.00001
|
|
NM_000093.5(COL5A1):c.4446+16C>T
|
rs1392869887
|
0.00001
|
|
NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn)
|
rs1422012959
|
0.00001
|
|
NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys)
|
rs200987038
|
0.00001
|
|
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala)
|
rs1008518818
|
0.00001
|
|
NM_000093.5(COL5A1):c.4554+12G>A
|
rs777162668
|
0.00001
|
|
NM_000093.5(COL5A1):c.4554+5G>A
|
rs375489070
|
0.00001
|
|
NM_000093.5(COL5A1):c.4555-8C>T
|
rs1393610396
|
0.00001
|
|
NM_000093.5(COL5A1):c.456C>T (p.Tyr152=)
|
rs1833616245
|
0.00001
|
|
NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=)
|
rs770238710
|
0.00001
|
|
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)
|
rs201582108
|
0.00001
|
|
NM_000093.5(COL5A1):c.458C>A (p.Pro153His)
|
rs771925785
|
0.00001
|
|
NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=)
|
rs774464652
|
0.00001
|
|
NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala)
|
rs1839028918
|
0.00001
|
|
NM_000093.5(COL5A1):c.4608+3G>T
|
rs1164584886
|
0.00001
|
|
NM_000093.5(COL5A1):c.460C>T (p.Leu154Phe)
|
rs1554781521
|
0.00001
|
|
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)
|
rs775335297
|
0.00001
|
|
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=)
|
rs762698462
|
0.00001
|
|
NM_000093.5(COL5A1):c.4644+11T>C
|
rs559588659
|
0.00001
|
|
NM_000093.5(COL5A1):c.4644+16C>T
|
rs376268793
|
0.00001
|
|
NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro)
|
rs376821494
|
0.00001
|
|
NM_000093.5(COL5A1):c.4668G>A (p.Glu1556=)
|
rs1457901052
|
0.00001
|
|
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser)
|
rs770278589
|
0.00001
|
|
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=)
|
rs775725420
|
0.00001
|
|
NM_000093.5(COL5A1):c.474C>T (p.Ile158=)
|
rs372769772
|
0.00001
|
|
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp)
|
rs758378927
|
0.00001
|
|
NM_000093.5(COL5A1):c.4762G>A (p.Asp1588Asn)
|
rs863223480
|
0.00001
|
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
|
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn)
|
rs748610273
|
0.00001
|
|
NM_000093.5(COL5A1):c.4786G>A (p.Gly1596Arg)
|
rs918778766
|
0.00001
|
|
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=)
|
rs886063677
|
0.00001
|
|
NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr)
|
rs1024649360
|
0.00001
|
|
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=)
|
rs755728242
|
0.00001
|
|
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)
|
rs754447923
|
0.00001
|
|
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp)
|
rs763091062
|
0.00001
|
|
NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser)
|
rs764543567
|
0.00001
|
|
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=)
|
rs778483767
|
0.00001
|
|
NM_000093.5(COL5A1):c.492-16A>G
|
rs775028310
|
0.00001
|
|
NM_000093.5(COL5A1):c.492-3C>T
|
rs1027866868
|
0.00001
|
|
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)
|
rs730880064
|
0.00001
|
|
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr)
|
rs863223461
|
0.00001
|
|
NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg)
|
rs1273195387
|
0.00001
|
|
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
|
rs746071518
|
0.00001
|
|
NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=)
|
rs367902089
|
0.00001
|
|
NM_000093.5(COL5A1):c.5033C>G (p.Ser1678Trp)
|
rs145299315
|
0.00001
|
|
NM_000093.5(COL5A1):c.5067+7A>G
|
rs374122742
|
0.00001
|
|
NM_000093.5(COL5A1):c.5068-13G>A
|
rs761059323
|
0.00001
|
|
NM_000093.5(COL5A1):c.5068-9C>T
|
rs572218532
|
0.00001
|
|
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
|
rs188120737
|
0.00001
|
|
NM_000093.5(COL5A1):c.5099C>T (p.Pro1700Leu)
|
rs751699482
|
0.00001
|
|
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys)
|
rs375586129
|
0.00001
|
|
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg)
|
rs1339470102
|
0.00001
|
|
NM_000093.5(COL5A1):c.5136+17C>T
|
rs765571792
|
0.00001
|
|
NM_000093.5(COL5A1):c.5137-5C>T
|
rs748416238
|
0.00001
|
|
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr)
|
rs760992656
|
0.00001
|
|
NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp)
|
rs1243519195
|
0.00001
|
|
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)
|
rs753339980
|
0.00001
|
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
|
NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile)
|
rs946316218
|
0.00001
|
|
NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg)
|
rs370607849
|
0.00001
|
|
NM_000093.5(COL5A1):c.5234A>T (p.His1745Leu)
|
rs370607849
|
0.00001
|
|
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)
|
rs776748227
|
0.00001
|
|
NM_000093.5(COL5A1):c.5298C>T (p.Phe1766=)
|
rs1231716528
|
0.00001
|
|
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=)
|
rs754379329
|
0.00001
|
|
NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)
|
rs759042440
|
0.00001
|
|
NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His)
|
rs778249693
|
0.00001
|
|
NM_000093.5(COL5A1):c.5358G>T (p.Val1786=)
|
rs766205598
|
0.00001
|
|
NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser)
|
rs759291514
|
0.00001
|
|
NM_000093.5(COL5A1):c.5370+12G>A
|
rs752141684
|
0.00001
|
|
NM_000093.5(COL5A1):c.5372C>A (p.Thr1791Asn)
|
rs1258210858
|
0.00001
|
|
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)
|
rs761036527
|
0.00001
|
|
NM_000093.5(COL5A1):c.540C>A (p.Ile180=)
|
rs374994926
|
0.00001
|
|
NM_000093.5(COL5A1):c.5421G>A (p.Val1807=)
|
rs1245708449
|
0.00001
|
|
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)
|
rs1830127790
|
0.00001
|
|
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=)
|
rs886063678
|
0.00001
|
|
NM_000093.5(COL5A1):c.543C>T (p.Leu181=)
|
rs368485498
|
0.00001
|
|
NM_000093.5(COL5A1):c.544G>A (p.Asp182Asn)
|
rs761005141
|
0.00001
|
|
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=)
|
rs748940142
|
0.00001
|
|
NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp)
|
rs1251114548
|
0.00001
|
|
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser)
|
rs863223482
|
0.00001
|
|
NM_000093.5(COL5A1):c.5497C>T (p.Pro1833Ser)
|
rs370789226
|
0.00001
|
|
NM_000093.5(COL5A1):c.551A>G (p.Lys184Arg)
|
rs1833662587
|
0.00001
|
|
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys)
|
rs765170704
|
0.00001
|
|
NM_000093.5(COL5A1):c.582C>T (p.Ser194=)
|
rs563191799
|
0.00001
|
|
NM_000093.5(COL5A1):c.595A>G (p.Ile199Val)
|
rs1041369357
|
0.00001
|
|
NM_000093.5(COL5A1):c.609C>T (p.Gly203=)
|
rs146054551
|
0.00001
|
|
NM_000093.5(COL5A1):c.610A>G (p.Ile204Val)
|
rs1060502245
|
0.00001
|
|
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)
|
rs1490728700
|
0.00001
|
|
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln)
|
rs1382944823
|
0.00001
|
|
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)
|
rs775853003
|
0.00001
|
|
NM_000093.5(COL5A1):c.692G>A (p.Arg231Gln)
|
rs373597685
|
0.00001
|
|
NM_000093.5(COL5A1):c.702T>C (p.Tyr234=)
|
rs767696801
|
0.00001
|
|
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly)
|
rs1433120962
|
0.00001
|
|
NM_000093.5(COL5A1):c.723C>T (p.Ser241=)
|
rs1554787555
|
0.00001
|
|
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn)
|
rs758431206
|
0.00001
|
|
NM_000093.5(COL5A1):c.756A>C (p.Pro252=)
|
rs1030582099
|
0.00001
|
|
NM_000093.5(COL5A1):c.762G>T (p.Ser254=)
|
rs767928508
|
0.00001
|
|
NM_000093.5(COL5A1):c.786+11T>G
|
rs766319028
|
0.00001
|
|
NM_000093.5(COL5A1):c.787-9C>G
|
rs751472921
|
0.00001
|
|
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro)
|
rs863223440
|
0.00001
|
|
NM_000093.5(COL5A1):c.801C>T (p.Asp267=)
|
rs778401280
|
0.00001
|
|
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=)
|
rs771253587
|
0.00001
|
|
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met)
|
rs1312200383
|
0.00001
|
|
NM_000093.5(COL5A1):c.846C>T (p.Asp282=)
|
rs775736911
|
0.00001
|
|
NM_000093.5(COL5A1):c.849C>T (p.Pro283=)
|
rs761805821
|
0.00001
|
|
NM_000093.5(COL5A1):c.888C>T (p.Pro296=)
|
rs747624704
|
0.00001
|
|
NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu)
|
rs1445863121
|
0.00001
|
|
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys)
|
rs199857770
|
0.00001
|
|
NM_000093.5(COL5A1):c.987G>A (p.Lys329=)
|
rs769516996
|
0.00001
|
|
NM_000302.4(PLOD1):c.-58G>A
|
rs552712043
|
0.00001
|
|
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp)
|
rs1195535094
|
0.00001
|
|
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys)
|
rs748344499
|
0.00001
|
|
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp)
|
rs775007891
|
0.00001
|
|
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=)
|
rs1159010003
|
0.00001
|
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
|
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr)
|
rs367592901
|
0.00001
|
|
NM_000302.4(PLOD1):c.1097+10G>A
|
rs562510011
|
0.00001
|
|
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser)
|
rs754748178
|
0.00001
|
|
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys)
|
rs538407894
|
0.00001
|
|
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys)
|
rs373520363
|
0.00001
|
|
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys)
|
rs764179880
|
0.00001
|
|
NM_000302.4(PLOD1):c.117G>A (p.Glu39=)
|
rs779453447
|
0.00001
|
|
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp)
|
rs1428519006
|
0.00001
|
|
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln)
|
rs767839550
|
0.00001
|
|
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro)
|
rs1434675020
|
0.00001
|
|
NM_000302.4(PLOD1):c.1202+14G>A
|
rs757830518
|
0.00001
|
|
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile)
|
rs773517731
|
0.00001
|
|
NM_000302.4(PLOD1):c.1209C>T (p.Val403=)
|
rs1401528073
|
0.00001
|
|
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu)
|
rs753623016
|
0.00001
|
|
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys)
|
rs778603432
|
0.00001
|
|
NM_000302.4(PLOD1):c.1299C>T (p.Asp433=)
|
rs886039111
|
0.00001
|
|
NM_000302.4(PLOD1):c.1317G>A (p.Gln439=)
|
rs1334363341
|
0.00001
|
|
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His)
|
rs199567720
|
0.00001
|
|
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp)
|
rs1204551467
|
0.00001
|
|
NM_000302.4(PLOD1):c.135G>A (p.Lys45=)
|
rs765354146
|
0.00001
|
|
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser)
|
rs758780380
|
0.00001
|
|
NM_000302.4(PLOD1):c.1461C>T (p.Ile487=)
|
rs746099980
|
0.00001
|
|
NM_000302.4(PLOD1):c.1471-17G>A
|
rs373324035
|
0.00001
|
|
NM_000302.4(PLOD1):c.1471-2A>G
|
rs1401035675
|
0.00001
|
|
NM_000302.4(PLOD1):c.1471-6C>T
|
rs751904520
|
0.00001
|
|
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile)
|
rs780133138
|
0.00001
|
|
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg)
|
rs555034048
|
0.00001
|
|
NM_000302.4(PLOD1):c.1515G>A (p.Leu505=)
|
rs1034116707
|
0.00001
|
|
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe)
|
rs1374717198
|
0.00001
|
|
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=)
|
rs1025133534
|
0.00001
|
|
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His)
|
rs773170096
|
0.00001
|
|
NM_000302.4(PLOD1):c.1542C>T (p.Thr514=)
|
rs916626462
|
0.00001
|
|
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr)
|
rs746905101
|
0.00001
|
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
|
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val)
|
rs376017234
|
0.00001
|
|
NM_000302.4(PLOD1):c.1659G>A (p.Pro553=)
|
rs778242162
|
0.00001
|
|
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter)
|
rs1433428588
|
0.00001
|
|
NM_000302.4(PLOD1):c.169-6C>T
|
rs766073845
|
0.00001
|
|
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp)
|
rs769499769
|
0.00001
|
|
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu)
|
rs766973023
|
0.00001
|
|
NM_000302.4(PLOD1):c.1872G>A (p.Thr624=)
|
rs1026914936
|
0.00001
|
|
NM_000302.4(PLOD1):c.1887C>T (p.Pro629=)
|
rs1359830439
|
0.00001
|
|
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
|
rs1439043436
|
0.00001
|
|
NM_000302.4(PLOD1):c.1926C>T (p.Val642=)
|
rs763454814
|
0.00001
|
|
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg)
|
rs1221992885
|
0.00001
|
|
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val)
|
rs1487304416
|
0.00001
|
|
NM_000302.4(PLOD1):c.1998C>T (p.Ile666=)
|
rs748080300
|
0.00001
|
|
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln)
|
rs755654001
|
0.00001
|
|
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys)
|
rs748841458
|
0.00001
|
|
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His)
|
rs772498138
|
0.00001
|
|
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter)
|
rs373094220
|
0.00001
|
|
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val)
|
rs1415378080
|
0.00001
|
|
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met)
|
rs780253192
|
0.00001
|
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
|
NM_000302.4(PLOD1):c.2172C>T (p.Phe724=)
|
rs1255270684
|
0.00001
|
|
NM_000302.4(PLOD1):c.2175C>T (p.Val725=)
|
rs768818916
|
0.00001
|
|
NM_000302.4(PLOD1):c.246G>A (p.Lys82=)
|
rs1258534388
|
0.00001
|
|
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser)
|
rs886039207
|
0.00001
|
|
NM_000302.4(PLOD1):c.303-7G>A
|
rs1428437805
|
0.00001
|
|
NM_000302.4(PLOD1):c.309C>T (p.Asp103=)
|
rs750096749
|
0.00001
|
|
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp)
|
rs772221158
|
0.00001
|
|
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp)
|
rs771186398
|
0.00001
|
|
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln)
|
rs781455578
|
0.00001
|
|
NM_000302.4(PLOD1):c.354G>C (p.Arg118=)
|
rs746072884
|
0.00001
|
|
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser)
|
rs768422539
|
0.00001
|
|
NM_000302.4(PLOD1):c.466+3G>A
|
rs779840832
|
0.00001
|
|
NM_000302.4(PLOD1):c.467-2del
|
rs1440249864
|
0.00001
|
|
NM_000302.4(PLOD1):c.498A>G (p.Lys166=)
|
rs1290621264
|
0.00001
|
|
NM_000302.4(PLOD1):c.54G>A (p.Ala18=)
|
rs1266038179
|
0.00001
|
|
NM_000302.4(PLOD1):c.562T>C (p.Leu188=)
|
rs967684441
|
0.00001
|
|
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser)
|
rs750416079
|
0.00001
|
|
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys)
|
rs534314930
|
0.00001
|
|
NM_000302.4(PLOD1):c.643+13C>A
|
rs1297071034
|
0.00001
|
|
NM_000302.4(PLOD1):c.643+8G>T
|
rs768848010
|
0.00001
|
|
NM_000302.4(PLOD1):c.644-16G>A
|
rs778818723
|
0.00001
|
|
NM_000302.4(PLOD1):c.651C>T (p.Val217=)
|
rs759435283
|
0.00001
|
|
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala)
|
rs376643174
|
0.00001
|
|
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)
|
rs1438879558
|
0.00001
|
|
NM_000302.4(PLOD1):c.741+4G>C
|
rs763641520
|
0.00001
|
|
NM_000302.4(PLOD1):c.741+7G>A
|
rs751215041
|
0.00001
|
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
|
NM_000302.4(PLOD1):c.789C>T (p.Phe263=)
|
rs908800499
|
0.00001
|
|
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp)
|
rs558752942
|
0.00001
|
|
NM_000302.4(PLOD1):c.824G>A (p.Arg275His)
|
rs184999645
|
0.00001
|
|
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)
|
rs776894307
|
0.00001
|
|
NM_000302.4(PLOD1):c.844-16G>A
|
rs565657931
|
0.00001
|
|
NM_000302.4(PLOD1):c.846T>C (p.Asp282=)
|
rs755620088
|
0.00001
|
|
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser)
|
rs748920493
|
0.00001
|
|
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met)
|
rs777957649
|
0.00001
|
|
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser)
|
rs776772692
|
0.00001
|
|
NM_000302.4(PLOD1):c.873C>T (p.Gly291=)
|
rs1391173198
|
0.00001
|
|
NM_000302.4(PLOD1):c.894G>A (p.Thr298=)
|
rs763229200
|
0.00001
|
|
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu)
|
rs532145123
|
0.00001
|
|
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln)
|
rs960778465
|
0.00001
|
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
|
NM_000302.4(PLOD1):c.951C>T (p.His317=)
|
rs770032875
|
0.00001
|
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
0.00001
|
|
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)
|
rs1224538282
|
0.00001
|
|
NM_000393.5(COL5A2):c.*1460A>T
|
rs886055349
|
0.00001
|
|
NM_000393.5(COL5A2):c.*1970T>G
|
rs548360577
|
0.00001
|
|
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu)
|
rs766349082
|
0.00001
|
|
NM_000393.5(COL5A2):c.1040T>A (p.Leu347His)
|
rs1356274894
|
0.00001
|
|
NM_000393.5(COL5A2):c.1059+13G>C
|
rs1559093269
|
0.00001
|
|
NM_000393.5(COL5A2):c.1059+15T>C
|
rs772728428
|
0.00001
|
|
NM_000393.5(COL5A2):c.1059+9A>G
|
rs776100559
|
0.00001
|
|
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln)
|
rs761072017
|
0.00001
|
|
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg)
|
rs760117362
|
0.00001
|
|
NM_000393.5(COL5A2):c.1158+14G>A
|
rs1057523022
|
0.00001
|
|
NM_000393.5(COL5A2):c.1159-10A>G
|
rs767892138
|
0.00001
|
|
NM_000393.5(COL5A2):c.1159-13T>C
|
rs756321922
|
0.00001
|
|
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=)
|
rs863223485
|
0.00001
|
|
NM_000393.5(COL5A2):c.1246C>G (p.Pro416Ala)
|
rs1412825331
|
0.00001
|
|
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val)
|
rs1391129049
|
0.00001
|
|
NM_000393.5(COL5A2):c.1302+9T>C
|
rs1199559237
|
0.00001
|
|
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)
|
rs376170776
|
0.00001
|
|
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu)
|
rs757674141
|
0.00001
|
|
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)
|
rs778385867
|
0.00001
|
|
NM_000393.5(COL5A2):c.1365G>A (p.Gln455=)
|
rs1200615943
|
0.00001
|
|
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln)
|
rs1553515798
|
0.00001
|
|
NM_000393.5(COL5A2):c.142T>C (p.Tyr48His)
|
rs750126490
|
0.00001
|
|
NM_000393.5(COL5A2):c.1456-10T>C
|
rs918840882
|
0.00001
|
|
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)
|
rs144540534
|
0.00001
|
|
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser)
|
rs780495441
|
0.00001
|
|
NM_000393.5(COL5A2):c.1527A>C (p.Pro509=)
|
rs202234821
|
0.00001
|
|
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=)
|
rs770622592
|
0.00001
|
|
NM_000393.5(COL5A2):c.1563+5A>G
|
rs777118100
|
0.00001
|
|
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys)
|
rs863223490
|
0.00001
|
|
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
|
rs1443765130
|
0.00001
|
|
NM_000393.5(COL5A2):c.1611G>A (p.Gly537=)
|
rs1686117535
|
0.00001
|
|
NM_000393.5(COL5A2):c.1618-17G>A
|
rs1272843185
|
0.00001
|
|
NM_000393.5(COL5A2):c.1618-8C>T
|
rs746841809
|
0.00001
|
|
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser)
|
rs369506320
|
0.00001
|
|
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg)
|
rs1184276149
|
0.00001
|
|
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His)
|
rs1199481029
|
0.00001
|
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
|
NM_000393.5(COL5A2):c.1698T>G (p.Pro566=)
|
rs1483483512
|
0.00001
|
|
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg)
|
rs863223503
|
0.00001
|
|
NM_000393.5(COL5A2):c.1704T>C (p.Leu568=)
|
rs776228988
|
0.00001
|
|
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp)
|
rs768322852
|
0.00001
|
|
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)
|
rs760408439
|
0.00001
|
|
NM_000393.5(COL5A2):c.1716+12G>A
|
rs745767713
|
0.00001
|
|
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile)
|
rs771004951
|
0.00001
|
|
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
|
rs544303636
|
0.00001
|
|
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu)
|
rs863223505
|
0.00001
|
|
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu)
|
rs746458284
|
0.00001
|
|
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=)
|
rs140541824
|
0.00001
|
|
NM_000393.5(COL5A2):c.1A>G (p.Met1Val)
|
rs563606558
|
0.00001
|
|
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys)
|
rs144652675
|
0.00001
|
|
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr)
|
rs904166744
|
0.00001
|
|
NM_000393.5(COL5A2):c.2031+14C>T
|
rs749030256
|
0.00001
|
|
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr)
|
rs765785677
|
0.00001
|
|
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)
|
rs772811492
|
0.00001
|
|
NM_000393.5(COL5A2):c.2121A>G (p.Leu707=)
|
rs1247190308
|
0.00001
|
|
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=)
|
rs1451386429
|
0.00001
|
|
NM_000393.5(COL5A2):c.2131-16C>T
|
rs1187598016
|
0.00001
|
|
NM_000393.5(COL5A2):c.2131-5G>T
|
rs1219841781
|
0.00001
|
|
NM_000393.5(COL5A2):c.2138G>A (p.Arg713Gln)
|
rs776302656
|
0.00001
|
|
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr)
|
rs372812220
|
0.00001
|
|
NM_000393.5(COL5A2):c.2229+10A>G
|
rs1269243284
|
0.00001
|
|
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala)
|
rs753363765
|
0.00001
|
|
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=)
|
rs549187703
|
0.00001
|
|
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=)
|
rs138457003
|
0.00001
|
|
NM_000393.5(COL5A2):c.2338-10G>A
|
rs1017894646
|
0.00001
|
|
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val)
|
rs1270917752
|
0.00001
|
|
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)
|
rs746454126
|
0.00001
|
|
NM_000393.5(COL5A2):c.2392-4A>G
|
rs758314268
|
0.00001
|
|
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
|
rs1458760818
|
0.00001
|
|
NM_000393.5(COL5A2):c.2400A>G (p.Pro800=)
|
rs1335810893
|
0.00001
|
|
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)
|
rs575864379
|
0.00001
|
|
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)
|
rs200019093
|
0.00001
|
|
NM_000393.5(COL5A2):c.2486C>T (p.Ser829Phe)
|
rs771633594
|
0.00001
|
|
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp)
|
rs778544623
|
0.00001
|
|
NM_000393.5(COL5A2):c.2499+18G>T
|
rs1275018864
|
0.00001
|
|
NM_000393.5(COL5A2):c.2500-12G>T
|
rs749087232
|
0.00001
|
|
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn)
|
rs745528957
|
0.00001
|
|
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=)
|
rs1192759045
|
0.00001
|
|
NM_000393.5(COL5A2):c.2554-5T>C
|
rs373495598
|
0.00001
|
|
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg)
|
rs1064795616
|
0.00001
|
|
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)
|
rs746155819
|
0.00001
|
|
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met)
|
rs778591411
|
0.00001
|
|
NM_000393.5(COL5A2):c.2623C>T (p.Pro875Ser)
|
rs754389345
|
0.00001
|
|
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
|
rs760858324
|
0.00001
|
|
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)
|
rs773515722
|
0.00001
|
|
NM_000393.5(COL5A2):c.2715+12T>G
|
rs369677461
|
0.00001
|
|
NM_000393.5(COL5A2):c.2715+16G>A
|
rs774654781
|
0.00001
|
|
NM_000393.5(COL5A2):c.2715+18T>G
|
rs781686307
|
0.00001
|
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
|
NM_000393.5(COL5A2):c.2745C>A (p.Gly915=)
|
rs778360315
|
0.00001
|
|
NM_000393.5(COL5A2):c.2756C>T (p.Pro919Leu)
|
rs1388047059
|
0.00001
|
|
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser)
|
rs1189019903
|
0.00001
|
|
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)
|
rs747843876
|
0.00001
|
|
NM_000393.5(COL5A2):c.2791C>T (p.Pro931Ser)
|
rs1182035468
|
0.00001
|
|
NM_000393.5(COL5A2):c.2800G>C (p.Glu934Gln)
|
rs751499848
|
0.00001
|
|
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=)
|
rs141089340
|
0.00001
|
|
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)
|
rs761988412
|
0.00001
|
|
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr)
|
rs1027615025
|
0.00001
|
|
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu)
|
rs1200990468
|
0.00001
|
|
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=)
|
rs372780282
|
0.00001
|
|
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp)
|
rs759604513
|
0.00001
|
|
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=)
|
rs1685766903
|
0.00001
|
|
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=)
|
rs757271535
|
0.00001
|
|
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)
|
rs1040238147
|
0.00001
|
|
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)
|
rs1354785209
|
0.00001
|
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
|
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=)
|
rs777896102
|
0.00001
|
|
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=)
|
rs756259584
|
0.00001
|
|
NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu)
|
rs777070552
|
0.00001
|
|
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val)
|
rs763462242
|
0.00001
|
|
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser)
|
rs187336363
|
0.00001
|
|
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=)
|
rs769755441
|
0.00001
|
|
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
|
rs768663426
|
0.00001
|
|
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp)
|
rs1449512324
|
0.00001
|
|
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=)
|
rs746246121
|
0.00001
|
|
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys)
|
rs779213867
|
0.00001
|
|
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
|
rs539362640
|
0.00001
|
|
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His)
|
rs780705330
|
0.00001
|
|
NM_000393.5(COL5A2):c.3201+8C>A
|
rs751150447
|
0.00001
|
|
NM_000393.5(COL5A2):c.324T>C (p.Gly108=)
|
rs201881801
|
0.00001
|
|
NM_000393.5(COL5A2):c.3250G>A (p.Ala1084Thr)
|
rs1432653441
|
0.00001
|
|
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=)
|
rs1576490715
|
0.00001
|
|
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser)
|
rs761543775
|
0.00001
|
|
NM_000393.5(COL5A2):c.3299G>C (p.Arg1100Thr)
|
rs942673350
|
0.00001
|
|
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln)
|
rs369725456
|
0.00001
|
|
NM_000393.5(COL5A2):c.3330A>G (p.Gly1110=)
|
rs928228342
|
0.00001
|
|
NM_000393.5(COL5A2):c.3336T>A (p.Pro1112=)
|
rs773532298
|
0.00001
|
|
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
|
NM_000393.5(COL5A2):c.3363+2T>C
|
rs1559076442
|
0.00001
|
|
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)
|
rs886055354
|
0.00001
|
|
NM_000393.5(COL5A2):c.3406C>A (p.Arg1136=)
|
rs754843093
|
0.00001
|
|
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=)
|
rs574148843
|
0.00001
|
|
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=)
|
rs754108091
|
0.00001
|
|
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser)
|
rs367939836
|
0.00001
|
|
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=)
|
rs140022057
|
0.00001
|
|
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala)
|
rs863223496
|
0.00001
|
|
NM_000393.5(COL5A2):c.3586A>G (p.Ile1196Val)
|
rs1271802995
|
0.00001
|
|
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn)
|
rs1060501907
|
0.00001
|
|
NM_000393.5(COL5A2):c.3633+12A>G
|
rs886055353
|
0.00001
|
|
NM_000393.5(COL5A2):c.3633+14G>T
|
rs776087725
|
0.00001
|
|
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
|
rs1056466895
|
0.00001
|
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
|
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg)
|
rs773321546
|
0.00001
|
|
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
|
rs762902468
|
0.00001
|
|
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val)
|
rs1064795177
|
0.00001
|
|
NM_000393.5(COL5A2):c.3832C>A (p.Gln1278Lys)
|
rs147767226
|
0.00001
|
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
|
NM_000393.5(COL5A2):c.383G>A (p.Arg128His)
|
rs757439328
|
0.00001
|
|
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn)
|
rs1194645204
|
0.00001
|
|
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser)
|
rs766162092
|
0.00001
|
|
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys)
|
rs758136981
|
0.00001
|
|
NM_000393.5(COL5A2):c.3881G>A (p.Arg1294His)
|
rs150063612
|
0.00001
|
|
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn)
|
rs1553512886
|
0.00001
|
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
|
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg)
|
rs138900123
|
0.00001
|
|
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)
|
rs372897632
|
0.00001
|
|
NM_000393.5(COL5A2):c.3925+17C>T
|
rs1685506449
|
0.00001
|
|
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu)
|
rs745580343
|
0.00001
|
|
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)
|
rs141206016
|
0.00001
|
|
NM_000393.5(COL5A2):c.4089T>G (p.Gly1363=)
|
rs753760854
|
0.00001
|
|
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=)
|
rs755092575
|
0.00001
|
|
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala)
|
rs370026245
|
0.00001
|
|
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala)
|
rs1169417653
|
0.00001
|
|
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
|
rs754932150
|
0.00001
|
|
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly)
|
rs1685415466
|
0.00001
|
|
NM_000393.5(COL5A2):c.4297A>T (p.Ile1433Phe)
|
rs1409867440
|
0.00001
|
|
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly)
|
rs371259794
|
0.00001
|
|
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr)
|
rs754240060
|
0.00001
|
|
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)
|
rs146982082
|
0.00001
|
|
NM_000393.5(COL5A2):c.4353+9T>C
|
rs776352996
|
0.00001
|
|
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met)
|
rs745935107
|
0.00001
|
|
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)
|
rs1430667498
|
0.00001
|
|
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)
|
rs781760462
|
0.00001
|
|
NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=)
|
rs1193385199
|
0.00001
|
|
NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val)
|
rs1163031439
|
0.00001
|
|
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
|
rs531204336
|
0.00001
|
|
NM_000393.5(COL5A2):c.464G>A (p.Arg155His)
|
rs754702218
|
0.00001
|
|
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala)
|
rs1218677057
|
0.00001
|
|
NM_000393.5(COL5A2):c.491C>A (p.Pro164Gln)
|
rs1288294024
|
0.00001
|
|
NM_000393.5(COL5A2):c.528T>A (p.Pro176=)
|
rs751404827
|
0.00001
|
|
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu)
|
rs766179958
|
0.00001
|
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
|
NM_000393.5(COL5A2):c.615G>A (p.Gly205=)
|
rs757199738
|
0.00001
|
|
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile)
|
rs746289356
|
0.00001
|
|
NM_000393.5(COL5A2):c.687G>A (p.Gln229=)
|
rs1010903537
|
0.00001
|
|
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu)
|
rs1335028282
|
0.00001
|
|
NM_000393.5(COL5A2):c.690+17T>C
|
rs1171215082
|
0.00001
|
|
NM_000393.5(COL5A2):c.690+9C>G
|
rs745863682
|
0.00001
|
|
NM_000393.5(COL5A2):c.691-15T>G
|
rs756189756
|
0.00001
|
|
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser)
|
rs763287143
|
0.00001
|
|
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly)
|
rs773748617
|
0.00001
|
|
NM_000393.5(COL5A2):c.798+15C>T
|
rs1476791697
|
0.00001
|
|
NM_000393.5(COL5A2):c.798+5G>A
|
rs1296613540
|
0.00001
|
|
NM_000393.5(COL5A2):c.799-7C>A
|
rs879227018
|
0.00001
|
|
NM_000393.5(COL5A2):c.852+4A>T
|
rs376981154
|
0.00001
|
|
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr)
|
rs146648810
|
0.00001
|
|
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys)
|
rs779241228
|
0.00001
|
|
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly)
|
rs780865605
|
0.00001
|
|
NM_000393.5(COL5A2):c.878C>T (p.Pro293Leu)
|
rs754230712
|
0.00001
|
|
NM_000393.5(COL5A2):c.911A>G (p.His304Arg)
|
rs1576513195
|
0.00001
|
|
NM_000393.5(COL5A2):c.961-10T>G
|
rs770126461
|
0.00001
|
|
NM_000393.5(COL5A2):c.969T>C (p.Ala323=)
|
rs781515066
|
0.00001
|
|
NM_000477.5(ALB):c.71G>A (p.Arg24Gln)
|
rs74821926
|
0.00001
|
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
|
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)
|
rs1360400826
|
0.00001
|
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
|
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)
|
rs267606815
|
0.00001
|
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
|
NM_001110556.2(FLNA):c.2316C>A (p.Val772=)
|
rs2067723075
|
0.00001
|
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
|
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
|
rs1557178278
|
0.00001
|
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
|
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
|
rs781816229
|
0.00001
|
|
NM_001110556.2(FLNA):c.4474+3G>T
|
rs1286863443
|
0.00001
|
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
|
NM_001110556.2(FLNA):c.546G>C (p.Gln182His)
|
rs1557179648
|
0.00001
|
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.-9+3G>A
|
rs920033870
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=)
|
rs576702857
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.1101G>A (p.Ser367=)
|
rs1404886730
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.1108G>A (p.Val370Met)
|
rs772789507
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.1116A>G (p.Ter372=)
|
rs762617893
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.113G>A (p.Arg38Gln)
|
rs770839268
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.128C>T (p.Ala43Val)
|
rs762413647
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.140G>A (p.Arg47His)
|
rs754538699
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser)
|
rs563652715
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.184G>A (p.Gly62Arg)
|
rs200726045
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp)
|
rs121434363
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.234G>A (p.Val78=)
|
rs140298838
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.249C>T (p.Val83=)
|
rs1314433275
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile)
|
rs1317018795
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys)
|
rs369854018
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.302-17G>A
|
rs775872862
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.313C>T (p.Arg105Cys)
|
rs374468349
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.31A>G (p.Met11Val)
|
rs768592866
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.348A>G (p.Gly116=)
|
rs202080209
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.355G>T (p.Gly119Cys)
|
rs892859231
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.392C>T (p.Ala131Val)
|
rs370161381
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.399G>A (p.Thr133=)
|
rs539165797
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter)
|
rs752159748
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.477C>T (p.Ile159=)
|
rs778348255
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val)
|
rs2096004287
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.513C>T (p.Asp171=)
|
rs775273374
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.531C>T (p.Thr177=)
|
rs370685869
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.537+13C>T
|
rs1198805632
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.572C>T (p.Ala191Val)
|
rs200688736
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser)
|
rs746264976
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.589T>C (p.Cys197Arg)
|
rs779407804
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.603G>A (p.Pro201=)
|
rs372236399
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.609A>G (p.Ala203=)
|
rs774755322
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.645+16A>G
|
rs772265206
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.646-13C>T
|
rs773526046
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val)
|
rs767784704
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro)
|
rs924156969
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.816C>T (p.Ala272=)
|
rs764438635
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.817G>A (p.Gly273Ser)
|
rs199989846
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.823G>C (p.Asp275His)
|
rs1484874346
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.850C>G (p.Leu284Val)
|
rs1300393650
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.874C>T (p.Leu292=)
|
rs747733289
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.879C>T (p.Gly293=)
|
rs1047022550
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.978C>T (p.Gly326=)
|
rs199818224
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val)
|
rs1407619087
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.993C>T (p.Ile331=)
|
rs368704328
|
0.00001
|
|
NM_001129.5(AEBP1):c.1630+1G>A
|
rs369016031
|
0.00001
|
|
NM_001129.5(AEBP1):c.1925T>C (p.Leu642Pro)
|
rs753531562
|
0.00001
|
|
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter)
|
rs1443187318
|
0.00001
|
|
NM_001365276.2(TNXB):c.10499G>A (p.Arg3500His)
|
rs767560143
|
0.00001
|
|
NM_001365276.2(TNXB):c.10537T>A (p.Tyr3513Asn)
|
rs771230373
|
0.00001
|
|
NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg)
|
rs1186193202
|
0.00001
|
|
NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys)
|
rs1379154957
|
0.00001
|
|
NM_001365276.2(TNXB):c.10789C>T (p.Pro3597Ser)
|
rs764559504
|
0.00001
|
|
NM_001365276.2(TNXB):c.1336G>C (p.Glu446Gln)
|
rs536601819
|
0.00001
|
|
NM_001365276.2(TNXB):c.1424G>T (p.Arg475Leu)
|
rs1401291892
|
0.00001
|
|
NM_001365276.2(TNXB):c.144G>C (p.Val48=)
|
rs541266148
|
0.00001
|
|
NM_001365276.2(TNXB):c.1468C>A (p.Arg490=)
|
rs763709773
|
0.00001
|
|
NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys)
|
rs761561411
|
0.00001
|
|
NM_001365276.2(TNXB):c.180C>T (p.Tyr60=)
|
rs943965548
|
0.00001
|
|
NM_001365276.2(TNXB):c.2076C>T (p.Cys692=)
|
rs1340605654
|
0.00001
|
|
NM_001365276.2(TNXB):c.2106G>A (p.Gln702=)
|
rs758861786
|
0.00001
|
|
NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu)
|
rs768607753
|
0.00001
|
|
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)
|
rs751045102
|
0.00001
|
|
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg)
|
rs573740606
|
0.00001
|
|
NM_001365276.2(TNXB):c.3826T>C (p.Ser1276Pro)
|
rs879263799
|
0.00001
|
|
NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter)
|
rs201184519
|
0.00001
|
|
NM_001365276.2(TNXB):c.4996C>T (p.Arg1666Ter)
|
rs746016355
|
0.00001
|
|
NM_001365276.2(TNXB):c.5072G>A (p.Arg1691His)
|
rs1442622305
|
0.00001
|
|
NM_001365276.2(TNXB):c.5098C>G (p.Gln1700Glu)
|
rs200248536
|
0.00001
|
|
NM_001365276.2(TNXB):c.5619G>A (p.Thr1873=)
|
rs758183918
|
0.00001
|
|
NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser)
|
rs371794070
|
0.00001
|
|
NM_001365276.2(TNXB):c.6694G>A (p.Asp2232Asn)
|
rs571291130
|
0.00001
|
|
NM_001365276.2(TNXB):c.6749C>T (p.Ser2250Leu)
|
rs1778241867
|
0.00001
|
|
NM_001365276.2(TNXB):c.7045G>T (p.Val2349Leu)
|
rs774516957
|
0.00001
|
|
NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys)
|
rs374803743
|
0.00001
|
|
NM_001365276.2(TNXB):c.7819G>A (p.Val2607Ile)
|
rs757463918
|
0.00001
|
|
NM_001365276.2(TNXB):c.8101G>A (p.Gly2701Ser)
|
rs367754667
|
0.00001
|
|
NM_001365276.2(TNXB):c.8200C>G (p.Pro2734Ala)
|
rs200810612
|
0.00001
|
|
NM_001365276.2(TNXB):c.8389G>T (p.Gly2797Trp)
|
rs747680383
|
0.00001
|
|
NM_001365276.2(TNXB):c.9188T>G (p.Leu3063Arg)
|
rs554075676
|
0.00001
|
|
NM_001365276.2(TNXB):c.9271C>G (p.Leu3091Val)
|
rs748558173
|
0.00001
|
|
NM_001367624.2(ZNF469):c.*649C>G
|
rs561472955
|
0.00001
|
|
NM_001367624.2(ZNF469):c.*664C>T
|
rs886052423
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1015C>G (p.Gln339Glu)
|
rs1415972199
|
0.00001
|
|
NM_001367624.2(ZNF469):c.10333C>T (p.Arg3445Trp)
|
rs766994242
|
0.00001
|
|
NM_001367624.2(ZNF469):c.10459G>A (p.Gly3487Ser)
|
rs1337695234
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn)
|
rs568820656
|
0.00001
|
|
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter)
|
rs760186083
|
0.00001
|
|
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)
|
rs957402222
|
0.00001
|
|
NM_001367624.2(ZNF469):c.11526C>T (p.Asp3842=)
|
rs1213102834
|
0.00001
|
|
NM_001367624.2(ZNF469):c.11586C>G (p.Pro3862=)
|
rs750184195
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu)
|
rs1214168989
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala)
|
rs753160761
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met)
|
rs749374208
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)
|
rs1187845779
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln)
|
rs886052395
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2394G>A (p.Leu798=)
|
rs1172169587
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=)
|
rs767431034
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=)
|
rs886052398
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)
|
rs886052399
|
0.00001
|
|
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=)
|
rs756703220
|
0.00001
|
|
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr)
|
rs903409672
|
0.00001
|
|
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu)
|
rs886052402
|
0.00001
|
|
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly)
|
rs886052389
|
0.00001
|
|
NM_001367624.2(ZNF469):c.4885C>T (p.Arg1629Cys)
|
rs887420180
|
0.00001
|
|
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile)
|
rs768667107
|
0.00001
|
|
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln)
|
rs571207087
|
0.00001
|
|
NM_001367624.2(ZNF469):c.608C>T (p.Pro203Leu)
|
rs1189536062
|
0.00001
|
|
NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys)
|
rs273585622
|
0.00001
|
|
NM_001367624.2(ZNF469):c.6413C>T (p.Ser2138Leu)
|
rs530318278
|
0.00001
|
|
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=)
|
rs370190101
|
0.00001
|
|
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro)
|
rs78213929
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg)
|
rs886052408
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys)
|
rs886052409
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7627C>T (p.Arg2543Trp)
|
rs747677679
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr)
|
rs886052410
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7900A>G (p.Lys2634Glu)
|
rs998144294
|
0.00001
|
|
NM_001367624.2(ZNF469):c.796G>A (p.Gly266Ser)
|
rs1874240607
|
0.00001
|
|
NM_001367624.2(ZNF469):c.8678C>T (p.Pro2893Leu)
|
rs529013712
|
0.00001
|
|
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=)
|
rs766581620
|
0.00001
|
|
NM_001367624.2(ZNF469):c.8938G>A (p.Glu2980Lys)
|
rs746790100
|
0.00001
|
|
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
|
rs273585626
|
0.00001
|
|
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=)
|
rs886052416
|
0.00001
|
|
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp)
|
rs886052417
|
0.00001
|
|
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)
|
rs1292941352
|
0.00001
|
|
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)
|
rs887755283
|
0.00001
|
|
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe)
|
rs782329906
|
0.00001
|
|
NM_001734.5(C1S):c.514G>A (p.Gly172Arg)
|
rs375308014
|
0.00001
|
|
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)
|
rs762514246
|
0.00001
|
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
|
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
|
rs1295335940
|
0.00001
|
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
|
NM_003238.6(TGFB2):c.501G>A (p.Glu167=)
|
rs550789732
|
0.00001
|
|
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser)
|
rs375542964
|
0.00001
|
|
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu)
|
rs747183950
|
0.00001
|
|
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=)
|
rs578252411
|
0.00001
|
|
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile)
|
rs780955667
|
0.00001
|
|
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=)
|
rs371748094
|
0.00001
|
|
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val)
|
rs780247302
|
0.00001
|
|
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys)
|
rs1769480073
|
0.00001
|
|
NM_004370.6(COL12A1):c.1083G>A (p.Val361=)
|
rs373691118
|
0.00001
|
|
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile)
|
rs922525519
|
0.00001
|
|
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg)
|
rs1210901422
|
0.00001
|
|
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro)
|
rs779083996
|
0.00001
|
|
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala)
|
rs200828190
|
0.00001
|
|
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala)
|
rs1310849098
|
0.00001
|
|
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)
|
rs370952607
|
0.00001
|
|
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys)
|
rs970722197
|
0.00001
|
|
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=)
|
rs751787368
|
0.00001
|
|
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn)
|
rs369309158
|
0.00001
|
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
|
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)
|
rs377285294
|
0.00001
|
|
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=)
|
rs1769468260
|
0.00001
|
|
NM_004370.6(COL12A1):c.1289-3C>T
|
rs375570066
|
0.00001
|
|
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser)
|
rs771816024
|
0.00001
|
|
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp)
|
rs759184281
|
0.00001
|
|
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn)
|
rs563331592
|
0.00001
|
|
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=)
|
rs1004269418
|
0.00001
|
|
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=)
|
rs192004528
|
0.00001
|
|
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile)
|
rs368199250
|
0.00001
|
|
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=)
|
rs1242358815
|
0.00001
|
|
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu)
|
rs770461984
|
0.00001
|
|
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His)
|
rs762385473
|
0.00001
|
|
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly)
|
rs1445434863
|
0.00001
|
|
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=)
|
rs769824937
|
0.00001
|
|
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)
|
rs371505180
|
0.00001
|
|
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln)
|
rs768545712
|
0.00001
|
|
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala)
|
rs753897086
|
0.00001
|
|
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr)
|
rs1292052246
|
0.00001
|
|
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=)
|
rs748722008
|
0.00001
|
|
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn)
|
rs1169546055
|
0.00001
|
|
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys)
|
rs1440470491
|
0.00001
|
|
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val)
|
rs538463802
|
0.00001
|
|
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)
|
rs775466928
|
0.00001
|
|
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile)
|
rs758637945
|
0.00001
|
|
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=)
|
rs1769411353
|
0.00001
|
|
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg)
|
rs752633980
|
0.00001
|
|
NM_004370.6(COL12A1):c.177G>A (p.Val59=)
|
rs772158281
|
0.00001
|
|
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=)
|
rs552726593
|
0.00001
|
|
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn)
|
rs370544100
|
0.00001
|
|
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln)
|
rs1478514196
|
0.00001
|
|
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro)
|
rs1202194413
|
0.00001
|
|
NM_004370.6(COL12A1):c.18C>T (p.Pro6=)
|
rs1427431369
|
0.00001
|
|
NM_004370.6(COL12A1):c.191-12T>C
|
rs772991479
|
0.00001
|
|
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe)
|
rs1031869609
|
0.00001
|
|
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys)
|
rs760872362
|
0.00001
|
|
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser)
|
rs1436987187
|
0.00001
|
|
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met)
|
rs749609293
|
0.00001
|
|
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=)
|
rs779972390
|
0.00001
|
|
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala)
|
rs758201181
|
0.00001
|
|
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe)
|
rs756368336
|
0.00001
|
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
|
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=)
|
rs759595683
|
0.00001
|
|
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile)
|
rs1318884120
|
0.00001
|
|
NM_004370.6(COL12A1):c.2164+18C>A
|
rs183023584
|
0.00001
|
|
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln)
|
rs775023310
|
0.00001
|
|
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=)
|
rs770644269
|
0.00001
|
|
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn)
|
rs1198986280
|
0.00001
|
|
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=)
|
rs370677855
|
0.00001
|
|
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu)
|
rs770965835
|
0.00001
|
|
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys)
|
rs1341266694
|
0.00001
|
|
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=)
|
rs1582185053
|
0.00001
|
|
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp)
|
rs931765391
|
0.00001
|
|
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=)
|
rs752359605
|
0.00001
|
|
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
|
rs772979149
|
0.00001
|
|
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val)
|
rs769631929
|
0.00001
|
|
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala)
|
rs941358850
|
0.00001
|
|
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met)
|
rs1369556861
|
0.00001
|
|
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=)
|
rs781557444
|
0.00001
|
|
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)
|
rs770970810
|
0.00001
|
|
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu)
|
rs368537733
|
0.00001
|
|
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu)
|
rs375671490
|
0.00001
|
|
NM_004370.6(COL12A1):c.2577C>T (p.Val859=)
|
rs902436577
|
0.00001
|
|
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met)
|
rs780466316
|
0.00001
|
|
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu)
|
rs539562135
|
0.00001
|
|
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter)
|
rs765303183
|
0.00001
|
|
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr)
|
rs568432319
|
0.00001
|
|
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly)
|
rs371518967
|
0.00001
|
|
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=)
|
rs756052823
|
0.00001
|
|
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr)
|
rs1415214085
|
0.00001
|
|
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=)
|
rs1420771479
|
0.00001
|
|
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val)
|
rs774904567
|
0.00001
|
|
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His)
|
rs1768261055
|
0.00001
|
|
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=)
|
rs780559642
|
0.00001
|
|
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=)
|
rs760141819
|
0.00001
|
|
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=)
|
rs777357134
|
0.00001
|
|
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His)
|
rs370188326
|
0.00001
|
|
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His)
|
rs1477957297
|
0.00001
|
|
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser)
|
rs944768236
|
0.00001
|
|
NM_004370.6(COL12A1):c.2983+5G>A
|
rs1064794720
|
0.00001
|
|
NM_004370.6(COL12A1):c.2984-3C>T
|
rs1394199507
|
0.00001
|
|
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=)
|
rs910433493
|
0.00001
|
|
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys)
|
rs774087407
|
0.00001
|
|
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys)
|
rs760621245
|
0.00001
|
|
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His)
|
rs752304678
|
0.00001
|
|
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala)
|
rs200490883
|
0.00001
|
|
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile)
|
rs1376226675
|
0.00001
|
|
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn)
|
rs778135297
|
0.00001
|
|
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val)
|
rs751589202
|
0.00001
|
|
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter)
|
rs1329022055
|
0.00001
|
|
NM_004370.6(COL12A1):c.334+8C>T
|
rs1359112911
|
0.00001
|
|
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala)
|
rs1767720355
|
0.00001
|
|
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys)
|
rs1337121359
|
0.00001
|
|
NM_004370.6(COL12A1):c.335-16T>C
|
rs1286151975
|
0.00001
|
|
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu)
|
rs1029379585
|
0.00001
|
|
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=)
|
rs1420617553
|
0.00001
|
|
NM_004370.6(COL12A1):c.3443+10A>T
|
rs1217280037
|
0.00001
|
|
NM_004370.6(COL12A1):c.3443+15C>T
|
rs762336310
|
0.00001
|
|
NM_004370.6(COL12A1):c.3444-8C>T
|
rs765303217
|
0.00001
|
|
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp)
|
rs749832842
|
0.00001
|
|
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val)
|
rs770692332
|
0.00001
|
|
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)
|
rs201542066
|
0.00001
|
|
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu)
|
rs753747530
|
0.00001
|
|
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn)
|
rs1003693918
|
0.00001
|
|
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn)
|
rs370641424
|
0.00001
|
|
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu)
|
rs990441297
|
0.00001
|
|
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr)
|
rs752018748
|
0.00001
|
|
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)
|
rs746929943
|
0.00001
|
|
NM_004370.6(COL12A1):c.363G>A (p.Val121=)
|
rs559388395
|
0.00001
|
|
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)
|
rs748277540
|
0.00001
|
|
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met)
|
rs1305647848
|
0.00001
|
|
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=)
|
rs374534617
|
0.00001
|
|
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=)
|
rs1210652893
|
0.00001
|
|
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=)
|
rs770806561
|
0.00001
|
|
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=)
|
rs370675782
|
0.00001
|
|
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)
|
rs751811370
|
0.00001
|
|
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)
|
rs764448554
|
0.00001
|
|
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys)
|
rs1194355123
|
0.00001
|
|
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)
|
rs1304140510
|
0.00001
|
|
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg)
|
rs1179021269
|
0.00001
|
|
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=)
|
rs531318332
|
0.00001
|
|
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val)
|
rs759722280
|
0.00001
|
|
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val)
|
rs371419803
|
0.00001
|
|
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser)
|
rs1187079906
|
0.00001
|
|
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe)
|
rs1346687171
|
0.00001
|
|
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=)
|
rs751690563
|
0.00001
|
|
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe)
|
rs377551270
|
0.00001
|
|
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly)
|
rs1295465247
|
0.00001
|
|
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=)
|
rs771642899
|
0.00001
|
|
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=)
|
rs1171598389
|
0.00001
|
|
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp)
|
rs1183950908
|
0.00001
|
|
NM_004370.6(COL12A1):c.417T>A (p.Thr139=)
|
rs777652114
|
0.00001
|
|
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile)
|
rs772461470
|
0.00001
|
|
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val)
|
rs1056626609
|
0.00001
|
|
NM_004370.6(COL12A1):c.4288-6C>T
|
rs768371908
|
0.00001
|
|
NM_004370.6(COL12A1):c.42G>A (p.Ala14=)
|
rs758961396
|
0.00001
|
|
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=)
|
rs749367997
|
0.00001
|
|
NM_004370.6(COL12A1):c.432C>T (p.Leu144=)
|
rs528524927
|
0.00001
|
|
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=)
|
rs749957138
|
0.00001
|
|
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=)
|
rs761741355
|
0.00001
|
|
NM_004370.6(COL12A1):c.4417+15_4417+19del
|
rs768514093
|
0.00001
|
|
NM_004370.6(COL12A1):c.4418-1G>A
|
rs984784417
|
0.00001
|
|
NM_004370.6(COL12A1):c.441C>T (p.Gly147=)
|
rs370007721
|
0.00001
|
|
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)
|
rs750010185
|
0.00001
|
|
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=)
|
rs372904002
|
0.00001
|
|
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=)
|
rs1554182178
|
0.00001
|
|
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val)
|
rs1353013260
|
0.00001
|
|
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser)
|
rs1220345277
|
0.00001
|
|
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=)
|
rs1267756642
|
0.00001
|
|
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val)
|
rs1267769116
|
0.00001
|
|
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu)
|
rs763614780
|
0.00001
|
|
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile)
|
rs767232468
|
0.00001
|
|
NM_004370.6(COL12A1):c.4560+10G>C
|
rs372490462
|
0.00001
|
|
NM_004370.6(COL12A1):c.4561-15C>T
|
rs777154641
|
0.00001
|
|
NM_004370.6(COL12A1):c.4561-4G>A
|
rs148650016
|
0.00001
|
|
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile)
|
rs771220392
|
0.00001
|
|
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)
|
rs76453279
|
0.00001
|
|
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu)
|
rs74383804
|
0.00001
|
|
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser)
|
rs1044813586
|
0.00001
|
|
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn)
|
rs780006734
|
0.00001
|
|
NM_004370.6(COL12A1):c.4690+7T>C
|
rs1364868781
|
0.00001
|
|
NM_004370.6(COL12A1):c.4690+8A>T
|
rs760044445
|
0.00001
|
|
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=)
|
rs1429126907
|
0.00001
|
|
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu)
|
rs1246397590
|
0.00001
|
|
NM_004370.6(COL12A1):c.4737C>T (p.His1579=)
|
rs765450196
|
0.00001
|
|
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln)
|
rs775117257
|
0.00001
|
|
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=)
|
rs1464793469
|
0.00001
|
|
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=)
|
rs749072028
|
0.00001
|
|
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val)
|
rs1172593477
|
0.00001
|
|
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln)
|
rs781463654
|
0.00001
|
|
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=)
|
rs1025841228
|
0.00001
|
|
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu)
|
rs751657895
|
0.00001
|
|
NM_004370.6(COL12A1):c.4827+16T>C
|
rs535965773
|
0.00001
|
|
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu)
|
rs754277446
|
0.00001
|
|
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=)
|
rs767188736
|
0.00001
|
|
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=)
|
rs1219807352
|
0.00001
|
|
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=)
|
rs762832336
|
0.00001
|
|
NM_004370.6(COL12A1):c.4957+10G>C
|
rs1172874533
|
0.00001
|
|
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn)
|
rs754587593
|
0.00001
|
|
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=)
|
rs1301829570
|
0.00001
|
|
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=)
|
rs757968333
|
0.00001
|
|
NM_004370.6(COL12A1):c.5098-14C>T
|
rs370402417
|
0.00001
|
|
NM_004370.6(COL12A1):c.5098-5C>T
|
rs766762283
|
0.00001
|
|
NM_004370.6(COL12A1):c.511G>C (p.Asp171His)
|
rs748076280
|
0.00001
|
|
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)
|
rs778415707
|
0.00001
|
|
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr)
|
rs780886772
|
0.00001
|
|
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile)
|
rs370108747
|
0.00001
|
|
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=)
|
rs767349975
|
0.00001
|
|
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser)
|
rs1329724602
|
0.00001
|
|
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)
|
rs763294691
|
0.00001
|
|
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg)
|
rs377226722
|
0.00001
|
|
NM_004370.6(COL12A1):c.5230+1G>A
|
rs1274606112
|
0.00001
|
|
NM_004370.6(COL12A1):c.5251+4A>G
|
rs781348212
|
0.00001
|
|
NM_004370.6(COL12A1):c.5252-12A>C
|
rs747721408
|
0.00001
|
|
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys)
|
rs374747725
|
0.00001
|
|
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile)
|
rs201205563
|
0.00001
|
|
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys)
|
rs760210784
|
0.00001
|
|
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys)
|
rs368526865
|
0.00001
|
|
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=)
|
rs1372127467
|
0.00001
|
|
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=)
|
rs1422128161
|
0.00001
|
|
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=)
|
rs750914354
|
0.00001
|
|
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg)
|
rs558214604
|
0.00001
|
|
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala)
|
rs1461567926
|
0.00001
|
|
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr)
|
rs1464239210
|
0.00001
|
|
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)
|
rs757825778
|
0.00001
|
|
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser)
|
rs749681990
|
0.00001
|
|
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr)
|
rs1479368774
|
0.00001
|
|
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg)
|
rs371970739
|
0.00001
|
|
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)
|
rs750426294
|
0.00001
|
|
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile)
|
rs1239883407
|
0.00001
|
|
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly)
|
rs1370422060
|
0.00001
|
|
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys)
|
rs773807635
|
0.00001
|
|
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His)
|
rs1766439644
|
0.00001
|
|
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val)
|
rs1416074718
|
0.00001
|
|
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala)
|
rs767796362
|
0.00001
|
|
NM_004370.6(COL12A1):c.5664+14G>T
|
rs371510068
|
0.00001
|
|
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=)
|
rs200130428
|
0.00001
|
|
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn)
|
rs759905934
|
0.00001
|
|
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=)
|
rs369481796
|
0.00001
|
|
NM_004370.6(COL12A1):c.5795-14C>T
|
rs1178311224
|
0.00001
|
|
NM_004370.6(COL12A1):c.5795-5C>T
|
rs768037406
|
0.00001
|
|
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr)
|
rs1162295476
|
0.00001
|
|
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=)
|
rs534462036
|
0.00001
|
|
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg)
|
rs755452261
|
0.00001
|
|
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu)
|
rs1179773170
|
0.00001
|
|
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=)
|
rs374671225
|
0.00001
|
|
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His)
|
rs1769820873
|
0.00001
|
|
NM_004370.6(COL12A1):c.5938-7C>T
|
rs1343757913
|
0.00001
|
|
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met)
|
rs376487916
|
0.00001
|
|
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)
|
rs768824483
|
0.00001
|
|
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp)
|
rs199501842
|
0.00001
|
|
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln)
|
rs748657616
|
0.00001
|
|
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu)
|
rs752189896
|
0.00001
|
|
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=)
|
rs762626921
|
0.00001
|
|
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)
|
rs181357263
|
0.00001
|
|
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro)
|
rs1023244422
|
0.00001
|
|
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu)
|
rs776981761
|
0.00001
|
|
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu)
|
rs780058273
|
0.00001
|
|
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu)
|
rs1488658209
|
0.00001
|
|
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=)
|
rs764896298
|
0.00001
|
|
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=)
|
rs1248355913
|
0.00001
|
|
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser)
|
rs202186932
|
0.00001
|
|
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)
|
rs947116571
|
0.00001
|
|
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu)
|
rs373325814
|
0.00001
|
|
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile)
|
rs1385786827
|
0.00001
|
|
NM_004370.6(COL12A1):c.6211-4A>G
|
rs762268779
|
0.00001
|
|
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala)
|
rs1390899930
|
0.00001
|
|
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln)
|
rs1769819268
|
0.00001
|
|
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp)
|
rs1366474005
|
0.00001
|
|
NM_004370.6(COL12A1):c.6340+12G>A
|
rs749187959
|
0.00001
|
|
NM_004370.6(COL12A1):c.6340+19C>T
|
rs1244591730
|
0.00001
|
|
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu)
|
rs1366573056
|
0.00001
|
|
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val)
|
rs1339963289
|
0.00001
|
|
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe)
|
rs772205982
|
0.00001
|
|
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu)
|
rs186836845
|
0.00001
|
|
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu)
|
rs1467078008
|
0.00001
|
|
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=)
|
rs372703375
|
0.00001
|
|
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys)
|
rs776701367
|
0.00001
|
|
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=)
|
rs763927693
|
0.00001
|
|
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=)
|
rs1458129254
|
0.00001
|
|
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His)
|
rs374545461
|
0.00001
|
|
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro)
|
rs1298620930
|
0.00001
|
|
NM_004370.6(COL12A1):c.6724+13A>G
|
rs757071502
|
0.00001
|
|
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=)
|
rs1420789055
|
0.00001
|
|
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=)
|
rs781120781
|
0.00001
|
|
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile)
|
rs1158867383
|
0.00001
|
|
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=)
|
rs754181144
|
0.00001
|
|
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu)
|
rs775646975
|
0.00001
|
|
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met)
|
rs1434449708
|
0.00001
|
|
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=)
|
rs1189256592
|
0.00001
|
|
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu)
|
rs1302398240
|
0.00001
|
|
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln)
|
rs374405599
|
0.00001
|
|
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)
|
rs772161963
|
0.00001
|
|
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser)
|
rs1474542485
|
0.00001
|
|
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)
|
rs745852751
|
0.00001
|
|
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys)
|
rs1233096096
|
0.00001
|
|
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=)
|
rs1227090004
|
0.00001
|
|
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val)
|
rs372896052
|
0.00001
|
|
NM_004370.6(COL12A1):c.7210+4T>G
|
rs201950823
|
0.00001
|
|
NM_004370.6(COL12A1):c.7210+9A>G
|
rs369099620
|
0.00001
|
|
NM_004370.6(COL12A1):c.7211-3T>C
|
rs766034760
|
0.00001
|
|
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=)
|
rs368333381
|
0.00001
|
|
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu)
|
rs755614789
|
0.00001
|
|
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=)
|
rs776372586
|
0.00001
|
|
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)
|
rs781647177
|
0.00001
|
|
NM_004370.6(COL12A1):c.74-19T>C
|
rs564822630
|
0.00001
|
|
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln)
|
rs747410893
|
0.00001
|
|
NM_004370.6(COL12A1):c.7437C>T (p.His2479=)
|
rs775670738
|
0.00001
|
|
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=)
|
rs745549241
|
0.00001
|
|
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=)
|
rs778626937
|
0.00001
|
|
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met)
|
rs572216195
|
0.00001
|
|
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=)
|
rs895079123
|
0.00001
|
|
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys)
|
rs372985511
|
0.00001
|
|
NM_004370.6(COL12A1):c.747G>A (p.Thr249=)
|
rs553802363
|
0.00001
|
|
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys)
|
rs777688811
|
0.00001
|
|
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=)
|
rs1157317368
|
0.00001
|
|
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala)
|
rs770874037
|
0.00001
|
|
NM_004370.6(COL12A1):c.75T>C (p.Val25=)
|
rs749054316
|
0.00001
|
|
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val)
|
rs761234963
|
0.00001
|
|
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)
|
rs780133855
|
0.00001
|
|
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu)
|
rs775522044
|
0.00001
|
|
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg)
|
rs770613686
|
0.00001
|
|
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=)
|
rs748445921
|
0.00001
|
|
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val)
|
rs781269301
|
0.00001
|
|
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)
|
rs1263587165
|
0.00001
|
|
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)
|
rs200751269
|
0.00001
|
|
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
|
rs994920789
|
0.00001
|
|
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr)
|
rs767580803
|
0.00001
|
|
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=)
|
rs747657598
|
0.00001
|
|
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys)
|
rs1384761865
|
0.00001
|
|
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile)
|
rs775684324
|
0.00001
|
|
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val)
|
rs199660424
|
0.00001
|
|
NM_004370.6(COL12A1):c.7950+9A>G
|
rs778327157
|
0.00001
|
|
NM_004370.6(COL12A1):c.801T>C (p.Val267=)
|
rs781375448
|
0.00001
|
|
NM_004370.6(COL12A1):c.804A>G (p.Gly268=)
|
rs754993343
|
0.00001
|
|
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe)
|
rs1391973492
|
0.00001
|
|
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=)
|
rs367966608
|
0.00001
|
|
NM_004370.6(COL12A1):c.8100+14T>A
|
rs750417570
|
0.00001
|
|
NM_004370.6(COL12A1):c.8101-16T>C
|
rs757858823
|
0.00001
|
|
NM_004370.6(COL12A1):c.810A>G (p.Glu270=)
|
rs1326391180
|
0.00001
|
|
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)
|
rs749287325
|
0.00001
|
|
NM_004370.6(COL12A1):c.8266-10T>C
|
rs377345950
|
0.00001
|
|
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=)
|
rs780813814
|
0.00001
|
|
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly)
|
rs1011310040
|
0.00001
|
|
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=)
|
rs767957084
|
0.00001
|
|
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu)
|
rs755342579
|
0.00001
|
|
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=)
|
rs553998601
|
0.00001
|
|
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly)
|
rs368105517
|
0.00001
|
|
NM_004370.6(COL12A1):c.8470-3C>A
|
rs1169467662
|
0.00001
|
|
NM_004370.6(COL12A1):c.8470-5T>G
|
rs776830409
|
0.00001
|
|
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser)
|
rs376931672
|
0.00001
|
|
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)
|
rs779184954
|
0.00001
|
|
NM_004370.6(COL12A1):c.8523+8T>C
|
rs752217139
|
0.00001
|
|
NM_004370.6(COL12A1):c.8524-3T>C
|
rs755782718
|
0.00001
|
|
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=)
|
rs202239067
|
0.00001
|
|
NM_004370.6(COL12A1):c.8577+14G>A
|
rs775776703
|
0.00001
|
|
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala)
|
rs758378155
|
0.00001
|
|
NM_004370.6(COL12A1):c.8649+7G>A
|
rs1274498192
|
0.00001
|
|
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys)
|
rs1381259753
|
0.00001
|
|
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr)
|
rs1427337137
|
0.00001
|
|
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=)
|
rs376238729
|
0.00001
|
|
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val)
|
rs769818518
|
0.00001
|
|
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)
|
rs778941390
|
0.00001
|
|
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser)
|
rs201760746
|
0.00001
|
|
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile)
|
rs1273649550
|
0.00001
|
|
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala)
|
rs761885492
|
0.00001
|
|
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser)
|
rs1216270127
|
0.00001
|
|
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu)
|
rs771010070
|
0.00001
|
|
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His)
|
rs748714098
|
0.00001
|
|
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln)
|
rs778638053
|
0.00001
|
|
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu)
|
rs751306147
|
0.00001
|
|
NM_004370.6(COL12A1):c.912A>G (p.Ala304=)
|
rs767135101
|
0.00001
|
|
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr)
|
rs774136306
|
0.00001
|
|
NM_004370.6(COL12A1):c.979T>C (p.Leu327=)
|
rs768698427
|
0.00001
|
|
NM_004370.6(COL12A1):c.997+6T>C
|
rs377225744
|
0.00001
|
|
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile)
|
rs1426761655
|
0.00001
|
|
NM_005902.4(SMAD3):c.-10C>T
|
rs777303695
|
0.00001
|
|
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn)
|
rs1555405116
|
0.00001
|
|
NM_005902.4(SMAD3):c.303C>T (p.His101=)
|
rs762889441
|
0.00001
|
|
NM_005902.4(SMAD3):c.567A>C (p.Gly189=)
|
rs1313114326
|
0.00001
|
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
|
NM_007255.3(B4GALT7):c.100C>T (p.Leu34=)
|
rs753921062
|
0.00001
|
|
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro)
|
rs375845310
|
0.00001
|
|
NM_007255.3(B4GALT7):c.15G>A (p.Arg5=)
|
rs778740793
|
0.00001
|
|
NM_007255.3(B4GALT7):c.20A>G (p.Lys7Arg)
|
rs1370799068
|
0.00001
|
|
NM_007255.3(B4GALT7):c.288A>G (p.Ala96=)
|
rs748595740
|
0.00001
|
|
NM_007255.3(B4GALT7):c.311G>T (p.Arg104Leu)
|
rs140590638
|
0.00001
|
|
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln)
|
rs568792091
|
0.00001
|
|
NM_007255.3(B4GALT7):c.413+4G>C
|
rs761866281
|
0.00001
|
|
NM_007255.3(B4GALT7):c.413+6G>A
|
rs566517243
|
0.00001
|
|
NM_007255.3(B4GALT7):c.487G>A (p.Asp163Asn)
|
rs542850594
|
0.00001
|
|
NM_007255.3(B4GALT7):c.50+13G>T
|
rs746553066
|
0.00001
|
|
NM_007255.3(B4GALT7):c.50+20C>A
|
rs1259555733
|
0.00001
|
|
NM_007255.3(B4GALT7):c.50+9C>T
|
rs1180310359
|
0.00001
|
|
NM_007255.3(B4GALT7):c.51-12C>T
|
rs374904923
|
0.00001
|
|
NM_007255.3(B4GALT7):c.51-15C>A
|
rs750251768
|
0.00001
|
|
NM_007255.3(B4GALT7):c.601G>A (p.Gly201Ser)
|
rs935389752
|
0.00001
|
|
NM_007255.3(B4GALT7):c.614T>C (p.Leu205Pro)
|
rs771458628
|
0.00001
|
|
NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe)
|
rs774917613
|
0.00001
|
|
NM_007255.3(B4GALT7):c.639+5G>A
|
rs1421361359
|
0.00001
|
|
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)
|
rs753594601
|
0.00001
|
|
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser)
|
rs1468472910
|
0.00001
|
|
NM_007255.3(B4GALT7):c.685G>A (p.Asp229Asn)
|
rs753374573
|
0.00001
|
|
NM_007255.3(B4GALT7):c.702C>T (p.Arg234=)
|
rs1768086053
|
0.00001
|
|
NM_007255.3(B4GALT7):c.726T>A (p.Leu242=)
|
rs367964168
|
0.00001
|
|
NM_007255.3(B4GALT7):c.733C>T (p.Pro245Ser)
|
rs1429482924
|
0.00001
|
|
NM_007255.3(B4GALT7):c.757A>G (p.Lys253Glu)
|
rs767799114
|
0.00001
|
|
NM_007255.3(B4GALT7):c.767G>A (p.Arg256His)
|
rs764639019
|
0.00001
|
|
NM_007255.3(B4GALT7):c.811A>C (p.Ile271Leu)
|
rs143680535
|
0.00001
|
|
NM_007255.3(B4GALT7):c.813C>T (p.Ile271=)
|
rs570926723
|
0.00001
|
|
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter)
|
rs1481659687
|
0.00001
|
|
NM_007255.3(B4GALT7):c.875A>G (p.Tyr292Cys)
|
rs780922438
|
0.00001
|
|
NM_007255.3(B4GALT7):c.879T>C (p.His293=)
|
rs755949684
|
0.00001
|
|
NM_007255.3(B4GALT7):c.895G>A (p.Ala299Thr)
|
rs771646034
|
0.00001
|
|
NM_007255.3(B4GALT7):c.914C>A (p.Ala305Asp)
|
rs774322603
|
0.00001
|
|
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser)
|
rs775032838
|
0.00001
|
|
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys)
|
rs767730463
|
0.00001
|
|
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys)
|
rs746187739
|
0.00001
|
|
NM_013352.4(DSE):c.1278A>G (p.Ala426=)
|
rs1253141581
|
0.00001
|
|
NM_013352.4(DSE):c.1437C>T (p.Phe479=)
|
rs757356537
|
0.00001
|
|
NM_013352.4(DSE):c.1491C>T (p.Pro497=)
|
rs768130032
|
0.00001
|
|
NM_013352.4(DSE):c.1512A>G (p.Glu504=)
|
rs200018749
|
0.00001
|
|
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe)
|
rs1213902929
|
0.00001
|
|
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu)
|
rs762084403
|
0.00001
|
|
NM_013352.4(DSE):c.17G>A (p.Arg6Gln)
|
rs758271302
|
0.00001
|
|
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp)
|
rs763787753
|
0.00001
|
|
NM_013352.4(DSE):c.2054T>C (p.Val685Ala)
|
rs749911499
|
0.00001
|
|
NM_013352.4(DSE):c.2147G>A (p.Arg716His)
|
rs549153887
|
0.00001
|
|
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn)
|
rs779169990
|
0.00001
|
|
NM_013352.4(DSE):c.2221A>G (p.Ile741Val)
|
rs780336360
|
0.00001
|
|
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys)
|
rs752624508
|
0.00001
|
|
NM_013352.4(DSE):c.2334G>T (p.Leu778=)
|
rs534248134
|
0.00001
|
|
NM_013352.4(DSE):c.2386A>G (p.Ile796Val)
|
rs774012350
|
0.00001
|
|
NM_013352.4(DSE):c.243C>T (p.Ser81=)
|
rs780478969
|
0.00001
|
|
NM_013352.4(DSE):c.2580A>G (p.Leu860=)
|
rs1361177296
|
0.00001
|
|
NM_013352.4(DSE):c.2724C>T (p.Asn908=)
|
rs750711471
|
0.00001
|
|
NM_013352.4(DSE):c.2766T>C (p.Tyr922=)
|
rs148311424
|
0.00001
|
|
NM_013352.4(DSE):c.404C>T (p.Ala135Val)
|
rs370430595
|
0.00001
|
|
NM_013352.4(DSE):c.416+13C>T
|
rs765373035
|
0.00001
|
|
NM_013352.4(DSE):c.495G>T (p.Leu165Phe)
|
rs1057524129
|
0.00001
|
|
NM_013352.4(DSE):c.670+12C>T
|
rs190922886
|
0.00001
|
|
NM_013352.4(DSE):c.75C>T (p.Thr25=)
|
rs752936676
|
0.00001
|
|
NM_013352.4(DSE):c.864G>A (p.Pro288=)
|
rs780424278
|
0.00001
|
|
NM_013352.4(DSE):c.885A>C (p.Ala295=)
|
rs1444681997
|
0.00001
|
|
NM_013352.4(DSE):c.911-15A>G
|
rs1232495093
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.*174G>A
|
rs1057408727
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.*1777T>C
|
rs1351159498
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.*1941C>T
|
rs886060485
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.*518G>T
|
rs1762600191
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.*615T>C
|
rs1762599095
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.-2C>A
|
rs1757919556
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1043T>A (p.Leu348His)
|
rs746625854
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1057G>A (p.Asp353Asn)
|
rs1264410712
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1068C>T (p.His356=)
|
rs372834434
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn)
|
rs763890617
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.109G>A (p.Ala37Thr)
|
rs1001487005
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1132+11C>T
|
rs367786616
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1132+5G>A
|
rs771663705
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1133-12G>A
|
rs765717511
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe)
|
rs1064796637
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1236C>T (p.His412=)
|
rs375556579
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1238+15G>T
|
rs756540143
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1239-4G>A
|
rs922294987
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1257C>T (p.Asp419=)
|
rs368720430
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1260G>A (p.Gly420=)
|
rs376231597
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser)
|
rs200813745
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1270C>T (p.Arg424Cys)
|
rs370919224
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=)
|
rs746088783
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1288C>T (p.Arg430Trp)
|
rs761498949
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1309C>A (p.Pro437Thr)
|
rs1763419968
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.132C>T (p.Asp44=)
|
rs1180118665
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1375T>C (p.Tyr459His)
|
rs1330093880
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1377C>T (p.Tyr459=)
|
rs933381749
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1383-5C>G
|
rs1447276433
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1398G>C (p.Leu466=)
|
rs200341951
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=)
|
rs751565994
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=)
|
rs758260638
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1420G>A (p.Asp474Asn)
|
rs750225306
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu)
|
rs762123346
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)
|
rs374288519
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.142G>C (p.Gly48Arg)
|
rs769371687
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1467C>T (p.Asn489=)
|
rs111893309
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1470G>A (p.Glu490=)
|
rs780547229
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1478G>A (p.Arg493His)
|
rs758348587
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=)
|
rs1182897591
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val)
|
rs757394676
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1516-9G>A
|
rs768309325
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1523C>A (p.Thr508Asn)
|
rs1174952034
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1527T>C (p.Phe509=)
|
rs770787111
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1565A>G (p.Asn522Ser)
|
rs1243941175
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1567C>T (p.Pro523Ser)
|
rs1198309600
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.157G>C (p.Gly53Arg)
|
rs1392499776
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1590G>A (p.Lys530=)
|
rs1403889639
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1596C>G (p.Pro532=)
|
rs766855796
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=)
|
rs368700721
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1689C>T (p.Ser563=)
|
rs376357664
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.168C>T (p.Arg56=)
|
rs1179722227
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys)
|
rs1212597027
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1741G>A (p.Val581Met)
|
rs778993977
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1785C>T (p.Asn595=)
|
rs749792014
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1819T>C (p.Phe607Leu)
|
rs1238183487
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1827C>T (p.Leu609=)
|
rs150448689
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1834C>T (p.Arg612Cys)
|
rs756757077
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1836C>T (p.Arg612=)
|
rs1763093760
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1847C>T (p.Pro616Leu)
|
rs1218050137
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=)
|
rs569510744
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys)
|
rs752401488
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1881C>T (p.Cys627=)
|
rs762965208
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1894C>T (p.Leu632=)
|
rs1763092530
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn)
|
rs376707472
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1930C>T (p.Leu644=)
|
rs1450097151
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1951+18G>A
|
rs1243999996
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1956G>A (p.Lys652=)
|
rs368354498
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1998G>A (p.Glu666=)
|
rs548886013
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2085+18G>A
|
rs555952324
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2101G>A (p.Gly701Ser)
|
rs755490840
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2191C>T (p.Arg731Trp)
|
rs997669873
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2209+9G>T
|
rs1017374804
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2226T>A (p.Phe742Leu)
|
rs768906337
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg)
|
rs779256197
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2266G>A (p.Val756Ile)
|
rs780757881
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2279G>C (p.Ser760Thr)
|
rs781493524
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.228G>T (p.Ser76=)
|
rs1162154516
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2290+15C>T
|
rs764259203
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2305G>C (p.Glu769Gln)
|
rs867147371
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2351G>T (p.Ser784Ile)
|
rs749754452
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2355C>T (p.Ser785=)
|
rs771411876
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2376C>T (p.Gly792=)
|
rs779908624
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2412G>A (p.Glu804=)
|
rs766422618
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2415G>A (p.Thr805=)
|
rs1376577676
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2430C>T (p.Gly810=)
|
rs762314815
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2436C>T (p.Leu812=)
|
rs1762929607
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2466G>A (p.Pro822=)
|
rs377085746
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp)
|
rs376995938
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2487A>C (p.Ser829=)
|
rs201592583
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2487A>T (p.Ser829=)
|
rs201592583
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2488C>T (p.Leu830=)
|
rs758515627
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2529C>T (p.Val843=)
|
rs754467396
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2558C>G (p.Ser853Cys)
|
rs1057521585
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2559T>C (p.Ser853=)
|
rs772792600
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2568C>T (p.Tyr856=)
|
rs769226679
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2594C>T (p.Pro865Leu)
|
rs372549560
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2617+9G>T
|
rs943437047
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln)
|
rs772028555
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2661C>T (p.His887=)
|
rs1425874397
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)
|
rs370747086
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2696C>T (p.Ser899Leu)
|
rs751948505
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2713C>T (p.Arg905Cys)
|
rs760156480
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr)
|
rs199617528
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=)
|
rs151261888
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=)
|
rs768036305
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2750+10C>T
|
rs1045751866
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2787C>G (p.Thr929=)
|
rs149424876
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2794C>T (p.Arg932Trp)
|
rs776975672
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=)
|
rs557019144
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2838A>G (p.Leu946=)
|
rs1762831173
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2841C>T (p.His947=)
|
rs779661341
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2859C>T (p.Ser953=)
|
rs1273919427
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2880T>C (p.Asn960=)
|
rs1350390171
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2883C>T (p.Asp961=)
|
rs370397254
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2902C>T (p.Arg968Trp)
|
rs1473580610
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys)
|
rs867846785
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2931T>C (p.Gly977=)
|
rs1435384175
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2938C>T (p.Arg980Ter)
|
rs1171795845
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2939G>A (p.Arg980Gln)
|
rs1441303816
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2946G>T (p.Gly982=)
|
rs771598781
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2958+14C>T
|
rs755961602
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.295G>A (p.Gly99Arg)
|
rs553818378
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2979C>T (p.Asn993=)
|
rs747970179
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser)
|
rs142429109
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys)
|
rs373406403
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser)
|
rs1434954526
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3089-7C>A
|
rs760424301
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3089-9T>C
|
rs776485241
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3096C>T (p.Ile1032=)
|
rs1296847536
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn)
|
rs771197106
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3120C>T (p.Tyr1040=)
|
rs749365337
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=)
|
rs781264319
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3135G>A (p.Leu1045=)
|
rs753027177
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3138C>T (p.Ser1046=)
|
rs1164259596
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3144G>A (p.Pro1048=)
|
rs1036733329
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3150C>T (p.Pro1050=)
|
rs374907597
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn)
|
rs1252240288
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3156G>A (p.Ser1052=)
|
rs763966576
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3243C>T (p.Ser1081=)
|
rs1294398330
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3258C>G (p.Asn1086Lys)
|
rs1762622678
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3262C>T (p.Leu1088=)
|
rs960542347
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3267C>T (p.Cys1089=)
|
rs1172286327
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3318A>G (p.Ile1106Met)
|
rs773167287
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=)
|
rs769116395
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=)
|
rs777279065
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3369C>T (p.Leu1123=)
|
rs372364065
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3399G>T (p.Arg1133=)
|
rs775974436
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3414C>A (p.Thr1138=)
|
rs777522306
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3504T>C (p.His1168=)
|
rs1762617368
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3508C>A (p.Leu1170Met)
|
rs769503304
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter)
|
rs367553801
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile)
|
rs1278681689
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln)
|
rs772059202
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3609G>A (p.Arg1203=)
|
rs745724759
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg)
|
rs769813298
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.370C>T (p.Leu124=)
|
rs760256504
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr)
|
rs774483457
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.405C>T (p.Ala135=)
|
rs749177926
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met)
|
rs780603629
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup)
|
rs540605802
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.453G>A (p.Leu151=)
|
rs758831916
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.456C>G (p.Leu152=)
|
rs750739595
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.456C>T (p.Leu152=)
|
rs750739595
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.471C>T (p.Tyr157=)
|
rs752433735
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.48G>C (p.Leu16=)
|
rs1342781405
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.535-4G>A
|
rs765017540
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.563A>G (p.Glu188Gly)
|
rs772175576
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.597G>A (p.Ala199=)
|
rs758074163
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)
|
rs756807336
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=)
|
rs886060495
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.688+1G>A
|
rs1182409555
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.688+2T>C
|
rs1453785436
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.689-8C>A
|
rs992351765
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.708G>A (p.Leu236=)
|
rs781247753
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.708G>C (p.Leu236=)
|
rs781247753
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.717C>T (p.Leu239=)
|
rs1561805614
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.745C>T (p.His249Tyr)
|
rs1764735032
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.765G>T (p.Arg255=)
|
rs1764733920
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)
|
rs751895494
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.848G>A (p.Gly283Glu)
|
rs760325496
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.87G>A (p.Pro29=)
|
rs1300328320
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.894C>T (p.Val298=)
|
rs766163593
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.926C>T (p.Ala309Val)
|
rs1253197089
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.93G>A (p.Pro31=)
|
rs1326446417
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.975+9A>G
|
rs1581171879
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.990C>T (p.Ile330=)
|
rs543342610
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)
|
rs767485549
|
0.00001
|
|
NM_017946.4(FKBP14):c.103C>A (p.Pro35Thr)
|
rs143937777
|
0.00001
|
|
NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr)
|
rs750062960
|
0.00001
|
|
NM_017946.4(FKBP14):c.147G>C (p.Leu49Phe)
|
rs761481531
|
0.00001
|
|
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr)
|
rs769609634
|
0.00001
|
|
NM_017946.4(FKBP14):c.174G>A (p.Lys58=)
|
rs1242692107
|
0.00001
|
|
NM_017946.4(FKBP14):c.198-16T>A
|
rs1345590310
|
0.00001
|
|
NM_017946.4(FKBP14):c.198-3T>C
|
rs772253719
|
0.00001
|
|
NM_017946.4(FKBP14):c.218A>T (p.Gln73Leu)
|
rs780382667
|
0.00001
|
|
NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile)
|
rs758100842
|
0.00001
|
|
NM_017946.4(FKBP14):c.25G>A (p.Val9Ile)
|
rs1198123802
|
0.00001
|
|
NM_017946.4(FKBP14):c.30G>C (p.Leu10Phe)
|
rs1473185753
|
0.00001
|
|
NM_017946.4(FKBP14):c.333T>C (p.Tyr111=)
|
rs564024029
|
0.00001
|
|
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys)
|
rs1192635116
|
0.00001
|
|
NM_017946.4(FKBP14):c.349+10T>C
|
rs369590377
|
0.00001
|
|
NM_017946.4(FKBP14):c.386T>C (p.Ile129Thr)
|
rs201579172
|
0.00001
|
|
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr)
|
rs751708321
|
0.00001
|
|
NM_017946.4(FKBP14):c.468T>C (p.Ser156=)
|
rs1273014447
|
0.00001
|
|
NM_017946.4(FKBP14):c.477+1G>A
|
rs763168158
|
0.00001
|
|
NM_017946.4(FKBP14):c.478G>A (p.Val160Ile)
|
rs768353747
|
0.00001
|
|
NM_017946.4(FKBP14):c.486A>T (p.Ala162=)
|
rs370487182
|
0.00001
|
|
NM_017946.4(FKBP14):c.499G>A (p.Glu167Lys)
|
rs537455755
|
0.00001
|
|
NM_017946.4(FKBP14):c.512A>C (p.His171Pro)
|
rs147665999
|
0.00001
|
|
NM_017946.4(FKBP14):c.543T>A (p.Asp181Glu)
|
rs776599954
|
0.00001
|
|
NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly)
|
rs761086215
|
0.00001
|
|
NM_017946.4(FKBP14):c.595A>G (p.Ile199Val)
|
rs780572118
|
0.00001
|
|
NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln)
|
rs1281054139
|
0.00001
|
|
NM_017946.4(FKBP14):c.66C>A (p.Ile22=)
|
rs151294110
|
0.00001
|
|
NM_018699.3(PRDM5):c.-133T>C
|
rs886059046
|
0.00001
|
|
NM_018699.4(PRDM5):c.1108C>T (p.His370Tyr)
|
rs778780459
|
0.00001
|
|
NM_018699.4(PRDM5):c.1240C>T (p.Arg414Trp)
|
rs371659094
|
0.00001
|
|
NM_018699.4(PRDM5):c.125A>C (p.Lys42Thr)
|
rs1269597260
|
0.00001
|
|
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg)
|
rs371617787
|
0.00001
|
|
NM_018699.4(PRDM5):c.1609C>A (p.Arg537Ser)
|
rs1463793614
|
0.00001
|
|
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)
|
rs387907110
|
0.00001
|
|
NM_018699.4(PRDM5):c.465G>A (p.Ala155=)
|
rs1405110509
|
0.00001
|
|
NM_018699.4(PRDM5):c.650+7A>G
|
rs751182540
|
0.00001
|
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
|
NM_018699.4(PRDM5):c.93+10_93+12del
|
rs773523380
|
0.00001
|
|
NM_018699.4(PRDM5):c.974del (p.Cys325fs)
|
rs766853150
|
0.00001
|
|
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His)
|
rs1156566104
|
0.00001
|
|
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=)
|
rs1638537998
|
0.00001
|
|
NM_080605.4(B3GALT6):c.189G>A (p.Val63=)
|
rs1471843111
|
0.00001
|
|
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=)
|
rs1305896128
|
0.00001
|
|
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys)
|
rs924068844
|
0.00001
|
|
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=)
|
rs1457990186
|
0.00001
|
|
NM_080605.4(B3GALT6):c.353del (p.Asp118fs)
|
rs750088530
|
0.00001
|
|
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=)
|
rs767598361
|
0.00001
|
|
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=)
|
rs750669776
|
0.00001
|
|
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=)
|
rs1402832925
|
0.00001
|
|
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=)
|
rs1489962435
|
0.00001
|
|
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=)
|
rs1057524131
|
0.00001
|
|
NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly)
|
rs766519442
|
0.00001
|
|
NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys)
|
rs765337103
|
0.00001
|
|
NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser)
|
rs748952705
|
0.00001
|
|
NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys)
|
rs1260565985
|
0.00001
|
|
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys)
|
rs1314046622
|
0.00001
|
|
NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter)
|
rs760986725
|
0.00001
|
|
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=)
|
rs1256336773
|
0.00001
|
|
NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val)
|
rs1422897152
|
0.00001
|
|
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=)
|
rs1300221753
|
0.00001
|
|
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser)
|
rs760685441
|
0.00001
|
|
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=)
|
rs764901184
|
0.00001
|
|
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)
|
rs1557526653
|
0.00001
|
|
NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro)
|
rs777233616
|
0.00001
|
|
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)
|
rs397514717
|
0.00001
|
|
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=)
|
rs766274999
|
0.00001
|
|
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=)
|
rs764915085
|
0.00001
|
|
NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe)
|
rs1381077083
|
0.00001
|
|
NM_080605.4(B3GALT6):c.783C>T (p.Arg261=)
|
rs1031675737
|
0.00001
|
|
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)
|
rs374677519
|
0.00001
|
|
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe)
|
rs1638568014
|
0.00001
|
|
NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu)
|
rs1216124589
|
0.00001
|
|
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro)
|
rs1434211258
|
0.00001
|
|
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys)
|
rs1284101388
|
0.00001
|
|
NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys)
|
rs1250638849
|
0.00001
|
|
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=)
|
rs1441211766
|
0.00001
|
|
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=)
|
rs914725170
|
0.00001
|
|
NM_130468.4(CHST14):c.1010A>G (p.His337Arg)
|
rs772159874
|
0.00001
|
|
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr)
|
rs896003662
|
0.00001
|
|
NM_130468.4(CHST14):c.171del (p.Leu58fs)
|
rs1256212335
|
0.00001
|
|
NM_130468.4(CHST14):c.180C>T (p.Ile60=)
|
rs938393246
|
0.00001
|
|
NM_130468.4(CHST14):c.189C>T (p.Gly63=)
|
rs1398111943
|
0.00001
|
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
|
NM_130468.4(CHST14):c.217C>T (p.Leu73=)
|
rs1482604204
|
0.00001
|
|
NM_130468.4(CHST14):c.297C>T (p.Asp99=)
|
rs1328842726
|
0.00001
|
|
NM_130468.4(CHST14):c.318G>A (p.Gln106=)
|
rs1351996669
|
0.00001
|
|
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp)
|
rs201632751
|
0.00001
|
|
NM_130468.4(CHST14):c.378C>G (p.Pro126=)
|
rs752221539
|
0.00001
|
|
NM_130468.4(CHST14):c.401G>A (p.Arg134Gln)
|
rs1484119071
|
0.00001
|
|
NM_130468.4(CHST14):c.439T>C (p.Tyr147His)
|
rs775350610
|
0.00001
|
|
NM_130468.4(CHST14):c.45C>G (p.Ala15=)
|
rs1566969002
|
0.00001
|
|
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg)
|
rs1017593366
|
0.00001
|
|
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly)
|
rs1595869476
|
0.00001
|
|
NM_130468.4(CHST14):c.580C>T (p.Leu194=)
|
rs1310579126
|
0.00001
|
|
NM_130468.4(CHST14):c.582G>A (p.Leu194=)
|
rs1377861803
|
0.00001
|
|
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)
|
rs121908257
|
0.00001
|
|
NM_130468.4(CHST14):c.642G>A (p.Glu214=)
|
rs146662235
|
0.00001
|
|
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys)
|
rs370299419
|
0.00001
|
|
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp)
|
rs766320306
|
0.00001
|
|
NM_130468.4(CHST14):c.732G>C (p.Arg244=)
|
rs1208945086
|
0.00001
|
|
NM_130468.4(CHST14):c.801G>C (p.Leu267=)
|
rs998708059
|
0.00001
|
|
NM_130468.4(CHST14):c.822C>G (p.Arg274=)
|
rs111456654
|
0.00001
|
|
NM_130468.4(CHST14):c.843C>T (p.Pro281=)
|
rs778120798
|
0.00001
|
|
NM_130468.4(CHST14):c.871G>A (p.Val291Met)
|
rs369563820
|
0.00001
|
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
|
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu)
|
rs1389417786
|
0.00001
|
|
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp)
|
rs767533841
|
0.00001
|
|
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys)
|
rs373443856
|
0.00001
|
|
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter)
|
rs1555410784
|
0.00001
|
|
NM_130468.4(CHST14):c.978C>T (p.Ala326=)
|
rs576061822
|
0.00001
|
|
NM_130468.4(CHST14):c.99G>A (p.Gly33=)
|
rs545629118
|
0.00001
|
|
COL1A2, EX6DEL
|
|
|
|
COL3A1, GLY373ARG
|
|
|
|
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
|
|
|
|
NC_000001.10:g.(?_1146915)_(1168668_?)dup
|
|
|
|
NC_000001.10:g.(?_1167659)_(1168648_?)dup
|
|
|
|
NC_000001.10:g.(?_11847760)_(12066770_?)dup
|
|
|
|
NC_000001.10:g.(?_11994817)_(11994932_?)dup
|
|
|
|
NC_000001.10:g.(?_11994837)_(12034865_?)dup
|
|
|
|
NC_000001.10:g.(?_12008013)_(12008144_?)del
|
|
|
|
NC_000001.10:g.(?_12008013)_(12010597_?)del
|
|
|
|
NC_000001.10:g.(?_12014867)_(12014970_?)del
|
|
|
|
NC_000001.10:g.(?_12020683)_(12027168_?)dup
|
|
|
|
NC_000001.10:g.(?_12020693)_(12027158_?)dup
|
|
|
|
NC_000001.10:g.(?_12020703)_(12027148_?)dup
|
|
|
|
NC_000001.10:g.(?_12022996)_(12026348_?)del
|
|
|
|
NC_000001.10:g.(?_861322)_(3768971_?)del
|
|
|
|
NC_000001.10:g.(?_948954)_(1284445_?)dup
|
|
|
|
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
|
|
|
|
NC_000001.11:g.(?_1013554)_(1313808_?)del
|
|
|
|
NC_000001.11:g.(?_11934770)_(11934865_?)dup
|
|
|
|
NC_000001.11:g.(?_11949763)_(11952745_?)del
|
|
|
|
NC_000001.11:g.11963531GA[1]
|
|
|
|
NC_000002.11:g.(?_189839196)_(189839314_?)dup
|
|
|
|
NC_000002.11:g.(?_189839206)_(189950508_?)del
|
|
|
|
NC_000002.11:g.(?_189839216)_(189839314_?)del
|
|
|
|
NC_000002.11:g.(?_189839216)_(190044330_?)del
|
|
|
|
NC_000002.11:g.(?_189849903)_(189957166_?)dup
|
|
|
|
NC_000002.11:g.(?_189852801)_(189855789_?)dup
|
|
|
|
NC_000002.11:g.(?_189852807)_(189855783_?)dup
|
|
|
|
NC_000002.11:g.(?_189856193)_(189856974_?)del
|
|
|
|
NC_000002.11:g.(?_189860831)_(189861242_?)dup
|
|
|
|
NC_000002.11:g.(?_189860841)_(189861232_?)del
|
|
|
|
NC_000002.11:g.(?_189898796)_(189953518_?)dup
|
|
|
|
NC_000002.11:g.(?_189913190)_(189918176_?)del
|
|
|
|
NC_000002.12:g.(?_188974470)_(189580480_?)del
|
|
|
|
NC_000002.12:g.(?_188974480)_(189580648_?)del
|
|
|
|
NC_000002.12:g.(?_189078506)_(189081053_?)del
|
|
|
|
NC_000002.12:g.(?_189100087)_(189100159_?)del
|
|
|
|
NC_000005.10:g.(?_179113857)_(179345338_?)dup
|
|
|
|
NC_000005.10:g.(?_179121651)_(179122783_?)del
|
|
|
|
NC_000005.10:g.(?_179272901)_(179273074_?)del
|
|
|
|
NC_000005.10:g.(?_179343757)_(179345338_?)dup
|
|
|
|
NC_000005.9:g.(?_175158654)_(179263593_?)dup
|
|
|
|
NC_000005.9:g.(?_176047812)_(177422934_?)del
|
|
|
|
NC_000005.9:g.(?_177027212)_(177027281_?)del
|
|
|
|
NC_000005.9:g.(?_177031160)_(178414004_?)dup
|
|
|
|
NC_000005.9:g.(?_178408658)_(178541345_?)dup
|
|
|
|
NC_000005.9:g.(?_178408658)_(178585900_?)del
|
|
|
|
NC_000005.9:g.(?_178540868)_(178700085_?)dup
|
|
|
|
NC_000005.9:g.(?_178548652)_(178700075_?)dup
|
|
|
|
NC_000005.9:g.(?_178554950)_(178564955_?)dup
|
|
|
|
NC_000005.9:g.(?_178562901)_(178700075_?)dup
|
|
|
|
NC_000005.9:g.(?_178634504)_(178634726_?)del
|
|
|
|
NC_000005.9:g.(?_178699902)_(178772339_?)del
|
|
|
|
NC_000005.9:g.(?_178699902)_(179263603_?)dup
|
|
|
|
NC_000005.9:g.(?_178770748)_(178772329_?)dup
|
|
|
|
NC_000005.9:g.(?_178770748)_(178772349_?)dup
|
|
|
|
NC_000005.9:g.(?_178770758)_(178772339_?)del
|
|
|
|
NC_000006.11:g.(?_75796253)_(75855181_?)del
|
|
|
|
NC_000006.11:g.(?_75796253)_(75912518_?)del
|
|
|
|
NC_000006.11:g.(?_75796263)_(75813546_?)dup
|
|
|
|
NC_000006.11:g.(?_75806949)_(75807042_?)del
|
|
|
|
NC_000006.11:g.(?_75833026)_(75912508_?)del
|
|
|
|
NC_000006.11:g.(?_75833644)_(75847315_?)del
|
|
|
|
NC_000006.11:g.(?_75855798)_(75861023_?)del
|
|
|
|
NC_000006.11:g.(?_75858054)_(75912508_?)dup
|
|
|
|
NC_000006.12:g.(?_75086537)_(75202802_?)dup
|
|
|
|
NC_000007.13:g.(?_30049199)_(30067417_?)dup
|
|
|
|
NC_000007.13:g.(?_30054351)_(31018859_?)dup
|
|
|
|
NC_000007.13:g.(?_94024344)_(94059705_?)dup
|
|
|
|
NC_000007.13:g.(?_94027674)_(94027728_?)del
|
|
|
|
NC_000007.13:g.(?_94037139)_(94037712_?)dup
|
|
|
|
NC_000007.13:g.(?_94037139)_(94038155_?)dup
|
|
|
|
NC_000007.13:g.(?_94037531)_(94038117_?)del
|
|
|
|
NC_000007.13:g.(?_94040181)_(94059705_?)dup
|
|
|
|
NC_000007.13:g.94035075_94047591dup
|
|
|
|
NC_000007.14:g.(?_30010573)_(30014903_?)del
|
|
|
|
NC_000007.14:g.(?_94395012)_(94395818_?)del
|
|
|
|
NC_000007.14:g.(?_94395012)_(94399104_?)del
|
|
|
|
NC_000007.14:g.(?_94395022)_(94585525_?)dup
|
|
|
|
NC_000007.14:g.94425611del
|
|
|
|
NC_000009.11:g.(?_134379574)_(138678377_?)dup
|
|
|
|
NC_000009.11:g.(?_137533651)_(137534142_?)dup
|
|
|
|
NC_000009.11:g.(?_137534024)_(137620663_?)del
|
|
|
|
NC_000009.11:g.(?_137534028)_(137534148_?)dup
|
|
|
|
NC_000009.11:g.(?_137534034)_(137582945_?)del
|
|
|
|
NC_000009.11:g.(?_137534034)_(137630674_?)dup
|
|
|
|
NC_000009.11:g.(?_137534034)_(139440238_?)dup
|
|
|
|
NC_000009.11:g.(?_137582738)_(137593199_?)dup
|
|
|
|
NC_000009.11:g.(?_137582748)_(137677904_?)del
|
|
|
|
NC_000009.11:g.(?_137591735)_(137593199_?)del
|
|
|
|
NC_000009.11:g.(?_137593011)_(137727056_?)del
|
|
|
|
NC_000009.11:g.(?_137619102)_(137619253_?)del
|
|
|
|
NC_000009.11:g.(?_137619102)_(137698152_?)dup
|
|
|
|
NC_000009.11:g.(?_137623322)_(137623993_?)del
|
|
|
|
NC_000009.11:g.(?_137645560)_137650136del
|
|
|
|
NC_000009.11:g.(?_137664616)_(137734149_?)del
|
|
|
|
NC_000009.11:g.(?_137676815)_(137677914_?)del
|
|
|
|
NC_000009.11:g.(?_137703323)_(137734200_?)del
|
|
|
|
NC_000009.11:g.(?_137709604)_(137717770_?)del
|
|
|
|
NC_000009.11:g.(?_137721802)_(137734169_?)dup
|
|
|
|
NC_000009.11:g.(?_137733983)_(137734149_?)del
|
|
|
|
NC_000009.12:g.(?_134642178)_(134701343_?)del
|
|
|
|
NC_000009.12:g.(?_134642178)_(134768473_?)del
|
|
|
|
NC_000009.12:g.(?_134690892)_(134691099_?)del
|
|
|
|
NC_000009.12:g.(?_134690892)_(134763757_?)del
|
|
|
|
NC_000009.12:g.(?_134690902)_(134727407_?)del
|
|
|
|
NC_000009.12:g.(?_134699889)_(134700142_?)del
|
|
|
|
NC_000009.12:g.(?_134701171)_(134835204_?)del
|
|
|
|
NC_000009.12:g.(?_134727246)_(134728827_?)del
|
|
|
|
NC_000009.12:g.(?_134752569)_(134752665_?)del
|
|
|
|
NC_000009.12:g.(?_134782657)_(134842313_?)del
|
|
|
|
NC_000009.12:g.(?_134789143)_(134789218_?)dup
|
|
|
|
NC_000009.12:g.(?_134834951)_(134835224_?)del
|
|
|
|
NC_000009.12:g.(?_134842137)_(134842323_?)del
|
|
|
|
NC_000009.12:g.(?_134842147)_(134842313_?)del
|
|
|
|
NC_000009.12:g.134765683del
|
|
|
|
NC_000009.12:g.134824601del
|
rs1588597744
|
|
|
NC_000015.9:g.(?_40763403)_(40764553_?)dup
|
|
|
|
NC_000015.9:g.(?_40763413)_(40764543_?)dup
|
|
|
|
NG_023212.2:g.(6563_77264)_(169258_191449)del
|
|
|
|
NG_042181.1:(g.89607_91434)_(105703_107097)del
|
|
|
|
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)
|
rs2077718812
|
|
|
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)
|
rs1030215501
|
|
|
NM_000052.7(ATP7A):c.3584T>A (p.Ile1195Asn)
|
rs2149109593
|
|
|
NM_000088.4(COL1A1):c.*1007_*1008del
|
rs886053144
|
|
|
NM_000088.4(COL1A1):c.*1026TG[1]
|
rs878983048
|
|
|
NM_000088.4(COL1A1):c.*1026_*1028del
|
rs751268781
|
|
|
NM_000088.4(COL1A1):c.*1027G>T
|
rs200882287
|
|
|
NM_000088.4(COL1A1):c.*1027del
|
rs878912123
|
|
|
NM_000088.4(COL1A1):c.*1029_*1031del
|
rs886053143
|
|
|
NM_000088.4(COL1A1):c.*1030_*1031del
|
rs886053142
|
|
|
NM_000088.4(COL1A1):c.*1045del
|
rs886053141
|
|
|
NM_000088.4(COL1A1):c.*1316C>G
|
rs967567610
|
|
|
NM_000088.4(COL1A1):c.*1324A>G
|
rs886053140
|
|
|
NM_000088.4(COL1A1):c.*215del
|
rs886053157
|
|
|
NM_000088.4(COL1A1):c.*242_*244dup
|
rs56302025
|
|
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
|
NM_000088.4(COL1A1):c.*245_*246dup
|
rs886053155
|
|
|
NM_000088.4(COL1A1):c.*245del
|
rs886053156
|
|
|
NM_000088.4(COL1A1):c.*255dup
|
rs886053153
|
|
|
NM_000088.4(COL1A1):c.*257_*258dup
|
rs886053152
|
|
|
NM_000088.4(COL1A1):c.*258dup
|
rs886053152
|
|
|
NM_000088.4(COL1A1):c.*259_*260insAT
|
rs886053151
|
|
|
NM_000088.4(COL1A1):c.*356T>A
|
rs1906365029
|
|
|
NM_000088.4(COL1A1):c.*437A>C
|
rs886053150
|
|
|
NM_000088.4(COL1A1):c.*623G>A
|
rs886053149
|
|
|
NM_000088.4(COL1A1):c.*681_*682insAGCA
|
rs3840870
|
|
|
NM_000088.4(COL1A1):c.*73C>A
|
rs1906402899
|
|
|
NM_000088.4(COL1A1):c.*815A>G
|
rs886053146
|
|
|
NM_000088.4(COL1A1):c.*88T>A
|
rs1061237
|
|
|
NM_000088.4(COL1A1):c.*88T>C
|
rs1061237
|
|
|
NM_000088.4(COL1A1):c.*998_*999del
|
rs886053145
|
|
|
NM_000088.4(COL1A1):c.-78_-77delinsAA
|
rs886053163
|
|
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
|
NM_000088.4(COL1A1):c.-98G>C
|
rs574683904
|
|
|
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=)
|
rs774708577
|
|
|
NM_000088.4(COL1A1):c.1056+12dup
|
rs766175536
|
|
|
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)
|
rs2144576822
|
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
|
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.1296C>G (p.Asn432Lys)
|
rs2144575369
|
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
|
NM_000088.4(COL1A1):c.1354-8del
|
rs765450816
|
|
|
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)
|
rs751299130
|
|
|
NM_000088.4(COL1A1):c.1461+5G>A
|
|
|
|
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
|
rs762086114
|
|
|
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)
|
rs1351742344
|
|
|
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)
|
rs67507747
|
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
|
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly)
|
rs886053161
|
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
|
NM_000088.4(COL1A1):c.1984-6C>T
|
rs373873548
|
|
|
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)
|
rs563598815
|
|
|
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)
|
rs561374961
|
|
|
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)
|
rs759665341
|
|
|
NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu)
|
rs138749826
|
|
|
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
|
rs1423591325
|
|
|
NM_000088.4(COL1A1):c.2343+1G>A
|
rs1114167378
|
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
|
NM_000088.4(COL1A1):c.2560-5T>C
|
rs2144552369
|
|
|
NM_000088.4(COL1A1):c.2608C>T (p.Pro870Ser)
|
rs771918127
|
|
|
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)
|
rs72653147
|
|
|
NM_000088.4(COL1A1):c.2668-10C>G
|
rs1262974236
|
|
|
NM_000088.4(COL1A1):c.2760T>A (p.Gly920=)
|
rs2144550223
|
|
|
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser)
|
rs1434279534
|
|
|
NM_000088.4(COL1A1):c.288del (p.Asp97fs)
|
rs2144593759
|
|
|
NM_000088.4(COL1A1):c.3002del (p.Gly1001fs)
|
rs1598288593
|
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
|
NM_000088.4(COL1A1):c.3099+7T>G
|
rs201682029
|
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
|
NM_000088.4(COL1A1):c.3207+1G>A
|
rs1555572239
|
|
|
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)
|
|
|
|
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)
|
rs1555571916
|
|
|
NM_000088.4(COL1A1):c.3755G>C (p.Arg1252Pro)
|
rs371904584
|
|
|
NM_000088.4(COL1A1):c.3814+1G>A
|
|
|
|
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
|
rs761672800
|
|
|
NM_000088.4(COL1A1):c.4006-1G>A
|
|
|
|
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=)
|
rs886053160
|
|
|
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His)
|
rs886053159
|
|
|
NM_000088.4(COL1A1):c.472-1G>A
|
rs72667020
|
|
|
NM_000088.4(COL1A1):c.472-1G>T
|
rs72667020
|
|
|
NM_000088.4(COL1A1):c.472-2A>T
|
rs72667019
|
|
|
NM_000088.4(COL1A1):c.522A>C (p.Gly174=)
|
rs770454346
|
|
|
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)
|
rs72667022
|
|
|
NM_000088.4(COL1A1):c.562G>T (p.Gly188Cys)
|
|
|
|
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)
|
rs1114167408
|
|
|
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)
|
rs67828806
|
|
|
NM_000088.4(COL1A1):c.599G>T (p.Gly200Val)
|
rs72667029
|
|
|
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)
|
rs72667036
|
|
|
NM_000088.4(COL1A1):c.696+10C>G
|
rs1214116636
|
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
|
NM_000088.4(COL1A1):c.804+15A>C
|
rs148110802
|
|
|
NM_000088.4(COL1A1):c.839C>A (p.Ala280Asp)
|
rs1189053829
|
|
|
NM_000088.4(COL1A1):c.858+7G>A
|
rs1250228424
|
|
|
NM_000088.4(COL1A1):c.864G>T (p.Glu288Asp)
|
rs2144581372
|
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
|
NM_000088.4(COL1A1):c.957+15C>T
|
rs779096006
|
|
|
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)
|
rs1555574303
|
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
|
NM_000089.3(COL1A2):c.-150G>C
|
rs1584310114
|
|
|
NM_000089.3(COL1A2):c.-152G>A
|
rs769123288
|
|
|
NM_000089.3(COL1A2):c.-194C>T
|
rs1180929889
|
|
|
NM_000089.3(COL1A2):c.-204T>G
|
rs908653050
|
|
|
NM_000089.3(COL1A2):c.-264C>A
|
rs182924222
|
|
|
NM_000089.3(COL1A2):c.-365A>G
|
rs886062511
|
|
|
NM_000089.3(COL1A2):c.-397A>T
|
rs1791544304
|
|
|
NM_000089.3(COL1A2):c.-418G>A
|
rs939882798
|
|
|
NM_000089.4(COL1A2):c.*329A>G
|
rs1235561698
|
|
|
NM_000089.4(COL1A2):c.*469A>G
|
rs1792387263
|
|
|
NM_000089.4(COL1A2):c.*561T>C
|
rs1792389230
|
|
|
NM_000089.4(COL1A2):c.*618T>C
|
rs557107553
|
|
|
NM_000089.4(COL1A2):c.*638C>T
|
rs1792391514
|
|
|
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC
|
rs3917
|
|
|
NM_000089.4(COL1A2):c.-87C>T
|
rs886062513
|
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
|
NM_000089.4(COL1A2):c.1009G>T (p.Gly337Cys)
|
|
|
|
NM_000089.4(COL1A2):c.1010G>C (p.Gly337Ala)
|
rs2115894285
|
|
|
NM_000089.4(COL1A2):c.1010G>T (p.Gly337Val)
|
|
|
|
NM_000089.4(COL1A2):c.1017T>C (p.Thr339=)
|
rs1584319446
|
|
|
NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser)
|
rs67180473
|
|
|
NM_000089.4(COL1A2):c.1022_1033del (p.Ala341_Leu344del)
|
rs1584319451
|
|
|
NM_000089.4(COL1A2):c.1029A>G (p.Gly343=)
|
rs2115894389
|
|
|
NM_000089.4(COL1A2):c.1035+14A>T
|
|
|
|
NM_000089.4(COL1A2):c.1035+4A>T
|
|
|
|
NM_000089.4(COL1A2):c.1036-14G>T
|
rs114322680
|
|
|
NM_000089.4(COL1A2):c.1036-15T>C
|
|
|
|
NM_000089.4(COL1A2):c.1036-16C>T
|
|
|
|
NM_000089.4(COL1A2):c.1036-19G>C
|
|
|
|
NM_000089.4(COL1A2):c.1036-1G>T
|
|
|
|
NM_000089.4(COL1A2):c.1036-5C>A
|
|
|
|
NM_000089.4(COL1A2):c.1041G>A (p.Glu347=)
|
rs1584319702
|
|
|
NM_000089.4(COL1A2):c.1041G>T (p.Glu347Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser)
|
rs66773001
|
|
|
NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg)
|
rs66773001
|
|
|
NM_000089.4(COL1A2):c.1045G>T (p.Gly349Cys)
|
rs66773001
|
|
|
NM_000089.4(COL1A2):c.1050A>C (p.Pro350=)
|
rs1055249689
|
|
|
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)
|
rs1064796419
|
|
|
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)
|
|
|
|
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp)
|
rs1057518430
|
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
|
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)
|
|
|
|
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)
|
rs1791894410
|
|
|
NM_000089.4(COL1A2):c.1089+14T>C
|
rs1259284980
|
|
|
NM_000089.4(COL1A2):c.1089+16A>G
|
|
|
|
NM_000089.4(COL1A2):c.1089+1G>A
|
|
|
|
NM_000089.4(COL1A2):c.1089+8del
|
rs1791895030
|
|
|
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)
|
rs748961276
|
|
|
NM_000089.4(COL1A2):c.1090-10C>A
|
rs1454873351
|
|
|
NM_000089.4(COL1A2):c.1090-18G>T
|
|
|
|
NM_000089.4(COL1A2):c.1090-6A>G
|
rs2115896474
|
|
|
NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)
|
|
|
|
NM_000089.4(COL1A2):c.1101G>A (p.Gly367=)
|
rs1800237
|
|
|
NM_000089.4(COL1A2):c.1107A>G (p.Gln369=)
|
rs776853005
|
|
|
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)
|
rs72658104
|
|
|
NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)
|
|
|
|
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)
|
|
|
|
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)
|
rs67543427
|
|
|
NM_000089.4(COL1A2):c.1134A>G (p.Glu378=)
|
|
|
|
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)
|
rs121912912
|
|
|
NM_000089.4(COL1A2):c.1144G>A (p.Gly382Ser)
|
rs2115896730
|
|
|
NM_000089.4(COL1A2):c.1145G>T (p.Gly382Val)
|
|
|
|
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
|
rs1462108134
|
|
|
NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg)
|
|
|
|
NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu)
|
|
|
|
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
|
rs67707918
|
|
|
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)
|
rs67707918
|
|
|
NM_000089.4(COL1A2):c.1178C>A (p.Pro393Gln)
|
|
|
|
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser)
|
rs886062515
|
|
|
NM_000089.4(COL1A2):c.1188T>C (p.Pro396=)
|
|
|
|
NM_000089.4(COL1A2):c.1191G>A (p.Gly397=)
|
|
|
|
NM_000089.4(COL1A2):c.1197+19C>T
|
|
|
|
NM_000089.4(COL1A2):c.1197+5G>A
|
rs68132885
|
|
|
NM_000089.4(COL1A2):c.1197+5G>C
|
|
|
|
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)
|
rs1554396271
|
|
|
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)
|
|
|
|
NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser)
|
rs72658108
|
|
|
NM_000089.4(COL1A2):c.1228G>T (p.Ala410Ser)
|
rs1235071648
|
|
|
NM_000089.4(COL1A2):c.1240G>A (p.Ala414Thr)
|
|
|
|
NM_000089.4(COL1A2):c.1251+11T>C
|
|
|
|
NM_000089.4(COL1A2):c.1251+5G>C
|
|
|
|
NM_000089.4(COL1A2):c.1251+9T>C
|
|
|
|
NM_000089.4(COL1A2):c.1252-15T>C
|
rs2115898987
|
|
|
NM_000089.4(COL1A2):c.1252-19T>G
|
|
|
|
NM_000089.4(COL1A2):c.1252-20T>G
|
rs2115898936
|
|
|
NM_000089.4(COL1A2):c.1252-6G>T
|
|
|
|
NM_000089.4(COL1A2):c.1252-6del
|
rs886062516
|
|
|
NM_000089.4(COL1A2):c.1252-7del
|
rs35587403
|
|
|
NM_000089.4(COL1A2):c.1252-8_1252-7del
|
rs35587403
|
|
|
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
|
|
|
|
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)
|
rs72658112
|
|
|
NM_000089.4(COL1A2):c.1273G>A (p.Ala425Thr)
|
|
|
|
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)
|
|
|
|
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile)
|
rs376629202
|
|
|
NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)
|
rs1791913210
|
|
|
NM_000089.4(COL1A2):c.1296A>G (p.Arg432=)
|
|
|
|
NM_000089.4(COL1A2):c.132+14G>T
|
|
|
|
NM_000089.4(COL1A2):c.1324G>A (p.Gly442Arg)
|
rs1554396361
|
|
|
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=)
|
rs779173151
|
|
|
NM_000089.4(COL1A2):c.133-17C>T
|
|
|
|
NM_000089.4(COL1A2):c.133-19C>G
|
|
|
|
NM_000089.4(COL1A2):c.133-3C>A
|
rs1562897561
|
|
|
NM_000089.4(COL1A2):c.133-5A>G
|
|
|
|
NM_000089.4(COL1A2):c.1338C>T (p.Leu446=)
|
rs1213032761
|
|
|
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys)
|
rs1446399667
|
|
|
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)
|
rs1584320605
|
|
|
NM_000089.4(COL1A2):c.1350+13C>G
|
|
|
|
NM_000089.4(COL1A2):c.1351-16C>G
|
|
|
|
NM_000089.4(COL1A2):c.1351-16C>T
|
|
|
|
NM_000089.4(COL1A2):c.1351-17C>G
|
|
|
|
NM_000089.4(COL1A2):c.1351-17C>T
|
|
|
|
NM_000089.4(COL1A2):c.1351-9A>G
|
|
|
|
NM_000089.4(COL1A2):c.1371A>G (p.Gly457=)
|
rs2115902719
|
|
|
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr)
|
rs2115902728
|
|
|
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)
|
rs72658118
|
|
|
NM_000089.4(COL1A2):c.1383C>A (p.Pro461=)
|
|
|
|
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr)
|
rs562290953
|
|
|
NM_000089.4(COL1A2):c.1388G>C (p.Gly463Ala)
|
rs2115902837
|
|
|
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del)
|
rs1791941199
|
|
|
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln)
|
rs1562902082
|
|
|
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1404+1G>C
|
rs67162110
|
|
|
NM_000089.4(COL1A2):c.1405-10_1405-9del
|
rs778910090
|
|
|
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
|
|
|
|
NM_000089.4(COL1A2):c.1416C>T (p.Gly472=)
|
|
|
|
NM_000089.4(COL1A2):c.1418T>C (p.Ile473Thr)
|
|
|
|
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
|
|
|
|
NM_000089.4(COL1A2):c.1422C>G (p.Asp474Glu)
|
|
|
|
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)
|
rs755058199
|
|
|
NM_000089.4(COL1A2):c.1425C>T (p.Gly475=)
|
|
|
|
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
|
|
|
|
NM_000089.4(COL1A2):c.1430del (p.Pro477fs)
|
|
|
|
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)
|
|
|
|
NM_000089.4(COL1A2):c.1434C>A (p.Gly478=)
|
rs756412829
|
|
|
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu)
|
rs778238943
|
|
|
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)
|
|
|
|
NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg)
|
rs72658120
|
|
|
NM_000089.4(COL1A2):c.1443C>G (p.Gly481=)
|
rs757839011
|
|
|
NM_000089.4(COL1A2):c.1444C>A (p.Pro482Thr)
|
|
|
|
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
|
rs412777
|
|
|
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr)
|
rs2115904550
|
|
|
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)
|
rs1791952936
|
|
|
NM_000089.4(COL1A2):c.145C>A (p.Pro49Thr)
|
|
|
|
NM_000089.4(COL1A2):c.146C>A (p.Pro49His)
|
|
|
|
NM_000089.4(COL1A2):c.1474A>T (p.Ile492Phe)
|
rs776551401
|
|
|
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)
|
rs1554396612
|
|
|
NM_000089.4(COL1A2):c.1478G>A (p.Gly493Glu)
|
rs72658121
|
|
|
NM_000089.4(COL1A2):c.1478G>T (p.Gly493Val)
|
|
|
|
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala)
|
rs2115904764
|
|
|
NM_000089.4(COL1A2):c.149C>T (p.Pro50Leu)
|
rs377637698
|
|
|
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)
|
|
|
|
NM_000089.4(COL1A2):c.1503+12_1503+14del
|
rs772246319
|
|
|
NM_000089.4(COL1A2):c.1503+1G>A
|
rs1554396615
|
|
|
NM_000089.4(COL1A2):c.1503+1G>C
|
rs1554396615
|
|
|
NM_000089.4(COL1A2):c.1503+20T>C
|
|
|
|
NM_000089.4(COL1A2):c.1503+5G>A
|
|
|
|
NM_000089.4(COL1A2):c.1503+5_1503+9dup
|
|
|
|
NM_000089.4(COL1A2):c.1504-18T>G
|
|
|
|
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)
|
rs121912910
|
|
|
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)
|
|
|
|
NM_000089.4(COL1A2):c.150A>G (p.Pro50=)
|
rs369695645
|
|
|
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)
|
|
|
|
NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)
|
|
|
|
NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser)
|
rs1554396679
|
|
|
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)
|
rs1554396680
|
|
|
NM_000089.4(COL1A2):c.1515del (p.Asn507fs)
|
|
|
|
NM_000089.4(COL1A2):c.1524T>C (p.Gly508=)
|
|
|
|
NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser)
|
rs72658125
|
|
|
NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp)
|
rs66999265
|
|
|
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup)
|
rs1791961847
|
|
|
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)
|
rs1791962073
|
|
|
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser)
|
rs1185283931
|
|
|
NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1555C>A (p.Arg519=)
|
|
|
|
NM_000089.4(COL1A2):c.1557+11A>G
|
|
|
|
NM_000089.4(COL1A2):c.1557+12C>T
|
|
|
|
NM_000089.4(COL1A2):c.1557+6T>C
|
|
|
|
NM_000089.4(COL1A2):c.1557+8C>T
|
rs1584321985
|
|
|
NM_000089.4(COL1A2):c.1558-7T>C
|
|
|
|
NM_000089.4(COL1A2):c.1562C>T (p.Ala521Val)
|
|
|
|
NM_000089.4(COL1A2):c.1570C>T (p.Pro524Ser)
|
rs1791979962
|
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
|
NM_000089.4(COL1A2):c.157G>A (p.Asp53Asn)
|
|
|
|
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)
|
|
|
|
NM_000089.4(COL1A2):c.159T>C (p.Asp53=)
|
rs201699348
|
|
|
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)
|
|
|
|
NM_000089.4(COL1A2):c.1611+10T>C
|
rs2115908396
|
|
|
NM_000089.4(COL1A2):c.1611+3_1611+6del
|
|
|
|
NM_000089.4(COL1A2):c.1612-18C>G
|
|
|
|
NM_000089.4(COL1A2):c.1612-20C>A
|
|
|
|
NM_000089.4(COL1A2):c.1612-20C>T
|
|
|
|
NM_000089.4(COL1A2):c.1612-7C>T
|
|
|
|
NM_000089.4(COL1A2):c.1612-9C>T
|
|
|
|
NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1644_1645delinsTG (p.Pro549Ala)
|
|
|
|
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser)
|
rs42524
|
|
|
NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1652C>T (p.Pro551Leu)
|
|
|
|
NM_000089.4(COL1A2):c.1665+10C>T
|
|
|
|
NM_000089.4(COL1A2):c.1665+14_1665+15delinsCG
|
|
|
|
NM_000089.4(COL1A2):c.1665+20T>C
|
|
|
|
NM_000089.4(COL1A2):c.1665+9A>G
|
|
|
|
NM_000089.4(COL1A2):c.1666-19T>C
|
|
|
|
NM_000089.4(COL1A2):c.1666-6T>C
|
|
|
|
NM_000089.4(COL1A2):c.1666G>T (p.Gly556Cys)
|
rs1554396832
|
|
|
NM_000089.4(COL1A2):c.1675G>A (p.Gly559Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr)
|
rs2115910291
|
|
|
NM_000089.4(COL1A2):c.1689C>G (p.Pro563=)
|
|
|
|
NM_000089.4(COL1A2):c.1689C>T (p.Pro563=)
|
|
|
|
NM_000089.4(COL1A2):c.1693G>A (p.Gly565Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)
|
rs794727470
|
|
|
NM_000089.4(COL1A2):c.1700T>C (p.Val567Ala)
|
|
|
|
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu)
|
rs2115910396
|
|
|
NM_000089.4(COL1A2):c.1707A>G (p.Lys569=)
|
|
|
|
NM_000089.4(COL1A2):c.1710A>T (p.Pro570=)
|
rs373341681
|
|
|
NM_000089.4(COL1A2):c.1710dup (p.Gly571fs)
|
|
|
|
NM_000089.4(COL1A2):c.1719+18T>C
|
|
|
|
NM_000089.4(COL1A2):c.1719+19A>G
|
|
|
|
NM_000089.4(COL1A2):c.1719+7A>T
|
rs1554396853
|
|
|
NM_000089.4(COL1A2):c.1720-19A>G
|
|
|
|
NM_000089.4(COL1A2):c.1720-4C>T
|
|
|
|
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
|
|
|
|
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala)
|
rs1554396983
|
|
|
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)
|
|
|
|
NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala)
|
rs121912907
|
|
|
NM_000089.4(COL1A2):c.1764+1G>T
|
rs72658140
|
|
|
NM_000089.4(COL1A2):c.1764+7G>A
|
|
|
|
NM_000089.4(COL1A2):c.1764+8T>C
|
|
|
|
NM_000089.4(COL1A2):c.1765-10C>T
|
|
|
|
NM_000089.4(COL1A2):c.1765-2del
|
|
|
|
NM_000089.4(COL1A2):c.1765-5T>C
|
rs2115916781
|
|
|
NM_000089.4(COL1A2):c.1772G>A (p.Arg591His)
|
|
|
|
NM_000089.4(COL1A2):c.1772G>C (p.Arg591Pro)
|
|
|
|
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser)
|
rs72658141
|
|
|
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1789A>G (p.Ser597Gly)
|
|
|
|
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp)
|
rs72658142
|
|
|
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)
|
rs72658142
|
|
|
NM_000089.4(COL1A2):c.1797T>C (p.Ala599=)
|
|
|
|
NM_000089.4(COL1A2):c.179G>A (p.Gly60Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1800C>T (p.Ala600=)
|
|
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
|
NM_000089.4(COL1A2):c.1809del (p.Gly604fs)
|
rs1321582299
|
|
|
NM_000089.4(COL1A2):c.180C>A (p.Gly60=)
|
|
|
|
NM_000089.4(COL1A2):c.180C>T (p.Gly60=)
|
rs756659600
|
|
|
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp)
|
rs2115917059
|
|
|
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)
|
|
|
|
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)
|
rs1792043985
|
|
|
NM_000089.4(COL1A2):c.1826G>A (p.Arg609Gln)
|
|
|
|
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
|
rs1792044352
|
|
|
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)
|
rs2115917195
|
|
|
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1842C>A (p.Pro614=)
|
rs931023370
|
|
|
NM_000089.4(COL1A2):c.1844_1850del (p.Pro615fs)
|
rs2115917238
|
|
|
NM_000089.4(COL1A2):c.1846G>A (p.Gly616Arg)
|
|
|
|
NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg)
|
|
|
|
NM_000089.4(COL1A2):c.1854T>C (p.Asp618=)
|
|
|
|
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu)
|
rs2115917306
|
|
|
NM_000089.4(COL1A2):c.1863+11A>G
|
|
|
|
NM_000089.4(COL1A2):c.1863+12T>C
|
|
|
|
NM_000089.4(COL1A2):c.1863+6dup
|
|
|
|
NM_000089.4(COL1A2):c.1863G>A (p.Lys621=)
|
|
|
|
NM_000089.4(COL1A2):c.1864-16A>G
|
|
|
|
NM_000089.4(COL1A2):c.1864-18A>G
|
|
|
|
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)
|
rs2115921275
|
|
|
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)
|
rs193922162
|
|
|
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala)
|
rs72658145
|
|
|
NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1888G>A (p.Val630Met)
|
|
|
|
NM_000089.4(COL1A2):c.1890G>A (p.Val630=)
|
|
|
|
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp)
|
rs1584324507
|
|
|
NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)
|
rs1584324507
|
|
|
NM_000089.4(COL1A2):c.1895C>G (p.Thr632Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly)
|
rs2115921517
|
|
|
NM_000089.4(COL1A2):c.1902T>C (p.Gly634=)
|
|
|
|
NM_000089.4(COL1A2):c.1908T>A (p.Ser636=)
|
rs1584324517
|
|
|
NM_000089.4(COL1A2):c.1912C>T (p.Pro638Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu)
|
rs1064797338
|
|
|
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)
|
rs72658150
|
|
|
NM_000089.4(COL1A2):c.1943C>T (p.Ala648Val)
|
|
|
|
NM_000089.4(COL1A2):c.1948A>G (p.Ile650Val)
|
rs781672171
|
|
|
NM_000089.4(COL1A2):c.1952C>T (p.Pro651Leu)
|
|
|
|
NM_000089.4(COL1A2):c.1963G>A (p.Gly655Arg)
|
rs2115921786
|
|
|
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu)
|
rs1554397275
|
|
|
NM_000089.4(COL1A2):c.1971+10G>C
|
|
|
|
NM_000089.4(COL1A2):c.1971+3A>G
|
rs756587993
|
|
|
NM_000089.4(COL1A2):c.1971+3A>T
|
rs756587993
|
|
|
NM_000089.4(COL1A2):c.1971+4C>T
|
|
|
|
NM_000089.4(COL1A2):c.1981G>C (p.Gly661Arg)
|
|
|
|
NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys)
|
rs72658152
|
|
|
NM_000089.4(COL1A2):c.1987A>G (p.Arg663Gly)
|
|
|
|
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)
|
|
|
|
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
|
rs72658154
|
|
|
NM_000089.4(COL1A2):c.199C>T (p.Pro67Ser)
|
|
|
|
NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2011del (p.Arg671fs)
|
rs2115924490
|
|
|
NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp)
|
rs2115924495
|
|
|
NM_000089.4(COL1A2):c.2025+13T>C
|
|
|
|
NM_000089.4(COL1A2):c.2025+4A>G
|
|
|
|
NM_000089.4(COL1A2):c.2025+7A>G
|
|
|
|
NM_000089.4(COL1A2):c.2026-19G>C
|
rs546549922
|
|
|
NM_000089.4(COL1A2):c.2026-1_2042dup
|
rs1584325529
|
|
|
NM_000089.4(COL1A2):c.2026-20T>C
|
|
|
|
NM_000089.4(COL1A2):c.2026-2A>G
|
|
|
|
NM_000089.4(COL1A2):c.2026-5A>G
|
|
|
|
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)
|
rs66883877
|
|
|
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)
|
rs1584325552
|
|
|
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala)
|
rs2115927860
|
|
|
NM_000089.4(COL1A2):c.2038_2055dup (p.Gly685_Pro686insAlaValGlyAlaProGly)
|
|
|
|
NM_000089.4(COL1A2):c.2040T>C (p.Ala680=)
|
rs2115927910
|
|
|
NM_000089.4(COL1A2):c.2046T>A (p.Gly682=)
|
rs2115927971
|
|
|
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
|
rs1792108068
|
|
|
NM_000089.4(COL1A2):c.2074G>A (p.Asp692Asn)
|
|
|
|
NM_000089.4(COL1A2):c.2079+11A>G
|
|
|
|
NM_000089.4(COL1A2):c.2079+15dup
|
|
|
|
NM_000089.4(COL1A2):c.2079+9G>A
|
|
|
|
NM_000089.4(COL1A2):c.207C>A (p.Gly69=)
|
|
|
|
NM_000089.4(COL1A2):c.207C>G (p.Gly69=)
|
|
|
|
NM_000089.4(COL1A2):c.2080-11T>C
|
rs983048164
|
|
|
NM_000089.4(COL1A2):c.2080-15T>G
|
|
|
|
NM_000089.4(COL1A2):c.2080-20C>A
|
|
|
|
NM_000089.4(COL1A2):c.2080-20C>T
|
|
|
|
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)
|
rs121912908
|
|
|
NM_000089.4(COL1A2):c.2081G>A (p.Gly694Asp)
|
|
|
|
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)
|
rs193229878
|
|
|
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=)
|
rs193229878
|
|
|
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
|
|
|
|
NM_000089.4(COL1A2):c.2088T>A (p.Ala696=)
|
|
|
|
NM_000089.4(COL1A2):c.208C>T (p.Pro70Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2095G>C (p.Ala699Pro)
|
|
|
|
NM_000089.4(COL1A2):c.2095GCTGGTCCT[4] (p.Pro707_Arg708insAlaGlyPro)
|
|
|
|
NM_000089.4(COL1A2):c.2097T>C (p.Ala699=)
|
|
|
|
NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg)
|
rs72658160
|
|
|
NM_000089.4(COL1A2):c.2101C>G (p.Pro701Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
|
|
|
|
NM_000089.4(COL1A2):c.210C>G (p.Pro70=)
|
rs1791665131
|
|
|
NM_000089.4(COL1A2):c.2113G>T (p.Ala705Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro)
|
rs72658163
|
|
|
NM_000089.4(COL1A2):c.2133+12C>A
|
rs554520173
|
|
|
NM_000089.4(COL1A2):c.2133+19C>A
|
|
|
|
NM_000089.4(COL1A2):c.2133+6T>A
|
rs72658164
|
|
|
NM_000089.4(COL1A2):c.2133+8A>C
|
rs1554397570
|
|
|
NM_000089.4(COL1A2):c.2134-14del
|
|
|
|
NM_000089.4(COL1A2):c.2134-4C>T
|
|
|
|
NM_000089.4(COL1A2):c.2134-8C>G
|
rs1792132576
|
|
|
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)
|
|
|
|
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu)
|
rs773392397
|
|
|
NM_000089.4(COL1A2):c.2145T>G (p.Gly715=)
|
|
|
|
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly)
|
rs1584326175
|
|
|
NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser)
|
rs72658168
|
|
|
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile)
|
rs189374343
|
|
|
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
|
|
|
|
NM_000089.4(COL1A2):c.2187+13T>G
|
|
|
|
NM_000089.4(COL1A2):c.2187+14A>G
|
rs1792135004
|
|
|
NM_000089.4(COL1A2):c.2187+15A>G
|
|
|
|
NM_000089.4(COL1A2):c.2187+6T>A
|
rs794727585
|
|
|
NM_000089.4(COL1A2):c.2188-11dup
|
|
|
|
NM_000089.4(COL1A2):c.2188-12T>C
|
|
|
|
NM_000089.4(COL1A2):c.2188-6_2188-1dup
|
|
|
|
NM_000089.4(COL1A2):c.2188-7C>T
|
|
|
|
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)
|
rs72658171
|
|
|
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)
|
|
|
|
NM_000089.4(COL1A2):c.2198G>C (p.Gly733Ala)
|
rs2115931844
|
|
|
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)
|
rs72658173
|
|
|
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)
|
rs72658174
|
|
|
NM_000089.4(COL1A2):c.2215G>C (p.Gly739Arg)
|
rs72658174
|
|
|
NM_000089.4(COL1A2):c.222T>C (p.Gly74=)
|
|
|
|
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)
|
rs1562905246
|
|
|
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
|
|
|
|
NM_000089.4(COL1A2):c.225+15G>A
|
|
|
|
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)
|
rs72658176
|
|
|
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)
|
rs1792139807
|
|
|
NM_000089.4(COL1A2):c.226-16T>C
|
rs542458716
|
|
|
NM_000089.4(COL1A2):c.226-1G>C
|
rs66820119
|
|
|
NM_000089.4(COL1A2):c.226-2A>G
|
rs72656355
|
|
|
NM_000089.4(COL1A2):c.226-7T>C
|
rs2115865163
|
|
|
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)
|
rs72658177
|
|
|
NM_000089.4(COL1A2):c.2262T>C (p.Gly754=)
|
|
|
|
NM_000089.4(COL1A2):c.2276T>C (p.Val759Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2277T>C (p.Val759=)
|
|
|
|
NM_000089.4(COL1A2):c.2278G>A (p.Gly760Arg)
|
rs1584326393
|
|
|
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
|
rs1792140624
|
|
|
NM_000089.4(COL1A2):c.2280A>G (p.Gly760=)
|
|
|
|
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)
|
|
|
|
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)
|
rs72658179
|
|
|
NM_000089.4(COL1A2):c.2295+15C>G
|
rs1359360545
|
|
|
NM_000089.4(COL1A2):c.2295+1G>A
|
|
|
|
NM_000089.4(COL1A2):c.2295+3A>C
|
rs757560633
|
|
|
NM_000089.4(COL1A2):c.2295+5G>C
|
rs2115932392
|
|
|
NM_000089.4(COL1A2):c.2295T>C (p.Ala765=)
|
|
|
|
NM_000089.4(COL1A2):c.2296-3T>G
|
|
|
|
NM_000089.4(COL1A2):c.2296-9del
|
rs1193169956
|
|
|
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)
|
rs72658182
|
|
|
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)
|
rs72658182
|
|
|
NM_000089.4(COL1A2):c.22C>T (p.Arg8Trp)
|
|
|
|
NM_000089.4(COL1A2):c.2301A>T (p.Pro767=)
|
|
|
|
NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
|
rs1792147522
|
|
|
NM_000089.4(COL1A2):c.2313C>A (p.Pro771=)
|
|
|
|
NM_000089.4(COL1A2):c.2313C>G (p.Pro771=)
|
rs144837722
|
|
|
NM_000089.4(COL1A2):c.2313C>T (p.Pro771=)
|
rs144837722
|
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
|
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)
|
rs72658185
|
|
|
NM_000089.4(COL1A2):c.2316T>C (p.Gly772=)
|
|
|
|
NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg)
|
rs2115933691
|
|
|
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)
|
rs1792148801
|
|
|
NM_000089.4(COL1A2):c.2329C>G (p.Arg777Gly)
|
|
|
|
NM_000089.4(COL1A2):c.2329C>T (p.Arg777Cys)
|
rs779108678
|
|
|
NM_000089.4(COL1A2):c.2329_2331del (p.Arg777del)
|
|
|
|
NM_000089.4(COL1A2):c.2330GTG[1] (p.Gly778del)
|
|
|
|
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)
|
|
|
|
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)
|
rs2115933783
|
|
|
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)
|
rs1792149726
|
|
|
NM_000089.4(COL1A2):c.2345C>T (p.Pro782Leu)
|
|
|
|
NM_000089.4(COL1A2):c.2348dup (p.Gly784fs)
|
|
|
|
NM_000089.4(COL1A2):c.2349+3G>A
|
|
|
|
NM_000089.4(COL1A2):c.2350-20C>G
|
|
|
|
NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala)
|
rs2115936945
|
|
|
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
|
|
|
|
NM_000089.4(COL1A2):c.2385T>G (p.Thr795=)
|
|
|
|
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)
|
rs72658189
|
|
|
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2402_2403insA (p.Gly802fs)
|
|
|
|
NM_000089.4(COL1A2):c.2403+14T>C
|
|
|
|
NM_000089.4(COL1A2):c.2403+20C>T
|
|
|
|
NM_000089.4(COL1A2):c.2403+3A>G
|
|
|
|
NM_000089.4(COL1A2):c.2404-15T>C
|
|
|
|
NM_000089.4(COL1A2):c.2404-17del
|
|
|
|
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)
|
rs1562906013
|
|
|
NM_000089.4(COL1A2):c.2406T>C (p.Gly802=)
|
rs1792198032
|
|
|
NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys)
|
rs72658190
|
|
|
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)
|
rs763053421
|
|
|
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)
|
|
|
|
NM_000089.4(COL1A2):c.2429C>G (p.Pro810Arg)
|
|
|
|
NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser)
|
rs2115940948
|
|
|
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu)
|
rs1554397975
|
|
|
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp)
|
rs2115941022
|
|
|
NM_000089.4(COL1A2):c.2455C>T (p.Arg819Cys)
|
rs2115941044
|
|
|
NM_000089.4(COL1A2):c.245A>G (p.Asp82Gly)
|
|
|
|
NM_000089.4(COL1A2):c.2464C>T (p.Arg822Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2472C>T (p.Asp824=)
|
|
|
|
NM_000089.4(COL1A2):c.2474A>C (p.Gln825Pro)
|
rs556922843
|
|
|
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)
|
|
|
|
NM_000089.4(COL1A2):c.2481A>T (p.Pro827=)
|
|
|
|
NM_000089.4(COL1A2):c.2482G>T (p.Val828Phe)
|
|
|
|
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)
|
|
|
|
NM_000089.4(COL1A2):c.2508A>G (p.Ala836=)
|
rs563505012
|
|
|
NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)
|
|
|
|
NM_000089.4(COL1A2):c.2515C>T (p.Pro839Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2521G>A (p.Gly841Ser)
|
rs72658194
|
|
|
NM_000089.4(COL1A2):c.2539G>A (p.Gly847Ser)
|
|
|
|
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)
|
|
|
|
NM_000089.4(COL1A2):c.2550A>G (p.Gly850=)
|
|
|
|
NM_000089.4(COL1A2):c.2550A>T (p.Gly850=)
|
|
|
|
NM_000089.4(COL1A2):c.2553G>A (p.Glu851=)
|
rs1288784071
|
|
|
NM_000089.4(COL1A2):c.2554G>A (p.Ala852Thr)
|
|
|
|
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
|
|
|
|
NM_000089.4(COL1A2):c.255A>C (p.Gly85=)
|
|
|
|
NM_000089.4(COL1A2):c.255A>G (p.Gly85=)
|
rs772309296
|
|
|
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr)
|
rs541473356
|
|
|
NM_000089.4(COL1A2):c.2565+12C>A
|
|
|
|
NM_000089.4(COL1A2):c.2565+15A>G
|
|
|
|
NM_000089.4(COL1A2):c.2565+1G>A
|
rs72658198
|
|
|
NM_000089.4(COL1A2):c.2565+1G>C
|
rs72658198
|
|
|
NM_000089.4(COL1A2):c.2565+2T>A
|
rs2115941689
|
|
|
NM_000089.4(COL1A2):c.2565+3_2565+6del
|
rs1584328061
|
|
|
NM_000089.4(COL1A2):c.2565+7G>C
|
rs368445054
|
|
|
NM_000089.4(COL1A2):c.2566-10dup
|
|
|
|
NM_000089.4(COL1A2):c.2566-9T>C
|
|
|
|
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)
|
rs150179964
|
|
|
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser)
|
rs150179964
|
|
|
NM_000089.4(COL1A2):c.2576G>A (p.Gly859Asp)
|
|
|
|
NM_000089.4(COL1A2):c.2595T>C (p.Gly865=)
|
|
|
|
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val)
|
rs538945650
|
|
|
NM_000089.4(COL1A2):c.2596CTT[1] (p.Leu867del)
|
|
|
|
NM_000089.4(COL1A2):c.2603G>C (p.Gly868Ala)
|
rs2115946426
|
|
|
NM_000089.4(COL1A2):c.2622T>A (p.Gly874=)
|
rs769128071
|
|
|
NM_000089.4(COL1A2):c.2625C>G (p.Leu875=)
|
rs1300787252
|
|
|
NM_000089.4(COL1A2):c.2640T>G (p.Gly880=)
|
|
|
|
NM_000089.4(COL1A2):c.2652A>G (p.Leu884=)
|
rs767163464
|
|
|
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
|
|
|
|
NM_000089.4(COL1A2):c.266G>T (p.Gly89Val)
|
|
|
|
NM_000089.4(COL1A2):c.2673+15G>A
|
|
|
|
NM_000089.4(COL1A2):c.2673+20C>T
|
rs2115947001
|
|
|
NM_000089.4(COL1A2):c.2673+6T>A
|
|
|
|
NM_000089.4(COL1A2):c.2673+7G>T
|
|
|
|
NM_000089.4(COL1A2):c.2673+9T>C
|
rs2115946928
|
|
|
NM_000089.4(COL1A2):c.2673G>A (p.Val891=)
|
rs1114167364
|
|
|
NM_000089.4(COL1A2):c.2674-3T>G
|
rs72659303
|
|
|
NM_000089.4(COL1A2):c.2674-6G>C
|
rs771442891
|
|
|
NM_000089.4(COL1A2):c.2674-9C>A
|
rs2115949204
|
|
|
NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp)
|
rs72659304
|
|
|
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2711G>T (p.Gly904Val)
|
|
|
|
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser)
|
rs1344095248
|
|
|
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2717G>C (p.Arg906Pro)
|
rs147063981
|
|
|
NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser)
|
rs1554398251
|
|
|
NM_000089.4(COL1A2):c.271G>T (p.Gly91Ter)
|
rs764355552
|
|
|
NM_000089.4(COL1A2):c.2727T>A (p.Pro909=)
|
rs2115949635
|
|
|
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)
|
|
|
|
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)
|
rs1305819869
|
|
|
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
|
|
|
|
NM_000089.4(COL1A2):c.2739T>G (p.Gly913=)
|
|
|
|
NM_000089.4(COL1A2):c.2740A>G (p.Ser914Gly)
|
|
|
|
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)
|
rs72659308
|
|
|
NM_000089.4(COL1A2):c.2755G>T (p.Gly919Cys)
|
rs749621872
|
|
|
NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp)
|
rs1554398261
|
|
|
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2771C>G (p.Ala924Gly)
|
|
|
|
NM_000089.4(COL1A2):c.2775T>A (p.Gly925=)
|
|
|
|
NM_000089.4(COL1A2):c.2776C>T (p.Arg926Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2781+16G>A
|
|
|
|
NM_000089.4(COL1A2):c.2782-11T>C
|
|
|
|
NM_000089.4(COL1A2):c.2782-13G>A
|
|
|
|
NM_000089.4(COL1A2):c.2782-18T>G
|
|
|
|
NM_000089.4(COL1A2):c.2782-8C>G
|
|
|
|
NM_000089.4(COL1A2):c.2784C>A (p.Gly928=)
|
|
|
|
NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)
|
|
|
|
NM_000089.4(COL1A2):c.279+1G>A
|
rs67398234
|
|
|
NM_000089.4(COL1A2):c.279+2T>C
|
rs72656357
|
|
|
NM_000089.4(COL1A2):c.279+3A>G
|
|
|
|
NM_000089.4(COL1A2):c.279+7T>A
|
|
|
|
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)
|
rs1792256171
|
|
|
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)
|
rs72656356
|
|
|
NM_000089.4(COL1A2):c.280-16T>C
|
|
|
|
NM_000089.4(COL1A2):c.280-17A>C
|
|
|
|
NM_000089.4(COL1A2):c.280-2A>G
|
rs2115874899
|
|
|
NM_000089.4(COL1A2):c.280-2del
|
|
|
|
NM_000089.4(COL1A2):c.280-7_280-3del
|
rs2115874855
|
|
|
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp)
|
rs1584329740
|
|
|
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)
|
rs1792257312
|
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
|
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr)
|
rs1476399806
|
|
|
NM_000089.4(COL1A2):c.2832C>T (p.His944=)
|
|
|
|
NM_000089.4(COL1A2):c.2835+1G>A
|
rs72659310
|
|
|
NM_000089.4(COL1A2):c.2835+1G>T
|
|
|
|
NM_000089.4(COL1A2):c.2836-20del
|
|
|
|
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
|
|
|
|
NM_000089.4(COL1A2):c.2841G>A (p.Glu947=)
|
rs1562907108
|
|
|
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)
|
rs779303344
|
|
|
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=)
|
rs772555004
|
|
|
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)
|
rs72659312
|
|
|
NM_000089.4(COL1A2):c.2858A>G (p.Asn953Ser)
|
|
|
|
NM_000089.4(COL1A2):c.285A>G (p.Leu95=)
|
rs918955690
|
|
|
NM_000089.4(COL1A2):c.2865T>C (p.Gly955=)
|
|
|
|
NM_000089.4(COL1A2):c.2869G>A (p.Val957Ile)
|
|
|
|
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val)
|
rs1482901474
|
|
|
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
|
|
|
|
NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp)
|
|
|
|
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg)
|
rs1437648908
|
|
|
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=)
|
rs142352627
|
|
|
NM_000089.4(COL1A2):c.2913T>C (p.Pro971=)
|
rs2115952533
|
|
|
NM_000089.4(COL1A2):c.2918G>A (p.Gly973Asp)
|
|
|
|
NM_000089.4(COL1A2):c.2937T>C (p.Gly979=)
|
rs1584329988
|
|
|
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly)
|
rs2115952651
|
|
|
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)
|
rs797044459
|
|
|
NM_000089.4(COL1A2):c.2943+10T>C
|
|
|
|
NM_000089.4(COL1A2):c.2943+1G>C
|
rs1562907190
|
|
|
NM_000089.4(COL1A2):c.2944-14T>G
|
|
|
|
NM_000089.4(COL1A2):c.2944-16C>T
|
rs373903050
|
|
|
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)
|
rs1792269292
|
|
|
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser)
|
rs2115953343
|
|
|
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala)
|
rs1584330105
|
|
|
NM_000089.4(COL1A2):c.2961T>G (p.Val987=)
|
rs1584330108
|
|
|
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)
|
|
|
|
NM_000089.4(COL1A2):c.2964T>C (p.Gly988=)
|
|
|
|
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)
|
rs1554398396
|
|
|
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu)
|
rs1792270576
|
|
|
NM_000089.4(COL1A2):c.2985A>G (p.Pro995=)
|
|
|
|
NM_000089.4(COL1A2):c.2997+11G>C
|
|
|
|
NM_000089.4(COL1A2):c.2997+6T>A
|
rs1584330154
|
|
|
NM_000089.4(COL1A2):c.2998-12G>A
|
|
|
|
NM_000089.4(COL1A2):c.2998-18C>T
|
|
|
|
NM_000089.4(COL1A2):c.2998-19T>A
|
rs768118794
|
|
|
NM_000089.4(COL1A2):c.2998-19T>C
|
|
|
|
NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)
|
|
|
|
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)
|
rs1584315950
|
|
|
NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)
|
|
|
|
NM_000089.4(COL1A2):c.3000C>T (p.Gly1000=)
|
rs1554398439
|
|
|
NM_000089.4(COL1A2):c.3006A>G (p.Gln1002=)
|
|
|
|
NM_000089.4(COL1A2):c.3009C>T (p.Gly1003=)
|
|
|
|
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)
|
|
|
|
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
|
|
|
|
NM_000089.4(COL1A2):c.302C>T (p.Pro101Leu)
|
|
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
|
NM_000089.4(COL1A2):c.3036T>G (p.Gly1012=)
|
|
|
|
NM_000089.4(COL1A2):c.3049A>G (p.Arg1017Gly)
|
|
|
|
NM_000089.4(COL1A2):c.304C>A (p.Pro102Thr)
|
rs189557655
|
|
|
NM_000089.4(COL1A2):c.305C>G (p.Pro102Arg)
|
rs780850548
|
|
|
NM_000089.4(COL1A2):c.306T>C (p.Pro102=)
|
|
|
|
NM_000089.4(COL1A2):c.3074A>G (p.His1025Arg)
|
|
|
|
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)
|
|
|
|
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)
|
|
|
|
NM_000089.4(COL1A2):c.3105+16C>A
|
|
|
|
NM_000089.4(COL1A2):c.3105+16C>T
|
|
|
|
NM_000089.4(COL1A2):c.3105+2T>C
|
rs72659324
|
|
|
NM_000089.4(COL1A2):c.3105+8A>G
|
|
|
|
NM_000089.4(COL1A2):c.3106-10G>A
|
|
|
|
NM_000089.4(COL1A2):c.3106-11T>C
|
rs1792292305
|
|
|
NM_000089.4(COL1A2):c.3106-14T>C
|
|
|
|
NM_000089.4(COL1A2):c.3106-16T>C
|
|
|
|
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)
|
rs72659325
|
|
|
NM_000089.4(COL1A2):c.3118G>T (p.Asp1040Tyr)
|
|
|
|
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)
|
rs72659327
|
|
|
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
|
|
|
|
NM_000089.4(COL1A2):c.3130C>T (p.Pro1044Ser)
|
|
|
|
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=)
|
rs1800248
|
|
|
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)
|
rs1800248
|
|
|
NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp)
|
|
|
|
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)
|
rs2115957255
|
|
|
NM_000089.4(COL1A2):c.3159+15G>A
|
|
|
|
NM_000089.4(COL1A2):c.3159+1G>A
|
|
|
|
NM_000089.4(COL1A2):c.3159+3A>C
|
rs2115957293
|
|
|
NM_000089.4(COL1A2):c.3159+6T>A
|
rs2115957317
|
|
|
NM_000089.4(COL1A2):c.3159+8G>A
|
|
|
|
NM_000089.4(COL1A2):c.3160-19T>C
|
|
|
|
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)
|
|
|
|
NM_000089.4(COL1A2):c.3170G>A (p.Gly1057Asp)
|
rs2115957747
|
|
|
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)
|
|
|
|
NM_000089.4(COL1A2):c.3177T>C (p.Ser1059=)
|
|
|
|
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)
|
rs2115875189
|
|
|
NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)
|
|
|
|
NM_000089.4(COL1A2):c.3207A>G (p.Gly1069=)
|
rs2115957872
|
|
|
NM_000089.4(COL1A2):c.3208C>T (p.His1070Tyr)
|
|
|
|
NM_000089.4(COL1A2):c.3210T>A (p.His1070Gln)
|
rs2115957891
|
|
|
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr)
|
rs886062518
|
|
|
NM_000089.4(COL1A2):c.3225A>G (p.Gly1075=)
|
rs756009155
|
|
|
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)
|
rs763974489
|
|
|
NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)
|
|
|
|
NM_000089.4(COL1A2):c.3228T>C (p.Pro1076=)
|
|
|
|
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp)
|
rs72659332
|
|
|
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
|
|
|
|
NM_000089.4(COL1A2):c.3234C>T (p.Gly1078=)
|
|
|
|
NM_000089.4(COL1A2):c.3238C>T (p.Arg1080Ter)
|
rs780395429
|
|
|
NM_000089.4(COL1A2):c.324+14G>A
|
|
|
|
NM_000089.4(COL1A2):c.324+4del
|
rs1791756559
|
|
|
NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)
|
|
|
|
NM_000089.4(COL1A2):c.325-19C>T
|
|
|
|
NM_000089.4(COL1A2):c.325-20A>G
|
rs2115875469
|
|
|
NM_000089.4(COL1A2):c.325-9T>C
|
|
|
|
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
|
rs1792298693
|
|
|
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)
|
|
|
|
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)
|
rs72659335
|
|
|
NM_000089.4(COL1A2):c.3267+5G>C
|
rs2115958193
|
|
|
NM_000089.4(COL1A2):c.3268-19C>T
|
|
|
|
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)
|
|
|
|
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
|
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=)
|
rs548761767
|
|
|
NM_000089.4(COL1A2):c.3270C>T (p.Gly1090=)
|
|
|
|
NM_000089.4(COL1A2):c.3276del (p.Gly1093fs)
|
rs1173518955
|
|
|
NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg)
|
rs2115959456
|
|
|
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5])
|
rs74315103
|
|
|
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)
|
rs1792308325
|
|
|
NM_000089.4(COL1A2):c.3287G>A (p.Gly1096Asp)
|
|
|
|
NM_000089.4(COL1A2):c.3289C>T (p.Pro1097Ser)
|
|
|
|
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)
|
|
|
|
NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp)
|
|
|
|
NM_000089.4(COL1A2):c.3312C>T (p.Ser1104=)
|
|
|
|
NM_000089.4(COL1A2):c.3319G>T (p.Gly1107Cys)
|
rs745396382
|
|
|
NM_000089.4(COL1A2):c.3338A>C (p.Asp1113Ala)
|
rs1562908093
|
|
|
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser)
|
rs1554395411
|
|
|
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys)
|
rs2115959866
|
|
|
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)
|
rs193922168
|
|
|
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn)
|
rs2115959912
|
|
|
NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly)
|
rs2115959926
|
|
|
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)
|
rs1791759246
|
|
|
NM_000089.4(COL1A2):c.3360C>A (p.Asp1120Glu)
|
|
|
|
NM_000089.4(COL1A2):c.3367C>T (p.Arg1123Cys)
|
rs765271962
|
|
|
NM_000089.4(COL1A2):c.3368G>A (p.Arg1123His)
|
rs145541630
|
|
|
NM_000089.4(COL1A2):c.3368G>C (p.Arg1123Pro)
|
|
|
|
NM_000089.4(COL1A2):c.3382C>T (p.Leu1128Phe)
|
|
|
|
NM_000089.4(COL1A2):c.3403G>T (p.Val1135Phe)
|
|
|
|
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly)
|
rs745366015
|
|
|
NM_000089.4(COL1A2):c.3407A>T (p.Asp1136Val)
|
rs745366015
|
|
|
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg)
|
rs2115875606
|
|
|
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His)
|
rs374282276
|
|
|
NM_000089.4(COL1A2):c.3430A>T (p.Asn1144Tyr)
|
rs374282276
|
|
|
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln)
|
rs746701185
|
|
|
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)
|
rs1791759301
|
|
|
NM_000089.4(COL1A2):c.3443C>T (p.Thr1148Ile)
|
|
|
|
NM_000089.4(COL1A2):c.3444C>T (p.Thr1148=)
|
|
|
|
NM_000089.4(COL1A2):c.3453T>G (p.Thr1151=)
|
|
|
|
NM_000089.4(COL1A2):c.3463T>A (p.Ser1155Thr)
|
|
|
|
NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)
|
|
|
|
NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)
|
|
|
|
NM_000089.4(COL1A2):c.3481C>T (p.Arg1161Cys)
|
|
|
|
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu)
|
rs542912072
|
|
|
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr)
|
rs1792314999
|
|
|
NM_000089.4(COL1A2):c.348T>C (p.Pro116=)
|
|
|
|
NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu)
|
rs72659340
|
|
|
NM_000089.4(COL1A2):c.3502C>A (p.Leu1168Ile)
|
|
|
|
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)
|
|
|
|
NM_000089.4(COL1A2):c.3526+12T>C
|
|
|
|
NM_000089.4(COL1A2):c.3526+15C>G
|
|
|
|
NM_000089.4(COL1A2):c.3526+17A>G
|
|
|
|
NM_000089.4(COL1A2):c.3526+3A>G
|
|
|
|
NM_000089.4(COL1A2):c.3527-4A>T
|
rs888826541
|
|
|
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del)
|
rs1554398685
|
|
|
NM_000089.4(COL1A2):c.353G>A (p.Gly118Asp)
|
|
|
|
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)
|
rs72656358
|
|
|
NM_000089.4(COL1A2):c.3556T>C (p.Cys1186Arg)
|
rs1421198378
|
|
|
NM_000089.4(COL1A2):c.3559A>G (p.Thr1187Ala)
|
|
|
|
NM_000089.4(COL1A2):c.3562A>G (p.Met1188Val)
|
|
|
|
NM_000089.4(COL1A2):c.3565G>A (p.Asp1189Asn)
|
|
|
|
NM_000089.4(COL1A2):c.3566A>G (p.Asp1189Gly)
|
rs754575611
|
|
|
NM_000089.4(COL1A2):c.3571A>G (p.Ile1191Val)
|
rs1792328980
|
|
|
NM_000089.4(COL1A2):c.3573C>A (p.Ile1191=)
|
|
|
|
NM_000089.4(COL1A2):c.3575A>G (p.Lys1192Arg)
|
|
|
|
NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser)
|
|
|
|
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)
|
rs2115962248
|
|
|
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del)
|
rs2115962258
|
|
|
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)
|
|
|
|
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr)
|
rs1792329797
|
|
|
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)
|
|
|
|
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter)
|
rs72659343
|
|
|
NM_000089.4(COL1A2):c.3612C>T (p.Ile1204=)
|
|
|
|
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro)
|
rs200492800
|
|
|
NM_000089.4(COL1A2):c.3621A>G (p.Gln1207=)
|
rs2115962565
|
|
|
NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)
|
|
|
|
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys)
|
rs267601644
|
|
|
NM_000089.4(COL1A2):c.362G>A (p.Gly121Asp)
|
rs2115875700
|
|
|
NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)
|
|
|
|
NM_000089.4(COL1A2):c.3635C>T (p.Pro1212Leu)
|
|
|
|
NM_000089.4(COL1A2):c.3656G>A (p.Ser1219Asn)
|
rs1554398702
|
|
|
NM_000089.4(COL1A2):c.3673C>T (p.His1225Tyr)
|
rs535142482
|
|
|
NM_000089.4(COL1A2):c.3678C>T (p.Val1226=)
|
|
|
|
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr)
|
rs774383359
|
|
|
NM_000089.4(COL1A2):c.368C>A (p.Pro123His)
|
rs1791759808
|
|
|
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=)
|
rs1792333529
|
|
|
NM_000089.4(COL1A2):c.36G>C (p.Leu12=)
|
rs1584310252
|
|
|
NM_000089.4(COL1A2):c.3711+10C>A
|
|
|
|
NM_000089.4(COL1A2):c.3711+3G>A
|
|
|
|
NM_000089.4(COL1A2):c.3711+6G>A
|
|
|
|
NM_000089.4(COL1A2):c.3712-7T>C
|
|
|
|
NM_000089.4(COL1A2):c.3720T>C (p.Tyr1240=)
|
|
|
|
NM_000089.4(COL1A2):c.3732A>G (p.Gly1244=)
|
|
|
|
NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)
|
|
|
|
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr)
|
rs763721360
|
|
|
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val)
|
rs1792349508
|
|
|
NM_000089.4(COL1A2):c.3760C>T (p.Leu1254Phe)
|
|
|
|
NM_000089.4(COL1A2):c.3762T>C (p.Leu1254=)
|
rs1584332680
|
|
|
NM_000089.4(COL1A2):c.3769A>G (p.Met1257Val)
|
rs1792350190
|
|
|
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys)
|
rs766273613
|
|
|
NM_000089.4(COL1A2):c.3774C>T (p.Arg1258=)
|
rs1434722026
|
|
|
NM_000089.4(COL1A2):c.3775C>T (p.Leu1259=)
|
|
|
|
NM_000089.4(COL1A2):c.3777G>T (p.Leu1259=)
|
rs1314683467
|
|
|
NM_000089.4(COL1A2):c.3783C>T (p.Ala1261=)
|
rs201393190
|
|
|
NM_000089.4(COL1A2):c.379-13C>T
|
|
|
|
NM_000089.4(COL1A2):c.379-3T>C
|
|
|
|
NM_000089.4(COL1A2):c.3797A>C (p.Gln1266Pro)
|
|
|
|
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys)
|
rs886062519
|
|
|
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser)
|
rs1554398835
|
|
|
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)
|
rs1554398835
|
|
|
NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)
|
|
|
|
NM_000089.4(COL1A2):c.3832T>C (p.Tyr1278His)
|
|
|
|
NM_000089.4(COL1A2):c.3835A>T (p.Met1279Leu)
|
|
|
|
NM_000089.4(COL1A2):c.3836T>C (p.Met1279Thr)
|
|
|
|
NM_000089.4(COL1A2):c.3838G>A (p.Asp1280Asn)
|
|
|
|
NM_000089.4(COL1A2):c.3852C>T (p.Gly1284=)
|
rs663
|
|
|
NM_000089.4(COL1A2):c.3856C>T (p.Leu1286=)
|
rs1584332859
|
|
|
NM_000089.4(COL1A2):c.3858G>A (p.Leu1286=)
|
|
|
|
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro)
|
rs759477389
|
|
|
NM_000089.4(COL1A2):c.3866C>G (p.Ala1289Gly)
|
|
|
|
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)
|
rs1792353123
|
|
|
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg)
|
rs2115966913
|
|
|
NM_000089.4(COL1A2):c.3885T>C (p.Ser1295=)
|
|
|
|
NM_000089.4(COL1A2):c.3889G>A (p.Asp1297Asn)
|
|
|
|
NM_000089.4(COL1A2):c.3897A>C (p.Glu1299Asp)
|
|
|
|
NM_000089.4(COL1A2):c.3897A>G (p.Glu1299=)
|
rs1562908882
|
|
|
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe)
|
rs1725653924
|
|
|
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)
|
rs72656360
|
|
|
NM_000089.4(COL1A2):c.3902T>C (p.Val1301Ala)
|
|
|
|
NM_000089.4(COL1A2):c.392C>T (p.Ala131Val)
|
|
|
|
NM_000089.4(COL1A2):c.3936dup (p.Leu1313fs)
|
rs2115967082
|
|
|
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg)
|
rs1792355097
|
|
|
NM_000089.4(COL1A2):c.394C>T (p.Arg132Cys)
|
|
|
|
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr)
|
rs2115967180
|
|
|
NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter)
|
|
|
|
NM_000089.4(COL1A2):c.3951C>T (p.Cys1317=)
|
|
|
|
NM_000089.4(COL1A2):c.3954+15A>T
|
|
|
|
NM_000089.4(COL1A2):c.3954+17T>C
|
|
|
|
NM_000089.4(COL1A2):c.3954+8_3954+10del
|
rs1792355337
|
|
|
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)
|
rs2115969692
|
|
|
NM_000089.4(COL1A2):c.3974G>A (p.Gly1325Glu)
|
|
|
|
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met)
|
rs943353660
|
|
|
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)
|
rs1562899031
|
|
|
NM_000089.4(COL1A2):c.3993C>T (p.Tyr1331=)
|
rs1053163831
|
|
|
NM_000089.4(COL1A2):c.4020C>G (p.Pro1340=)
|
|
|
|
NM_000089.4(COL1A2):c.4020C>T (p.Pro1340=)
|
rs138451009
|
|
|
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)
|
|
|
|
NM_000089.4(COL1A2):c.402A>C (p.Pro134=)
|
|
|
|
NM_000089.4(COL1A2):c.402_413del (p.Ala135_Pro138del)
|
|
|
|
NM_000089.4(COL1A2):c.4047C>G (p.Ile1349Met)
|
|
|
|
NM_000089.4(COL1A2):c.4047C>T (p.Ile1349=)
|
rs144133431
|
|
|
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter)
|
rs760626067
|
|
|
NM_000089.4(COL1A2):c.4069T>C (p.Phe1357Leu)
|
|
|
|
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)
|
rs1057524847
|
|
|
NM_000089.4(COL1A2):c.4098A>G (p.Lys1366=)
|
|
|
|
NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)
|
|
|
|
NM_000089.4(COL1A2):c.417C>T (p.Gly139=)
|
|
|
|
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
|
|
|
|
NM_000089.4(COL1A2):c.432+11A>T
|
|
|
|
NM_000089.4(COL1A2):c.432+16T>A
|
|
|
|
NM_000089.4(COL1A2):c.432+1G>A
|
rs1554395431
|
|
|
NM_000089.4(COL1A2):c.432+1G>C
|
|
|
|
NM_000089.4(COL1A2):c.432+1G>T
|
rs1554395431
|
|
|
NM_000089.4(COL1A2):c.432+2T>A
|
rs2115876295
|
|
|
NM_000089.4(COL1A2):c.432+4_432+7del
|
rs72656363
|
|
|
NM_000089.4(COL1A2):c.432+5G>A
|
rs72656364
|
|
|
NM_000089.4(COL1A2):c.433-10T>C
|
rs1791770493
|
|
|
NM_000089.4(COL1A2):c.433-14G>C
|
rs1465833801
|
|
|
NM_000089.4(COL1A2):c.433-16A>G
|
rs964597288
|
|
|
NM_000089.4(COL1A2):c.433-16A>T
|
|
|
|
NM_000089.4(COL1A2):c.433-1G>C
|
|
|
|
NM_000089.4(COL1A2):c.433-2A>C
|
rs1554395471
|
|
|
NM_000089.4(COL1A2):c.433-2A>G
|
rs1554395471
|
|
|
NM_000089.4(COL1A2):c.433-6G>A
|
|
|
|
NM_000089.4(COL1A2):c.434G>A (p.Gly145Asp)
|
|
|
|
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser)
|
rs1791770915
|
|
|
NM_000089.4(COL1A2):c.440C>G (p.Pro147Arg)
|
|
|
|
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)
|
|
|
|
NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter)
|
rs1791771616
|
|
|
NM_000089.4(COL1A2):c.456A>G (p.Arg152=)
|
|
|
|
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys)
|
rs1791771795
|
|
|
NM_000089.4(COL1A2):c.472G>A (p.Val158Ile)
|
rs750224681
|
|
|
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile)
|
rs886062514
|
|
|
NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)
|
|
|
|
NM_000089.4(COL1A2):c.486+1G>A
|
|
|
|
NM_000089.4(COL1A2):c.486+2T>G
|
rs2115877489
|
|
|
NM_000089.4(COL1A2):c.487-11T>C
|
|
|
|
NM_000089.4(COL1A2):c.487-4_501del
|
rs74315146
|
|
|
NM_000089.4(COL1A2):c.487-9_487-7del
|
|
|
|
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)
|
|
|
|
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)
|
|
|
|
NM_000089.4(COL1A2):c.500T>C (p.Phe167Ser)
|
|
|
|
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg)
|
rs2115879081
|
|
|
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser)
|
rs2115879087
|
|
|
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val)
|
rs768263997
|
|
|
NM_000089.4(COL1A2):c.517C>T (p.Leu173Phe)
|
|
|
|
NM_000089.4(COL1A2):c.520C>T (p.Pro174Ser)
|
|
|
|
NM_000089.4(COL1A2):c.529A>C (p.Lys177Gln)
|
rs1222909339
|
|
|
NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly)
|
rs200278401
|
|
|
NM_000089.4(COL1A2):c.531A>C (p.Lys177Asn)
|
|
|
|
NM_000089.4(COL1A2):c.538_540+11del
|
|
|
|
NM_000089.4(COL1A2):c.540+19C>G
|
rs764155573
|
|
|
NM_000089.4(COL1A2):c.540+5G>A
|
rs72656367
|
|
|
NM_000089.4(COL1A2):c.540+7A>C
|
|
|
|
NM_000089.4(COL1A2):c.540+8C>T
|
rs1064797337
|
|
|
NM_000089.4(COL1A2):c.540+9A>G
|
|
|
|
NM_000089.4(COL1A2):c.541-9T>C
|
|
|
|
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)
|
rs1791793058
|
|
|
NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu)
|
|
|
|
NM_000089.4(COL1A2):c.555G>A (p.Leu185=)
|
|
|
|
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu)
|
rs72656369
|
|
|
NM_000089.4(COL1A2):c.569G>T (p.Gly190Val)
|
|
|
|
NM_000089.4(COL1A2):c.576C>G (p.Pro192=)
|
rs140656978
|
|
|
NM_000089.4(COL1A2):c.576C>T (p.Pro192=)
|
|
|
|
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)
|
rs72656370
|
|
|
NM_000089.4(COL1A2):c.577G>C (p.Gly193Arg)
|
|
|
|
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)
|
|
|
|
NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser)
|
rs1057517953
|
|
|
NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg)
|
|
|
|
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)
|
rs1057517953
|
|
|
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)
|
|
|
|
NM_000089.4(COL1A2):c.587G>T (p.Gly196Val)
|
|
|
|
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)
|
|
|
|
NM_000089.4(COL1A2):c.594+11A>T
|
|
|
|
NM_000089.4(COL1A2):c.594+15A>G
|
rs1791795919
|
|
|
NM_000089.4(COL1A2):c.594+1G>T
|
rs2115881240
|
|
|
NM_000089.4(COL1A2):c.595-14C>T
|
|
|
|
NM_000089.4(COL1A2):c.595-2A>G
|
rs72656375
|
|
|
NM_000089.4(COL1A2):c.595-5T>C
|
|
|
|
NM_000089.4(COL1A2):c.595-5T>G
|
|
|
|
NM_000089.4(COL1A2):c.597T>C (p.Gly199=)
|
|
|
|
NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp)
|
rs72656377
|
|
|
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)
|
rs72656377
|
|
|
NM_000089.4(COL1A2):c.612T>G (p.Pro204=)
|
rs2115886810
|
|
|
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
|
|
|
|
NM_000089.4(COL1A2):c.621T>C (p.Asn207=)
|
|
|
|
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)
|
rs72656378
|
|
|
NM_000089.4(COL1A2):c.635A>C (p.Gln212Pro)
|
|
|
|
NM_000089.4(COL1A2):c.639+3A>G
|
rs2115886901
|
|
|
NM_000089.4(COL1A2):c.639+4A>T
|
|
|
|
NM_000089.4(COL1A2):c.639+4_639+7del
|
|
|
|
NM_000089.4(COL1A2):c.639A>G (p.Thr213=)
|
rs1015392105
|
|
|
NM_000089.4(COL1A2):c.653T>G (p.Leu218Arg)
|
|
|
|
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)
|
|
|
|
NM_000089.4(COL1A2):c.665G>C (p.Arg222Thr)
|
|
|
|
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)
|
rs193922173
|
|
|
NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)
|
|
|
|
NM_000089.4(COL1A2):c.681C>G (p.Ala227=)
|
rs1791843396
|
|
|
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)
|
|
|
|
NM_000089.4(COL1A2):c.693+1G>A
|
|
|
|
NM_000089.4(COL1A2):c.693+1G>C
|
rs72656381
|
|
|
NM_000089.4(COL1A2):c.693+2T>C
|
rs66516450
|
|
|
NM_000089.4(COL1A2):c.693+2dup
|
rs2115888133
|
|
|
NM_000089.4(COL1A2):c.693+5G>A
|
|
|
|
NM_000089.4(COL1A2):c.693+6T>G
|
rs2115888140
|
|
|
NM_000089.4(COL1A2):c.694-10T>G
|
|
|
|
NM_000089.4(COL1A2):c.694-1G>C
|
|
|
|
NM_000089.4(COL1A2):c.694-5C>T
|
|
|
|
NM_000089.4(COL1A2):c.70+18G>A
|
|
|
|
NM_000089.4(COL1A2):c.70+717A>G
|
rs72656354
|
|
|
NM_000089.4(COL1A2):c.70+8C>A
|
|
|
|
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)
|
|
|
|
NM_000089.4(COL1A2):c.709G>A (p.Asp237Asn)
|
|
|
|
NM_000089.4(COL1A2):c.71-10_71-9insC
|
|
|
|
NM_000089.4(COL1A2):c.71-11T>C
|
|
|
|
NM_000089.4(COL1A2):c.71-7del
|
rs144776919
|
|
|
NM_000089.4(COL1A2):c.71-7dup
|
rs144776919
|
|
|
NM_000089.4(COL1A2):c.71-8_71-7dup
|
rs144776919
|
|
|
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)
|
|
|
|
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
|
|
|
|
NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)
|
|
|
|
NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys)
|
rs763546006
|
|
|
NM_000089.4(COL1A2):c.731G>A (p.Gly244Asp)
|
rs1584318303
|
|
|
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)
|
rs1584318303
|
|
|
NM_000089.4(COL1A2):c.738+12C>T
|
|
|
|
NM_000089.4(COL1A2):c.738+17_738+19del
|
|
|
|
NM_000089.4(COL1A2):c.739-19C>T
|
|
|
|
NM_000089.4(COL1A2):c.739-3C>T
|
|
|
|
NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)
|
|
|
|
NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg)
|
|
|
|
NM_000089.4(COL1A2):c.741T>C (p.Gly247=)
|
rs1584318604
|
|
|
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)
|
rs1562900513
|
|
|
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)
|
rs67525025
|
|
|
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)
|
rs67525025
|
|
|
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)
|
rs1584318648
|
|
|
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val)
|
rs1584318648
|
|
|
NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)
|
|
|
|
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val)
|
rs1554395967
|
|
|
NM_000089.4(COL1A2):c.781C>G (p.Pro261Ala)
|
rs141075408
|
|
|
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)
|
rs1554395970
|
|
|
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)
|
rs1791858238
|
|
|
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
|
|
|
|
NM_000089.4(COL1A2):c.792+6A>C
|
|
|
|
NM_000089.4(COL1A2):c.792G>A (p.Lys264=)
|
rs2115890442
|
|
|
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)
|
rs2115890442
|
|
|
NM_000089.4(COL1A2):c.793-20G>C
|
rs770146997
|
|
|
NM_000089.4(COL1A2):c.793-8T>A
|
|
|
|
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)
|
rs1114167417
|
|
|
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)
|
rs72656386
|
|
|
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val)
|
rs72656386
|
|
|
NM_000089.4(COL1A2):c.795T>A (p.Gly265=)
|
|
|
|
NM_000089.4(COL1A2):c.798A>C (p.Glu266Asp)
|
|
|
|
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)
|
|
|
|
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del)
|
rs1584318956
|
|
|
NM_000089.4(COL1A2):c.81+10A>C
|
rs750283092
|
|
|
NM_000089.4(COL1A2):c.81+11del
|
rs193922174
|
|
|
NM_000089.4(COL1A2):c.81+12T>A
|
|
|
|
NM_000089.4(COL1A2):c.81+17_81+18del
|
rs1791612191
|
|
|
NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)
|
|
|
|
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)
|
|
|
|
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp)
|
rs2115851777
|
|
|
NM_000089.4(COL1A2):c.82-17G>C
|
|
|
|
NM_000089.4(COL1A2):c.82-6T>C
|
|
|
|
NM_000089.4(COL1A2):c.821G>A (p.Gly274Asp)
|
rs67675951
|
|
|
NM_000089.4(COL1A2):c.822T>C (p.Gly274=)
|
|
|
|
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)
|
|
|
|
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys)
|
rs1479695906
|
|
|
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)
|
rs752431578
|
|
|
NM_000089.4(COL1A2):c.832C>G (p.Pro278Ala)
|
|
|
|
NM_000089.4(COL1A2):c.833C>T (p.Pro278Leu)
|
rs2115892207
|
|
|
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro)
|
rs374616916
|
|
|
NM_000089.4(COL1A2):c.836C>G (p.Ala279Gly)
|
|
|
|
NM_000089.4(COL1A2):c.837C>T (p.Ala279=)
|
|
|
|
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)
|
|
|
|
NM_000089.4(COL1A2):c.839G>C (p.Gly280Ala)
|
|
|
|
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
|
|
|
|
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)
|
|
|
|
NM_000089.4(COL1A2):c.855G>A (p.Val285=)
|
|
|
|
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)
|
rs1114167418
|
|
|
NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys)
|
|
|
|
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala)
|
rs67210352
|
|
|
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs)
|
rs1584319045
|
|
|
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)
|
rs906553840
|
|
|
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)
|
rs906553840
|
|
|
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)
|
rs906553840
|
|
|
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)
|
rs1131692167
|
|
|
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile)
|
rs145693444
|
|
|
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)
|
rs145693444
|
|
|
NM_000089.4(COL1A2):c.885A>G (p.Gly295=)
|
|
|
|
NM_000089.4(COL1A2):c.887C>A (p.Pro296His)
|
|
|
|
NM_000089.4(COL1A2):c.888T>G (p.Pro296=)
|
rs1554396039
|
|
|
NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)
|
|
|
|
NM_000089.4(COL1A2):c.891+11A>G
|
|
|
|
NM_000089.4(COL1A2):c.891+4A>G
|
|
|
|
NM_000089.4(COL1A2):c.891T>G (p.Pro297=)
|
|
|
|
NM_000089.4(COL1A2):c.892-15T>A
|
|
|
|
NM_000089.4(COL1A2):c.892-4A>G
|
rs749567968
|
|
|
NM_000089.4(COL1A2):c.892-7C>T
|
|
|
|
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)
|
rs72656389
|
|
|
NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)
|
|
|
|
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr)
|
rs2115893108
|
|
|
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)
|
|
|
|
NM_000089.4(COL1A2):c.900T>C (p.Pro300=)
|
|
|
|
NM_000089.4(COL1A2):c.901G>A (p.Gly301Arg)
|
rs2115893133
|
|
|
NM_000089.4(COL1A2):c.90A>G (p.Val30=)
|
rs766090050
|
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
|
|
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp)
|
rs72656390
|
|
|
NM_000089.4(COL1A2):c.921T>C (p.Gly307=)
|
rs2115893209
|
|
|
NM_000089.4(COL1A2):c.929G>T (p.Gly310Val)
|
|
|
|
NM_000089.4(COL1A2):c.936+10C>T
|
|
|
|
NM_000089.4(COL1A2):c.936+15G>A
|
|
|
|
NM_000089.4(COL1A2):c.937-10T>C
|
|
|
|
NM_000089.4(COL1A2):c.937-19A>G
|
rs779693879
|
|
|
NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys)
|
|
|
|
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)
|
rs1554396083
|
|
|
NM_000089.4(COL1A2):c.96+15C>T
|
|
|
|
NM_000089.4(COL1A2):c.96+20C>A
|
|
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
|
NM_000089.4(COL1A2):c.966C>T (p.Gly322=)
|
|
|
|
NM_000089.4(COL1A2):c.97-11C>A
|
rs1791635232
|
|
|
NM_000089.4(COL1A2):c.97-5T>C
|
|
|
|
NM_000089.4(COL1A2):c.97-7C>T
|
|
|
|
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser)
|
rs2115894024
|
|
|
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
|
|
|
|
NM_000089.4(COL1A2):c.974G>T (p.Gly325Val)
|
|
|
|
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr)
|
rs1791879479
|
|
|
NM_000089.4(COL1A2):c.978C>G (p.Pro326=)
|
|
|
|
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)
|
|
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
|
NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)
|
|
|
|
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)
|
|
|
|
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
|
|
|
|
NM_000090.3(COL3A1):c.1610delG
|
rs587779702
|
|
|
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer)
|
rs587779510
|
|
|
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
|
|
|
|
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
|
|
|
|
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
|
|
|
|
NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]
|
|
|
|
NM_000090.4(COL3A1):c.*113C>T
|
rs886055336
|
|
|
NM_000090.4(COL3A1):c.*317C>A
|
rs886055337
|
|
|
NM_000090.4(COL3A1):c.*325C>A
|
rs886055338
|
|
|
NM_000090.4(COL3A1):c.*354C>T
|
rs41265555
|
|
|
NM_000090.4(COL3A1):c.*370A>G
|
rs886055339
|
|
|
NM_000090.4(COL3A1):c.*371G>T
|
rs886055340
|
|
|
NM_000090.4(COL3A1):c.*413T>A
|
rs1027214857
|
|
|
NM_000090.4(COL3A1):c.*508T>C
|
rs1688745206
|
|
|
NM_000090.4(COL3A1):c.*600G>T
|
rs1688747004
|
|
|
NM_000090.4(COL3A1):c.*625C>T
|
rs886055342
|
|
|
NM_000090.4(COL3A1):c.*692G>A
|
rs886055343
|
|
|
NM_000090.4(COL3A1):c.*906C>G
|
rs1306575962
|
|
|
NM_000090.4(COL3A1):c.*947C>T
|
rs886055345
|
|
|
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1013C>T (p.Pro338Leu)
|
rs2153502229
|
|
|
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp)
|
rs1688217809
|
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
|
NM_000090.4(COL3A1):c.1029C>G (p.Phe343Leu)
|
rs1688218053
|
|
|
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=)
|
rs1688218162
|
|
|
NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg)
|
rs587779419
|
|
|
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile)
|
rs368703012
|
|
|
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)
|
rs1688218490
|
|
|
NM_000090.4(COL3A1):c.1050+12T>G
|
|
|
|
NM_000090.4(COL3A1):c.1050+7A>G
|
rs950435405
|
|
|
NM_000090.4(COL3A1):c.1051-14G>C
|
|
|
|
NM_000090.4(COL3A1):c.1051-1G>C
|
rs866316633
|
|
|
NM_000090.4(COL3A1):c.1051-8A>G
|
|
|
|
NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser)
|
rs2153502271
|
|
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
|
NM_000090.4(COL3A1):c.1064C>A (p.Pro355His)
|
|
|
|
NM_000090.4(COL3A1):c.1068A>G (p.Ala356=)
|
rs2153502276
|
|
|
NM_000090.4(COL3A1):c.1069_1070insACCCTGCAG (p.Ala356_Gly357insAspProAla)
|
rs587779579
|
|
|
NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu)
|
rs2153502277
|
|
|
NM_000090.4(COL3A1):c.1072T>C (p.Ser358Pro)
|
|
|
|
NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val)
|
|
|
|
NM_000090.4(COL3A1):c.1086T>C (p.Asn362=)
|
rs1576464711
|
|
|
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser)
|
rs587779499
|
|
|
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg)
|
rs1464219199
|
|
|
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=)
|
|
|
|
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)
|
rs587779696
|
|
|
NM_000090.4(COL3A1):c.1100_1117del (p.Gln367_Gly372del)
|
rs587779525
|
|
|
NM_000090.4(COL3A1):c.1103G>C (p.Arg368Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del)
|
rs587779686
|
|
|
NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg)
|
rs868138294
|
|
|
NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu)
|
rs1060500205
|
|
|
NM_000090.4(COL3A1):c.1115G>T (p.Gly372Val)
|
rs587779547
|
|
|
NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla)
|
|
|
|
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=)
|
|
|
|
NM_000090.4(COL3A1):c.111G>C (p.Gln37His)
|
rs2153501346
|
|
|
NM_000090.4(COL3A1):c.1124G>A (p.Gly375Glu)
|
rs587779569
|
|
|
NM_000090.4(COL3A1):c.1128C>A (p.His376Gln)
|
|
|
|
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)
|
rs1688231067
|
|
|
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg)
|
rs1688231206
|
|
|
NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp)
|
rs587779544
|
|
|
NM_000090.4(COL3A1):c.1149+11T>C
|
|
|
|
NM_000090.4(COL3A1):c.1149+1G>A
|
rs587779443
|
|
|
NM_000090.4(COL3A1):c.1149+1G>T
|
rs587779443
|
|
|
NM_000090.4(COL3A1):c.1149+5G>A
|
rs587779538
|
|
|
NM_000090.4(COL3A1):c.1149+7A>G
|
rs1688231707
|
|
|
NM_000090.4(COL3A1):c.114C>T (p.Ser38=)
|
rs141241764
|
|
|
NM_000090.4(COL3A1):c.1150-11del
|
|
|
|
NM_000090.4(COL3A1):c.1150-1G>C
|
rs587779520
|
|
|
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
|
rs587779612
|
|
|
NM_000090.4(COL3A1):c.1150-4T>C
|
|
|
|
NM_000090.4(COL3A1):c.1150-9TA[3]
|
|
|
|
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=)
|
rs1688243975
|
|
|
NM_000090.4(COL3A1):c.1154C>T (p.Pro385Leu)
|
|
|
|
NM_000090.4(COL3A1):c.1158T>C (p.Pro386=)
|
|
|
|
NM_000090.4(COL3A1):c.1161G>A (p.Gly387=)
|
rs2153502344
|
|
|
NM_000090.4(COL3A1):c.1164T>C (p.Ile388=)
|
rs2153502345
|
|
|
NM_000090.4(COL3A1):c.1173del (p.Pro392fs)
|
rs1553507863
|
|
|
NM_000090.4(COL3A1):c.1179T>C (p.Gly393=)
|
|
|
|
NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter)
|
rs187907868
|
|
|
NM_000090.4(COL3A1):c.1189_1194+23del
|
rs587779430
|
|
|
NM_000090.4(COL3A1):c.1194+15C>G
|
|
|
|
NM_000090.4(COL3A1):c.1194+16T>G
|
|
|
|
NM_000090.4(COL3A1):c.1194+1G>A
|
rs587779459
|
|
|
NM_000090.4(COL3A1):c.1194+1G>C
|
rs587779459
|
|
|
NM_000090.4(COL3A1):c.1195-13G>A
|
|
|
|
NM_000090.4(COL3A1):c.1195-20T>G
|
|
|
|
NM_000090.4(COL3A1):c.1195-5C>T
|
|
|
|
NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala)
|
rs1060500194
|
|
|
NM_000090.4(COL3A1):c.1197T>A (p.Gly399=)
|
|
|
|
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser)
|
rs1229093142
|
|
|
NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly)
|
rs201380807
|
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
|
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro)
|
rs373858715
|
|
|
NM_000090.4(COL3A1):c.1213G>A (p.Gly405Arg)
|
|
|
|
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)
|
rs794728035
|
|
|
NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val)
|
rs794728043
|
|
|
NM_000090.4(COL3A1):c.1224A>C (p.Gly408=)
|
rs2153502371
|
|
|
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val)
|
rs1026603456
|
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
|
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val)
|
rs1057519250
|
|
|
NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp)
|
|
|
|
NM_000090.4(COL3A1):c.1239G>A (p.Arg413=)
|
rs769162177
|
|
|
NM_000090.4(COL3A1):c.123T>C (p.Asp41=)
|
rs770961095
|
|
|
NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1240G>T (p.Gly414Cys)
|
rs587779485
|
|
|
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)
|
rs794728044
|
|
|
NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val)
|
rs794728044
|
|
|
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His)
|
rs1408351089
|
|
|
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg)
|
rs587779637
|
|
|
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)
|
rs587779637
|
|
|
NM_000090.4(COL3A1):c.1254A>G (p.Pro418=)
|
rs2153502381
|
|
|
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=)
|
|
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
|
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser)
|
rs587779631
|
|
|
NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp)
|
rs587779586
|
|
|
NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu)
|
rs2153502383
|
|
|
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=)
|
rs750476636
|
|
|
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)
|
rs1576465155
|
|
|
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)
|
rs1559056179
|
|
|
NM_000090.4(COL3A1):c.1293+13G>C
|
|
|
|
NM_000090.4(COL3A1):c.1293+19T>A
|
|
|
|
NM_000090.4(COL3A1):c.1294-12G>A
|
|
|
|
NM_000090.4(COL3A1):c.1294-12G>T
|
|
|
|
NM_000090.4(COL3A1):c.1294-13del
|
|
|
|
NM_000090.4(COL3A1):c.1294-1G>C
|
rs1060500204
|
|
|
NM_000090.4(COL3A1):c.1294-3T>G
|
rs587779496
|
|
|
NM_000090.4(COL3A1):c.1294-8T>A
|
|
|
|
NM_000090.4(COL3A1):c.1294-8_1294-2dup
|
rs1688258466
|
|
|
NM_000090.4(COL3A1):c.1294-9A>G
|
|
|
|
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
|
rs1688258933
|
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
|
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)
|
rs886038952
|
|
|
NM_000090.4(COL3A1):c.1311T>C (p.Asn437=)
|
|
|
|
NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp)
|
rs2153502405
|
|
|
NM_000090.4(COL3A1):c.1316C>T (p.Ala439Val)
|
|
|
|
NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu)
|
rs2153502406
|
|
|
NM_000090.4(COL3A1):c.1322del (p.Gly441fs)
|
rs1688259777
|
|
|
NM_000090.4(COL3A1):c.1329C>A (p.Pro443=)
|
rs527291598
|
|
|
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=)
|
rs527291598
|
|
|
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg)
|
rs587779489
|
|
|
NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg)
|
rs587779489
|
|
|
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu)
|
rs1243746897
|
|
|
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=)
|
rs1193108024
|
|
|
NM_000090.4(COL3A1):c.1336C>T (p.Arg446Cys)
|
rs1238066761
|
|
|
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His)
|
rs149852181
|
|
|
NM_000090.4(COL3A1):c.1342G>A (p.Glu448Lys)
|
rs1553507955
|
|
|
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1347+10A>T
|
|
|
|
NM_000090.4(COL3A1):c.1347+11C>G
|
rs2153502413
|
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
|
NM_000090.4(COL3A1):c.1347+1G>T
|
rs397509370
|
|
|
NM_000090.4(COL3A1):c.1347+3A>C
|
rs587779453
|
|
|
NM_000090.4(COL3A1):c.1347+5G>C
|
rs587779721
|
|
|
NM_000090.4(COL3A1):c.1347C>G (p.Arg449=)
|
|
|
|
NM_000090.4(COL3A1):c.1348-10T>G
|
rs2153502430
|
|
|
NM_000090.4(COL3A1):c.1348-15T>A
|
|
|
|
NM_000090.4(COL3A1):c.1348-16del
|
|
|
|
NM_000090.4(COL3A1):c.1348-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.1348-4dup
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.1348-5T>C
|
rs2153502431
|
|
|
NM_000090.4(COL3A1):c.1348-5_1348-4del
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.1348-5_1348-4dup
|
|
|
|
NM_000090.4(COL3A1):c.1348-8T>A
|
|
|
|
NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter)
|
rs1559052609
|
|
|
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)
|
rs1559056438
|
|
|
NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys)
|
rs2153502433
|
|
|
NM_000090.4(COL3A1):c.1358G>A (p.Gly453Asp)
|
rs587779621
|
|
|
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=)
|
rs1232746183
|
|
|
NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1383A>G (p.Lys461=)
|
rs2153502436
|
|
|
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)
|
rs587779633
|
|
|
NM_000090.4(COL3A1):c.1386C>T (p.Gly462=)
|
|
|
|
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys)
|
rs2153502439
|
|
|
NM_000090.4(COL3A1):c.1389A>C (p.Glu463Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1410del (p.Gly471fs)
|
rs587779665
|
|
|
NM_000090.4(COL3A1):c.1412G>A (p.Gly471Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1425A>T (p.Ala475=)
|
|
|
|
NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp)
|
rs2153502447
|
|
|
NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu)
|
rs2153502448
|
|
|
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser)
|
rs1425504057
|
|
|
NM_000090.4(COL3A1):c.1438G>A (p.Gly480Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1442del (p.Ala481fs)
|
rs1688268302
|
|
|
NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1455+12A>C
|
|
|
|
NM_000090.4(COL3A1):c.1455+12A>T
|
|
|
|
NM_000090.4(COL3A1):c.1455+18C>A
|
|
|
|
NM_000090.4(COL3A1):c.1455+4C>T
|
rs1422454033
|
|
|
NM_000090.4(COL3A1):c.1455+5G>A
|
rs774425143
|
|
|
NM_000090.4(COL3A1):c.1456-10T>G
|
rs587779701
|
|
|
NM_000090.4(COL3A1):c.1456-13_1499del
|
rs1553508025
|
|
|
NM_000090.4(COL3A1):c.1456-15T>G
|
rs1688273707
|
|
|
NM_000090.4(COL3A1):c.1456-16C>G
|
rs748670622
|
|
|
NM_000090.4(COL3A1):c.1456-82_1977+177del
|
|
|
|
NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp)
|
rs1688274077
|
|
|
NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)
|
rs1234344050
|
|
|
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)
|
rs747522483
|
|
|
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu)
|
rs587779476
|
|
|
NM_000090.4(COL3A1):c.1470C>T (p.Phe490=)
|
|
|
|
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)
|
rs1057518075
|
|
|
NM_000090.4(COL3A1):c.1475G>A (p.Gly492Glu)
|
rs587779500
|
|
|
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val)
|
rs587779500
|
|
|
NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu)
|
rs1057524653
|
|
|
NM_000090.4(COL3A1):c.1486C>T (p.Pro496Ser)
|
|
|
|
NM_000090.4(COL3A1):c.149G>C (p.Cys50Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1500A>G (p.Pro500=)
|
|
|
|
NM_000090.4(COL3A1):c.1501G>A (p.Gly501Arg)
|
rs587779523
|
|
|
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu)
|
rs1559056621
|
|
|
NM_000090.4(COL3A1):c.1509+18C>A
|
|
|
|
NM_000090.4(COL3A1):c.1509+5A>G
|
rs572863064
|
|
|
NM_000090.4(COL3A1):c.1509+7_1509+21del
|
rs781662866
|
|
|
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1510-10C>T
|
|
|
|
NM_000090.4(COL3A1):c.1510-12T>C
|
|
|
|
NM_000090.4(COL3A1):c.1510-4T>C
|
rs529479786
|
|
|
NM_000090.4(COL3A1):c.1511G>T (p.Gly504Val)
|
rs587779632
|
|
|
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
|
|
|
|
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr)
|
rs926106259
|
|
|
NM_000090.4(COL3A1):c.1531G>C (p.Ala511Pro)
|
|
|
|
NM_000090.4(COL3A1):c.153A>G (p.Gln51=)
|
|
|
|
NM_000090.4(COL3A1):c.1541C>A (p.Pro514His)
|
|
|
|
NM_000090.4(COL3A1):c.1548G>A (p.Gly516=)
|
rs765885725
|
|
|
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs)
|
rs2153502552
|
|
|
NM_000090.4(COL3A1):c.1550C>A (p.Pro517His)
|
rs142085247
|
|
|
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
|
rs142085247
|
|
|
NM_000090.4(COL3A1):c.1556G>A (p.Gly519Glu)
|
rs587779693
|
|
|
NM_000090.4(COL3A1):c.156A>G (p.Ile52Met)
|
|
|
|
NM_000090.4(COL3A1):c.1587C>T (p.Val529=)
|
rs1688293092
|
|
|
NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1602A>C (p.Gly534=)
|
|
|
|
NM_000090.4(COL3A1):c.1608+12C>T
|
|
|
|
NM_000090.4(COL3A1):c.1608+13A>G
|
|
|
|
NM_000090.4(COL3A1):c.1608+20T>G
|
|
|
|
NM_000090.4(COL3A1):c.1608+6G>C
|
rs1688293957
|
|
|
NM_000090.4(COL3A1):c.1609-14C>G
|
rs1243909889
|
|
|
NM_000090.4(COL3A1):c.1609-2A>C
|
rs2153502611
|
|
|
NM_000090.4(COL3A1):c.1617C>A (p.Pro539=)
|
rs141091206
|
|
|
NM_000090.4(COL3A1):c.1617C>G (p.Pro539=)
|
rs141091206
|
|
|
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg)
|
rs587779584
|
|
|
NM_000090.4(COL3A1):c.1636G>A (p.Gly546Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu)
|
rs587779679
|
|
|
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg)
|
rs868705044
|
|
|
NM_000090.4(COL3A1):c.1652del (p.Pro551fs)
|
rs1060500199
|
|
|
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg)
|
rs1688305296
|
|
|
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu)
|
rs121912928
|
|
|
NM_000090.4(COL3A1):c.1658C>T (p.Pro553Leu)
|
rs1330285574
|
|
|
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu)
|
rs1688305869
|
|
|
NM_000090.4(COL3A1):c.1662+14T>A
|
rs910613076
|
|
|
NM_000090.4(COL3A1):c.1662+16A>C
|
|
|
|
NM_000090.4(COL3A1):c.1662+1G>A
|
rs587779535
|
|
|
NM_000090.4(COL3A1):c.1662+1G>C
|
rs587779535
|
|
|
NM_000090.4(COL3A1):c.1662+1G>T
|
rs587779535
|
|
|
NM_000090.4(COL3A1):c.1662+20C>A
|
|
|
|
NM_000090.4(COL3A1):c.1662+2dup
|
rs587779537
|
|
|
NM_000090.4(COL3A1):c.1662+4T>C
|
rs1319321003
|
|
|
NM_000090.4(COL3A1):c.1662+4T>G
|
rs1319321003
|
|
|
NM_000090.4(COL3A1):c.1662C>G (p.Pro554=)
|
rs373963384
|
|
|
NM_000090.4(COL3A1):c.1663-13T>G
|
|
|
|
NM_000090.4(COL3A1):c.1663-15A>C
|
rs2153502677
|
|
|
NM_000090.4(COL3A1):c.1663-19T>A
|
|
|
|
NM_000090.4(COL3A1):c.1663-19T>C
|
|
|
|
NM_000090.4(COL3A1):c.1663-1G>A
|
rs749145939
|
|
|
NM_000090.4(COL3A1):c.1663-1G>T
|
|
|
|
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA
|
rs200204993
|
|
|
NM_000090.4(COL3A1):c.1663G>A (p.Gly555Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn)
|
rs1688319466
|
|
|
NM_000090.4(COL3A1):c.1667G>T (p.Ser556Ile)
|
|
|
|
NM_000090.4(COL3A1):c.166G>A (p.Asp56Asn)
|
|
|
|
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)
|
rs375737772
|
|
|
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1701G>T (p.Gly567=)
|
|
|
|
NM_000090.4(COL3A1):c.1701_2392-342del
|
|
|
|
NM_000090.4(COL3A1):c.1706C>G (p.Ser569Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser)
|
rs1553508238
|
|
|
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp)
|
rs2153502685
|
|
|
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1718G>A (p.Gly573Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1725T>G (p.Pro575=)
|
|
|
|
NM_000090.4(COL3A1):c.1728T>G (p.Gly576=)
|
|
|
|
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1740C>T (p.Phe580=)
|
rs2153502690
|
|
|
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)
|
rs121912923
|
|
|
NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg)
|
rs121912923
|
|
|
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys)
|
rs121912923
|
|
|
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp)
|
rs1688322272
|
|
|
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val)
|
rs2153502692
|
|
|
NM_000090.4(COL3A1):c.1761+13A>G
|
|
|
|
NM_000090.4(COL3A1):c.1761+15_1870-100del
|
|
|
|
NM_000090.4(COL3A1):c.1761+16A>G
|
rs368540657
|
|
|
NM_000090.4(COL3A1):c.1761+1G>A
|
rs1688322811
|
|
|
NM_000090.4(COL3A1):c.1761+2T>C
|
rs587779530
|
|
|
NM_000090.4(COL3A1):c.1761+2T>G
|
rs587779530
|
|
|
NM_000090.4(COL3A1):c.1761+4_1761+5del
|
rs1559057346
|
|
|
NM_000090.4(COL3A1):c.1761+5G>A
|
rs397509372
|
|
|
NM_000090.4(COL3A1):c.1761+5G>T
|
rs397509372
|
|
|
NM_000090.4(COL3A1):c.1761+7T>A
|
|
|
|
NM_000090.4(COL3A1):c.1761+8C>T
|
|
|
|
NM_000090.4(COL3A1):c.1761+9C>G
|
|
|
|
NM_000090.4(COL3A1):c.1762-11T>G
|
rs761637298
|
|
|
NM_000090.4(COL3A1):c.1762-12C>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-12CTT[2]
|
|
|
|
NM_000090.4(COL3A1):c.1762-12CTT[5]
|
|
|
|
NM_000090.4(COL3A1):c.1762-13A>G
|
rs776161087
|
|
|
NM_000090.4(COL3A1):c.1762-14C>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-16A>G
|
|
|
|
NM_000090.4(COL3A1):c.1762-18C>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-1G>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-2A>G
|
rs587779722
|
|
|
NM_000090.4(COL3A1):c.1762-3T>C
|
|
|
|
NM_000090.4(COL3A1):c.1762-6C>T
|
rs2153502785
|
|
|
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)
|
rs1553508338
|
|
|
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)
|
rs587779691
|
|
|
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val)
|
rs587779691
|
|
|
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr)
|
rs1327158014
|
|
|
NM_000090.4(COL3A1):c.1771G>T (p.Gly591Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1773dup (p.Lys592Ter)
|
rs587779608
|
|
|
NM_000090.4(COL3A1):c.1778A>T (p.Asn593Ile)
|
|
|
|
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)
|
rs587779527
|
|
|
NM_000090.4(COL3A1):c.1789G>A (p.Gly597Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala)
|
rs35795890
|
|
|
NM_000090.4(COL3A1):c.1806T>A (p.Pro602=)
|
rs2153502789
|
|
|
NM_000090.4(COL3A1):c.1808G>A (p.Gly603Asp)
|
rs587779477
|
|
|
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val)
|
rs587779477
|
|
|
NM_000090.4(COL3A1):c.1808del (p.Gly603fs)
|
rs587779594
|
|
|
NM_000090.4(COL3A1):c.1815+6T>C
|
rs1688347657
|
|
|
NM_000090.4(COL3A1):c.1816-14G>A
|
rs7579815
|
|
|
NM_000090.4(COL3A1):c.1816-15T>G
|
|
|
|
NM_000090.4(COL3A1):c.1816-17A>T
|
|
|
|
NM_000090.4(COL3A1):c.1816-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.1816G>C (p.Gly606Arg)
|
rs587779613
|
|
|
NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys)
|
|
|
|
NM_000090.4(COL3A1):c.181del (p.Leu61fs)
|
rs2153501353
|
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
|
NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs)
|
rs587779462
|
|
|
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser)
|
rs2153502803
|
|
|
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=)
|
rs1576467117
|
|
|
NM_000090.4(COL3A1):c.1840A>G (p.Thr614Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu)
|
rs587779634
|
|
|
NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
|
rs1576467133
|
|
|
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1857C>T (p.Pro619=)
|
|
|
|
NM_000090.4(COL3A1):c.1859del (p.Pro620fs)
|
rs1576467144
|
|
|
NM_000090.4(COL3A1):c.1860A>G (p.Pro620=)
|
rs141128796
|
|
|
NM_000090.4(COL3A1):c.1861G>C (p.Gly621Arg)
|
rs587779616
|
|
|
NM_000090.4(COL3A1):c.1861G>T (p.Gly621Trp)
|
rs587779616
|
|
|
NM_000090.4(COL3A1):c.1862G>A (p.Gly621Glu)
|
rs587779539
|
|
|
NM_000090.4(COL3A1):c.1862G>T (p.Gly621Val)
|
rs587779539
|
|
|
NM_000090.4(COL3A1):c.1865C>T (p.Pro622Leu)
|
|
|
|
NM_000090.4(COL3A1):c.1869+13A>T
|
|
|
|
NM_000090.4(COL3A1):c.1869+1G>C
|
rs587779600
|
|
|
NM_000090.4(COL3A1):c.1869+3A>C
|
rs1576467168
|
|
|
NM_000090.4(COL3A1):c.1869+5G>A
|
rs397509376
|
|
|
NM_000090.4(COL3A1):c.1869+5G>T
|
rs397509376
|
|
|
NM_000090.4(COL3A1):c.1869+9A>C
|
|
|
|
NM_000090.4(COL3A1):c.1870-12A>G
|
rs1231508385
|
|
|
NM_000090.4(COL3A1):c.1870-13_1870-11del
|
rs1312775368
|
|
|
NM_000090.4(COL3A1):c.1870-18A>G
|
rs2153502834
|
|
|
NM_000090.4(COL3A1):c.1870-20G>A
|
|
|
|
NM_000090.4(COL3A1):c.1870-2A>G
|
rs587779575
|
|
|
NM_000090.4(COL3A1):c.1870-2A>T
|
rs587779575
|
|
|
NM_000090.4(COL3A1):c.1870-9C>T
|
rs777339506
|
|
|
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu)
|
rs1553508463
|
|
|
NM_000090.4(COL3A1):c.1872G>C (p.Gly624=)
|
|
|
|
NM_000090.4(COL3A1):c.1873C>G (p.Pro625Ala)
|
|
|
|
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn)
|
rs1688031625
|
|
|
NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg)
|
rs1553508467
|
|
|
NM_000090.4(COL3A1):c.1891G>A (p.Asp631Asn)
|
rs1688361531
|
|
|
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
|
rs769039976
|
|
|
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg)
|
rs1553508473
|
|
|
NM_000090.4(COL3A1):c.1898G>A (p.Gly633Glu)
|
rs587779611
|
|
|
NM_000090.4(COL3A1):c.18A>C (p.Gln6His)
|
|
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
|
NM_000090.4(COL3A1):c.1905T>C (p.Pro635=)
|
|
|
|
NM_000090.4(COL3A1):c.1905del (p.Gly636fs)
|
|
|
|
NM_000090.4(COL3A1):c.1906G>C (p.Gly636Arg)
|
rs587779522
|
|
|
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs)
|
rs1576467391
|
|
|
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg)
|
rs587779435
|
|
|
NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg)
|
rs587779435
|
|
|
NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu)
|
rs587779421
|
|
|
NM_000090.4(COL3A1):c.1923+1G>A
|
rs587779573
|
|
|
NM_000090.4(COL3A1):c.1923+1G>C
|
rs587779573
|
|
|
NM_000090.4(COL3A1):c.1923+2_1923+5del
|
rs786200946
|
|
|
NM_000090.4(COL3A1):c.1923+9T>C
|
|
|
|
NM_000090.4(COL3A1):c.1924-13_1924-2del
|
|
|
|
NM_000090.4(COL3A1):c.1924-14A>T
|
|
|
|
NM_000090.4(COL3A1):c.1924-8C>A
|
rs1553508534
|
|
|
NM_000090.4(COL3A1):c.1925G>T (p.Gly642Val)
|
rs587779661
|
|
|
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=)
|
|
|
|
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
|
rs1440480352
|
|
|
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)
|
rs587779620
|
|
|
NM_000090.4(COL3A1):c.1967C>G (p.Pro656Arg)
|
|
|
|
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)
|
rs2153501357
|
|
|
NM_000090.4(COL3A1):c.1970G>A (p.Gly657Glu)
|
rs587779699
|
|
|
NM_000090.4(COL3A1):c.1971G>A (p.Gly657=)
|
|
|
|
NM_000090.4(COL3A1):c.1974A>G (p.Glu658=)
|
|
|
|
NM_000090.4(COL3A1):c.1974_1977+4del
|
rs587779475
|
|
|
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)
|
rs1064796979
|
|
|
NM_000090.4(COL3A1):c.1977+16T>A
|
|
|
|
NM_000090.4(COL3A1):c.1977+2T>G
|
rs587779603
|
|
|
NM_000090.4(COL3A1):c.1977+5G>C
|
rs1553508544
|
|
|
NM_000090.4(COL3A1):c.1977+7T>C
|
rs2153502908
|
|
|
NM_000090.4(COL3A1):c.1977+9C>G
|
rs184223621
|
|
|
NM_000090.4(COL3A1):c.1978-18A>G
|
|
|
|
NM_000090.4(COL3A1):c.1978-4C>T
|
|
|
|
NM_000090.4(COL3A1):c.1978-6_1981del
|
rs587779700
|
|
|
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser)
|
rs1688384382
|
|
|
NM_000090.4(COL3A1):c.1978G>C (p.Gly660Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp)
|
rs587779493
|
|
|
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=)
|
rs1553508597
|
|
|
NM_000090.4(COL3A1):c.1980T>C (p.Gly660=)
|
rs1553508597
|
|
|
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)
|
rs587779433
|
|
|
NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg)
|
rs587779433
|
|
|
NM_000090.4(COL3A1):c.1988G>A (p.Gly663Asp)
|
rs587779454
|
|
|
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val)
|
rs587779454
|
|
|
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)
|
rs121912921
|
|
|
NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser)
|
rs1688385247
|
|
|
NM_000090.4(COL3A1):c.1A>T (p.Met1Leu)
|
rs1687765120
|
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2021A>G (p.Lys674Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2022+10C>G
|
|
|
|
NM_000090.4(COL3A1):c.2022+10C>T
|
rs774439359
|
|
|
NM_000090.4(COL3A1):c.2022+14T>A
|
|
|
|
NM_000090.4(COL3A1):c.2022+17T>C
|
|
|
|
NM_000090.4(COL3A1):c.2022+19del
|
|
|
|
NM_000090.4(COL3A1):c.2022+2T>C
|
rs587779429
|
|
|
NM_000090.4(COL3A1):c.2022+4G>A
|
rs886038865
|
|
|
NM_000090.4(COL3A1):c.2022G>A (p.Lys674=)
|
rs587779643
|
|
|
NM_000090.4(COL3A1):c.2022G>T (p.Lys674Asn)
|
rs587779643
|
|
|
NM_000090.4(COL3A1):c.2023-17A>C
|
|
|
|
NM_000090.4(COL3A1):c.2023-17A>G
|
|
|
|
NM_000090.4(COL3A1):c.2023-1G>A
|
rs587779708
|
|
|
NM_000090.4(COL3A1):c.2023-4A>G
|
|
|
|
NM_000090.4(COL3A1):c.2023G>A (p.Gly675Ser)
|
rs2153502988
|
|
|
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val)
|
rs587779597
|
|
|
NM_000090.4(COL3A1):c.2030C>G (p.Ala677Gly)
|
rs2153502991
|
|
|
NM_000090.4(COL3A1):c.2034T>C (p.Gly678=)
|
|
|
|
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp)
|
rs1173194734
|
|
|
NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys)
|
rs2153502995
|
|
|
NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu)
|
rs587779587
|
|
|
NM_000090.4(COL3A1):c.2051G>T (p.Gly684Val)
|
rs587779587
|
|
|
NM_000090.4(COL3A1):c.2053C>T (p.Pro685Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2059G>C (p.Gly687Arg)
|
rs587779577
|
|
|
NM_000090.4(COL3A1):c.2060G>C (p.Gly687Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser)
|
rs886055331
|
|
|
NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
|
rs1576468160
|
|
|
NM_000090.4(COL3A1):c.2068G>A (p.Gly690Arg)
|
rs587779474
|
|
|
NM_000090.4(COL3A1):c.2069G>T (p.Gly690Val)
|
rs587779458
|
|
|
NM_000090.4(COL3A1):c.2070G>A (p.Gly690=)
|
rs1337071262
|
|
|
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val)
|
rs199851835
|
|
|
NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala)
|
rs587779442
|
|
|
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val)
|
rs587779442
|
|
|
NM_000090.4(COL3A1):c.2079A>T (p.Gly693=)
|
|
|
|
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
|
|
|
|
NM_000090.4(COL3A1):c.2085A>G (p.Arg695=)
|
|
|
|
NM_000090.4(COL3A1):c.2087G>A (p.Gly696Asp)
|
rs587779591
|
|
|
NM_000090.4(COL3A1):c.2095G>C (p.Gly699Arg)
|
rs587779668
|
|
|
NM_000090.4(COL3A1):c.2095G>T (p.Gly699Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp)
|
rs587779706
|
|
|
NM_000090.4(COL3A1):c.2098C>A (p.Pro700Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser)
|
rs1261828944
|
|
|
NM_000090.4(COL3A1):c.2101C>G (p.Pro701Ala)
|
rs762687549
|
|
|
NM_000090.4(COL3A1):c.2103T>C (p.Pro701=)
|
rs1688401379
|
|
|
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2105G>A (p.Gly702Asp)
|
rs587779512
|
|
|
NM_000090.4(COL3A1):c.2105G>C (p.Gly702Ala)
|
rs587779512
|
|
|
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val)
|
rs587779512
|
|
|
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser)
|
rs780123051
|
|
|
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu)
|
rs1688401669
|
|
|
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg)
|
rs587779623
|
|
|
NM_000090.4(COL3A1):c.2114G>A (p.Gly705Glu)
|
rs587779460
|
|
|
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu)
|
rs1688402397
|
|
|
NM_000090.4(COL3A1):c.2119_2121+11del
|
rs2153503009
|
|
|
NM_000090.4(COL3A1):c.2121+13C>T
|
|
|
|
NM_000090.4(COL3A1):c.2121+1G>C
|
rs587779675
|
|
|
NM_000090.4(COL3A1):c.2121+4del
|
rs1688402573
|
|
|
NM_000090.4(COL3A1):c.2122-11C>G
|
|
|
|
NM_000090.4(COL3A1):c.2122-19A>G
|
|
|
|
NM_000090.4(COL3A1):c.2122-9T>A
|
|
|
|
NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser)
|
rs2153503019
|
|
|
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)
|
rs111929073
|
|
|
NM_000090.4(COL3A1):c.2126C>A (p.Ala709Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)
|
rs587779695
|
|
|
NM_000090.4(COL3A1):c.2134_2160del (p.Pro712_Gly720del)
|
rs587779560
|
|
|
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu)
|
rs780028064
|
|
|
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg)
|
rs587779437
|
|
|
NM_000090.4(COL3A1):c.2141G>A (p.Gly714Glu)
|
rs587779678
|
|
|
NM_000090.4(COL3A1):c.2142_2168del (p.Pro715_Gly723del)
|
rs587779657
|
|
|
NM_000090.4(COL3A1):c.2149G>C (p.Gly717Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2150G>A (p.Gly717Asp)
|
rs587779549
|
|
|
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe)
|
rs2153503026
|
|
|
NM_000090.4(COL3A1):c.2153C>T (p.Ala718Val)
|
|
|
|
NM_000090.4(COL3A1):c.2156C>G (p.Ala719Gly)
|
rs1559058681
|
|
|
NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp)
|
rs1576468332
|
|
|
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp)
|
rs587779581
|
|
|
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg)
|
rs587779638
|
|
|
NM_000090.4(COL3A1):c.2177G>A (p.Gly726Glu)
|
rs587779698
|
|
|
NM_000090.4(COL3A1):c.2185G>A (p.Gly729Arg)
|
rs587779543
|
|
|
NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu)
|
rs587779680
|
|
|
NM_000090.4(COL3A1):c.2186G>C (p.Gly729Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter)
|
|
|
|
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg)
|
rs587779606
|
|
|
NM_000090.4(COL3A1):c.2199T>C (p.Gly733=)
|
rs762547633
|
|
|
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg)
|
rs587779484
|
|
|
NM_000090.4(COL3A1):c.2205A>C (p.Gly735=)
|
|
|
|
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser)
|
rs121912925
|
|
|
NM_000090.4(COL3A1):c.2212G>T (p.Gly738Cys)
|
rs121912925
|
|
|
NM_000090.4(COL3A1):c.2213G>T (p.Gly738Val)
|
rs587779615
|
|
|
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser)
|
rs587779685
|
|
|
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp)
|
rs553203474
|
|
|
NM_000090.4(COL3A1):c.2224G>T (p.Asp742Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.2226C>A (p.Asp742Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2229+10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2229+1G>A
|
rs1576468385
|
|
|
NM_000090.4(COL3A1):c.222C>T (p.Cys74=)
|
rs1688032683
|
|
|
NM_000090.4(COL3A1):c.2230-18T>A
|
|
|
|
NM_000090.4(COL3A1):c.2230-18T>C
|
|
|
|
NM_000090.4(COL3A1):c.2230-5G>A
|
rs74458631
|
|
|
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg)
|
rs2153503061
|
|
|
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2231G>T (p.Gly744Val)
|
rs587779697
|
|
|
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
|
|
|
|
NM_000090.4(COL3A1):c.2236C>T (p.Pro746Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2238A>G (p.Pro746=)
|
rs1311262989
|
|
|
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp)
|
rs1688417659
|
|
|
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=)
|
rs1553508706
|
|
|
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
|
rs1688418367
|
|
|
NM_000090.4(COL3A1):c.2253T>C (p.Ala751=)
|
|
|
|
NM_000090.4(COL3A1):c.2255A>G (p.Asp752Gly)
|
|
|
|
NM_000090.4(COL3A1):c.2257G>T (p.Gly753Cys)
|
rs2153503066
|
|
|
NM_000090.4(COL3A1):c.225C>A (p.Pro75=)
|
rs141335164
|
|
|
NM_000090.4(COL3A1):c.2261T>A (p.Val754Asp)
|
rs200390941
|
|
|
NM_000090.4(COL3A1):c.2262C>T (p.Val754=)
|
|
|
|
NM_000090.4(COL3A1):c.2265A>G (p.Pro755=)
|
rs1576468557
|
|
|
NM_000090.4(COL3A1):c.2266G>A (p.Gly756Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)
|
rs1576468562
|
|
|
NM_000090.4(COL3A1):c.2268G>A (p.Gly756=)
|
|
|
|
NM_000090.4(COL3A1):c.2269A>G (p.Lys757Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly)
|
rs2153503070
|
|
|
NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp)
|
rs587779418
|
|
|
NM_000090.4(COL3A1):c.2283+12C>T
|
|
|
|
NM_000090.4(COL3A1):c.2283+15T>C
|
|
|
|
NM_000090.4(COL3A1):c.2283+17A>T
|
|
|
|
NM_000090.4(COL3A1):c.2283+1G>A
|
rs1559058970
|
|
|
NM_000090.4(COL3A1):c.2283+5G>A
|
|
|
|
NM_000090.4(COL3A1):c.2283+8T>A
|
|
|
|
NM_000090.4(COL3A1):c.2283+9T>A
|
|
|
|
NM_000090.4(COL3A1):c.2284-108_3490del
|
|
|
|
NM_000090.4(COL3A1):c.2284-15T>A
|
|
|
|
NM_000090.4(COL3A1):c.2284-17A>G
|
|
|
|
NM_000090.4(COL3A1):c.2284-2A>G
|
rs587779558
|
|
|
NM_000090.4(COL3A1):c.2284-4C>G
|
rs1576469212
|
|
|
NM_000090.4(COL3A1):c.2284-667_3256-44del
|
|
|
|
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser)
|
rs587779694
|
|
|
NM_000090.4(COL3A1):c.2284G>C (p.Gly762Arg)
|
rs587779694
|
|
|
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp)
|
rs587779541
|
|
|
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val)
|
rs587779541
|
|
|
NM_000090.4(COL3A1):c.2293G>A (p.Gly765Ser)
|
rs587779630
|
|
|
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val)
|
rs587779492
|
|
|
NM_000090.4(COL3A1):c.2298T>G (p.Pro766=)
|
rs1278002435
|
|
|
NM_000090.4(COL3A1):c.2299A>G (p.Ile767Val)
|
|
|
|
NM_000090.4(COL3A1):c.2299A>T (p.Ile767Phe)
|
|
|
|
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser)
|
rs1688032952
|
|
|
NM_000090.4(COL3A1):c.22G>A (p.Gly8Arg)
|
rs1687765852
|
|
|
NM_000090.4(COL3A1):c.2301T>C (p.Ile767=)
|
rs1559059510
|
|
|
NM_000090.4(COL3A1):c.2302G>C (p.Gly768Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2304T>C (p.Gly768=)
|
|
|
|
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del)
|
rs2153503227
|
|
|
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp)
|
rs1060500193
|
|
|
NM_000090.4(COL3A1):c.2319T>C (p.Ala773=)
|
rs2153503232
|
|
|
NM_000090.4(COL3A1):c.2321G>A (p.Gly774Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2337+15T>C
|
|
|
|
NM_000090.4(COL3A1):c.2337+1G>A
|
rs587779663
|
|
|
NM_000090.4(COL3A1):c.2337+2T>C
|
rs587779513
|
|
|
NM_000090.4(COL3A1):c.2337+7C>A
|
rs1060503874
|
|
|
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)
|
rs587779461
|
|
|
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn)
|
|
|
|
NM_000090.4(COL3A1):c.2338-31_3040-194del
|
|
|
|
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp)
|
rs370292679
|
|
|
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)
|
rs148901664
|
|
|
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)
|
rs113485686
|
|
|
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val)
|
rs587779564
|
|
|
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=)
|
rs1207914999
|
|
|
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)
|
|
|
|
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser)
|
rs749803388
|
|
|
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)
|
rs886055332
|
|
|
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr)
|
rs1179918994
|
|
|
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=)
|
rs200452382
|
|
|
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His)
|
rs1332613006
|
|
|
NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro)
|
|
|
|
NM_000090.4(COL3A1):c.2384G>A (p.Gly795Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2391+12del
|
|
|
|
NM_000090.4(COL3A1):c.2391+16A>G
|
|
|
|
NM_000090.4(COL3A1):c.2391+18T>C
|
|
|
|
NM_000090.4(COL3A1):c.2392-16A>C
|
rs2153503297
|
|
|
NM_000090.4(COL3A1):c.2392-3_2395del
|
rs1559059873
|
|
|
NM_000090.4(COL3A1):c.2393G>A (p.Gly798Asp)
|
rs2153503300
|
|
|
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)
|
|
|
|
NM_000090.4(COL3A1):c.2397G>A (p.Glu799=)
|
rs1338674766
|
|
|
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
|
|
|
|
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys)
|
rs199564715
|
|
|
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu)
|
rs2153500011
|
|
|
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp)
|
rs587779689
|
|
|
NM_000090.4(COL3A1):c.2403T>C (p.Gly801=)
|
|
|
|
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2418A>G (p.Pro806=)
|
rs2153503304
|
|
|
NM_000090.4(COL3A1):c.2419G>A (p.Gly807Arg)
|
|
|
|
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)
|
rs1576460785
|
|
|
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=)
|
rs1688486002
|
|
|
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=)
|
rs1214826179
|
|
|
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)
|
rs397509369
|
|
|
NM_000090.4(COL3A1):c.2438G>T (p.Gly813Val)
|
|
|
|
NM_000090.4(COL3A1):c.2445+14T>G
|
|
|
|
NM_000090.4(COL3A1):c.2445+15_2445+18del
|
|
|
|
NM_000090.4(COL3A1):c.2445+19A>G
|
rs776819930
|
|
|
NM_000090.4(COL3A1):c.2445+2dup
|
rs587779572
|
|
|
NM_000090.4(COL3A1):c.2445+5G>A
|
rs587779636
|
|
|
NM_000090.4(COL3A1):c.2446-10T>A
|
|
|
|
NM_000090.4(COL3A1):c.2446-12T>C
|
|
|
|
NM_000090.4(COL3A1):c.2446-15T>A
|
|
|
|
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp)
|
rs2153503368
|
|
|
NM_000090.4(COL3A1):c.2457T>C (p.Gly819=)
|
rs2153503369
|
|
|
NM_000090.4(COL3A1):c.2458G>A (p.Glu820Lys)
|
|
|
|
NM_000090.4(COL3A1):c.2482G>T (p.Gly828Trp)
|
rs587779486
|
|
|
NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2484G>T (p.Gly828=)
|
|
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del)
|
rs397509374
|
|
|
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=)
|
rs551541918
|
|
|
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter)
|
rs1460396340
|
|
|
NM_000090.4(COL3A1):c.2499A>G (p.Lys833=)
|
|
|
|
NM_000090.4(COL3A1):c.24G>A (p.Gly8=)
|
rs754759981
|
|
|
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg)
|
rs2153503381
|
|
|
NM_000090.4(COL3A1):c.2501G>A (p.Gly834Asp)
|
rs587779642
|
|
|
NM_000090.4(COL3A1):c.2501G>C (p.Gly834Ala)
|
rs587779642
|
|
|
NM_000090.4(COL3A1):c.2510G>A (p.Gly837Asp)
|
rs587779526
|
|
|
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe)
|
rs1688502124
|
|
|
NM_000090.4(COL3A1):c.2522T>C (p.Val841Ala)
|
rs1466306398
|
|
|
NM_000090.4(COL3A1):c.2525C>T (p.Ala842Val)
|
|
|
|
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala)
|
rs780490668
|
|
|
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs)
|
rs587779653
|
|
|
NM_000090.4(COL3A1):c.253T>C (p.Cys85Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val)
|
rs1336654706
|
|
|
NM_000090.4(COL3A1):c.2541T>C (p.Gly847=)
|
|
|
|
NM_000090.4(COL3A1):c.2544T>C (p.Ser848=)
|
|
|
|
NM_000090.4(COL3A1):c.2547A>G (p.Gly849=)
|
rs2153503385
|
|
|
NM_000090.4(COL3A1):c.2553+11T>C
|
rs1237495499
|
|
|
NM_000090.4(COL3A1):c.2553+17_2553+22del
|
|
|
|
NM_000090.4(COL3A1):c.2553+1G>A
|
rs587779664
|
|
|
NM_000090.4(COL3A1):c.2553+1G>C
|
rs587779664
|
|
|
NM_000090.4(COL3A1):c.2553+1del
|
rs587779514
|
|
|
NM_000090.4(COL3A1):c.2553+21_2553+22del
|
|
|
|
NM_000090.4(COL3A1):c.2553+23_2553+26del
|
rs982921278
|
|
|
NM_000090.4(COL3A1):c.2553+2T>C
|
rs587779684
|
|
|
NM_000090.4(COL3A1):c.2553+3A>T
|
rs587779713
|
|
|
NM_000090.4(COL3A1):c.2553+5G>T
|
rs397509371
|
|
|
NM_000090.4(COL3A1):c.2554-10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2554-11A>G
|
|
|
|
NM_000090.4(COL3A1):c.2554-14T>A
|
|
|
|
NM_000090.4(COL3A1):c.2554-1G>A
|
rs587779519
|
|
|
NM_000090.4(COL3A1):c.2554-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.2554-6A>T
|
|
|
|
NM_000090.4(COL3A1):c.2554G>T (p.Gly852Cys)
|
rs587779690
|
|
|
NM_000090.4(COL3A1):c.2555G>A (p.Gly852Asp)
|
rs587779494
|
|
|
NM_000090.4(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer)
|
rs1135402747
|
|
|
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)
|
rs2153503430
|
|
|
NM_000090.4(COL3A1):c.2564G>A (p.Gly855Asp)
|
rs587779466
|
|
|
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter)
|
rs1559060412
|
|
|
NM_000090.4(COL3A1):c.2573G>T (p.Gly858Val)
|
rs587779717
|
|
|
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile)
|
|
|
|
NM_000090.4(COL3A1):c.257C>T (p.Ala86Val)
|
|
|
|
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)
|
rs755762264
|
|
|
NM_000090.4(COL3A1):c.258A>T (p.Ala86=)
|
rs775636888
|
|
|
NM_000090.4(COL3A1):c.2593A>G (p.Ser865Gly)
|
|
|
|
NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp)
|
rs587779417
|
|
|
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
|
|
|
|
NM_000090.4(COL3A1):c.2604A>T (p.Gly868=)
|
rs1688516007
|
|
|
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)
|
rs758992360
|
|
|
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His)
|
rs794728052
|
|
|
NM_000090.4(COL3A1):c.2607+16C>G
|
|
|
|
NM_000090.4(COL3A1):c.2607+19A>C
|
|
|
|
NM_000090.4(COL3A1):c.2607+5G>A
|
rs587779457
|
|
|
NM_000090.4(COL3A1):c.2607+5G>T
|
rs587779457
|
|
|
NM_000090.4(COL3A1):c.2610T>C (p.Gly870=)
|
rs1474368726
|
|
|
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro)
|
rs1475390693
|
|
|
NM_000090.4(COL3A1):c.2622C>T (p.Phe874=)
|
|
|
|
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser)
|
rs761222859
|
|
|
NM_000090.4(COL3A1):c.2628T>C (p.Gly876=)
|
|
|
|
NM_000090.4(COL3A1):c.2631T>C (p.Ala877=)
|
|
|
|
NM_000090.4(COL3A1):c.2633G>T (p.Arg878Leu)
|
rs1419949637
|
|
|
NM_000090.4(COL3A1):c.2636G>T (p.Gly879Val)
|
rs587779645
|
|
|
NM_000090.4(COL3A1):c.2645G>A (p.Gly882Asp)
|
rs587779622
|
|
|
NM_000090.4(COL3A1):c.2647_2655dup (p.Gly885_Ser886insProProGly)
|
|
|
|
NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC
|
rs587779590
|
|
|
NM_000090.4(COL3A1):c.2661+11G>A
|
|
|
|
NM_000090.4(COL3A1):c.2661+13T>G
|
|
|
|
NM_000090.4(COL3A1):c.2661+14A>T
|
|
|
|
NM_000090.4(COL3A1):c.2661+9T>C
|
|
|
|
NM_000090.4(COL3A1):c.2661T>C (p.Asn887=)
|
rs1306865410
|
|
|
NM_000090.4(COL3A1):c.2662-11A>C
|
|
|
|
NM_000090.4(COL3A1):c.2662-16A>C
|
|
|
|
NM_000090.4(COL3A1):c.2662-16A>G
|
|
|
|
NM_000090.4(COL3A1):c.2662-4G>A
|
|
|
|
NM_000090.4(COL3A1):c.2662-6T>C
|
rs2153503492
|
|
|
NM_000090.4(COL3A1):c.2668C>G (p.Pro890Ala)
|
rs794728053
|
|
|
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu)
|
rs1688528616
|
|
|
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu)
|
rs1447793042
|
|
|
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg)
|
rs1455100373
|
|
|
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala)
|
rs587779589
|
|
|
NM_000090.4(COL3A1):c.2685C>T (p.Pro895=)
|
|
|
|
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp)
|
rs1688529460
|
|
|
NM_000090.4(COL3A1):c.2699G>A (p.Gly900Asp)
|
rs587779599
|
|
|
NM_000090.4(COL3A1):c.2708G>A (p.Gly903Glu)
|
rs587779505
|
|
|
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu)
|
rs886055333
|
|
|
NM_000090.4(COL3A1):c.2716G>C (p.Gly906Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
|
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp)
|
rs587779483
|
|
|
NM_000090.4(COL3A1):c.2726G>T (p.Gly909Val)
|
rs587779483
|
|
|
NM_000090.4(COL3A1):c.2734G>A (p.Gly912Ser)
|
rs2153503495
|
|
|
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp)
|
rs587779716
|
|
|
NM_000090.4(COL3A1):c.2743G>A (p.Gly915Ser)
|
rs2153503498
|
|
|
NM_000090.4(COL3A1):c.2745C>A (p.Gly915=)
|
|
|
|
NM_000090.4(COL3A1):c.2745C>T (p.Gly915=)
|
|
|
|
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser)
|
rs991559993
|
|
|
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg)
|
rs1085307896
|
|
|
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu)
|
rs587779662
|
|
|
NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu)
|
rs1553509187
|
|
|
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser)
|
rs587779471
|
|
|
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys)
|
rs587779471
|
|
|
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp)
|
rs587779450
|
|
|
NM_000090.4(COL3A1):c.2771G>T (p.Gly924Val)
|
rs587779450
|
|
|
NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp)
|
rs587779432
|
|
|
NM_000090.4(COL3A1):c.2784A>C (p.Gln928His)
|
rs2153503501
|
|
|
NM_000090.4(COL3A1):c.278C>A (p.Thr93Asn)
|
rs2153501376
|
|
|
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys)
|
rs1553509193
|
|
|
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)
|
rs1688532582
|
|
|
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)
|
|
|
|
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu)
|
rs753621331
|
|
|
NM_000090.4(COL3A1):c.2801del (p.Ser934fs)
|
|
|
|
NM_000090.4(COL3A1):c.2806G>C (p.Gly936Arg)
|
rs587779566
|
|
|
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)
|
rs1688533171
|
|
|
NM_000090.4(COL3A1):c.2815G>A (p.Gly939Ser)
|
rs587779550
|
|
|
NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg)
|
rs587779550
|
|
|
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys)
|
rs587779550
|
|
|
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln)
|
rs1221479337
|
|
|
NM_000090.4(COL3A1):c.282+13A>T
|
rs754113375
|
|
|
NM_000090.4(COL3A1):c.282+20_282+21del
|
|
|
|
NM_000090.4(COL3A1):c.282+9A>G
|
rs2153501381
|
|
|
NM_000090.4(COL3A1):c.2823+10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2823+1G>A
|
rs587779424
|
|
|
NM_000090.4(COL3A1):c.2823+1G>T
|
rs587779424
|
|
|
NM_000090.4(COL3A1):c.2824-14A>G
|
|
|
|
NM_000090.4(COL3A1):c.2824-15C>T
|
|
|
|
NM_000090.4(COL3A1):c.2824-1G>A
|
rs587779617
|
|
|
NM_000090.4(COL3A1):c.2824-5A>G
|
rs373994011
|
|
|
NM_000090.4(COL3A1):c.2824-6T>C
|
|
|
|
NM_000090.4(COL3A1):c.2824-8T>C
|
|
|
|
NM_000090.4(COL3A1):c.2824-9C>T
|
rs1553509204
|
|
|
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg)
|
rs587779438
|
|
|
NM_000090.4(COL3A1):c.2825G>A (p.Gly942Glu)
|
rs587779517
|
|
|
NM_000090.4(COL3A1):c.2828del (p.Ala943fs)
|
rs1553509208
|
|
|
NM_000090.4(COL3A1):c.283-10C>T
|
|
|
|
NM_000090.4(COL3A1):c.283-20_283-17del
|
|
|
|
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser)
|
rs587779567
|
|
|
NM_000090.4(COL3A1):c.2838A>T (p.Pro946=)
|
rs1576470760
|
|
|
NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe)
|
rs1060500198
|
|
|
NM_000090.4(COL3A1):c.2841T>C (p.Leu947=)
|
rs1576470766
|
|
|
NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg)
|
rs587779447
|
|
|
NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu)
|
rs878853651
|
|
|
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=)
|
rs1688537796
|
|
|
NM_000090.4(COL3A1):c.2850T>C (p.Ala950=)
|
|
|
|
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg)
|
rs587779674
|
|
|
NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu)
|
rs587779434
|
|
|
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=)
|
rs1377418572
|
|
|
NM_000090.4(COL3A1):c.2867G>T (p.Arg956Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser)
|
rs121912913
|
|
|
NM_000090.4(COL3A1):c.2869G>T (p.Gly957Cys)
|
rs121912913
|
|
|
NM_000090.4(COL3A1):c.2870G>A (p.Gly957Asp)
|
rs587779654
|
|
|
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val)
|
rs587779654
|
|
|
NM_000090.4(COL3A1):c.2876C>T (p.Ala959Val)
|
rs2153503530
|
|
|
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val)
|
rs121912922
|
|
|
NM_000090.4(COL3A1):c.2886A>G (p.Pro962=)
|
|
|
|
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg)
|
rs587779640
|
|
|
NM_000090.4(COL3A1):c.2887G>T (p.Gly963Cys)
|
rs587779640
|
|
|
NM_000090.4(COL3A1):c.2888G>A (p.Gly963Asp)
|
rs587779511
|
|
|
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val)
|
rs587779511
|
|
|
NM_000090.4(COL3A1):c.2888del (p.Gly963fs)
|
|
|
|
NM_000090.4(COL3A1):c.2897G>T (p.Gly966Val)
|
rs587779571
|
|
|
NM_000090.4(COL3A1):c.289C>G (p.Arg97Gly)
|
rs768671254
|
|
|
NM_000090.4(COL3A1):c.2905G>A (p.Gly969Arg)
|
rs587779580
|
|
|
NM_000090.4(COL3A1):c.2906G>A (p.Gly969Glu)
|
|
|
|
NM_000090.4(COL3A1):c.290G>A (p.Arg97His)
|
rs1197947308
|
|
|
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu)
|
rs1197947308
|
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
|
NM_000090.4(COL3A1):c.2915G>A (p.Gly972Asp)
|
rs587779559
|
|
|
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala)
|
rs587779559
|
|
|
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val)
|
rs587779542
|
|
|
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala)
|
rs886038939
|
|
|
NM_000090.4(COL3A1):c.2928C>A (p.Val976=)
|
rs2153503539
|
|
|
NM_000090.4(COL3A1):c.2931+1G>A
|
rs397509373
|
|
|
NM_000090.4(COL3A1):c.2931+20A>G
|
rs1553509243
|
|
|
NM_000090.4(COL3A1):c.2931+3G>C
|
|
|
|
NM_000090.4(COL3A1):c.2932-10T>A
|
|
|
|
NM_000090.4(COL3A1):c.2932-10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2932-15T>C
|
|
|
|
NM_000090.4(COL3A1):c.2932-16A>T
|
|
|
|
NM_000090.4(COL3A1):c.2932-6A>T
|
rs1688561621
|
|
|
NM_000090.4(COL3A1):c.2932-8G>A
|
|
|
|
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser)
|
rs1688561706
|
|
|
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp)
|
rs587779595
|
|
|
NM_000090.4(COL3A1):c.2935G>T (p.Glu979Ter)
|
rs587779488
|
|
|
NM_000090.4(COL3A1):c.2941G>A (p.Gly981Arg)
|
rs587779449
|
|
|
NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg)
|
rs587779449
|
|
|
NM_000090.4(COL3A1):c.2943G>A (p.Gly981=)
|
rs2153503629
|
|
|
NM_000090.4(COL3A1):c.2950_2951delinsAC (p.Gly984Thr)
|
rs1559061242
|
|
|
NM_000090.4(COL3A1):c.2955_2958dup (p.Gly987Ter)
|
rs2153503632
|
|
|
NM_000090.4(COL3A1):c.2958_2959insCGT (p.Asn986_Gly987insArg)
|
|
|
|
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)
|
rs587779583
|
|
|
NM_000090.4(COL3A1):c.2959G>T (p.Gly987Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His)
|
rs770525372
|
|
|
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro)
|
rs770525372
|
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
|
NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys)
|
rs587779416
|
|
|
NM_000090.4(COL3A1):c.2978G>A (p.Gly993Asp)
|
rs587779456
|
|
|
NM_000090.4(COL3A1):c.2981C>A (p.Pro994His)
|
rs1688563132
|
|
|
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu)
|
rs1688563132
|
|
|
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
|
|
|
|
NM_000090.4(COL3A1):c.2983C>T (p.Pro995Ser)
|
rs1421131137
|
|
|
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg)
|
rs2153503634
|
|
|
NM_000090.4(COL3A1):c.2987G>A (p.Gly996Glu)
|
rs587779576
|
|
|
NM_000090.4(COL3A1):c.2989C>T (p.Pro997Ser)
|
rs1060500202
|
|
|
NM_000090.4(COL3A1):c.2993A>G (p.Gln998Arg)
|
rs139859476
|
|
|
NM_000090.4(COL3A1):c.2993A>T (p.Gln998Leu)
|
rs139859476
|
|
|
NM_000090.4(COL3A1):c.2995G>A (p.Gly999Ser)
|
rs587779548
|
|
|
NM_000090.4(COL3A1):c.2995G>C (p.Gly999Arg)
|
rs587779548
|
|
|
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3006T>C (p.Gly1002=)
|
|
|
|
NM_000090.4(COL3A1):c.3009G>A (p.Leu1003=)
|
|
|
|
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=)
|
rs762167409
|
|
|
NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala)
|
|
|
|
NM_000090.4(COL3A1):c.301G>T (p.Gly101Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3023G>A (p.Gly1008Asp)
|
rs587779659
|
|
|
NM_000090.4(COL3A1):c.3025G>C (p.Glu1009Gln)
|
|
|
|
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter)
|
|
|
|
NM_000090.4(COL3A1):c.3028C>T (p.Pro1010Ser)
|
|
|
|
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu)
|
rs587779552
|
|
|
NM_000090.4(COL3A1):c.3039+154_3525+223del
|
|
|
|
NM_000090.4(COL3A1):c.3039+1G>A
|
rs587779506
|
|
|
NM_000090.4(COL3A1):c.3039+5G>A
|
rs587779568
|
|
|
NM_000090.4(COL3A1):c.3039+6T>C
|
rs587779532
|
|
|
NM_000090.4(COL3A1):c.3039+8G>A
|
|
|
|
NM_000090.4(COL3A1):c.3040-127_3255+107del
|
|
|
|
NM_000090.4(COL3A1):c.3040-3C>G
|
rs2153503706
|
|
|
NM_000090.4(COL3A1):c.3040-7T>C
|
rs996543982
|
|
|
NM_000090.4(COL3A1):c.3040-7dup
|
|
|
|
NM_000090.4(COL3A1):c.3040-8T>G
|
|
|
|
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)
|
rs1553509391
|
|
|
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu)
|
rs121912916
|
|
|
NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg)
|
rs1553509397
|
|
|
NM_000090.4(COL3A1):c.3062_3064del (p.Leu1021del)
|
rs587779529
|
|
|
NM_000090.4(COL3A1):c.3065C>T (p.Pro1022Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp)
|
rs1553509401
|
|
|
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter)
|
rs587779479
|
|
|
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3075T>C (p.Asp1025=)
|
|
|
|
NM_000090.4(COL3A1):c.3082C>T (p.Pro1028Ser)
|
rs2153503710
|
|
|
NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3093+18G>A
|
|
|
|
NM_000090.4(COL3A1):c.3093+1G>A
|
rs869312034
|
|
|
NM_000090.4(COL3A1):c.3093+1G>T
|
rs869312034
|
|
|
NM_000090.4(COL3A1):c.3093+20A>C
|
|
|
|
NM_000090.4(COL3A1):c.3093+2T>C
|
rs587779503
|
|
|
NM_000090.4(COL3A1):c.3093+2T>G
|
rs587779503
|
|
|
NM_000090.4(COL3A1):c.3093+3A>C
|
rs771429937
|
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
|
NM_000090.4(COL3A1):c.3093G>A (p.Lys1031=)
|
rs1688583589
|
|
|
NM_000090.4(COL3A1):c.3094-10_3094delinsGT
|
rs1559061674
|
|
|
NM_000090.4(COL3A1):c.3094-4A>G
|
|
|
|
NM_000090.4(COL3A1):c.3094-8G>A
|
|
|
|
NM_000090.4(COL3A1):c.3094G>A (p.Gly1032Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val)
|
rs587779428
|
|
|
NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter)
|
rs587779677
|
|
|
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=)
|
rs1399453028
|
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val)
|
rs587779582
|
|
|
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)
|
rs1559061706
|
|
|
NM_000090.4(COL3A1):c.3119C>T (p.Pro1040Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)
|
rs1688586251
|
|
|
NM_000090.4(COL3A1):c.3122G>T (p.Gly1041Val)
|
rs587779491
|
|
|
NM_000090.4(COL3A1):c.3126C>T (p.Ala1042=)
|
rs1576471813
|
|
|
NM_000090.4(COL3A1):c.3129T>C (p.Pro1043=)
|
|
|
|
NM_000090.4(COL3A1):c.3135T>G (p.Ala1045=)
|
|
|
|
NM_000090.4(COL3A1):c.3140G>A (p.Gly1047Asp)
|
rs587779545
|
|
|
NM_000090.4(COL3A1):c.3141T>A (p.Gly1047=)
|
rs1443252912
|
|
|
NM_000090.4(COL3A1):c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly)
|
|
|
|
NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp)
|
rs121912914
|
|
|
NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val)
|
rs121912914
|
|
|
NM_000090.4(COL3A1):c.3150C>T (p.Gly1050=)
|
|
|
|
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser)
|
rs2153503729
|
|
|
NM_000090.4(COL3A1):c.3157G>C (p.Gly1053Arg)
|
rs587779651
|
|
|
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)
|
rs1576471840
|
|
|
NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser)
|
rs1576471847
|
|
|
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=)
|
rs1576471851
|
|
|
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)
|
rs587779540
|
|
|
NM_000090.4(COL3A1):c.3170C>G (p.Pro1057Arg)
|
rs1576471860
|
|
|
NM_000090.4(COL3A1):c.3176G>T (p.Gly1059Val)
|
rs587779619
|
|
|
NM_000090.4(COL3A1):c.3184G>A (p.Gly1062Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3185G>A (p.Gly1062Asp)
|
|
|
|
NM_000090.4(COL3A1):c.318C>T (p.Gly106=)
|
rs2153501417
|
|
|
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs)
|
rs2153501416
|
|
|
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)
|
rs587779563
|
|
|
NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu)
|
rs1553509430
|
|
|
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn)
|
rs886039067
|
|
|
NM_000090.4(COL3A1):c.3201+10C>G
|
rs372405344
|
|
|
NM_000090.4(COL3A1):c.3201+10C>T
|
rs372405344
|
|
|
NM_000090.4(COL3A1):c.3201+8C>A
|
rs765137525
|
|
|
NM_000090.4(COL3A1):c.3202-15A>G
|
|
|
|
NM_000090.4(COL3A1):c.3202-17G>T
|
|
|
|
NM_000090.4(COL3A1):c.3202-20A>G
|
|
|
|
NM_000090.4(COL3A1):c.3202-20A>T
|
rs1688597270
|
|
|
NM_000090.4(COL3A1):c.3202-2A>G
|
rs587779682
|
|
|
NM_000090.4(COL3A1):c.3202-5C>T
|
rs1417576506
|
|
|
NM_000090.4(COL3A1):c.3202-7A>G
|
rs201091810
|
|
|
NM_000090.4(COL3A1):c.3202-9dup
|
|
|
|
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)
|
rs1559061954
|
|
|
NM_000090.4(COL3A1):c.3203G>A (p.Gly1068Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3203G>T (p.Gly1068Val)
|
rs587779551
|
|
|
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1])
|
rs771791598
|
|
|
NM_000090.4(COL3A1):c.3204CCCTGCTGG[3] (p.1069PAG[3])
|
rs771791598
|
|
|
NM_000090.4(COL3A1):c.3209C>G (p.Ala1070Gly)
|
|
|
|
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)
|
rs587779709
|
|
|
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser)
|
rs1688598580
|
|
|
NM_000090.4(COL3A1):c.321C>T (p.Pro107=)
|
|
|
|
NM_000090.4(COL3A1):c.3220G>A (p.Gly1074Ser)
|
rs587779554
|
|
|
NM_000090.4(COL3A1):c.3221G>A (p.Gly1074Asp)
|
rs2153503790
|
|
|
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=)
|
rs1060503873
|
|
|
NM_000090.4(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del)
|
rs587779509
|
|
|
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)
|
rs886038892
|
|
|
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val)
|
rs121912915
|
|
|
NM_000090.4(COL3A1):c.3239G>A (p.Gly1080Asp)
|
rs587779469
|
|
|
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
|
|
|
|
NM_000090.4(COL3A1):c.324G>A (p.Lys108=)
|
rs2153501420
|
|
|
NM_000090.4(COL3A1):c.3255+18T>G
|
|
|
|
NM_000090.4(COL3A1):c.3255+19dup
|
rs1246347975
|
|
|
NM_000090.4(COL3A1):c.3255+1G>A
|
rs587779480
|
|
|
NM_000090.4(COL3A1):c.3255+1G>C
|
rs587779480
|
|
|
NM_000090.4(COL3A1):c.3255+20G>T
|
|
|
|
NM_000090.4(COL3A1):c.3255+5G>A
|
rs587779501
|
|
|
NM_000090.4(COL3A1):c.3255+9T>A
|
rs2153503798
|
|
|
NM_000090.4(COL3A1):c.3256-17A>G
|
|
|
|
NM_000090.4(COL3A1):c.3256-1G>A
|
rs1688619749
|
|
|
NM_000090.4(COL3A1):c.3256-43T>G
|
rs587779667
|
|
|
NM_000090.4(COL3A1):c.3256-8T>C
|
rs2153503883
|
|
|
NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val)
|
rs1060500203
|
|
|
NM_000090.4(COL3A1):c.3259C>T (p.Pro1087Ser)
|
rs1688619897
|
|
|
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu)
|
rs576166457
|
|
|
NM_000090.4(COL3A1):c.3262C>T (p.Gln1088Ter)
|
rs1328301317
|
|
|
NM_000090.4(COL3A1):c.3266G>A (p.Gly1089Asp)
|
rs587779672
|
|
|
NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val)
|
rs587779672
|
|
|
NM_000090.4(COL3A1):c.3274G>T (p.Gly1092Cys)
|
rs2153503888
|
|
|
NM_000090.4(COL3A1):c.3275G>T (p.Gly1092Val)
|
rs587779666
|
|
|
NM_000090.4(COL3A1):c.3276T>C (p.Gly1092=)
|
rs2153503890
|
|
|
NM_000090.4(COL3A1):c.3277G>A (p.Asp1093Asn)
|
rs2153503891
|
|
|
NM_000090.4(COL3A1):c.3284G>A (p.Gly1095Asp)
|
rs587779610
|
|
|
NM_000090.4(COL3A1):c.3284G>T (p.Gly1095Val)
|
rs587779610
|
|
|
NM_000090.4(COL3A1):c.3290_3291del (p.Thr1097fs)
|
rs2153503895
|
|
|
NM_000090.4(COL3A1):c.3291A>G (p.Thr1097=)
|
|
|
|
NM_000090.4(COL3A1):c.3292G>C (p.Gly1098Arg)
|
rs2153503896
|
|
|
NM_000090.4(COL3A1):c.3293G>T (p.Gly1098Val)
|
rs587779614
|
|
|
NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg)
|
rs587779439
|
|
|
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu)
|
rs121912924
|
|
|
NM_000090.4(COL3A1):c.3312C>T (p.Gly1104=)
|
rs752919642
|
|
|
NM_000090.4(COL3A1):c.3314T>G (p.Ile1105Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg)
|
rs587779561
|
|
|
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg)
|
rs1688621770
|
|
|
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)
|
rs112371422
|
|
|
NM_000090.4(COL3A1):c.333+14C>T
|
|
|
|
NM_000090.4(COL3A1):c.333+4A>G
|
rs1688041454
|
|
|
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu)
|
rs1376067428
|
|
|
NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp)
|
|
|
|
NM_000090.4(COL3A1):c.334-2A>G
|
rs1553506938
|
|
|
NM_000090.4(COL3A1):c.334-3T>C
|
rs2153501467
|
|
|
NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val)
|
rs587779445
|
|
|
NM_000090.4(COL3A1):c.3353C>T (p.Pro1118Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp)
|
rs587779639
|
|
|
NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3363+12C>T
|
|
|
|
NM_000090.4(COL3A1):c.3363+18G>C
|
|
|
|
NM_000090.4(COL3A1):c.3364-12C>T
|
|
|
|
NM_000090.4(COL3A1):c.3364-16C>T
|
|
|
|
NM_000090.4(COL3A1):c.3364-20T>C
|
|
|
|
NM_000090.4(COL3A1):c.3364-2A>C
|
rs587779546
|
|
|
NM_000090.4(COL3A1):c.3364-6T>C
|
|
|
|
NM_000090.4(COL3A1):c.3364-9T>G
|
rs2153503942
|
|
|
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser)
|
rs1688630479
|
|
|
NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=)
|
rs1355734194
|
|
|
NM_000090.4(COL3A1):c.3381G>T (p.Gln1127His)
|
|
|
|
NM_000090.4(COL3A1):c.3383G>T (p.Gly1128Val)
|
rs2153503949
|
|
|
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=)
|
rs148918486
|
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
|
NM_000090.4(COL3A1):c.3392G>T (p.Gly1131Val)
|
|
|
|
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val)
|
rs1688631496
|
|
|
NM_000090.4(COL3A1):c.3410G>A (p.Gly1137Asp)
|
rs587779720
|
|
|
NM_000090.4(COL3A1):c.3411C>A (p.Gly1137=)
|
|
|
|
NM_000090.4(COL3A1):c.3412C>T (p.Pro1138Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3417+17G>C
|
|
|
|
NM_000090.4(COL3A1):c.3417+18A>G
|
|
|
|
NM_000090.4(COL3A1):c.3417+1G>A
|
rs587779444
|
|
|
NM_000090.4(COL3A1):c.3417+1G>C
|
rs587779444
|
|
|
NM_000090.4(COL3A1):c.3417+1G>T
|
rs587779444
|
|
|
NM_000090.4(COL3A1):c.3417+2T>C
|
|
|
|
NM_000090.4(COL3A1):c.3417+4_3417+5del
|
rs1553509630
|
|
|
NM_000090.4(COL3A1):c.3417+5G>A
|
rs587779448
|
|
|
NM_000090.4(COL3A1):c.3417+7A>G
|
|
|
|
NM_000090.4(COL3A1):c.3417+9C>A
|
|
|
|
NM_000090.4(COL3A1):c.3418-19T>C
|
|
|
|
NM_000090.4(COL3A1):c.3418-1G>T
|
rs587779562
|
|
|
NM_000090.4(COL3A1):c.3418-2A>G
|
rs587779502
|
|
|
NM_000090.4(COL3A1):c.3418-2A>T
|
rs587779502
|
|
|
NM_000090.4(COL3A1):c.3418-4T>C
|
rs1688634628
|
|
|
NM_000090.4(COL3A1):c.3418-9C>T
|
rs2153503964
|
|
|
NM_000090.4(COL3A1):c.3419G>A (p.Gly1140Glu)
|
rs587779648
|
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
|
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
|
|
|
|
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)
|
rs964468427
|
|
|
NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)
|
rs1576472890
|
|
|
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser)
|
rs1287518692
|
|
|
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp)
|
rs1688635593
|
|
|
NM_000090.4(COL3A1):c.3451G>A (p.Asp1151Asn)
|
rs1688635701
|
|
|
NM_000090.4(COL3A1):c.3458C>G (p.Thr1153Ser)
|
rs2153503972
|
|
|
NM_000090.4(COL3A1):c.3459C>G (p.Thr1153=)
|
rs1576472923
|
|
|
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)
|
rs2153503975
|
|
|
NM_000090.4(COL3A1):c.3465A>G (p.Gly1155=)
|
rs2153503977
|
|
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
|
NM_000090.4(COL3A1):c.3473G>A (p.Gly1158Asp)
|
rs587779472
|
|
|
NM_000090.4(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup)
|
rs1576472935
|
|
|
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu)
|
rs1378423439
|
|
|
NM_000090.4(COL3A1):c.3477C>A (p.Pro1159=)
|
|
|
|
NM_000090.4(COL3A1):c.347T>C (p.Ile116Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu)
|
rs587779473
|
|
|
NM_000090.4(COL3A1):c.3482G>T (p.Gly1161Val)
|
rs587779473
|
|
|
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg)
|
rs587779553
|
|
|
NM_000090.4(COL3A1):c.3490G>C (p.Gly1164Arg)
|
rs587779553
|
|
|
NM_000090.4(COL3A1):c.3490G>T (p.Gly1164Trp)
|
rs587779553
|
|
|
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)
|
rs587779431
|
|
|
NM_000090.4(COL3A1):c.3491G>T (p.Gly1164Val)
|
rs587779431
|
|
|
NM_000090.4(COL3A1):c.3492G>T (p.Gly1164=)
|
rs750595642
|
|
|
NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu)
|
rs763107572
|
|
|
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)
|
rs587779646
|
|
|
NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro)
|
|
|
|
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg)
|
rs587779609
|
|
|
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys)
|
rs587779609
|
|
|
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr)
|
rs1559052973
|
|
|
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)
|
rs587779578
|
|
|
NM_000090.4(COL3A1):c.3500G>T (p.Gly1167Val)
|
rs587779578
|
|
|
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=)
|
rs546664098
|
|
|
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)
|
rs587779482
|
|
|
NM_000090.4(COL3A1):c.3509G>A (p.Gly1170Asp)
|
rs587779465
|
|
|
NM_000090.4(COL3A1):c.3509G>T (p.Gly1170Val)
|
rs587779465
|
|
|
NM_000090.4(COL3A1):c.350C>T (p.Pro117Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3515G>C (p.Arg1172Thr)
|
rs1553509668
|
|
|
NM_000090.4(COL3A1):c.3517G>A (p.Gly1173Arg)
|
rs587779521
|
|
|
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)
|
rs121912918
|
|
|
NM_000090.4(COL3A1):c.3518G>T (p.Gly1173Val)
|
rs121912918
|
|
|
NM_000090.4(COL3A1):c.3522T>A (p.Ser1174=)
|
rs1576472993
|
|
|
NM_000090.4(COL3A1):c.3523G>A (p.Glu1175Lys)
|
rs1688638293
|
|
|
NM_000090.4(COL3A1):c.3524A>C (p.Glu1175Ala)
|
rs2153503986
|
|
|
NM_000090.4(COL3A1):c.3525+3A>C
|
rs1553509674
|
|
|
NM_000090.4(COL3A1):c.3526-17T>C
|
|
|
|
NM_000090.4(COL3A1):c.3526-1G>C
|
|
|
|
NM_000090.4(COL3A1):c.3526-7A>G
|
rs2153504067
|
|
|
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp)
|
rs1553509726
|
|
|
NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu)
|
rs587779669
|
|
|
NM_000090.4(COL3A1):c.3529T>A (p.Ser1177Thr)
|
rs1006132401
|
|
|
NM_000090.4(COL3A1):c.3531C>T (p.Ser1177=)
|
rs1348518346
|
|
|
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln)
|
rs2153504073
|
|
|
NM_000090.4(COL3A1):c.3535G>C (p.Gly1179Arg)
|
rs587779574
|
|
|
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val)
|
rs587779627
|
|
|
NM_000090.4(COL3A1):c.3538C>T (p.His1180Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.3544G>A (p.Gly1182Arg)
|
rs587779683
|
|
|
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu)
|
rs111505097
|
|
|
NM_000090.4(COL3A1):c.3545G>T (p.Gly1182Val)
|
rs111505097
|
|
|
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)
|
rs121912917
|
|
|
NM_000090.4(COL3A1):c.3554G>T (p.Gly1185Val)
|
rs121912917
|
|
|
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser)
|
rs2153504076
|
|
|
NM_000090.4(COL3A1):c.3560C>A (p.Pro1187His)
|
|
|
|
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg)
|
rs587779504
|
|
|
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)
|
rs112456072
|
|
|
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
|
rs1324996402
|
|
|
NM_000090.4(COL3A1):c.3570T>A (p.Pro1190=)
|
|
|
|
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp)
|
rs587779703
|
|
|
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
|
|
|
|
NM_000090.4(COL3A1):c.3575_3576insAGGG (p.Pro1193fs)
|
rs587779712
|
|
|
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser)
|
rs1275851079
|
|
|
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp)
|
rs1553509744
|
|
|
NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser)
|
rs2153504081
|
|
|
NM_000090.4(COL3A1):c.3592G>A (p.Gly1198Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr)
|
rs1270244946
|
|
|
NM_000090.4(COL3A1):c.3604G>T (p.Ala1202Ser)
|
rs1270244946
|
|
|
NM_000090.4(COL3A1):c.360T>C (p.Asn120=)
|
rs2153501472
|
|
|
NM_000090.4(COL3A1):c.3616G>T (p.Ala1206Ser)
|
rs2153504088
|
|
|
NM_000090.4(COL3A1):c.3619G>A (p.Gly1207Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3640G>A (p.Gly1214Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=)
|
rs35759441
|
|
|
NM_000090.4(COL3A1):c.3656A>G (p.Tyr1219Cys)
|
|
|
|
NM_000090.4(COL3A1):c.366C>T (p.Asp122=)
|
rs749038976
|
|
|
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=)
|
rs1204937173
|
|
|
NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=)
|
rs1688661575
|
|
|
NM_000090.4(COL3A1):c.3693C>T (p.Thr1231=)
|
rs368556405
|
|
|
NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His)
|
|
|
|
NM_000090.4(COL3A1):c.3695A>G (p.Asp1232Gly)
|
|
|
|
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=)
|
rs1332611074
|
|
|
NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys)
|
|
|
|
NM_000090.4(COL3A1):c.36T>G (p.Leu12=)
|
|
|
|
NM_000090.4(COL3A1):c.3702T>C (p.Ile1234=)
|
rs1576473508
|
|
|
NM_000090.4(COL3A1):c.3710C>T (p.Ser1237Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3729A>G (p.Gly1243=)
|
|
|
|
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=)
|
rs1688663238
|
|
|
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs)
|
rs1688663336
|
|
|
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3749G>A (p.Ser1250Asn)
|
|
|
|
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3753T>C (p.Pro1251=)
|
|
|
|
NM_000090.4(COL3A1):c.3756T>G (p.Asp1252Glu)
|
|
|
|
NM_000090.4(COL3A1):c.3757G>A (p.Gly1253Ser)
|
rs1447586307
|
|
|
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu)
|
rs368119434
|
|
|
NM_000090.4(COL3A1):c.3795G>T (p.Leu1265=)
|
|
|
|
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln)
|
rs946156674
|
|
|
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser)
|
rs1194692141
|
|
|
NM_000090.4(COL3A1):c.3806A>G (p.His1269Arg)
|
rs751092650
|
|
|
NM_000090.4(COL3A1):c.380G>A (p.Gly127Glu)
|
rs2153501474
|
|
|
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=)
|
rs754340753
|
|
|
NM_000090.4(COL3A1):c.3819G>A (p.Lys1273=)
|
rs1219896056
|
|
|
NM_000090.4(COL3A1):c.3823+10G>C
|
rs2153504121
|
|
|
NM_000090.4(COL3A1):c.3823+11T>C
|
|
|
|
NM_000090.4(COL3A1):c.3823+13G>A
|
|
|
|
NM_000090.4(COL3A1):c.3823+15C>T
|
|
|
|
NM_000090.4(COL3A1):c.3823+16T>G
|
|
|
|
NM_000090.4(COL3A1):c.3823+17_3823+18del
|
rs2153504125
|
|
|
NM_000090.4(COL3A1):c.3823+1G>T
|
rs1576473641
|
|
|
NM_000090.4(COL3A1):c.3823+4T>C
|
|
|
|
NM_000090.4(COL3A1):c.3823+8T>C
|
|
|
|
NM_000090.4(COL3A1):c.3824-13T>C
|
|
|
|
NM_000090.4(COL3A1):c.3824-13dup
|
|
|
|
NM_000090.4(COL3A1):c.3824-18T>C
|
|
|
|
NM_000090.4(COL3A1):c.3824-6A>C
|
rs751180610
|
|
|
NM_000090.4(COL3A1):c.3831C>T (p.Tyr1277=)
|
|
|
|
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter)
|
rs1060500187
|
|
|
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3839A>C (p.Asp1280Ala)
|
rs2153504230
|
|
|
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala)
|
rs759132286
|
|
|
NM_000090.4(COL3A1):c.3847C>T (p.Gln1283Ter)
|
rs587779467
|
|
|
NM_000090.4(COL3A1):c.3850G>A (p.Gly1284Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3852A>T (p.Gly1284=)
|
|
|
|
NM_000090.4(COL3A1):c.3863A>T (p.Asp1288Val)
|
rs587779658
|
|
|
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu)
|
rs757734757
|
|
|
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr)
|
rs1688690716
|
|
|
NM_000090.4(COL3A1):c.3873G>A (p.Lys1291=)
|
rs1688690801
|
|
|
NM_000090.4(COL3A1):c.3876A>G (p.Val1292=)
|
|
|
|
NM_000090.4(COL3A1):c.3885T>A (p.Asn1295Lys)
|
|
|
|
NM_000090.4(COL3A1):c.3885T>C (p.Asn1295=)
|
|
|
|
NM_000090.4(COL3A1):c.3885T>G (p.Asn1295Lys)
|
|
|
|
NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3890A>C (p.Glu1297Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3907A>T (p.Ile1303Leu)
|
|
|
|
NM_000090.4(COL3A1):c.390G>T (p.Gly130=)
|
rs771480377
|
|
|
NM_000090.4(COL3A1):c.3911G>C (p.Ser1304Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser)
|
rs1688691968
|
|
|
NM_000090.4(COL3A1):c.3914C>G (p.Ala1305Gly)
|
rs1060500197
|
|
|
NM_000090.4(COL3A1):c.3926A>G (p.Asn1309Ser)
|
rs1060500201
|
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
|
NM_000090.4(COL3A1):c.393C>T (p.Ser131=)
|
rs1688052638
|
|
|
NM_000090.4(COL3A1):c.3957T>C (p.Ser1319=)
|
|
|
|
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)
|
rs560861999
|
|
|
NM_000090.4(COL3A1):c.3966del (p.Lys1323fs)
|
rs587779490
|
|
|
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn)
|
rs2153504249
|
|
|
NM_000090.4(COL3A1):c.396del (p.Gly133fs)
|
|
|
|
NM_000090.4(COL3A1):c.3971A>G (p.Lys1324Arg)
|
rs2153504251
|
|
|
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=)
|
rs749456336
|
|
|
NM_000090.4(COL3A1):c.3985G>C (p.Gly1329Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3989del (p.Glu1330fs)
|
rs587779647
|
|
|
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr)
|
rs1688694132
|
|
|
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly)
|
rs376651720
|
|
|
NM_000090.4(COL3A1):c.39C>G (p.Leu13=)
|
rs1343634872
|
|
|
NM_000090.4(COL3A1):c.4001G>T (p.Gly1334Val)
|
|
|
|
NM_000090.4(COL3A1):c.4007T>G (p.Phe1336Cys)
|
|
|
|
NM_000090.4(COL3A1):c.4008dup (p.Gln1337fs)
|
|
|
|
NM_000090.4(COL3A1):c.4011+16C>A
|
|
|
|
NM_000090.4(COL3A1):c.4011+17del
|
|
|
|
NM_000090.4(COL3A1):c.4011+1G>A
|
|
|
|
NM_000090.4(COL3A1):c.4011+1G>T
|
rs112532745
|
|
|
NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His)
|
|
|
|
NM_000090.4(COL3A1):c.4012-11C>A
|
|
|
|
NM_000090.4(COL3A1):c.4012-2A>G
|
rs1559063681
|
|
|
NM_000090.4(COL3A1):c.4015A>G (p.Ser1339Gly)
|
|
|
|
NM_000090.4(COL3A1):c.4017C>G (p.Ser1339Arg)
|
|
|
|
NM_000090.4(COL3A1):c.401C>T (p.Ser134Phe)
|
|
|
|
NM_000090.4(COL3A1):c.4023C>T (p.Gly1341=)
|
|
|
|
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)
|
rs1688703417
|
|
|
NM_000090.4(COL3A1):c.4046T>G (p.Val1349Gly)
|
|
|
|
NM_000090.4(COL3A1):c.4047C>T (p.Val1349=)
|
|
|
|
NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=)
|
rs1016578152
|
|
|
NM_000090.4(COL3A1):c.4065A>G (p.Ala1355=)
|
rs778893289
|
|
|
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val)
|
rs945183835
|
|
|
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg)
|
rs387906557
|
|
|
NM_000090.4(COL3A1):c.4071T>G (p.Leu1357=)
|
rs1576474355
|
|
|
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)
|
rs794728057
|
|
|
NM_000090.4(COL3A1):c.4078C>A (p.Leu1360Ile)
|
|
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
|
NM_000090.4(COL3A1):c.408C>G (p.Gly136=)
|
rs762388691
|
|
|
NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter)
|
rs863224860
|
|
|
NM_000090.4(COL3A1):c.4097A>G (p.Gln1366Arg)
|
|
|
|
NM_000090.4(COL3A1):c.409C>A (p.Pro137Thr)
|
rs1553506950
|
|
|
NM_000090.4(COL3A1):c.409C>T (p.Pro137Ser)
|
|
|
|
NM_000090.4(COL3A1):c.4102A>G (p.Ile1368Val)
|
rs2153504325
|
|
|
NM_000090.4(COL3A1):c.4108T>C (p.Tyr1370His)
|
rs2153504327
|
|
|
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=)
|
rs560478513
|
|
|
NM_000090.4(COL3A1):c.4135A>G (p.Met1379Val)
|
rs1060500196
|
|
|
NM_000090.4(COL3A1):c.413del (p.Pro138fs)
|
rs587779707
|
|
|
NM_000090.4(COL3A1):c.413dup (p.Gly139fs)
|
rs587779707
|
|
|
NM_000090.4(COL3A1):c.4142A>G (p.Gln1381Arg)
|
rs886055334
|
|
|
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His)
|
rs1029608155
|
|
|
NM_000090.4(COL3A1):c.4148G>A (p.Ser1383Asn)
|
|
|
|
NM_000090.4(COL3A1):c.414T>C (p.Pro138=)
|
|
|
|
NM_000090.4(COL3A1):c.4151G>A (p.Gly1384Glu)
|
|
|
|
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)
|
rs1158116878
|
|
|
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
|
|
|
|
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys)
|
rs768168922
|
|
|
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=)
|
rs1054676420
|
|
|
NM_000090.4(COL3A1):c.4205C>A (p.Ala1402Asp)
|
rs1688708521
|
|
|
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
|
|
|
|
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu)
|
rs549672243
|
|
|
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs)
|
|
|
|
NM_000090.4(COL3A1):c.4254+10A>T
|
|
|
|
NM_000090.4(COL3A1):c.4254+15T>G
|
|
|
|
NM_000090.4(COL3A1):c.4254+16C>T
|
|
|
|
NM_000090.4(COL3A1):c.4254+18C>T
|
|
|
|
NM_000090.4(COL3A1):c.4254+20A>G
|
|
|
|
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)
|
rs587779565
|
|
|
NM_000090.4(COL3A1):c.4255-10T>G
|
|
|
|
NM_000090.4(COL3A1):c.4255-11C>G
|
|
|
|
NM_000090.4(COL3A1):c.4255-13T>C
|
|
|
|
NM_000090.4(COL3A1):c.4255-16T>G
|
|
|
|
NM_000090.4(COL3A1):c.4255-18T>C
|
|
|
|
NM_000090.4(COL3A1):c.4255-1G>T
|
rs1688728266
|
|
|
NM_000090.4(COL3A1):c.4255-20C>T
|
rs1480528969
|
|
|
NM_000090.4(COL3A1):c.4255-8T>A
|
rs2153504438
|
|
|
NM_000090.4(COL3A1):c.4255-9T>G
|
|
|
|
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn)
|
rs754723643
|
|
|
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=)
|
rs1553509998
|
|
|
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter)
|
rs1553510000
|
|
|
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter)
|
|
|
|
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg)
|
rs1688728943
|
|
|
NM_000090.4(COL3A1):c.4275C>G (p.Ser1425Arg)
|
rs1688728943
|
|
|
NM_000090.4(COL3A1):c.4283T>C (p.Val1428Ala)
|
|
|
|
NM_000090.4(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer)
|
rs587779719
|
|
|
NM_000090.4(COL3A1):c.4290A>C (p.Glu1430Asp)
|
|
|
|
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter)
|
rs587779585
|
|
|
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln)
|
rs772428340
|
|
|
NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile)
|
|
|
|
NM_000090.4(COL3A1):c.4303A>G (p.Lys1435Glu)
|
rs2153504447
|
|
|
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro)
|
rs148015311
|
|
|
NM_000090.4(COL3A1):c.4311G>C (p.Val1437=)
|
rs1688730215
|
|
|
NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu)
|
rs1553510005
|
|
|
NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs)
|
rs2153504449
|
|
|
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs)
|
rs1688730568
|
|
|
NM_000090.4(COL3A1):c.4327G>A (p.Asp1443Asn)
|
rs1553510008
|
|
|
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=)
|
rs1285255181
|
|
|
NM_000090.4(COL3A1):c.4334C>A (p.Ala1445Glu)
|
|
|
|
NM_000090.4(COL3A1):c.4351G>C (p.Gly1451Arg)
|
rs1688731786
|
|
|
NM_000090.4(COL3A1):c.435T>A (p.Pro145=)
|
rs1060503875
|
|
|
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter)
|
rs1576474929
|
|
|
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=)
|
rs1688732280
|
|
|
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
|
|
|
|
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu)
|
rs1688732322
|
|
|
NM_000090.4(COL3A1):c.436A>G (p.Thr146Ala)
|
|
|
|
NM_000090.4(COL3A1):c.4370G>A (p.Gly1457Asp)
|
rs1688732362
|
|
|
NM_000090.4(COL3A1):c.4373T>G (p.Val1458Gly)
|
|
|
|
NM_000090.4(COL3A1):c.4377C>T (p.Asp1459=)
|
rs754741078
|
|
|
NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val)
|
rs1576474944
|
|
|
NM_000090.4(COL3A1):c.4392C>T (p.Cys1464=)
|
|
|
|
NM_000090.4(COL3A1):c.4394T>C (p.Phe1465Ser)
|
rs1553510018
|
|
|
NM_000090.4(COL3A1):c.4396T>C (p.Leu1466=)
|
|
|
|
NM_000090.4(COL3A1):c.4399T>C (p.Ter1467Gln)
|
rs587779618
|
|
|
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
|
|
|
|
NM_000090.4(COL3A1):c.443C>T (p.Pro148Leu)
|
|
|
|
NM_000090.4(COL3A1):c.447+12dup
|
|
|
|
NM_000090.4(COL3A1):c.447+14G>A
|
|
|
|
NM_000090.4(COL3A1):c.447+7C>A
|
|
|
|
NM_000090.4(COL3A1):c.447G>A (p.Gln149=)
|
|
|
|
NM_000090.4(COL3A1):c.448-11C>T
|
rs766622043
|
|
|
NM_000090.4(COL3A1):c.448-17T>C
|
|
|
|
NM_000090.4(COL3A1):c.448-1G>T
|
rs1688078187
|
|
|
NM_000090.4(COL3A1):c.448-6C>T
|
|
|
|
NM_000090.4(COL3A1):c.469T>A (p.Ser157Thr)
|
rs1576461726
|
|
|
NM_000090.4(COL3A1):c.473A>G (p.Tyr158Cys)
|
rs2153501637
|
|
|
NM_000090.4(COL3A1):c.477T>C (p.Asp159=)
|
|
|
|
NM_000090.4(COL3A1):c.488G>T (p.Gly163Val)
|
|
|
|
NM_000090.4(COL3A1):c.494C>A (p.Ala165Glu)
|
|
|
|
NM_000090.4(COL3A1):c.495A>G (p.Ala165=)
|
rs2153501641
|
|
|
NM_000090.4(COL3A1):c.498A>T (p.Val166=)
|
|
|
|
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)
|
rs1688079577
|
|
|
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)
|
|
|
|
NM_000090.4(COL3A1):c.500dup (p.Gly168fs)
|
|
|
|
NM_000090.4(COL3A1):c.507C>A (p.Leu169=)
|
|
|
|
NM_000090.4(COL3A1):c.507C>G (p.Leu169=)
|
rs142437505
|
|
|
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)
|
rs2153501643
|
|
|
NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys)
|
|
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
|
NM_000090.4(COL3A1):c.529-10C>A
|
rs2153501731
|
|
|
NM_000090.4(COL3A1):c.529-5T>G
|
rs886055329
|
|
|
NM_000090.4(COL3A1):c.529-8C>T
|
|
|
|
NM_000090.4(COL3A1):c.529-8del
|
|
|
|
NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser)
|
|
|
|
NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala)
|
rs2153501733
|
|
|
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)
|
rs2153501733
|
|
|
NM_000090.4(COL3A1):c.532C>T (p.Pro178Ser)
|
|
|
|
NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp)
|
rs587779714
|
|
|
NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg)
|
|
|
|
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu)
|
rs746628029
|
|
|
NM_000090.4(COL3A1):c.546C>A (p.Pro182=)
|
rs754584062
|
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp)
|
rs587779420
|
|
|
NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala)
|
rs587779420
|
|
|
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val)
|
rs587779420
|
|
|
NM_000090.4(COL3A1):c.552C>T (p.Pro184=)
|
rs1057521290
|
|
|
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala)
|
rs1688100904
|
|
|
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)
|
rs886038977
|
|
|
NM_000090.4(COL3A1):c.555T>C (p.Pro185=)
|
|
|
|
NM_000090.4(COL3A1):c.555del (p.Gly186fs)
|
rs587779451
|
|
|
NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser)
|
rs587779446
|
|
|
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
|
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
|
|
|
|
NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg)
|
rs587779507
|
|
|
NM_000090.4(COL3A1):c.568C>T (p.His190Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.570T>C (p.His190=)
|
rs2153501742
|
|
|
NM_000090.4(COL3A1):c.575G>T (p.Gly192Val)
|
rs587779710
|
|
|
NM_000090.4(COL3A1):c.582+10G>A
|
rs1553507200
|
|
|
NM_000090.4(COL3A1):c.582+14T>C
|
|
|
|
NM_000090.4(COL3A1):c.582+19G>A
|
|
|
|
NM_000090.4(COL3A1):c.582+1G>C
|
rs587779508
|
|
|
NM_000090.4(COL3A1):c.582+20G>A
|
|
|
|
NM_000090.4(COL3A1):c.582+2dup
|
rs587779524
|
|
|
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
|
|
|
|
NM_000090.4(COL3A1):c.582+5G>A
|
rs587779671
|
|
|
NM_000090.4(COL3A1):c.582+5G>T
|
rs587779671
|
|
|
NM_000090.4(COL3A1):c.582+5_582+11delinsACA
|
rs1559053784
|
|
|
NM_000090.4(COL3A1):c.582+6T>A
|
rs397509375
|
|
|
NM_000090.4(COL3A1):c.582+6T>C
|
rs397509375
|
|
|
NM_000090.4(COL3A1):c.582+6dup
|
|
|
|
NM_000090.4(COL3A1):c.583-11C>T
|
|
|
|
NM_000090.4(COL3A1):c.583-14A>T
|
|
|
|
NM_000090.4(COL3A1):c.583-16A>C
|
|
|
|
NM_000090.4(COL3A1):c.583-4C>G
|
|
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
|
NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg)
|
rs267599120
|
|
|
NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg)
|
rs267599120
|
|
|
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val)
|
rs1342128671
|
|
|
NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg)
|
rs587779601
|
|
|
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)
|
rs587779641
|
|
|
NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg)
|
rs587779436
|
|
|
NM_000090.4(COL3A1):c.608del (p.Pro203fs)
|
rs1553507265
|
|
|
NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser)
|
rs587779711
|
|
|
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)
|
rs587779626
|
|
|
NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup)
|
rs587779628
|
|
|
NM_000090.4(COL3A1):c.616C>T (p.Pro206Ser)
|
rs1688112134
|
|
|
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)
|
|
|
|
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp)
|
rs1553507274
|
|
|
NM_000090.4(COL3A1):c.620G>T (p.Gly207Val)
|
rs587779592
|
|
|
NM_000090.4(COL3A1):c.624A>G (p.Gln208=)
|
rs527415370
|
|
|
NM_000090.4(COL3A1):c.625G>A (p.Ala209Thr)
|
rs1688112510
|
|
|
NM_000090.4(COL3A1):c.629G>T (p.Gly210Val)
|
rs587779515
|
|
|
NM_000090.4(COL3A1):c.62T>A (p.Ile21Asn)
|
|
|
|
NM_000090.4(COL3A1):c.630T>A (p.Gly210=)
|
|
|
|
NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA
|
rs587779681
|
|
|
NM_000090.4(COL3A1):c.636+11A>G
|
|
|
|
NM_000090.4(COL3A1):c.636+12T>C
|
|
|
|
NM_000090.4(COL3A1):c.636+12_636+15del
|
|
|
|
NM_000090.4(COL3A1):c.636+17T>A
|
|
|
|
NM_000090.4(COL3A1):c.636+1G>A
|
rs587779676
|
|
|
NM_000090.4(COL3A1):c.636+5G>A
|
rs587779688
|
|
|
NM_000090.4(COL3A1):c.637-13T>C
|
|
|
|
NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser)
|
rs587779557
|
|
|
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)
|
rs2153501864
|
|
|
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu)
|
|
|
|
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)
|
rs587779596
|
|
|
NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del)
|
rs2153501869
|
|
|
NM_000090.4(COL3A1):c.650_1663-83del
|
|
|
|
NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys)
|
rs587779624
|
|
|
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp)
|
rs587779441
|
|
|
NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala)
|
rs587779441
|
|
|
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr)
|
|
|
|
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
|
|
|
|
NM_000090.4(COL3A1):c.662T>C (p.Ile221Thr)
|
|
|
|
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter)
|
|
|
|
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)
|
rs587779518
|
|
|
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val)
|
rs587779518
|
|
|
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala)
|
rs1325737333
|
|
|
NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp)
|
rs587779533
|
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
|
NM_000090.4(COL3A1):c.674G>T (p.Gly225Val)
|
rs587779533
|
|
|
NM_000090.4(COL3A1):c.676C>T (p.Pro226Ser)
|
|
|
|
NM_000090.4(COL3A1):c.677C>T (p.Pro226Leu)
|
|
|
|
NM_000090.4(COL3A1):c.678T>C (p.Pro226=)
|
|
|
|
NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg)
|
rs587779470
|
|
|
NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu)
|
rs587779555
|
|
|
NM_000090.4(COL3A1):c.690+11A>G
|
|
|
|
NM_000090.4(COL3A1):c.690+12A>G
|
|
|
|
NM_000090.4(COL3A1):c.690+1G>A
|
rs587779660
|
|
|
NM_000090.4(COL3A1):c.690+2T>A
|
rs587779497
|
|
|
NM_000090.4(COL3A1):c.690+2T>G
|
rs587779497
|
|
|
NM_000090.4(COL3A1):c.690+7T>C
|
rs2153501873
|
|
|
NM_000090.4(COL3A1):c.691-13T>A
|
|
|
|
NM_000090.4(COL3A1):c.691-15T>C
|
|
|
|
NM_000090.4(COL3A1):c.691-1G>A
|
|
|
|
NM_000090.4(COL3A1):c.691-27_691-8del
|
|
|
|
NM_000090.4(COL3A1):c.691-2A>G
|
rs1576463100
|
|
|
NM_000090.4(COL3A1):c.691-4C>G
|
|
|
|
NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter)
|
rs2153501942
|
|
|
NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp)
|
rs587779656
|
|
|
NM_000090.4(COL3A1):c.707C>G (p.Pro236Arg)
|
rs1688155159
|
|
|
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
|
|
|
|
NM_000090.4(COL3A1):c.708C>G (p.Pro236=)
|
rs775390389
|
|
|
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg)
|
rs587779625
|
|
|
NM_000090.4(COL3A1):c.711A>G (p.Gly237=)
|
rs2153501949
|
|
|
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)
|
rs1393544920
|
|
|
NM_000090.4(COL3A1):c.718G>C (p.Gly240Arg)
|
rs587779468
|
|
|
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)
|
rs1553507432
|
|
|
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly)
|
rs1333421028
|
|
|
NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg)
|
|
|
|
NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu)
|
rs587779629
|
|
|
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val)
|
rs587779629
|
|
|
NM_000090.4(COL3A1):c.729A>G (p.Gly243=)
|
|
|
|
NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu)
|
rs587779570
|
|
|
NM_000090.4(COL3A1):c.740C>T (p.Pro247Leu)
|
|
|
|
NM_000090.4(COL3A1):c.744+10C>T
|
|
|
|
NM_000090.4(COL3A1):c.744+20T>C
|
|
|
|
NM_000090.4(COL3A1):c.745-18T>G
|
|
|
|
NM_000090.4(COL3A1):c.745-3T>C
|
|
|
|
NM_000090.4(COL3A1):c.745-3T>G
|
|
|
|
NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser)
|
rs2153501969
|
|
|
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)
|
rs121912927
|
|
|
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val)
|
rs121912927
|
|
|
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)
|
rs748787122
|
|
|
NM_000090.4(COL3A1):c.751A>G (p.Lys251Glu)
|
|
|
|
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)
|
|
|
|
NM_000090.4(COL3A1):c.754G>C (p.Gly252Arg)
|
rs587779705
|
|
|
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)
|
rs587779705
|
|
|
NM_000090.4(COL3A1):c.755G>A (p.Gly252Asp)
|
rs587779464
|
|
|
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val)
|
rs587779464
|
|
|
NM_000090.4(COL3A1):c.764G>A (p.Gly255Glu)
|
rs587779605
|
|
|
NM_000090.4(COL3A1):c.764G>T (p.Gly255Val)
|
rs587779605
|
|
|
NM_000090.4(COL3A1):c.766del (p.Ile256fs)
|
rs587779455
|
|
|
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)
|
rs1559054653
|
|
|
NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu)
|
|
|
|
NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg)
|
rs2153501976
|
|
|
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp)
|
rs587779635
|
|
|
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
|
rs1688161240
|
|
|
NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu)
|
|
|
|
NM_000090.4(COL3A1):c.79+16T>C
|
rs2153500033
|
|
|
NM_000090.4(COL3A1):c.79+2_79+3dup
|
rs1687768135
|
|
|
NM_000090.4(COL3A1):c.79+4A>G
|
|
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
|
NM_000090.4(COL3A1):c.798+14C>T
|
|
|
|
NM_000090.4(COL3A1):c.798+1G>A
|
rs587779463
|
|
|
NM_000090.4(COL3A1):c.798+4A>C
|
|
|
|
NM_000090.4(COL3A1):c.798+6T>C
|
|
|
|
NM_000090.4(COL3A1):c.798+8G>C
|
|
|
|
NM_000090.4(COL3A1):c.799-14T>C
|
|
|
|
NM_000090.4(COL3A1):c.799-6del
|
rs767927599
|
|
|
NM_000090.4(COL3A1):c.799G>A (p.Gly267Ser)
|
rs587779718
|
|
|
NM_000090.4(COL3A1):c.80-14_80-6dup
|
|
|
|
NM_000090.4(COL3A1):c.80-18A>T
|
rs1483636821
|
|
|
NM_000090.4(COL3A1):c.80-1G>C
|
rs1559052551
|
|
|
NM_000090.4(COL3A1):c.80-2A>T
|
rs2153501340
|
|
|
NM_000090.4(COL3A1):c.80-9G>C
|
|
|
|
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val)
|
rs587779427
|
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
|
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)
|
rs1057521106
|
|
|
NM_000090.4(COL3A1):c.815A>G (p.Asn272Ser)
|
|
|
|
NM_000090.4(COL3A1):c.817G>T (p.Gly273Ter)
|
rs2153502051
|
|
|
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
|
|
|
|
NM_000090.4(COL3A1):c.81del (p.Val28fs)
|
rs1060500200
|
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
|
NM_000090.4(COL3A1):c.825G>C (p.Lys275Asn)
|
|
|
|
NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser)
|
rs1576463632
|
|
|
NM_000090.4(COL3A1):c.827G>A (p.Gly276Asp)
|
rs587779644
|
|
|
NM_000090.4(COL3A1):c.827G>T (p.Gly276Val)
|
rs587779644
|
|
|
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp)
|
rs587779593
|
|
|
NM_000090.4(COL3A1):c.840T>A (p.Ala280=)
|
rs1576463659
|
|
|
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
|
|
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
|
NM_000090.4(COL3A1):c.844G>A (p.Gly282Arg)
|
rs587779531
|
|
|
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val)
|
rs1576463663
|
|
|
NM_000090.4(COL3A1):c.852+16A>T
|
|
|
|
NM_000090.4(COL3A1):c.852+19C>A
|
|
|
|
NM_000090.4(COL3A1):c.852+1G>A
|
|
|
|
NM_000090.4(COL3A1):c.852+20A>G
|
rs1319479140
|
|
|
NM_000090.4(COL3A1):c.852+20A>T
|
|
|
|
NM_000090.4(COL3A1):c.852+3A>G
|
|
|
|
NM_000090.4(COL3A1):c.853-19A>G
|
|
|
|
NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser)
|
rs1333066574
|
|
|
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
|
|
|
|
NM_000090.4(COL3A1):c.86_88del (p.Glu29del)
|
rs1559052566
|
|
|
NM_000090.4(COL3A1):c.873C>A (p.Gly291=)
|
rs138569287
|
|
|
NM_000090.4(COL3A1):c.873C>G (p.Gly291=)
|
|
|
|
NM_000090.4(COL3A1):c.876A>G (p.Glu292=)
|
|
|
|
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp)
|
rs1131691328
|
|
|
NM_000090.4(COL3A1):c.87A>G (p.Glu29=)
|
|
|
|
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg)
|
rs2153502094
|
|
|
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)
|
rs1553507557
|
|
|
NM_000090.4(COL3A1):c.895A>G (p.Met299Val)
|
|
|
|
NM_000090.4(COL3A1):c.897+12T>A
|
|
|
|
NM_000090.4(COL3A1):c.897+15T>G
|
|
|
|
NM_000090.4(COL3A1):c.897+17T>C
|
|
|
|
NM_000090.4(COL3A1):c.897+1G>A
|
rs1057518372
|
|
|
NM_000090.4(COL3A1):c.897+20A>G
|
|
|
|
NM_000090.4(COL3A1):c.897+20del
|
|
|
|
NM_000090.4(COL3A1):c.898-19T>C
|
|
|
|
NM_000090.4(COL3A1):c.898-1G>C
|
rs587779556
|
|
|
NM_000090.4(COL3A1):c.898-4G>T
|
|
|
|
NM_000090.4(COL3A1):c.898-8C>T
|
rs766564882
|
|
|
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg)
|
rs587779481
|
|
|
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp)
|
rs587779440
|
|
|
NM_000090.4(COL3A1):c.899G>T (p.Gly300Val)
|
rs587779440
|
|
|
NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg)
|
rs121912919
|
|
|
NM_000090.4(COL3A1):c.910G>T (p.Ala304Ser)
|
|
|
|
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)
|
rs1204385773
|
|
|
NM_000090.4(COL3A1):c.915T>G (p.Pro305=)
|
rs2153502119
|
|
|
NM_000090.4(COL3A1):c.922C>T (p.Arg308Ter)
|
|
|
|
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu)
|
rs113871730
|
|
|
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)
|
rs772827388
|
|
|
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala)
|
rs587779487
|
|
|
NM_000090.4(COL3A1):c.944G>T (p.Gly315Val)
|
rs587779487
|
|
|
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)
|
rs958176385
|
|
|
NM_000090.4(COL3A1):c.948T>A (p.Ala316=)
|
rs1688194214
|
|
|
NM_000090.4(COL3A1):c.951+10G>C
|
|
|
|
NM_000090.4(COL3A1):c.951+18C>T
|
|
|
|
NM_000090.4(COL3A1):c.951+19A>T
|
|
|
|
NM_000090.4(COL3A1):c.951+1G>A
|
rs587779652
|
|
|
NM_000090.4(COL3A1):c.951+2T>A
|
rs587779426
|
|
|
NM_000090.4(COL3A1):c.951+2T>C
|
rs587779426
|
|
|
NM_000090.4(COL3A1):c.951+3G>T
|
rs587779452
|
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
|
NM_000090.4(COL3A1):c.951+4_951+5del
|
rs1559055162
|
|
|
NM_000090.4(COL3A1):c.951+5G>A
|
rs587779422
|
|
|
NM_000090.4(COL3A1):c.951+6T>A
|
rs587779423
|
|
|
NM_000090.4(COL3A1):c.951+6T>C
|
rs587779423
|
|
|
NM_000090.4(COL3A1):c.951+7A>G
|
|
|
|
NM_000090.4(COL3A1):c.951_951+14del
|
rs587779425
|
|
|
NM_000090.4(COL3A1):c.952-14A>C
|
rs2153502162
|
|
|
NM_000090.4(COL3A1):c.952-2del
|
rs2153502163
|
|
|
NM_000090.4(COL3A1):c.952-6T>C
|
rs1576464133
|
|
|
NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys)
|
|
|
|
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)
|
rs1553507614
|
|
|
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs)
|
rs587779655
|
|
|
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln)
|
rs778179067
|
|
|
NM_000090.4(COL3A1):c.961G>A (p.Gly321Ser)
|
rs1688203788
|
|
|
NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp)
|
rs587779588
|
|
|
NM_000090.4(COL3A1):c.962_963insAAATGACGGTGCTCGAGG (p.Gly327_Ser328insAsnAspGlyAlaArgGly)
|
|
|
|
NM_000090.4(COL3A1):c.963T>C (p.Gly321=)
|
rs771292385
|
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
|
NM_000090.4(COL3A1):c.971G>T (p.Gly324Val)
|
rs2153502168
|
|
|
NM_000090.4(COL3A1):c.972T>C (p.Gly324=)
|
rs2153502169
|
|
|
NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter)
|
rs587779607
|
|
|
NM_000090.4(COL3A1):c.977G>A (p.Arg326Gln)
|
|
|
|
NM_000090.4(COL3A1):c.981C>G (p.Gly327=)
|
|
|
|
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
|
|
|
|
NM_000090.4(COL3A1):c.996+10T>A
|
rs369957068
|
|
|
NM_000090.4(COL3A1):c.996+10T>C
|
rs369957068
|
|
|
NM_000090.4(COL3A1):c.996+13C>T
|
|
|
|
NM_000090.4(COL3A1):c.996+1G>A
|
rs587779516
|
|
|
NM_000090.4(COL3A1):c.996+2T>A
|
rs587779649
|
|
|
NM_000090.4(COL3A1):c.997-10A>G
|
rs587779670
|
|
|
NM_000090.4(COL3A1):c.997-15A>G
|
|
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|
|
NM_000090.4(COL3A1):c.997-1G>T
|
rs587779687
|
|
|
NM_000090.4(COL3A1):c.997-2A>G
|
rs587779602
|
|
|
NM_000090.4(COL3A1):c.997-4T>G
|
rs2153502225
|
|
|
NM_000090.4(COL3A1):c.997-8T>C
|
rs2153502224
|
|
|
NM_000090.4(COL3A1):c.997-9T>A
|
rs1278617595
|
|
|
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg)
|
rs1688217136
|
|
|
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)
|
rs587779673
|
|
|
NM_000093.4(COL5A1):c.2389delG
|
rs1564453833
|
|
|
NM_000093.4(COL5A1):c.2594dup
|
rs1837444858
|
|
|
NM_000093.4(COL5A1):c.3369_3431dup
|
rs1838416489
|
|
|
NM_000093.4(COL5A1):c.3746delG
|
rs35002351
|
|
|
NM_000093.4(COL5A1):c.4232delG
|
rs1060502259
|
|
|
NM_000093.4(COL5A1):c.4339-1delG
|
rs786205102
|
|
|
NM_000093.4(COL5A1):c.4646dupG
|
rs2132879262
|
|
|
NM_000093.5(COL5A1):c.*1047_*1049dup
|
rs886063686
|
|
|
NM_000093.5(COL5A1):c.*1086ATCT[1]
|
rs16399
|
|
|
NM_000093.5(COL5A1):c.*1653dup
|
rs541530510
|
|
|
NM_000093.5(COL5A1):c.*173C>T
|
rs886063680
|
|
|
NM_000093.5(COL5A1):c.*1807G>C
|
rs374715103
|
|
|
NM_000093.5(COL5A1):c.*1849ACAA[3]
|
rs886063691
|
|
|
NM_000093.5(COL5A1):c.*2252T>C
|
rs529530286
|
|
|
NM_000093.5(COL5A1):c.*235C>T
|
rs886063681
|
|
|
NM_000093.5(COL5A1):c.*700G>C
|
rs750272409
|
|
|
NM_000093.5(COL5A1):c.*727dup
|
rs1554727609
|
|
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
|
NM_000093.5(COL5A1):c.*865dup
|
rs57599653
|
|
|
NM_000093.5(COL5A1):c.*866_*867insTAG
|
rs886063684
|
|
|
NM_000093.5(COL5A1):c.*867_*868insATAGG
|
rs1554727637
|
|
|
NM_000093.5(COL5A1):c.*870_*873dup
|
rs10628678
|
|
|
NM_000093.5(COL5A1):c.*948C>G
|
rs142032213
|
|
|
NM_000093.5(COL5A1):c.-276AGG[7]
|
rs886063671
|
|
|
NM_000093.5(COL5A1):c.-287G>C
|
rs886063670
|
|
|
NM_000093.5(COL5A1):c.-357G>T
|
rs886063669
|
|
|
NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1008G>A (p.Gly336=)
|
rs2132639237
|
|
|
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu)
|
rs1834832160
|
|
|
NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys)
|
|
|
|
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=)
|
|
|
|
NM_000093.5(COL5A1):c.1023G>A (p.Val341=)
|
|
|
|
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)
|
rs1339426358
|
|
|
NM_000093.5(COL5A1):c.1044G>T (p.Thr348=)
|
rs1246095864
|
|
|
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)
|
rs1588479393
|
|
|
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)
|
|
|
|
NM_000093.5(COL5A1):c.104G>A (p.Arg35His)
|
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
|
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu)
|
rs887190843
|
|
|
NM_000093.5(COL5A1):c.1057G>C (p.Asp353His)
|
|
|
|
NM_000093.5(COL5A1):c.105del (p.Ala36fs)
|
rs2132455125
|
|
|
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn)
|
rs1834835178
|
|
|
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
|
|
|
|
NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del)
|
|
|
|
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
|
|
|
|
NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln)
|
|
|
|
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter)
|
rs769752636
|
|
|
NM_000093.5(COL5A1):c.1077G>C (p.Glu359Asp)
|
|
|
|
NM_000093.5(COL5A1):c.1078G>A (p.Gly360Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp)
|
|
|
|
NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys)
|
|
|
|
NM_000093.5(COL5A1):c.1089C>T (p.Asn363=)
|
|
|
|
NM_000093.5(COL5A1):c.109+10C>A
|
rs2132455152
|
|
|
NM_000093.5(COL5A1):c.109+10C>T
|
rs2132455152
|
|
|
NM_000093.5(COL5A1):c.109+11C>G
|
|
|
|
NM_000093.5(COL5A1):c.109+14G>A
|
rs1831318716
|
|
|
NM_000093.5(COL5A1):c.109+16G>A
|
|
|
|
NM_000093.5(COL5A1):c.109+18C>A
|
|
|
|
NM_000093.5(COL5A1):c.109+7G>A
|
rs1429209325
|
|
|
NM_000093.5(COL5A1):c.1092C>A (p.Pro364=)
|
|
|
|
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
|
rs1834837756
|
|
|
NM_000093.5(COL5A1):c.1097A>G (p.Gln366Arg)
|
rs761227399
|
|
|
NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro)
|
rs2132455136
|
|
|
NM_000093.5(COL5A1):c.110-10G>A
|
rs746555918
|
|
|
NM_000093.5(COL5A1):c.110-14C>T
|
|
|
|
NM_000093.5(COL5A1):c.110-1G>C
|
rs1833255504
|
|
|
NM_000093.5(COL5A1):c.110-3C>G
|
rs1554780148
|
|
|
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu)
|
rs1834838212
|
|
|
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro)
|
rs766771487
|
|
|
NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val)
|
|
|
|
NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser)
|
rs1834838821
|
|
|
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=)
|
|
|
|
NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser)
|
rs755289850
|
|
|
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
|
|
|
|
NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp)
|
rs201829822
|
|
|
NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly)
|
|
|
|
NM_000093.5(COL5A1):c.1122C>G (p.Ala374=)
|
rs758640551
|
|
|
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His)
|
rs868555520
|
|
|
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)
|
|
|
|
NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.1161C>T (p.Ser387=)
|
|
|
|
NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp)
|
|
|
|
NM_000093.5(COL5A1):c.1164+13C>A
|
rs1298341224
|
|
|
NM_000093.5(COL5A1):c.1164+19A>G
|
rs1207484470
|
|
|
NM_000093.5(COL5A1):c.1164+19A>T
|
|
|
|
NM_000093.5(COL5A1):c.1164+8del
|
|
|
|
NM_000093.5(COL5A1):c.1165-11T>C
|
|
|
|
NM_000093.5(COL5A1):c.1165-14dup
|
|
|
|
NM_000093.5(COL5A1):c.1165-20G>A
|
|
|
|
NM_000093.5(COL5A1):c.1165-2_1169dup
|
rs2132641901
|
|
|
NM_000093.5(COL5A1):c.1165-4G>T
|
rs1834877909
|
|
|
NM_000093.5(COL5A1):c.1170T>G (p.Ala390=)
|
rs1588480757
|
|
|
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=)
|
|
|
|
NM_000093.5(COL5A1):c.1191G>A (p.Ala397=)
|
rs199755089
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
|
NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly)
|
|
|
|
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
|
rs1834879370
|
|
|
NM_000093.5(COL5A1):c.1197C>G (p.Asp399Glu)
|
|
|
|
NM_000093.5(COL5A1):c.1201G>C (p.Glu401Gln)
|
|
|
|
NM_000093.5(COL5A1):c.1204G>T (p.Gly402Trp)
|
|
|
|
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)
|
rs758197769
|
|
|
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=)
|
rs139406076
|
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
|
NM_000093.5(COL5A1):c.1224G>T (p.Thr408=)
|
rs139406076
|
|
|
NM_000093.5(COL5A1):c.1228C>G (p.Arg410Gly)
|
|
|
|
NM_000093.5(COL5A1):c.122A>G (p.Asp41Gly)
|
|
|
|
NM_000093.5(COL5A1):c.1239C>G (p.Asp413Glu)
|
rs775974461
|
|
|
NM_000093.5(COL5A1):c.1239_1241del (p.Asp413del)
|
rs2132642108
|
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])
|
rs745934765
|
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3])
|
rs745934765
|
|
|
NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn)
|
|
|
|
NM_000093.5(COL5A1):c.1266C>G (p.Asp422Glu)
|
|
|
|
NM_000093.5(COL5A1):c.126_128del (p.Leu43del)
|
rs1564390373
|
|
|
NM_000093.5(COL5A1):c.1271C>G (p.Thr424Ser)
|
rs752619850
|
|
|
NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn)
|
|
|
|
NM_000093.5(COL5A1):c.127C>T (p.Leu43=)
|
rs2132550837
|
|
|
NM_000093.5(COL5A1):c.1287G>T (p.Glu429Asp)
|
rs2132642256
|
|
|
NM_000093.5(COL5A1):c.128T>G (p.Leu43Arg)
|
rs2132550843
|
|
|
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=)
|
rs572136244
|
|
|
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
|
|
|
|
NM_000093.5(COL5A1):c.1298G>C (p.Gly433Ala)
|
rs2132642300
|
|
|
NM_000093.5(COL5A1):c.1305G>A (p.Pro435=)
|
|
|
|
NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val)
|
rs1060502244
|
|
|
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
|
|
|
|
NM_000093.5(COL5A1):c.1322T>C (p.Ile441Thr)
|
|
|
|
NM_000093.5(COL5A1):c.1332+3G>A
|
|
|
|
NM_000093.5(COL5A1):c.1332+5G>A
|
rs1564417882
|
|
|
NM_000093.5(COL5A1):c.1332+7G>A
|
rs1834886446
|
|
|
NM_000093.5(COL5A1):c.1333-11A>T
|
|
|
|
NM_000093.5(COL5A1):c.1333-19T>A
|
rs2132643213
|
|
|
NM_000093.5(COL5A1):c.1333-20C>T
|
|
|
|
NM_000093.5(COL5A1):c.1333-3dup
|
rs773903401
|
|
|
NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC
|
rs1588481731
|
|
|
NM_000093.5(COL5A1):c.1333-8A>C
|
rs145620416
|
|
|
NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val)
|
rs1060502243
|
|
|
NM_000093.5(COL5A1):c.1356A>G (p.Lys452=)
|
|
|
|
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1364del (p.Lys455fs)
|
rs1564418237
|
|
|
NM_000093.5(COL5A1):c.1374A>G (p.Pro458=)
|
|
|
|
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=)
|
rs746091599
|
|
|
NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met)
|
rs61736827
|
|
|
NM_000093.5(COL5A1):c.1384G>A (p.Glu462Lys)
|
rs761770226
|
|
|
NM_000093.5(COL5A1):c.1384G>C (p.Glu462Gln)
|
rs761770226
|
|
|
NM_000093.5(COL5A1):c.1387C>G (p.Pro463Ala)
|
|
|
|
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser)
|
rs368168386
|
|
|
NM_000093.5(COL5A1):c.1389+10T>C
|
rs2132643477
|
|
|
NM_000093.5(COL5A1):c.1389+15T>C
|
|
|
|
NM_000093.5(COL5A1):c.1389+17A>T
|
rs1298311702
|
|
|
NM_000093.5(COL5A1):c.1389+8C>G
|
|
|
|
NM_000093.5(COL5A1):c.1390-14C>G
|
|
|
|
NM_000093.5(COL5A1):c.1390-14C>T
|
rs750785912
|
|
|
NM_000093.5(COL5A1):c.1390-17T>C
|
|
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
|
NM_000093.5(COL5A1):c.1390-6C>T
|
rs1381061693
|
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
|
NM_000093.5(COL5A1):c.1402G>C (p.Glu468Gln)
|
|
|
|
NM_000093.5(COL5A1):c.1406_1407delinsAA (p.Gly469Glu)
|
|
|
|
NM_000093.5(COL5A1):c.1407C>T (p.Gly469=)
|
|
|
|
NM_000093.5(COL5A1):c.1410G>A (p.Pro470=)
|
rs148389741
|
|
|
NM_000093.5(COL5A1):c.1410G>C (p.Pro470=)
|
rs148389741
|
|
|
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr)
|
rs774936702
|
|
|
NM_000093.5(COL5A1):c.1429G>T (p.Ala477Ser)
|
rs774936702
|
|
|
NM_000093.5(COL5A1):c.1431+16del
|
rs2132655351
|
|
|
NM_000093.5(COL5A1):c.1431+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.1431+5G>C
|
rs1835185397
|
|
|
NM_000093.5(COL5A1):c.1432-18C>T
|
rs761261485
|
|
|
NM_000093.5(COL5A1):c.1432-8A>G
|
|
|
|
NM_000093.5(COL5A1):c.1432G>A (p.Gly478Ser)
|
|
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
|
NM_000093.5(COL5A1):c.1433G>C (p.Gly478Ala)
|
|
|
|
NM_000093.5(COL5A1):c.1435C>T (p.Leu479Phe)
|
|
|
|
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)
|
rs1835194865
|
|
|
NM_000093.5(COL5A1):c.1442G>T (p.Gly481Val)
|
rs1588488587
|
|
|
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu)
|
rs565329216
|
|
|
NM_000093.5(COL5A1):c.1454C>T (p.Thr485Ile)
|
|
|
|
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=)
|
|
|
|
NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg)
|
rs2132655977
|
|
|
NM_000093.5(COL5A1):c.1464C>T (p.Pro488=)
|
rs1835195730
|
|
|
NM_000093.5(COL5A1):c.1470C>T (p.Gly490=)
|
rs2132655989
|
|
|
NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala)
|
|
|
|
NM_000093.5(COL5A1):c.1495-6C>T
|
|
|
|
NM_000093.5(COL5A1):c.1495-7T>A
|
rs1835738568
|
|
|
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr)
|
|
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
|
NM_000093.5(COL5A1):c.1502del (p.Pro501fs)
|
rs1085307855
|
|
|
NM_000093.5(COL5A1):c.1503del (p.Gly502fs)
|
rs1554792011
|
|
|
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
|
|
|
|
NM_000093.5(COL5A1):c.1521T>G (p.Pro507=)
|
rs1835740030
|
|
|
NM_000093.5(COL5A1):c.1522G>A (p.Gly508Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1537C>T (p.Pro513Ser)
|
|
|
|
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
|
rs878853652
|
|
|
NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu)
|
rs1449896543
|
|
|
NM_000093.5(COL5A1):c.1548A>G (p.Pro516=)
|
|
|
|
NM_000093.5(COL5A1):c.1553C>T (p.Thr518Ile)
|
|
|
|
NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr)
|
rs202069285
|
|
|
NM_000093.5(COL5A1):c.1569+10dup
|
rs1394440955
|
|
|
NM_000093.5(COL5A1):c.1569+15C>G
|
|
|
|
NM_000093.5(COL5A1):c.1569+15_1569+16inv
|
|
|
|
NM_000093.5(COL5A1):c.1569+1G>A
|
rs2132682690
|
|
|
NM_000093.5(COL5A1):c.1569+6T>C
|
rs1588502477
|
|
|
NM_000093.5(COL5A1):c.1570-10dup
|
|
|
|
NM_000093.5(COL5A1):c.1570-9C>T
|
rs548393414
|
|
|
NM_000093.5(COL5A1):c.1573C>T (p.Arg525Trp)
|
|
|
|
NM_000093.5(COL5A1):c.1578T>C (p.Phe526=)
|
rs1835749798
|
|
|
NM_000093.5(COL5A1):c.1581A>G (p.Gly527=)
|
rs547134376
|
|
|
NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val)
|
|
|
|
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)
|
rs769010469
|
|
|
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=)
|
|
|
|
NM_000093.5(COL5A1):c.1596G>T (p.Ala532=)
|
|
|
|
NM_000093.5(COL5A1):c.15C>A (p.Thr5=)
|
|
|
|
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=)
|
|
|
|
NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
|
|
|
|
NM_000093.5(COL5A1):c.1617C>T (p.Val539=)
|
|
|
|
NM_000093.5(COL5A1):c.1620A>C (p.Ser540=)
|
rs1033262221
|
|
|
NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter)
|
rs2132683271
|
|
|
NM_000093.5(COL5A1):c.162A>G (p.Gly54=)
|
|
|
|
NM_000093.5(COL5A1):c.162A>T (p.Gly54=)
|
rs764431997
|
|
|
NM_000093.5(COL5A1):c.1630del (p.Ser544fs)
|
rs2132683277
|
|
|
NM_000093.5(COL5A1):c.1631C>T (p.Ser544Phe)
|
|
|
|
NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter)
|
rs895691193
|
|
|
NM_000093.5(COL5A1):c.1638G>T (p.Ala546=)
|
rs775508023
|
|
|
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
|
rs201625736
|
|
|
NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe)
|
|
|
|
NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys)
|
|
|
|
NM_000093.5(COL5A1):c.1650C>T (p.Leu550=)
|
|
|
|
NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
|
|
|
|
NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val)
|
rs767143136
|
|
|
NM_000093.5(COL5A1):c.1662+11C>T
|
rs2132683374
|
|
|
NM_000093.5(COL5A1):c.1662+15_1662+22dup
|
|
|
|
NM_000093.5(COL5A1):c.1662+1G>A
|
rs1835753446
|
|
|
NM_000093.5(COL5A1):c.1662+6T>C
|
|
|
|
NM_000093.5(COL5A1):c.1668A>C (p.Ala556=)
|
|
|
|
NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser)
|
|
|
|
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu)
|
rs753260027
|
|
|
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys)
|
rs1258095362
|
|
|
NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)
|
|
|
|
NM_000093.5(COL5A1):c.1703G>T (p.Gly568Val)
|
|
|
|
NM_000093.5(COL5A1):c.1716T>G (p.Pro572=)
|
rs2132687220
|
|
|
NM_000093.5(COL5A1):c.1719+13C>A
|
|
|
|
NM_000093.5(COL5A1):c.1719+13C>G
|
rs938125770
|
|
|
NM_000093.5(COL5A1):c.1719+19T>G
|
rs1048557481
|
|
|
NM_000093.5(COL5A1):c.1719+7C>A
|
rs1384002863
|
|
|
NM_000093.5(COL5A1):c.1719+8A>T
|
rs747192480
|
|
|
NM_000093.5(COL5A1):c.1720-136_1929del
|
|
|
|
NM_000093.5(COL5A1):c.1720-14C>T
|
|
|
|
NM_000093.5(COL5A1):c.1720-16C>T
|
|
|
|
NM_000093.5(COL5A1):c.1720-1G>A
|
rs1835880166
|
|
|
NM_000093.5(COL5A1):c.1720-3T>C
|
rs960627780
|
|
|
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
|
|
|
|
NM_000093.5(COL5A1):c.1724C>T (p.Pro575Leu)
|
rs1192447986
|
|
|
NM_000093.5(COL5A1):c.1725C>T (p.Pro575=)
|
|
|
|
NM_000093.5(COL5A1):c.1727del (p.Pro576fs)
|
rs1488498065
|
|
|
NM_000093.5(COL5A1):c.1728del (p.Ser578fs)
|
rs2132689832
|
|
|
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn)
|
|
|
|
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1749C>T (p.Gly583=)
|
|
|
|
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala)
|
rs751649145
|
|
|
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met)
|
|
|
|
NM_000093.5(COL5A1):c.1773+15T>G
|
|
|
|
NM_000093.5(COL5A1):c.1773+17C>A
|
|
|
|
NM_000093.5(COL5A1):c.1773+9G>A
|
|
|
|
NM_000093.5(COL5A1):c.1774-16C>A
|
rs755041858
|
|
|
NM_000093.5(COL5A1):c.1774-16C>T
|
rs755041858
|
|
|
NM_000093.5(COL5A1):c.1774-1G>A
|
rs2132690733
|
|
|
NM_000093.5(COL5A1):c.1774-7del
|
|
|
|
NM_000093.5(COL5A1):c.1774-8C>T
|
rs1411915444
|
|
|
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly)
|
rs1554792869
|
|
|
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
|
rs1554792869
|
|
|
NM_000093.5(COL5A1):c.1781G>A (p.Arg594Gln)
|
|
|
|
NM_000093.5(COL5A1):c.1782A>T (p.Arg594=)
|
|
|
|
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala)
|
rs754773665
|
|
|
NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter)
|
rs2132690786
|
|
|
NM_000093.5(COL5A1):c.1794C>G (p.Gly598=)
|
rs370565229
|
|
|
NM_000093.5(COL5A1):c.1796C>T (p.Pro599Leu)
|
|
|
|
NM_000093.5(COL5A1):c.1806G>A (p.Pro602=)
|
|
|
|
NM_000093.5(COL5A1):c.180C>A (p.Gly60=)
|
|
|
|
NM_000093.5(COL5A1):c.1810G>A (p.Gly604Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1816C>T (p.Pro606Ser)
|
rs1588506358
|
|
|
NM_000093.5(COL5A1):c.1819G>A (p.Gly607Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln)
|
|
|
|
NM_000093.5(COL5A1):c.1827+8G>T
|
|
|
|
NM_000093.5(COL5A1):c.1828-11C>T
|
|
|
|
NM_000093.5(COL5A1):c.1828-12C>G
|
|
|
|
NM_000093.5(COL5A1):c.1830T>C (p.Gly610=)
|
rs886063675
|
|
|
NM_000093.5(COL5A1):c.1836T>C (p.Ala612=)
|
|
|
|
NM_000093.5(COL5A1):c.1842T>G (p.Ser614Arg)
|
|
|
|
NM_000093.5(COL5A1):c.1850C>T (p.Ala617Val)
|
rs1588508705
|
|
|
NM_000093.5(COL5A1):c.1863T>G (p.Pro621=)
|
|
|
|
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His)
|
|
|
|
NM_000093.5(COL5A1):c.1881+14C>T
|
|
|
|
NM_000093.5(COL5A1):c.1881+3A>G
|
|
|
|
NM_000093.5(COL5A1):c.1881+4G>A
|
|
|
|
NM_000093.5(COL5A1):c.1881+9C>T
|
rs1030738880
|
|
|
NM_000093.5(COL5A1):c.1882-5del
|
rs1554793544
|
|
|
NM_000093.5(COL5A1):c.1882-9T>C
|
rs1836058051
|
|
|
NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly)
|
rs2132698898
|
|
|
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val)
|
|
|
|
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val)
|
rs777506210
|
|
|
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=)
|
rs781663334
|
|
|
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)
|
rs781663334
|
|
|
NM_000093.5(COL5A1):c.1921G>A (p.Glu641Lys)
|
|
|
|
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp)
|
rs780322561
|
|
|
NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn)
|
rs918992441
|
|
|
NM_000093.5(COL5A1):c.1929C>T (p.Gly643=)
|
|
|
|
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr)
|
rs1836060732
|
|
|
NM_000093.5(COL5A1):c.1935+14C>G
|
rs2132699069
|
|
|
NM_000093.5(COL5A1):c.1935+18G>A
|
|
|
|
NM_000093.5(COL5A1):c.1936-16C>G
|
rs199694949
|
|
|
NM_000093.5(COL5A1):c.1936-21G>A
|
rs77716946
|
|
|
NM_000093.5(COL5A1):c.1937_1946del
|
rs2132717812
|
|
|
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu)
|
rs150890005
|
|
|
NM_000093.5(COL5A1):c.1953C>A (p.Ser651=)
|
|
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
|
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
|
|
|
|
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu)
|
rs370766020
|
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
|
NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro)
|
rs146074704
|
|
|
NM_000093.5(COL5A1):c.1989+14C>T
|
|
|
|
NM_000093.5(COL5A1):c.1989+17C>T
|
rs981100115
|
|
|
NM_000093.5(COL5A1):c.1989+1G>C
|
rs1836462685
|
|
|
NM_000093.5(COL5A1):c.1989+5G>C
|
|
|
|
NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser)
|
rs774093862
|
|
|
NM_000093.5(COL5A1):c.198A>G (p.Arg66=)
|
rs1463204835
|
|
|
NM_000093.5(COL5A1):c.1990-12del
|
|
|
|
NM_000093.5(COL5A1):c.1990-12dup
|
rs1445580029
|
|
|
NM_000093.5(COL5A1):c.1990-5T>C
|
|
|
|
NM_000093.5(COL5A1):c.1990-6C>G
|
|
|
|
NM_000093.5(COL5A1):c.1990-7T>C
|
|
|
|
NM_000093.5(COL5A1):c.1990-9C>T
|
|
|
|
NM_000093.5(COL5A1):c.1A>G (p.Met1Val)
|
rs2132454722
|
|
|
NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln)
|
rs764603796
|
|
|
NM_000093.5(COL5A1):c.2016G>A (p.Arg672=)
|
|
|
|
NM_000093.5(COL5A1):c.2019G>A (p.Gly673=)
|
rs139822656
|
|
|
NM_000093.5(COL5A1):c.2019G>C (p.Gly673=)
|
rs139822656
|
|
|
NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val)
|
rs1564443811
|
|
|
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp)
|
|
|
|
NM_000093.5(COL5A1):c.2034+16G>C
|
|
|
|
NM_000093.5(COL5A1):c.2034+1G>A
|
rs886042173
|
|
|
NM_000093.5(COL5A1):c.2034+2T>A
|
|
|
|
NM_000093.5(COL5A1):c.2035-13T>C
|
|
|
|
NM_000093.5(COL5A1):c.2035-14C>A
|
|
|
|
NM_000093.5(COL5A1):c.2041C>G (p.Arg681Gly)
|
|
|
|
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys)
|
rs1564445192
|
|
|
NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu)
|
|
|
|
NM_000093.5(COL5A1):c.2047C>T (p.Leu683=)
|
|
|
|
NM_000093.5(COL5A1):c.2049G>C (p.Leu683=)
|
rs1060504529
|
|
|
NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala)
|
|
|
|
NM_000093.5(COL5A1):c.2070A>G (p.Pro690=)
|
rs1060504527
|
|
|
NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys)
|
|
|
|
NM_000093.5(COL5A1):c.2082A>G (p.Gly694=)
|
|
|
|
NM_000093.5(COL5A1):c.2088+16G>A
|
|
|
|
NM_000093.5(COL5A1):c.2088+18C>T
|
|
|
|
NM_000093.5(COL5A1):c.2088+4dup
|
rs1836638328
|
|
|
NM_000093.5(COL5A1):c.2088+5G>T
|
|
|
|
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His)
|
rs1554796087
|
|
|
NM_000093.5(COL5A1):c.2106C>T (p.Asp702=)
|
|
|
|
NM_000093.5(COL5A1):c.2109C>T (p.Gly703=)
|
|
|
|
NM_000093.5(COL5A1):c.2115G>A (p.Pro705=)
|
|
|
|
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
|
|
|
|
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr)
|
|
|
|
NM_000093.5(COL5A1):c.2133+13G>A
|
|
|
|
NM_000093.5(COL5A1):c.2133+14del
|
|
|
|
NM_000093.5(COL5A1):c.2133+19G>A
|
rs757103259
|
|
|
NM_000093.5(COL5A1):c.2134-14C>G
|
|
|
|
NM_000093.5(COL5A1):c.2134-2_2150dup
|
|
|
|
NM_000093.5(COL5A1):c.2134-4G>T
|
|
|
|
NM_000093.5(COL5A1):c.2138C>T (p.Pro713Leu)
|
|
|
|
NM_000093.5(COL5A1):c.213G>C (p.Pro71=)
|
|
|
|
NM_000093.5(COL5A1):c.213G>T (p.Pro71=)
|
rs775666676
|
|
|
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)
|
rs1554796176
|
|
|
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter)
|
rs1060502258
|
|
|
NM_000093.5(COL5A1):c.2148G>A (p.Glu716=)
|
rs368917234
|
|
|
NM_000093.5(COL5A1):c.2151T>C (p.Pro717=)
|
|
|
|
NM_000093.5(COL5A1):c.2153del (p.Gly718fs)
|
rs2132728639
|
|
|
NM_000093.5(COL5A1):c.2154C>T (p.Gly718=)
|
rs201785573
|
|
|
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser)
|
rs1564446104
|
|
|
NM_000093.5(COL5A1):c.2159C>T (p.Pro720Leu)
|
|
|
|
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
|
rs863223469
|
|
|
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)
|
rs863223469
|
|
|
NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu)
|
|
|
|
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter)
|
rs1564446117
|
|
|
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
|
|
|
|
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
|
|
|
|
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=)
|
rs150993138
|
|
|
NM_000093.5(COL5A1):c.2184C>T (p.Ala728=)
|
rs150993138
|
|
|
NM_000093.5(COL5A1):c.2187+20G>A
|
|
|
|
NM_000093.5(COL5A1):c.2187+4A>G
|
rs919497204
|
|
|
NM_000093.5(COL5A1):c.2187+6T>C
|
rs1836698236
|
|
|
NM_000093.5(COL5A1):c.2188-11C>A
|
|
|
|
NM_000093.5(COL5A1):c.2188-15C>G
|
rs1308708773
|
|
|
NM_000093.5(COL5A1):c.2188-15_2188-14del
|
rs2132729217
|
|
|
NM_000093.5(COL5A1):c.2188-6T>G
|
|
|
|
NM_000093.5(COL5A1):c.2188-9C>T
|
|
|
|
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=)
|
|
|
|
NM_000093.5(COL5A1):c.2203dup (p.Gln735fs)
|
rs1057519596
|
|
|
NM_000093.5(COL5A1):c.2208T>A (p.Gly736=)
|
rs2132729303
|
|
|
NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr)
|
rs2132729311
|
|
|
NM_000093.5(COL5A1):c.220G>A (p.Ala74Thr)
|
|
|
|
NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)
|
|
|
|
NM_000093.5(COL5A1):c.2232+17T>G
|
|
|
|
NM_000093.5(COL5A1):c.2232+20G>A
|
rs2132729412
|
|
|
NM_000093.5(COL5A1):c.2232+4G>C
|
rs1060502257
|
|
|
NM_000093.5(COL5A1):c.2232+7G>A
|
rs2132729384
|
|
|
NM_000093.5(COL5A1):c.2232+8G>A
|
|
|
|
NM_000093.5(COL5A1):c.2233-11G>A
|
|
|
|
NM_000093.5(COL5A1):c.2233-13T>G
|
|
|
|
NM_000093.5(COL5A1):c.2233-15T>C
|
|
|
|
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
|
|
|
|
NM_000093.5(COL5A1):c.2262A>T (p.Gly754=)
|
rs1836755970
|
|
|
NM_000093.5(COL5A1):c.2266C>T (p.Pro756Ser)
|
|
|
|
NM_000093.5(COL5A1):c.2275G>C (p.Asp759His)
|
|
|
|
NM_000093.5(COL5A1):c.2277C>T (p.Asp759=)
|
|
|
|
NM_000093.5(COL5A1):c.2284C>A (p.Pro762Thr)
|
|
|
|
NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln)
|
|
|
|
NM_000093.5(COL5A1):c.2286+8G>A
|
|
|
|
NM_000093.5(COL5A1):c.2287-11T>C
|
|
|
|
NM_000093.5(COL5A1):c.2287-12C>T
|
|
|
|
NM_000093.5(COL5A1):c.2287-7G>C
|
|
|
|
NM_000093.5(COL5A1):c.228_229del (p.Arg76fs)
|
rs1060502242
|
|
|
NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg)
|
|
|
|
NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg)
|
rs1554797269
|
|
|
NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
|
|
|
|
NM_000093.5(COL5A1):c.2316A>G (p.Gly772=)
|
|
|
|
NM_000093.5(COL5A1):c.2318A>T (p.Glu773Val)
|
rs759963647
|
|
|
NM_000093.5(COL5A1):c.2321A>C (p.Lys774Thr)
|
rs1564449370
|
|
|
NM_000093.5(COL5A1):c.2331+12C>T
|
|
|
|
NM_000093.5(COL5A1):c.2331+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.2331+3G>C
|
|
|
|
NM_000093.5(COL5A1):c.2331+4G>C
|
rs1588532335
|
|
|
NM_000093.5(COL5A1):c.2331+4_2331+5dup
|
|
|
|
NM_000093.5(COL5A1):c.2331+7G>C
|
rs2132742244
|
|
|
NM_000093.5(COL5A1):c.2331G>A (p.Gln777=)
|
rs1588532322
|
|
|
NM_000093.5(COL5A1):c.2332-14C>G
|
|
|
|
NM_000093.5(COL5A1):c.2332-20C>T
|
rs1588534559
|
|
|
NM_000093.5(COL5A1):c.2332-3del
|
rs2132747868
|
|
|
NM_000093.5(COL5A1):c.2332-5T>G
|
rs2132747878
|
|
|
NM_000093.5(COL5A1):c.2332-9T>A
|
|
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
|
NM_000093.5(COL5A1):c.2334T>C (p.Gly778=)
|
|
|
|
NM_000093.5(COL5A1):c.2346C>T (p.Pro782=)
|
|
|
|
NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala)
|
|
|
|
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)
|
rs121912933
|
|
|
NM_000093.5(COL5A1):c.2375G>A (p.Arg792Gln)
|
|
|
|
NM_000093.5(COL5A1):c.2383A>G (p.Lys795Glu)
|
rs2132748056
|
|
|
NM_000093.5(COL5A1):c.2385+13C>A
|
|
|
|
NM_000093.5(COL5A1):c.2385+19A>G
|
|
|
|
NM_000093.5(COL5A1):c.2385+3G>A
|
|
|
|
NM_000093.5(COL5A1):c.2386-10A>C
|
rs2132759970
|
|
|
NM_000093.5(COL5A1):c.2386-3C>G
|
rs1564453831
|
|
|
NM_000093.5(COL5A1):c.2386-6G>T
|
|
|
|
NM_000093.5(COL5A1):c.2386-8C>A
|
rs1588539610
|
|
|
NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp)
|
|
|
|
NM_000093.5(COL5A1):c.2394T>C (p.Asp798=)
|
rs2132760049
|
|
|
NM_000093.5(COL5A1):c.2406T>G (p.Gly802=)
|
|
|
|
NM_000093.5(COL5A1):c.2409G>A (p.Leu803=)
|
rs2132760095
|
|
|
NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)
|
|
|
|
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter)
|
rs1032017865
|
|
|
NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly)
|
|
|
|
NM_000093.5(COL5A1):c.2429_2430+26del
|
|
|
|
NM_000093.5(COL5A1):c.2430+11C>T
|
|
|
|
NM_000093.5(COL5A1):c.2430+16C>T
|
rs530385215
|
|
|
NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT
|
|
|
|
NM_000093.5(COL5A1):c.2430+1G>A
|
rs1060502248
|
|
|
NM_000093.5(COL5A1):c.2430+1G>C
|
|
|
|
NM_000093.5(COL5A1):c.2430+20_2430+21inv
|
|
|
|
NM_000093.5(COL5A1):c.2430+5G>T
|
|
|
|
NM_000093.5(COL5A1):c.2431-13G>A
|
|
|
|
NM_000093.5(COL5A1):c.2431-13G>T
|
|
|
|
NM_000093.5(COL5A1):c.2431-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.2431-20C>T
|
|
|
|
NM_000093.5(COL5A1):c.2431-7T>C
|
rs1060504531
|
|
|
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)
|
rs1554798918
|
|
|
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys)
|
rs1554798924
|
|
|
NM_000093.5(COL5A1):c.2437G>T (p.Asp813Tyr)
|
rs1837306111
|
|
|
NM_000093.5(COL5A1):c.2448T>G (p.Pro816=)
|
|
|
|
NM_000093.5(COL5A1):c.2451G>T (p.Gly817=)
|
rs1554798928
|
|
|
NM_000093.5(COL5A1):c.246G>T (p.Gln82His)
|
rs777607116
|
|
|
NM_000093.5(COL5A1):c.2478T>C (p.Gly826=)
|
|
|
|
NM_000093.5(COL5A1):c.2484+14G>A
|
rs371753763
|
|
|
NM_000093.5(COL5A1):c.2484+1G>T
|
rs1564455577
|
|
|
NM_000093.5(COL5A1):c.2485-14T>C
|
|
|
|
NM_000093.5(COL5A1):c.2485-18_2485-16del
|
|
|
|
NM_000093.5(COL5A1):c.2487G>A (p.Gly829=)
|
|
|
|
NM_000093.5(COL5A1):c.2488G>T (p.Glu830Ter)
|
rs1837403402
|
|
|
NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly)
|
|
|
|
NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser)
|
|
|
|
NM_000093.5(COL5A1):c.2496C>G (p.Gly832=)
|
|
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
|
NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg)
|
|
|
|
NM_000093.5(COL5A1):c.2518G>C (p.Asp840His)
|
rs1564457054
|
|
|
NM_000093.5(COL5A1):c.2535A>G (p.Pro845=)
|
|
|
|
NM_000093.5(COL5A1):c.2544C>A (p.Arg848=)
|
rs201556585
|
|
|
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=)
|
rs201556585
|
|
|
NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg)
|
|
|
|
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
|
rs1837406273
|
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
|
NM_000093.5(COL5A1):c.2558G>A (p.Gly853Asp)
|
|
|
|
NM_000093.5(COL5A1):c.2559T>C (p.Gly853=)
|
rs1588545978
|
|
|
NM_000093.5(COL5A1):c.2563C>T (p.Pro855Ser)
|
|
|
|
NM_000093.5(COL5A1):c.2564C>A (p.Pro855His)
|
|
|
|
NM_000093.5(COL5A1):c.2565C>T (p.Pro855=)
|
|
|
|
NM_000093.5(COL5A1):c.2565del (p.Gly856fs)
|
rs1564457102
|
|
|
NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser)
|
rs1254955559
|
|
|
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg)
|
|
|
|
NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del)
|
rs2132551178
|
|
|
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=)
|
|
|
|
NM_000093.5(COL5A1):c.2592+16C>G
|
rs145429817
|
|
|
NM_000093.5(COL5A1):c.2592+16C>T
|
rs145429817
|
|
|
NM_000093.5(COL5A1):c.2592+20C>A
|
|
|
|
NM_000093.5(COL5A1):c.2593-10C>G
|
|
|
|
NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg)
|
|
|
|
NM_000093.5(COL5A1):c.2603del (p.Gly868fs)
|
|
|
|
NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr)
|
|
|
|
NM_000093.5(COL5A1):c.2646+13C>T
|
|
|
|
NM_000093.5(COL5A1):c.2646+16del
|
rs1837447151
|
|
|
NM_000093.5(COL5A1):c.2646+30_2646+93del
|
|
|
|
NM_000093.5(COL5A1):c.2647-12A>T
|
|
|
|
NM_000093.5(COL5A1):c.2647-16T>G
|
|
|
|
NM_000093.5(COL5A1):c.2647-3C>G
|
rs746511717
|
|
|
NM_000093.5(COL5A1):c.2647-3C>T
|
|
|
|
NM_000093.5(COL5A1):c.2647-9C>G
|
rs757930358
|
|
|
NM_000093.5(COL5A1):c.2647-9C>T
|
|
|
|
NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)
|
|
|
|
NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu)
|
|
|
|
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
|
rs1833261804
|
|
|
NM_000093.5(COL5A1):c.2660del (p.Phe887fs)
|
rs1588551159
|
|
|
NM_000093.5(COL5A1):c.266A>G (p.Gln89Arg)
|
rs1554780187
|
|
|
NM_000093.5(COL5A1):c.2670T>G (p.Phe890Leu)
|
|
|
|
NM_000093.5(COL5A1):c.2674_2675delinsCT (p.Gly892Leu)
|
rs2132784450
|
|
|
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=)
|
rs143161140
|
|
|
NM_000093.5(COL5A1):c.2676C>T (p.Gly892=)
|
rs143161140
|
|
|
NM_000093.5(COL5A1):c.2688G>A (p.Glu896=)
|
|
|
|
NM_000093.5(COL5A1):c.268C>T (p.Leu90=)
|
|
|
|
NM_000093.5(COL5A1):c.2693G>T (p.Gly898Val)
|
rs910417046
|
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
|
NM_000093.5(COL5A1):c.2700+12C>T
|
rs752367004
|
|
|
NM_000093.5(COL5A1):c.2700+16C>A
|
|
|
|
NM_000093.5(COL5A1):c.2700+18C>T
|
|
|
|
NM_000093.5(COL5A1):c.2700+19C>G
|
|
|
|
NM_000093.5(COL5A1):c.2700+19dup
|
|
|
|
NM_000093.5(COL5A1):c.2700+20T>G
|
|
|
|
NM_000093.5(COL5A1):c.2700+2T>C
|
rs1588551226
|
|
|
NM_000093.5(COL5A1):c.2701-10C>T
|
|
|
|
NM_000093.5(COL5A1):c.2701-11T>C
|
|
|
|
NM_000093.5(COL5A1):c.2701-15dup
|
|
|
|
NM_000093.5(COL5A1):c.2701-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
|
NM_000093.5(COL5A1):c.2703G>C (p.Gly901=)
|
|
|
|
NM_000093.5(COL5A1):c.2705C>T (p.Thr902Ile)
|
rs1239938844
|
|
|
NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn)
|
rs533217850
|
|
|
NM_000093.5(COL5A1):c.2724G>C (p.Pro908=)
|
rs41310207
|
|
|
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs)
|
rs2132802457
|
|
|
NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)
|
rs1837850102
|
|
|
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter)
|
rs863223478
|
|
|
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln)
|
rs1437668038
|
|
|
NM_000093.5(COL5A1):c.273C>T (p.Tyr91=)
|
rs1341789008
|
|
|
NM_000093.5(COL5A1):c.2745+7A>G
|
rs1588558338
|
|
|
NM_000093.5(COL5A1):c.2745+9C>T
|
rs1837850960
|
|
|
NM_000093.5(COL5A1):c.2746-11C>G
|
|
|
|
NM_000093.5(COL5A1):c.2746-11C>T
|
|
|
|
NM_000093.5(COL5A1):c.2746-12C>A
|
|
|
|
NM_000093.5(COL5A1):c.2746-12C>T
|
|
|
|
NM_000093.5(COL5A1):c.2746-15C>T
|
rs2132802979
|
|
|
NM_000093.5(COL5A1):c.2746-19T>G
|
|
|
|
NM_000093.5(COL5A1):c.2746-6G>T
|
|
|
|
NM_000093.5(COL5A1):c.2746-8C>T
|
|
|
|
NM_000093.5(COL5A1):c.2754G>A (p.Arg918=)
|
rs776715400
|
|
|
NM_000093.5(COL5A1):c.277+10G>A
|
|
|
|
NM_000093.5(COL5A1):c.277+6T>C
|
|
|
|
NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr)
|
|
|
|
NM_000093.5(COL5A1):c.278-13_278-12del
|
|
|
|
NM_000093.5(COL5A1):c.278-1G>T
|
|
|
|
NM_000093.5(COL5A1):c.278-4C>T
|
|
|
|
NM_000093.5(COL5A1):c.278-9C>G
|
|
|
|
NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg)
|
|
|
|
NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly)
|
rs41306397
|
|
|
NM_000093.5(COL5A1):c.2793C>A (p.Gly931=)
|
|
|
|
NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg)
|
|
|
|
NM_000093.5(COL5A1):c.2799+10T>C
|
rs941515036
|
|
|
NM_000093.5(COL5A1):c.2799+10_2799+19del
|
|
|
|
NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT
|
|
|
|
NM_000093.5(COL5A1):c.2799+13C>T
|
rs75668257
|
|
|
NM_000093.5(COL5A1):c.2799+14C>T
|
rs1837863011
|
|
|
NM_000093.5(COL5A1):c.2800-13_2800-4del
|
|
|
|
NM_000093.5(COL5A1):c.2800-15_2800-14del
|
|
|
|
NM_000093.5(COL5A1):c.2800-18C>A
|
rs73664144
|
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
|
NM_000093.5(COL5A1):c.2800-19C>A
|
|
|
|
NM_000093.5(COL5A1):c.2800-19C>G
|
|
|
|
NM_000093.5(COL5A1):c.2800-19C>T
|
|
|
|
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg)
|
rs1330022009
|
|
|
NM_000093.5(COL5A1):c.2811A>G (p.Gly937=)
|
|
|
|
NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser)
|
|
|
|
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu)
|
rs756440511
|
|
|
NM_000093.5(COL5A1):c.2841A>G (p.Glu947=)
|
|
|
|
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp)
|
rs1030105888
|
|
|
NM_000093.5(COL5A1):c.2844+20G>C
|
|
|
|
NM_000093.5(COL5A1):c.2844+20G>T
|
|
|
|
NM_000093.5(COL5A1):c.2844+3A>G
|
rs2132806641
|
|
|
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=)
|
rs1421835224
|
|
|
NM_000093.5(COL5A1):c.2845-13T>C
|
|
|
|
NM_000093.5(COL5A1):c.2845-17C>T
|
|
|
|
NM_000093.5(COL5A1):c.2845-18G>A
|
|
|
|
NM_000093.5(COL5A1):c.2845-19G>A
|
|
|
|
NM_000093.5(COL5A1):c.2851A>C (p.Asn951His)
|
rs1588560410
|
|
|
NM_000093.5(COL5A1):c.2853T>C (p.Asn951=)
|
|
|
|
NM_000093.5(COL5A1):c.2857C>T (p.Pro953Ser)
|
rs773946732
|
|
|
NM_000093.5(COL5A1):c.2870C>T (p.Thr957Ile)
|
|
|
|
NM_000093.5(COL5A1):c.2891G>T (p.Gly964Val)
|
|
|
|
NM_000093.5(COL5A1):c.2893C>T (p.Pro965Ser)
|
rs755051823
|
|
|
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu)
|
rs376435205
|
|
|
NM_000093.5(COL5A1):c.2895C>T (p.Pro965=)
|
|
|
|
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)
|
rs1179967153
|
|
|
NM_000093.5(COL5A1):c.2898+10G>T
|
|
|
|
NM_000093.5(COL5A1):c.2898+16C>G
|
|
|
|
NM_000093.5(COL5A1):c.2898+18T>C
|
|
|
|
NM_000093.5(COL5A1):c.2898+19G>C
|
|
|
|
NM_000093.5(COL5A1):c.2898+19G>T
|
|
|
|
NM_000093.5(COL5A1):c.2899-12T>C
|
|
|
|
NM_000093.5(COL5A1):c.2899-19C>T
|
|
|
|
NM_000093.5(COL5A1):c.2899-20T>C
|
|
|
|
NM_000093.5(COL5A1):c.2899-6C>A
|
|
|
|
NM_000093.5(COL5A1):c.2899-7T>C
|
|
|
|
NM_000093.5(COL5A1):c.2899-7dup
|
|
|
|
NM_000093.5(COL5A1):c.2902C>G (p.Pro968Ala)
|
rs1564466152
|
|
|
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)
|
rs759627305
|
|
|
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
|
|
|
|
NM_000093.5(COL5A1):c.291C>T (p.Pro97=)
|
|
|
|
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
|
|
|
|
NM_000093.5(COL5A1):c.2929C>G (p.His977Asp)
|
|
|
|
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.2931C>A (p.His977Gln)
|
rs1564466171
|
|
|
NM_000093.5(COL5A1):c.2950A>T (p.Thr984Ser)
|
rs1837995693
|
|
|
NM_000093.5(COL5A1):c.2952+10_2952+11delinsAT
|
|
|
|
NM_000093.5(COL5A1):c.2952+16del
|
|
|
|
NM_000093.5(COL5A1):c.2952+1G>C
|
|
|
|
NM_000093.5(COL5A1):c.2952+20G>A
|
|
|
|
NM_000093.5(COL5A1):c.2952+2_2952+3del
|
rs1588562135
|
|
|
NM_000093.5(COL5A1):c.2952T>C (p.Thr984=)
|
|
|
|
NM_000093.5(COL5A1):c.2953-10C>T
|
|
|
|
NM_000093.5(COL5A1):c.2953-14CT[3]
|
|
|
|
NM_000093.5(COL5A1):c.2953-1G>A
|
rs866122374
|
|
|
NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly)
|
rs2132569560
|
|
|
NM_000093.5(COL5A1):c.2970C>G (p.Thr990=)
|
rs548678914
|
|
|
NM_000093.5(COL5A1):c.2970C>T (p.Thr990=)
|
|
|
|
NM_000093.5(COL5A1):c.2975C>T (p.Pro992Leu)
|
|
|
|
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs)
|
rs1588448655
|
|
|
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
|
|
|
|
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala)
|
rs187022757
|
|
|
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser)
|
rs187022757
|
|
|
NM_000093.5(COL5A1):c.2984C>T (p.Pro995Leu)
|
|
|
|
NM_000093.5(COL5A1):c.2986C>A (p.Pro996Thr)
|
|
|
|
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala)
|
rs774351619
|
|
|
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser)
|
rs774351619
|
|
|
NM_000093.5(COL5A1):c.2988C>A (p.Pro996=)
|
rs374409202
|
|
|
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=)
|
rs374409202
|
|
|
NM_000093.5(COL5A1):c.2988del (p.Gly997fs)
|
rs764693725
|
|
|
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs)
|
rs764693725
|
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
|
|
NM_000093.5(COL5A1):c.2992G>C (p.Val998Leu)
|
rs776676564
|
|
|
NM_000093.5(COL5A1):c.2997C>G (p.Val999=)
|
|
|
|
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
|
rs765082093
|
|
|
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000093.5(COL5A1):c.3006+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.3006+5G>A
|
|
|
|
NM_000093.5(COL5A1):c.3006+8C>A
|
rs1386029156
|
|
|
NM_000093.5(COL5A1):c.3007-14G>A
|
rs1838163235
|
|
|
NM_000093.5(COL5A1):c.3007-15T>C
|
|
|
|
NM_000093.5(COL5A1):c.3007-17A>G
|
|
|
|
NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG
|
|
|
|
NM_000093.5(COL5A1):c.3007-7C>T
|
|
|
|
NM_000093.5(COL5A1):c.3015G>T (p.Thr1005=)
|
rs751265351
|
|
|
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro)
|
rs1554781476
|
|
|
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val)
|
|
|
|
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys)
|
rs1060502249
|
|
|
NM_000093.5(COL5A1):c.3045C>T (p.Gly1015=)
|
|
|
|
NM_000093.5(COL5A1):c.3054G>T (p.Gly1018=)
|
rs369163868
|
|
|
NM_000093.5(COL5A1):c.3054del (p.Pro1020fs)
|
rs2132822152
|
|
|
NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr)
|
|
|
|
NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr)
|
rs1838166559
|
|
|
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)
|
rs863223473
|
|
|
NM_000093.5(COL5A1):c.3084T>C (p.Leu1028=)
|
rs2132822335
|
|
|
NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3086C>A (p.Pro1029Gln)
|
rs768531108
|
|
|
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
|
|
|
|
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del)
|
rs863223476
|
|
|
NM_000093.5(COL5A1):c.3114+10T>C
|
rs1057523401
|
|
|
NM_000093.5(COL5A1):c.3114+1G>A
|
rs1838169083
|
|
|
NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=)
|
|
|
|
NM_000093.5(COL5A1):c.3115-10_3115-9del
|
|
|
|
NM_000093.5(COL5A1):c.3115-12C>T
|
|
|
|
NM_000093.5(COL5A1):c.3115-4T>G
|
|
|
|
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala)
|
rs751792216
|
|
|
NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val)
|
rs2132827065
|
|
|
NM_000093.5(COL5A1):c.3132A>G (p.Ala1044=)
|
rs2132827122
|
|
|
NM_000093.5(COL5A1):c.315T>C (p.Thr105=)
|
rs1232024630
|
|
|
NM_000093.5(COL5A1):c.3162A>T (p.Gly1054=)
|
rs2132827198
|
|
|
NM_000093.5(COL5A1):c.3163T>C (p.Leu1055=)
|
|
|
|
NM_000093.5(COL5A1):c.3165A>G (p.Leu1055=)
|
rs1588569724
|
|
|
NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp)
|
rs1554803568
|
|
|
NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=)
|
rs943030077
|
|
|
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter)
|
rs387906606
|
|
|
NM_000093.5(COL5A1):c.3185G>C (p.Arg1062Pro)
|
rs771807198
|
|
|
NM_000093.5(COL5A1):c.3185G>T (p.Arg1062Leu)
|
rs771807198
|
|
|
NM_000093.5(COL5A1):c.3189G>A (p.Gly1063=)
|
|
|
|
NM_000093.5(COL5A1):c.318G>A (p.Val106=)
|
rs372181142
|
|
|
NM_000093.5(COL5A1):c.3194C>T (p.Pro1065Leu)
|
rs2132827329
|
|
|
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser)
|
rs1838247641
|
|
|
NM_000093.5(COL5A1):c.3204+18C>T
|
|
|
|
NM_000093.5(COL5A1):c.3204+19G>A
|
|
|
|
NM_000093.5(COL5A1):c.3205-12A>T
|
|
|
|
NM_000093.5(COL5A1):c.3205-18C>A
|
rs199557977
|
|
|
NM_000093.5(COL5A1):c.3205-1G>C
|
|
|
|
NM_000093.5(COL5A1):c.3205-20A>G
|
rs1198283460
|
|
|
NM_000093.5(COL5A1):c.3205-5T>C
|
|
|
|
NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val)
|
rs2132827686
|
|
|
NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe)
|
|
|
|
NM_000093.5(COL5A1):c.321del (p.Ala108fs)
|
rs2132569651
|
|
|
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)
|
|
|
|
NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu)
|
rs1554803631
|
|
|
NM_000093.5(COL5A1):c.3234G>C (p.Gly1078=)
|
|
|
|
NM_000093.5(COL5A1):c.3236C>A (p.Pro1079His)
|
|
|
|
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu)
|
rs863223447
|
|
|
NM_000093.5(COL5A1):c.3255T>C (p.Pro1085=)
|
|
|
|
NM_000093.5(COL5A1):c.3258+13C>G
|
|
|
|
NM_000093.5(COL5A1):c.3258+20C>T
|
|
|
|
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
|
|
|
|
NM_000093.5(COL5A1):c.3259-11C>G
|
|
|
|
NM_000093.5(COL5A1):c.3259-11C>T
|
|
|
|
NM_000093.5(COL5A1):c.3259-12G>T
|
|
|
|
NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter)
|
rs2132830435
|
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
|
NM_000093.5(COL5A1):c.3260_3366+1del
|
rs2132830442
|
|
|
NM_000093.5(COL5A1):c.3261A>T (p.Gly1087=)
|
|
|
|
NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys)
|
rs1383949759
|
|
|
NM_000093.5(COL5A1):c.3270G>A (p.Gly1090=)
|
|
|
|
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
|
|
|
|
NM_000093.5(COL5A1):c.3287G>A (p.Gly1096Glu)
|
|
|
|
NM_000093.5(COL5A1):c.3290C>T (p.Ala1097Val)
|
|
|
|
NM_000093.5(COL5A1):c.3292G>T (p.Ala1098Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs)
|
rs1838291478
|
|
|
NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile)
|
|
|
|
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=)
|
rs760754491
|
|
|
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs)
|
rs1564471440
|
|
|
NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser)
|
rs1838292124
|
|
|
NM_000093.5(COL5A1):c.3312A>G (p.Pro1104=)
|
rs1554803839
|
|
|
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
|
|
|
|
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys)
|
rs1838292501
|
|
|
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
|
|
|
|
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=)
|
|
|
|
NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser)
|
rs1204892518
|
|
|
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu)
|
|
|
|
NM_000093.5(COL5A1):c.3337C>T (p.Pro1113Ser)
|
rs1342258419
|
|
|
NM_000093.5(COL5A1):c.3344C>A (p.Pro1115Gln)
|
rs139039658
|
|
|
NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val)
|
|
|
|
NM_000093.5(COL5A1):c.3354G>A (p.Glu1118=)
|
rs2132830826
|
|
|
NM_000093.5(COL5A1):c.3360G>T (p.Gly1120=)
|
|
|
|
NM_000093.5(COL5A1):c.3366+12C>A
|
|
|
|
NM_000093.5(COL5A1):c.3366+20G>T
|
|
|
|
NM_000093.5(COL5A1):c.3367-11G>C
|
|
|
|
NM_000093.5(COL5A1):c.3367-13C>G
|
|
|
|
NM_000093.5(COL5A1):c.3367-14_3367-12del
|
rs750002182
|
|
|
NM_000093.5(COL5A1):c.3367-15T>G
|
|
|
|
NM_000093.5(COL5A1):c.3367-16C>T
|
|
|
|
NM_000093.5(COL5A1):c.3367-4C>T
|
rs1411238332
|
|
|
NM_000093.5(COL5A1):c.3367-7T>A
|
|
|
|
NM_000093.5(COL5A1):c.3373A>G (p.Lys1125Glu)
|
|
|
|
NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs)
|
|
|
|
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter)
|
rs2132569692
|
|
|
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys)
|
rs1838417062
|
|
|
NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg)
|
|
|
|
NM_000093.5(COL5A1):c.3384A>G (p.Gln1128=)
|
|
|
|
NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val)
|
|
|
|
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)
|
|
|
|
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)
|
rs886042045
|
|
|
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser)
|
rs775559638
|
|
|
NM_000093.5(COL5A1):c.3412G>T (p.Gly1138Trp)
|
rs2132838695
|
|
|
NM_000093.5(COL5A1):c.3414G>A (p.Gly1138=)
|
|
|
|
NM_000093.5(COL5A1):c.3421G>C (p.Gly1141Arg)
|
rs1269224473
|
|
|
NM_000093.5(COL5A1):c.3426C>T (p.Leu1142=)
|
|
|
|
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
|
rs750169623
|
|
|
NM_000093.5(COL5A1):c.342C>G (p.Ala114=)
|
rs2132569714
|
|
|
NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile)
|
rs1564396163
|
|
|
NM_000093.5(COL5A1):c.3442C>T (p.Pro1148Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
|
|
|
|
NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu)
|
|
|
|
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser)
|
rs1424921275
|
|
|
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs)
|
rs2132838808
|
|
|
NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg)
|
|
|
|
NM_000093.5(COL5A1):c.3468A>C (p.Gly1156=)
|
rs1296980747
|
|
|
NM_000093.5(COL5A1):c.346C>T (p.Leu116=)
|
|
|
|
NM_000093.5(COL5A1):c.3474+20A>G
|
|
|
|
NM_000093.5(COL5A1):c.3474+5G>A
|
|
|
|
NM_000093.5(COL5A1):c.3474+6G>A
|
|
|
|
NM_000093.5(COL5A1):c.3475-4C>T
|
|
|
|
NM_000093.5(COL5A1):c.3475-7C>A
|
|
|
|
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu)
|
rs1838466921
|
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
|
NM_000093.5(COL5A1):c.3487G>A (p.Glu1163Lys)
|
|
|
|
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
|
|
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
|
NM_000093.5(COL5A1):c.3509A>G (p.Lys1170Arg)
|
rs2132841141
|
|
|
NM_000093.5(COL5A1):c.3511G>A (p.Gly1171Arg)
|
rs2132841157
|
|
|
NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs)
|
rs2132841152
|
|
|
NM_000093.5(COL5A1):c.3528+13A>G
|
|
|
|
NM_000093.5(COL5A1):c.3528+14C>G
|
|
|
|
NM_000093.5(COL5A1):c.3528+46G>C
|
rs3827850
|
|
|
NM_000093.5(COL5A1):c.3528+4_3528+7dup
|
|
|
|
NM_000093.5(COL5A1):c.3528+5G>A
|
|
|
|
NM_000093.5(COL5A1):c.3529-16G>C
|
|
|
|
NM_000093.5(COL5A1):c.3529-1G>T
|
rs1588577214
|
|
|
NM_000093.5(COL5A1):c.3529-8C>T
|
|
|
|
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser)
|
|
|
|
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys)
|
rs1554781494
|
|
|
NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=)
|
|
|
|
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
|
|
|
|
NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)
|
|
|
|
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val)
|
rs1588577285
|
|
|
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)
|
rs766961124
|
|
|
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
|
|
|
|
NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His)
|
|
|
|
NM_000093.5(COL5A1):c.3576C>T (p.Gly1192=)
|
|
|
|
NM_000093.5(COL5A1):c.3577C>A (p.Pro1193Thr)
|
rs531886361
|
|
|
NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu)
|
rs2132844501
|
|
|
NM_000093.5(COL5A1):c.3582+7A>G
|
|
|
|
NM_000093.5(COL5A1):c.3582+9C>T
|
rs1838518099
|
|
|
NM_000093.5(COL5A1):c.3583-17C>T
|
|
|
|
NM_000093.5(COL5A1):c.3583-33_3583-15del
|
|
|
|
NM_000093.5(COL5A1):c.3583-6dup
|
rs773032514
|
|
|
NM_000093.5(COL5A1):c.3583-7C>G
|
rs1330304599
|
|
|
NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp)
|
rs1060502247
|
|
|
NM_000093.5(COL5A1):c.3597G>A (p.Glu1199=)
|
rs2132844895
|
|
|
NM_000093.5(COL5A1):c.35C>A (p.Ala12Glu)
|
rs995895784
|
|
|
NM_000093.5(COL5A1):c.3607C>T (p.Arg1203Trp)
|
|
|
|
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln)
|
rs1838524385
|
|
|
NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=)
|
rs369518896
|
|
|
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter)
|
rs2132844990
|
|
|
NM_000093.5(COL5A1):c.3617A>G (p.Gln1206Arg)
|
rs1838524740
|
|
|
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu)
|
rs748000980
|
|
|
NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter)
|
rs1307084213
|
|
|
NM_000093.5(COL5A1):c.3637G>A (p.Gly1213Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3643G>A (p.Glu1215Lys)
|
rs2132845104
|
|
|
NM_000093.5(COL5A1):c.364G>C (p.Glu122Gln)
|
rs1588448757
|
|
|
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly)
|
rs886063673
|
|
|
NM_000093.5(COL5A1):c.3662C>T (p.Pro1221Leu)
|
|
|
|
NM_000093.5(COL5A1):c.3667C>T (p.Pro1223Ser)
|
rs1411675246
|
|
|
NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs)
|
rs2132845192
|
|
|
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs)
|
rs1564475090
|
|
|
NM_000093.5(COL5A1):c.3690+10G>A
|
|
|
|
NM_000093.5(COL5A1):c.3690+12G>A
|
rs2132845317
|
|
|
NM_000093.5(COL5A1):c.3690+2dup
|
rs2132845264
|
|
|
NM_000093.5(COL5A1):c.3690+8T>G
|
|
|
|
NM_000093.5(COL5A1):c.3690+8_3690+9del
|
|
|
|
NM_000093.5(COL5A1):c.3691-13T>G
|
|
|
|
NM_000093.5(COL5A1):c.3691-3C>A
|
|
|
|
NM_000093.5(COL5A1):c.3691-6T>C
|
rs1187330689
|
|
|
NM_000093.5(COL5A1):c.3691-8del
|
rs2132847274
|
|
|
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu)
|
rs886039091
|
|
|
NM_000093.5(COL5A1):c.36G>A (p.Ala12=)
|
rs1029930975
|
|
|
NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3711C>A (p.Gly1237=)
|
|
|
|
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=)
|
rs763583510
|
|
|
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=)
|
|
|
|
NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val)
|
rs767843442
|
|
|
NM_000093.5(COL5A1):c.3744+11C>T
|
|
|
|
NM_000093.5(COL5A1):c.3744+16A>G
|
|
|
|
NM_000093.5(COL5A1):c.3744+6T>A
|
|
|
|
NM_000093.5(COL5A1):c.3744+9G>T
|
|
|
|
NM_000093.5(COL5A1):c.3745-15T>A
|
|
|
|
NM_000093.5(COL5A1):c.3745-4C>G
|
|
|
|
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala)
|
rs533597740
|
|
|
NM_000093.5(COL5A1):c.3747C>G (p.Gly1249=)
|
|
|
|
NM_000093.5(COL5A1):c.3747C>T (p.Gly1249=)
|
|
|
|
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser)
|
rs1833612402
|
|
|
NM_000093.5(COL5A1):c.3752C>T (p.Pro1251Leu)
|
|
|
|
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs)
|
rs786205100
|
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
|
NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)
|
rs1554805125
|
|
|
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs)
|
rs1057518653
|
|
|
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter)
|
rs748870349
|
|
|
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
|
|
|
|
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg)
|
rs772445337
|
|
|
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr)
|
rs1211791316
|
|
|
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
|
|
|
|
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter)
|
rs1554805142
|
|
|
NM_000093.5(COL5A1):c.3807A>G (p.Gln1269=)
|
|
|
|
NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs)
|
rs2132848217
|
|
|
NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg)
|
rs771146636
|
|
|
NM_000093.5(COL5A1):c.3813C>T (p.Pro1271=)
|
|
|
|
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu)
|
rs369684394
|
|
|
NM_000093.5(COL5A1):c.3827G>T (p.Gly1276Val)
|
rs2132848301
|
|
|
NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs)
|
rs2132848313
|
|
|
NM_000093.5(COL5A1):c.3834T>C (p.Pro1278=)
|
|
|
|
NM_000093.5(COL5A1):c.3847G>A (p.Glu1283Lys)
|
|
|
|
NM_000093.5(COL5A1):c.384del (p.Ile128fs)
|
rs1833612720
|
|
|
NM_000093.5(COL5A1):c.3852+4A>T
|
|
|
|
NM_000093.5(COL5A1):c.3853-14C>A
|
|
|
|
NM_000093.5(COL5A1):c.3853-19A>G
|
|
|
|
NM_000093.5(COL5A1):c.3853-20C>T
|
|
|
|
NM_000093.5(COL5A1):c.3853-33_3853-17del
|
|
|
|
NM_000093.5(COL5A1):c.3853-8C>T
|
|
|
|
NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr)
|
|
|
|
NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg)
|
rs2132569874
|
|
|
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
|
|
|
|
NM_000093.5(COL5A1):c.3869C>G (p.Ala1290Gly)
|
|
|
|
NM_000093.5(COL5A1):c.386G>A (p.Gly129Glu)
|
rs1833612785
|
|
|
NM_000093.5(COL5A1):c.3873T>C (p.Gly1291=)
|
|
|
|
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)
|
rs1319735007
|
|
|
NM_000093.5(COL5A1):c.3878C>T (p.Pro1293Leu)
|
|
|
|
NM_000093.5(COL5A1):c.3888G>T (p.Pro1296=)
|
rs375631252
|
|
|
NM_000093.5(COL5A1):c.388C>G (p.Leu130Val)
|
|
|
|
NM_000093.5(COL5A1):c.3896G>A (p.Gly1299Asp)
|
|
|
|
NM_000093.5(COL5A1):c.3899G>C (p.Gly1300Ala)
|
|
|
|
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg)
|
rs201920777
|
|
|
NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu)
|
rs201920777
|
|
|
NM_000093.5(COL5A1):c.3906+15G>A
|
rs370937109
|
|
|
NM_000093.5(COL5A1):c.3906+15G>C
|
rs370937109
|
|
|
NM_000093.5(COL5A1):c.3906+3G>T
|
rs786200922
|
|
|
NM_000093.5(COL5A1):c.3906+8A>G
|
|
|
|
NM_000093.5(COL5A1):c.3907-15G>C
|
|
|
|
NM_000093.5(COL5A1):c.3907-18C>G
|
rs1838675880
|
|
|
NM_000093.5(COL5A1):c.3907-20C>T
|
|
|
|
NM_000093.5(COL5A1):c.3911C>T (p.Pro1304Leu)
|
rs1554805618
|
|
|
NM_000093.5(COL5A1):c.3916G>A (p.Gly1306Arg)
|
rs1588581652
|
|
|
NM_000093.5(COL5A1):c.3928G>A (p.Glu1310Lys)
|
|
|
|
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=)
|
rs367804791
|
|
|
NM_000093.5(COL5A1):c.3939G>A (p.Glu1313=)
|
rs886063676
|
|
|
NM_000093.5(COL5A1):c.3941C>T (p.Ser1314Leu)
|
rs2132853691
|
|
|
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser)
|
rs1838678972
|
|
|
NM_000093.5(COL5A1):c.3953G>T (p.Gly1318Val)
|
|
|
|
NM_000093.5(COL5A1):c.3957T>C (p.Ala1319=)
|
|
|
|
NM_000093.5(COL5A1):c.3958G>T (p.Ala1320Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3960C>G (p.Ala1320=)
|
|
|
|
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr)
|
|
|
|
NM_000093.5(COL5A1):c.3967C>T (p.Pro1323Ser)
|
|
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
|
NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu)
|
|
|
|
NM_000093.5(COL5A1):c.3984T>G (p.Pro1328=)
|
|
|
|
NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser)
|
rs1462221629
|
|
|
NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=)
|
rs770802769
|
|
|
NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg)
|
rs1060502254
|
|
|
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=)
|
rs1554805651
|
|
|
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
|
|
|
|
NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser)
|
rs759198874
|
|
|
NM_000093.5(COL5A1):c.4005A>G (p.Lys1335=)
|
rs2132853979
|
|
|
NM_000093.5(COL5A1):c.4014+10C>T
|
rs1434635162
|
|
|
NM_000093.5(COL5A1):c.4014+12A>G
|
|
|
|
NM_000093.5(COL5A1):c.4014+1G>A
|
rs2132854041
|
|
|
NM_000093.5(COL5A1):c.4014+4del
|
rs2132854046
|
|
|
NM_000093.5(COL5A1):c.4015-13T>G
|
|
|
|
NM_000093.5(COL5A1):c.4015-18_4015-15del
|
rs1360635637
|
|
|
NM_000093.5(COL5A1):c.4015-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
|
NM_000093.5(COL5A1):c.4020A>C (p.Pro1340=)
|
rs776564144
|
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
|
NM_000093.5(COL5A1):c.4039C>G (p.Pro1347Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4039C>T (p.Pro1347Ser)
|
rs769470285
|
|
|
NM_000093.5(COL5A1):c.4043G>C (p.Gly1348Ala)
|
rs1060502252
|
|
|
NM_000093.5(COL5A1):c.4045C>A (p.Pro1349Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala)
|
rs762699995
|
|
|
NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu)
|
rs1255890421
|
|
|
NM_000093.5(COL5A1):c.404C>T (p.Ser135Phe)
|
rs201997623
|
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
|
NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=)
|
rs773853291
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
|
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
|
|
|
|
NM_000093.5(COL5A1):c.4053A>C (p.Gly1351=)
|
|
|
|
NM_000093.5(COL5A1):c.4058C>T (p.Pro1353Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu)
|
rs2132855475
|
|
|
NM_000093.5(COL5A1):c.4068+9T>A
|
rs2132855525
|
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
|
NM_000093.5(COL5A1):c.4069-17C>T
|
|
|
|
NM_000093.5(COL5A1):c.4069-1G>T
|
rs1564478485
|
|
|
NM_000093.5(COL5A1):c.4069-6C>T
|
rs756079712
|
|
|
NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro)
|
|
|
|
NM_000093.5(COL5A1):c.4076A>G (p.Asp1359Gly)
|
|
|
|
NM_000093.5(COL5A1):c.4081C>A (p.Pro1361Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser)
|
|
|
|
NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4083C>A (p.Pro1361=)
|
|
|
|
NM_000093.5(COL5A1):c.4083C>G (p.Pro1361=)
|
rs868648962
|
|
|
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser)
|
rs2132856128
|
|
|
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs)
|
rs2132856138
|
|
|
NM_000093.5(COL5A1):c.4095A>G (p.Lys1365=)
|
|
|
|
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe)
|
rs145757313
|
|
|
NM_000093.5(COL5A1):c.40C>T (p.Arg14Cys)
|
|
|
|
NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=)
|
rs1588583076
|
|
|
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg)
|
rs1838729952
|
|
|
NM_000093.5(COL5A1):c.4122+12A>G
|
|
|
|
NM_000093.5(COL5A1):c.4122+1_4122+42dup
|
rs2132856269
|
|
|
NM_000093.5(COL5A1):c.4122+4A>C
|
|
|
|
NM_000093.5(COL5A1):c.4122+4A>G
|
|
|
|
NM_000093.5(COL5A1):c.4123-10C>T
|
rs1057524402
|
|
|
NM_000093.5(COL5A1):c.4123-11C>T
|
|
|
|
NM_000093.5(COL5A1):c.4123-17C>A
|
|
|
|
NM_000093.5(COL5A1):c.4123-4C>T
|
|
|
|
NM_000093.5(COL5A1):c.4123-6T>A
|
|
|
|
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs)
|
rs1131691820
|
|
|
NM_000093.5(COL5A1):c.4132G>T (p.Gly1378Cys)
|
|
|
|
NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn)
|
rs863223439
|
|
|
NM_000093.5(COL5A1):c.4144G>A (p.Glu1382Lys)
|
rs1554806121
|
|
|
NM_000093.5(COL5A1):c.4150G>C (p.Gly1384Arg)
|
rs2132858757
|
|
|
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=)
|
rs1383677988
|
|
|
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
|
NM_000093.5(COL5A1):c.4176+11C>G
|
|
|
|
NM_000093.5(COL5A1):c.4176+17G>C
|
|
|
|
NM_000093.5(COL5A1):c.4176+1G>T
|
|
|
|
NM_000093.5(COL5A1):c.4176+20C>T
|
rs2132858882
|
|
|
NM_000093.5(COL5A1):c.4177-11G>C
|
|
|
|
NM_000093.5(COL5A1):c.4177-16C>G
|
|
|
|
NM_000093.5(COL5A1):c.4177-18T>C
|
rs922274540
|
|
|
NM_000093.5(COL5A1):c.4177-8T>G
|
rs1838818747
|
|
|
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup)
|
rs2132861348
|
|
|
NM_000093.5(COL5A1):c.4189C>T (p.Pro1397Ser)
|
rs1838819571
|
|
|
NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg)
|
|
|
|
NM_000093.5(COL5A1):c.4191C>T (p.Pro1397=)
|
|
|
|
NM_000093.5(COL5A1):c.4192G>T (p.Ala1398Ser)
|
rs759464073
|
|
|
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=)
|
rs1397888531
|
|
|
NM_000093.5(COL5A1):c.4200C>T (p.Pro1400=)
|
rs752468183
|
|
|
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs)
|
rs1060502255
|
|
|
NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His)
|
rs1554806295
|
|
|
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
|
|
|
|
NM_000093.5(COL5A1):c.4230+13G>A
|
|
|
|
NM_000093.5(COL5A1):c.4230+5C>A
|
|
|
|
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
|
|
|
|
NM_000093.5(COL5A1):c.4230+7T>C
|
|
|
|
NM_000093.5(COL5A1):c.4231-11C>T
|
|
|
|
NM_000093.5(COL5A1):c.4231-12G>C
|
|
|
|
NM_000093.5(COL5A1):c.4231-16C>T
|
rs1057522679
|
|
|
NM_000093.5(COL5A1):c.4231-2A>G
|
|
|
|
NM_000093.5(COL5A1):c.4231-3C>T
|
|
|
|
NM_000093.5(COL5A1):c.4231-7C>G
|
|
|
|
NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp)
|
rs1564480902
|
|
|
NM_000093.5(COL5A1):c.423G>A (p.Glu141=)
|
rs2132569993
|
|
|
NM_000093.5(COL5A1):c.4245G>C (p.Leu1415Phe)
|
|
|
|
NM_000093.5(COL5A1):c.4251C>T (p.Gly1417=)
|
|
|
|
NM_000093.5(COL5A1):c.4252C>T (p.Pro1418Ser)
|
rs796151769
|
|
|
NM_000093.5(COL5A1):c.4255C>T (p.Pro1419Ser)
|
|
|
|
NM_000093.5(COL5A1):c.4256C>T (p.Pro1419Leu)
|
rs2132864006
|
|
|
NM_000093.5(COL5A1):c.4259G>A (p.Gly1420Glu)
|
|
|
|
NM_000093.5(COL5A1):c.4262A>T (p.Lys1421Met)
|
rs1838864887
|
|
|
NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs)
|
|
|
|
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe)
|
|
|
|
NM_000093.5(COL5A1):c.4275C>G (p.Ile1425Met)
|
rs767372665
|
|
|
NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu)
|
|
|
|
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs)
|
rs2132864123
|
|
|
NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4287G>A (p.Gly1429=)
|
rs936839849
|
|
|
NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=)
|
rs936839849
|
|
|
NM_000093.5(COL5A1):c.4289C>A (p.Ala1430Asp)
|
|
|
|
NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu)
|
rs1554806543
|
|
|
NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe)
|
|
|
|
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
|
rs2132864295
|
|
|
NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys)
|
rs561761305
|
|
|
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met)
|
rs561761305
|
|
|
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
|
rs864622040
|
|
|
NM_000093.5(COL5A1):c.4326C>A (p.Ile1442=)
|
rs942145911
|
|
|
NM_000093.5(COL5A1):c.432G>A (p.Thr144=)
|
rs528963362
|
|
|
NM_000093.5(COL5A1):c.432G>T (p.Thr144=)
|
rs528963362
|
|
|
NM_000093.5(COL5A1):c.4338+1G>A
|
rs1564481053
|
|
|
NM_000093.5(COL5A1):c.4338+5G>A
|
rs1352729728
|
|
|
NM_000093.5(COL5A1):c.4338+7A>G
|
|
|
|
NM_000093.5(COL5A1):c.4338+9G>A
|
|
|
|
NM_000093.5(COL5A1):c.4339-15G>A
|
|
|
|
NM_000093.5(COL5A1):c.4339-3C>G
|
rs545993723
|
|
|
NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg)
|
|
|
|
NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=)
|
rs1300586902
|
|
|
NM_000093.5(COL5A1):c.4351C>A (p.Leu1451Ile)
|
rs369740453
|
|
|
NM_000093.5(COL5A1):c.4351C>T (p.Leu1451Phe)
|
|
|
|
NM_000093.5(COL5A1):c.4358G>T (p.Gly1453Val)
|
rs1588587440
|
|
|
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val)
|
rs1564481157
|
|
|
NM_000093.5(COL5A1):c.4368C>G (p.Gly1456=)
|
|
|
|
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=)
|
rs1213186421
|
|
|
NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser)
|
|
|
|
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
|
|
|
|
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn)
|
rs577270517
|
|
|
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu)
|
rs201335857
|
|
|
NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser)
|
rs773125713
|
|
|
NM_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs)
|
rs2132864817
|
|
|
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs)
|
rs2132864836
|
|
|
NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4389del (p.Met1464fs)
|
rs2132864849
|
|
|
NM_000093.5(COL5A1):c.4392+10A>G
|
|
|
|
NM_000093.5(COL5A1):c.4392+11T>C
|
|
|
|
NM_000093.5(COL5A1):c.4392+14C>T
|
|
|
|
NM_000093.5(COL5A1):c.4392+6_4392+24dup
|
|
|
|
NM_000093.5(COL5A1):c.4393-13C>A
|
|
|
|
NM_000093.5(COL5A1):c.4393-15del
|
|
|
|
NM_000093.5(COL5A1):c.4393-16C>T
|
|
|
|
NM_000093.5(COL5A1):c.4393-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.4393-4_4398del
|
|
|
|
NM_000093.5(COL5A1):c.4393-6C>T
|
rs2132865196
|
|
|
NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)
|
|
|
|
NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
|
|
|
|
NM_000093.5(COL5A1):c.441T>C (p.Pro147=)
|
rs1833615155
|
|
|
NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His)
|
rs1554806674
|
|
|
NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro)
|
|
|
|
NM_000093.5(COL5A1):c.4446+14C>T
|
rs1564481400
|
|
|
NM_000093.5(COL5A1):c.4446+9G>C
|
|
|
|
NM_000093.5(COL5A1):c.4447-10T>G
|
rs1227842888
|
|
|
NM_000093.5(COL5A1):c.4447-16C>T
|
|
|
|
NM_000093.5(COL5A1):c.4447-17T>C
|
|
|
|
NM_000093.5(COL5A1):c.4447-18G>A
|
|
|
|
NM_000093.5(COL5A1):c.4447-19T>C
|
rs1554806958
|
|
|
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys)
|
rs1554806963
|
|
|
NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)
|
rs148669237
|
|
|
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=)
|
rs148669237
|
|
|
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)
|
rs1838935159
|
|
|
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu)
|
rs121912932
|
|
|
NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=)
|
rs878853653
|
|
|
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser)
|
rs863223458
|
|
|
NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del)
|
rs1838936100
|
|
|
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser)
|
rs1462918582
|
|
|
NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
|
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)
|
rs2228560
|
|
|
NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)
|
|
|
|
NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly)
|
rs1588589560
|
|
|
NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys)
|
rs1060502261
|
|
|
NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=)
|
|
|
|
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
|
|
|
|
NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=)
|
|
|
|
NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)
|
|
|
|
NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser)
|
rs148687561
|
|
|
NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)
|
|
|
|
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly)
|
|
|
|
NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser)
|
rs1489565447
|
|
|
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu)
|
rs373089071
|
|
|
NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs)
|
rs1588589663
|
|
|
NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)
|
|
|
|
NM_000093.5(COL5A1):c.4554+16C>A
|
|
|
|
NM_000093.5(COL5A1):c.4554+1G>C
|
rs1564482508
|
|
|
NM_000093.5(COL5A1):c.4554+20T>C
|
|
|
|
NM_000093.5(COL5A1):c.4554+20T>G
|
|
|
|
NM_000093.5(COL5A1):c.4554+6T>C
|
|
|
|
NM_000093.5(COL5A1):c.4555-11G>T
|
rs2132874427
|
|
|
NM_000093.5(COL5A1):c.4555-17T>A
|
|
|
|
NM_000093.5(COL5A1):c.4555-6T>C
|
rs1588592849
|
|
|
NM_000093.5(COL5A1):c.4555-6T>G
|
rs1588592849
|
|
|
NM_000093.5(COL5A1):c.4566_4574del (p.Ser1524_Pro1526del)
|
|
|
|
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)
|
rs1378626783
|
|
|
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
|
|
|
|
NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)
|
|
|
|
NM_000093.5(COL5A1):c.4573G>A (p.Gly1525Ser)
|
rs1564484053
|
|
|
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)
|
rs770238710
|
|
|
NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)
|
|
|
|
NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser)
|
rs1839028504
|
|
|
NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)
|
|
|
|
NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)
|
|
|
|
NM_000093.5(COL5A1):c.459C>A (p.Pro153=)
|
rs1588448882
|
|
|
NM_000093.5(COL5A1):c.459C>T (p.Pro153=)
|
rs1588448882
|
|
|
NM_000093.5(COL5A1):c.45G>A (p.Pro15=)
|
|
|
|
NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs)
|
rs2132874649
|
|
|
NM_000093.5(COL5A1):c.4608+14A>C
|
|
|
|
NM_000093.5(COL5A1):c.4608+18G>A
|
|
|
|
NM_000093.5(COL5A1):c.4608+18G>C
|
|
|
|
NM_000093.5(COL5A1):c.4608+19C>G
|
|
|
|
NM_000093.5(COL5A1):c.4608+7A>G
|
rs1554807494
|
|
|
NM_000093.5(COL5A1):c.4609-12CT[3]
|
|
|
|
NM_000093.5(COL5A1):c.4609-15C>T
|
rs769679819
|
|
|
NM_000093.5(COL5A1):c.4609-6C>T
|
rs1034866420
|
|
|
NM_000093.5(COL5A1):c.4609G>C (p.Gly1537Arg)
|
rs2132877751
|
|
|
NM_000093.5(COL5A1):c.4612C>A (p.Pro1538Thr)
|
rs1554807720
|
|
|
NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=)
|
rs1588594834
|
|
|
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)
|
rs1839084095
|
|
|
NM_000093.5(COL5A1):c.463T>C (p.Phe155Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)
|
|
|
|
NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)
|
|
|
|
NM_000093.5(COL5A1):c.4644+10A>G
|
rs373032507
|
|
|
NM_000093.5(COL5A1):c.4644+20G>C
|
|
|
|
NM_000093.5(COL5A1):c.4644+4A>G
|
rs1478447420
|
|
|
NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)
|
|
|
|
NM_000093.5(COL5A1):c.4645-10_4645-7del
|
rs2132879221
|
|
|
NM_000093.5(COL5A1):c.4645-12C>A
|
|
|
|
NM_000093.5(COL5A1):c.4645-17C>A
|
|
|
|
NM_000093.5(COL5A1):c.4645-4C>G
|
rs747264682
|
|
|
NM_000093.5(COL5A1):c.4645-5C>T
|
rs1308872784
|
|
|
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)
|
rs778312075
|
|
|
NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser)
|
rs863223460
|
|
|
NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)
|
|
|
|
NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser)
|
rs1554807811
|
|
|
NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs)
|
rs1554807812
|
|
|
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser)
|
rs1172057382
|
|
|
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp)
|
|
|
|
NM_000093.5(COL5A1):c.4673dup (p.His1559fs)
|
|
|
|
NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)
|
|
|
|
NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)
|
|
|
|
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
|
|
|
|
NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=)
|
|
|
|
NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=)
|
rs61735501
|
|
|
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=)
|
rs61735501
|
|
|
NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)
|
|
|
|
NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4695C>G (p.Pro1565=)
|
rs752029679
|
|
|
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)
|
rs1131691996
|
|
|
NM_000093.5(COL5A1):c.4698+16A>G
|
rs1232246029
|
|
|
NM_000093.5(COL5A1):c.4698+6T>G
|
|
|
|
NM_000093.5(COL5A1):c.4698+6dup
|
|
|
|
NM_000093.5(COL5A1):c.4698+9C>A
|
|
|
|
NM_000093.5(COL5A1):c.4698+9C>T
|
rs753030199
|
|
|
NM_000093.5(COL5A1):c.4699-14G>A
|
|
|
|
NM_000093.5(COL5A1):c.4699-19C>T
|
|
|
|
NM_000093.5(COL5A1):c.4699-3C>G
|
rs746861627
|
|
|
NM_000093.5(COL5A1):c.4699-3del
|
rs1554808051
|
|
|
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)
|
|
|
|
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile)
|
rs543014323
|
|
|
NM_000093.5(COL5A1):c.4714del (p.Val1572fs)
|
rs2132883536
|
|
|
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
|
|
|
|
NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)
|
|
|
|
NM_000093.5(COL5A1):c.4738del (p.Ala1580fs)
|
|
|
|
NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)
|
|
|
|
NM_000093.5(COL5A1):c.474_491+24del
|
|
|
|
NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro)
|
|
|
|
NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly)
|
|
|
|
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln)
|
rs531431738
|
|
|
NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu)
|
rs531431738
|
|
|
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=)
|
rs139332528
|
|
|
NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)
|
|
|
|
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=)
|
rs1318402758
|
|
|
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)
|
rs149212775
|
|
|
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)
|
rs1839191116
|
|
|
NM_000093.5(COL5A1):c.4805_4813del (p.Val1602_Tyr1604del)
|
rs752240390
|
|
|
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup)
|
rs752240390
|
|
|
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
|
rs145175057
|
|
|
NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=)
|
|
|
|
NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)
|
|
|
|
NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs)
|
rs2132884146
|
|
|
NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr)
|
|
|
|
NM_000093.5(COL5A1):c.484G>C (p.Asp162His)
|
rs1564396342
|
|
|
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp)
|
rs1064794238
|
|
|
NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=)
|
rs2132884435
|
|
|
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=)
|
rs1588598230
|
|
|
NM_000093.5(COL5A1):c.4892C>A (p.Thr1631Lys)
|
rs764446683
|
|
|
NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg)
|
rs764446683
|
|
|
NM_000093.5(COL5A1):c.4897C>G (p.Gln1633Glu)
|
rs1588598244
|
|
|
NM_000093.5(COL5A1):c.4909del (p.Arg1637fs)
|
rs1564487306
|
|
|
NM_000093.5(COL5A1):c.491+10C>A
|
rs757598488
|
|
|
NM_000093.5(COL5A1):c.491+11A>G
|
|
|
|
NM_000093.5(COL5A1):c.491+20C>T
|
|
|
|
NM_000093.5(COL5A1):c.491+3A>C
|
rs1554781526
|
|
|
NM_000093.5(COL5A1):c.491+9G>A
|
rs752150900
|
|
|
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)
|
rs80338764
|
|
|
NM_000093.5(COL5A1):c.492-18C>T
|
|
|
|
NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)
|
|
|
|
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=)
|
rs2132884637
|
|
|
NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter)
|
rs1219304070
|
|
|
NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr)
|
rs2132884669
|
|
|
NM_000093.5(COL5A1):c.4938C>T (p.His1646=)
|
|
|
|
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter)
|
rs1588449879
|
|
|
NM_000093.5(COL5A1):c.4954+11G>C
|
rs957818279
|
|
|
NM_000093.5(COL5A1):c.4954+11G>T
|
|
|
|
NM_000093.5(COL5A1):c.4954+15G>T
|
rs2132884821
|
|
|
NM_000093.5(COL5A1):c.4954+17del
|
|
|
|
NM_000093.5(COL5A1):c.4954+17dup
|
rs757067716
|
|
|
NM_000093.5(COL5A1):c.4954+4A>G
|
rs1564487377
|
|
|
NM_000093.5(COL5A1):c.4954+6G>C
|
rs1031138847
|
|
|
NM_000093.5(COL5A1):c.4955-15G>A
|
|
|
|
NM_000093.5(COL5A1):c.4955-1G>C
|
|
|
|
NM_000093.5(COL5A1):c.4955-20T>G
|
|
|
|
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp)
|
rs1206652736
|
|
|
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
|
|
|
|
NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)
|
|
|
|
NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)
|
|
|
|
NM_000093.5(COL5A1):c.4968C>G (p.Val1656=)
|
rs201871481
|
|
|
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)
|
|
|
|
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu)
|
rs1839242243
|
|
|
NM_000093.5(COL5A1):c.4987T>G (p.Ser1663Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly)
|
rs1588599794
|
|
|
NM_000093.5(COL5A1):c.499A>G (p.Arg167Gly)
|
|
|
|
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5009_5011dup (p.Tyr1670_Cys1671insTyr)
|
|
|
|
NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr)
|
rs1554808357
|
|
|
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe)
|
rs1554808357
|
|
|
NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=)
|
rs560774273
|
|
|
NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=)
|
rs560774273
|
|
|
NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg)
|
rs368448060
|
|
|
NM_000093.5(COL5A1):c.5026G>T (p.Gly1676Trp)
|
rs368448060
|
|
|
NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=)
|
|
|
|
NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)
|
|
|
|
NM_000093.5(COL5A1):c.5031del (p.Ser1678fs)
|
rs2132887747
|
|
|
NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs)
|
rs2132887783
|
|
|
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys)
|
rs1554808365
|
|
|
NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe)
|
rs1588599870
|
|
|
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
|
|
|
|
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
|
|
|
|
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
|
|
|
|
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
|
|
|
|
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)
|
|
|
|
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg)
|
rs1839245619
|
|
|
NM_000093.5(COL5A1):c.5066G>T (p.Gly1689Val)
|
|
|
|
NM_000093.5(COL5A1):c.5067+1G>A
|
rs1839245948
|
|
|
NM_000093.5(COL5A1):c.5067+4A>G
|
rs2132887922
|
|
|
NM_000093.5(COL5A1):c.5067+5G>A
|
|
|
|
NM_000093.5(COL5A1):c.5068-14C>G
|
|
|
|
NM_000093.5(COL5A1):c.5068-14C>T
|
|
|
|
NM_000093.5(COL5A1):c.5068-19C>T
|
|
|
|
NM_000093.5(COL5A1):c.5068-20C>T
|
rs908690867
|
|
|
NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe)
|
rs1564183635
|
|
|
NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)
|
|
|
|
NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)
|
|
|
|
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del)
|
|
|
|
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[3] (p.Pro21_Leu24dup)
|
rs1444295577
|
|
|
NM_000093.5(COL5A1):c.5105C>T (p.Ser1702Phe)
|
|
|
|
NM_000093.5(COL5A1):c.5110T>C (p.Phe1704Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5112C>T (p.Phe1704=)
|
|
|
|
NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=)
|
rs2132907681
|
|
|
NM_000093.5(COL5A1):c.5136+13C>T
|
rs1839537836
|
|
|
NM_000093.5(COL5A1):c.5136+15G>A
|
|
|
|
NM_000093.5(COL5A1):c.5136+16G>T
|
|
|
|
NM_000093.5(COL5A1):c.5136+18G>A
|
|
|
|
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT
|
rs1839542247
|
|
|
NM_000093.5(COL5A1):c.5136+8G>C
|
rs770378717
|
|
|
NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=)
|
|
|
|
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC
|
rs1839537297
|
|
|
NM_000093.5(COL5A1):c.5137-11T>A
|
rs183495554
|
|
|
NM_000093.5(COL5A1):c.5137-12_5137-11del
|
|
|
|
NM_000093.5(COL5A1):c.5137-18A>G
|
|
|
|
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
|
|
|
|
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del)
|
rs1060502250
|
|
|
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=)
|
rs772597610
|
|
|
NM_000093.5(COL5A1):c.514G>A (p.Val172Ile)
|
rs150147262
|
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
|
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=)
|
rs147434147
|
|
|
NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)
|
|
|
|
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter)
|
rs776640704
|
|
|
NM_000093.5(COL5A1):c.5159G>T (p.Gly1720Val)
|
rs1243519195
|
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
|
NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser)
|
rs1482037877
|
|
|
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr)
|
rs1839797107
|
|
|
NM_000093.5(COL5A1):c.5173G>A (p.Val1725Met)
|
rs972629744
|
|
|
NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer)
|
rs2132925550
|
|
|
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
|
rs201379514
|
|
|
NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=)
|
rs1839798652
|
|
|
NM_000093.5(COL5A1):c.519C>T (p.His173=)
|
|
|
|
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=)
|
|
|
|
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
|
rs1588615451
|
|
|
NM_000093.5(COL5A1):c.5217C>T (p.His1739=)
|
rs869025374
|
|
|
NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter)
|
rs2132925640
|
|
|
NM_000093.5(COL5A1):c.5226C>T (p.Val1742=)
|
rs1355725982
|
|
|
NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs)
|
rs2132925682
|
|
|
NM_000093.5(COL5A1):c.5236T>A (p.Cys1746Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
|
|
|
|
NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)
|
|
|
|
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
|
|
|
|
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr)
|
rs769947722
|
|
|
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly)
|
rs1839802608
|
|
|
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
|
|
|
|
NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5288C>T (p.Ala1763Val)
|
|
|
|
NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His)
|
rs2132925845
|
|
|
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs)
|
rs1839803841
|
|
|
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=)
|
rs1564187943
|
|
|
NM_000093.5(COL5A1):c.5299del (p.Leu1767fs)
|
rs1554726279
|
|
|
NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp)
|
rs1588615582
|
|
|
NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro)
|
|
|
|
NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)
|
|
|
|
NM_000093.5(COL5A1):c.5308A>G (p.Asn1770Asp)
|
rs2132926010
|
|
|
NM_000093.5(COL5A1):c.5310C>G (p.Asn1770Lys)
|
rs764817290
|
|
|
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=)
|
rs753245063
|
|
|
NM_000093.5(COL5A1):c.5317del (p.Glu1773fs)
|
rs1554726283
|
|
|
NM_000093.5(COL5A1):c.5318A>G (p.Glu1773Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)
|
|
|
|
NM_000093.5(COL5A1):c.531C>G (p.Val177=)
|
|
|
|
NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)
|
|
|
|
NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr)
|
rs1554726285
|
|
|
NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=)
|
rs1375535475
|
|
|
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs)
|
rs1588615658
|
|
|
NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs)
|
rs2132926166
|
|
|
NM_000093.5(COL5A1):c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn)
|
rs2132926191
|
|
|
NM_000093.5(COL5A1):c.5345T>A (p.Ile1782Asn)
|
rs1403819684
|
|
|
NM_000093.5(COL5A1):c.5348G>C (p.Arg1783Pro)
|
|
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
|
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser)
|
rs143859495
|
|
|
NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro)
|
|
|
|
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)
|
rs863223475
|
|
|
NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)
|
|
|
|
NM_000093.5(COL5A1):c.5360A>G (p.Asp1787Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5370+16C>T
|
|
|
|
NM_000093.5(COL5A1):c.5370+17G>A
|
|
|
|
NM_000093.5(COL5A1):c.5370+18C>T
|
rs370535777
|
|
|
NM_000093.5(COL5A1):c.5370+19G>A
|
|
|
|
NM_000093.5(COL5A1):c.5370+3_5370+6del
|
rs786200923
|
|
|
NM_000093.5(COL5A1):c.5371-12C>T
|
rs769740900
|
|
|
NM_000093.5(COL5A1):c.5371-15C>A
|
|
|
|
NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC
|
|
|
|
NM_000093.5(COL5A1):c.5371-6C>A
|
|
|
|
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs)
|
rs1830124408
|
|
|
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)
|
rs1588621711
|
|
|
NM_000093.5(COL5A1):c.5390A>G (p.Lys1797Arg)
|
|
|
|
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
|
|
|
|
NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser)
|
rs755260686
|
|
|
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser)
|
rs554332661
|
|
|
NM_000093.5(COL5A1):c.5414C>A (p.Pro1805His)
|
rs377563294
|
|
|
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg)
|
rs377563294
|
|
|
NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=)
|
rs1002314921
|
|
|
NM_000093.5(COL5A1):c.5415del (p.Val1807fs)
|
rs2132943031
|
|
|
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu)
|
rs1830127605
|
|
|
NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)
|
|
|
|
NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu)
|
rs1588621758
|
|
|
NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter)
|
rs2132943056
|
|
|
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)
|
|
|
|
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu)
|
rs1554727362
|
|
|
NM_000093.5(COL5A1):c.543C>G (p.Leu181=)
|
|
|
|
NM_000093.5(COL5A1):c.544G>T (p.Asp182Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.5464G>A (p.Glu1822Lys)
|
|
|
|
NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)
|
|
|
|
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val)
|
rs747656987
|
|
|
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=)
|
rs367657505
|
|
|
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)
|
rs1057518004
|
|
|
NM_000093.5(COL5A1):c.5476A>C (p.Lys1826Gln)
|
|
|
|
NM_000093.5(COL5A1):c.547_576dup (p.Asp192_Arg193insCysLysLysLysThrThrLysPheLeuAsp)
|
|
|
|
NM_000093.5(COL5A1):c.548G>A (p.Cys183Tyr)
|
rs1060502251
|
|
|
NM_000093.5(COL5A1):c.5491G>A (p.Val1831Met)
|
|
|
|
NM_000093.5(COL5A1):c.5494G>C (p.Gly1832Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu)
|
rs1554727410
|
|
|
NM_000093.5(COL5A1):c.5495G>C (p.Gly1832Ala)
|
|
|
|
NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs)
|
rs1564191704
|
|
|
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser)
|
rs1060502246
|
|
|
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr)
|
|
|
|
NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp)
|
|
|
|
NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=)
|
rs1060504530
|
|
|
NM_000093.5(COL5A1):c.561C>G (p.Thr187=)
|
|
|
|
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
|
|
|
|
NM_000093.5(COL5A1):c.576C>T (p.Asp192=)
|
|
|
|
NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser)
|
|
|
|
NM_000093.5(COL5A1):c.58C>T (p.Leu20=)
|
|
|
|
NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu)
|
rs1365787866
|
|
|
NM_000093.5(COL5A1):c.592A>G (p.Met198Val)
|
rs1833664488
|
|
|
NM_000093.5(COL5A1):c.597C>T (p.Ile199=)
|
rs147008954
|
|
|
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu)
|
rs371351417
|
|
|
NM_000093.5(COL5A1):c.608G>A (p.Gly203Asp)
|
|
|
|
NM_000093.5(COL5A1):c.611T>C (p.Ile204Thr)
|
rs773693941
|
|
|
NM_000093.5(COL5A1):c.613A>G (p.Ile205Val)
|
rs1833666024
|
|
|
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
|
|
|
|
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
|
|
|
|
NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu)
|
|
|
|
NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser)
|
|
|
|
NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile)
|
|
|
|
NM_000093.5(COL5A1):c.63C>T (p.Pro21=)
|
|
|
|
NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys)
|
rs763107415
|
|
|
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter)
|
rs2132573338
|
|
|
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu)
|
|
|
|
NM_000093.5(COL5A1):c.654+14C>T
|
|
|
|
NM_000093.5(COL5A1):c.655-17C>A
|
|
|
|
NM_000093.5(COL5A1):c.655-17C>T
|
rs560814216
|
|
|
NM_000093.5(COL5A1):c.655-1917_690del
|
|
|
|
NM_000093.5(COL5A1):c.655-1G>A
|
|
|
|
NM_000093.5(COL5A1):c.655-20G>T
|
|
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
|
NM_000093.5(COL5A1):c.655-9C>G
|
|
|
|
NM_000093.5(COL5A1):c.655-9_655-7del
|
|
|
|
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
|
|
|
|
NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg)
|
rs1554787531
|
|
|
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
|
|
|
|
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
|
|
|
|
NM_000093.5(COL5A1):c.67C>G (p.Leu23Val)
|
|
|
|
NM_000093.5(COL5A1):c.67CTG[4] (p.Leu27_Leu28del)
|
|
|
|
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del)
|
rs773994971
|
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
|
NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup)
|
rs773994971
|
|
|
NM_000093.5(COL5A1):c.695C>T (p.Ala232Val)
|
rs1834699128
|
|
|
NM_000093.5(COL5A1):c.707A>G (p.Tyr236Cys)
|
rs2132632715
|
|
|
NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter)
|
|
|
|
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr)
|
rs1588475947
|
|
|
NM_000093.5(COL5A1):c.716A>G (p.His239Arg)
|
|
|
|
NM_000093.5(COL5A1):c.71T>A (p.Leu24Gln)
|
|
|
|
NM_000093.5(COL5A1):c.722G>A (p.Ser241Asn)
|
|
|
|
NM_000093.5(COL5A1):c.729C>G (p.Asp243Glu)
|
rs1834700553
|
|
|
NM_000093.5(COL5A1):c.730T>C (p.Cys244Arg)
|
|
|
|
NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.731G>C (p.Cys244Ser)
|
|
|
|
NM_000093.5(COL5A1):c.741A>G (p.Ala247=)
|
rs1300981240
|
|
|
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg)
|
rs1831316527
|
|
|
NM_000093.5(COL5A1):c.753C>A (p.Thr251=)
|
rs374813957
|
|
|
NM_000093.5(COL5A1):c.75G>A (p.Leu25=)
|
rs2132455041
|
|
|
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
|
rs144844792
|
|
|
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)
|
|
|
|
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg)
|
rs1831316736
|
|
|
NM_000093.5(COL5A1):c.780T>C (p.Asp260=)
|
rs1588476059
|
|
|
NM_000093.5(COL5A1):c.786+11T>C
|
|
|
|
NM_000093.5(COL5A1):c.786+135A>G
|
rs2132633168
|
|
|
NM_000093.5(COL5A1):c.786+15G>T
|
|
|
|
NM_000093.5(COL5A1):c.786+18G>A
|
|
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
|
NM_000093.5(COL5A1):c.786+5G>A
|
rs2132632978
|
|
|
NM_000093.5(COL5A1):c.786+5G>T
|
|
|
|
NM_000093.5(COL5A1):c.786+8_786+12del
|
rs1564414492
|
|
|
NM_000093.5(COL5A1):c.787-13A>G
|
|
|
|
NM_000093.5(COL5A1):c.787-15G>T
|
|
|
|
NM_000093.5(COL5A1):c.787-16del
|
|
|
|
NM_000093.5(COL5A1):c.787-8G>A
|
rs780803048
|
|
|
NM_000093.5(COL5A1):c.787-8G>C
|
rs780803048
|
|
|
NM_000093.5(COL5A1):c.787-8G>T
|
|
|
|
NM_000093.5(COL5A1):c.787-9C>T
|
rs751472921
|
|
|
NM_000093.5(COL5A1):c.792G>A (p.Thr264=)
|
rs757360763
|
|
|
NM_000093.5(COL5A1):c.792G>T (p.Thr264=)
|
rs757360763
|
|
|
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe)
|
rs1383699147
|
|
|
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser)
|
rs748603743
|
|
|
NM_000093.5(COL5A1):c.807G>A (p.Glu269=)
|
|
|
|
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser)
|
rs1834748686
|
|
|
NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys)
|
rs1834748686
|
|
|
NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys)
|
|
|
|
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
|
|
|
|
NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp)
|
rs1834749472
|
|
|
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=)
|
|
|
|
NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys)
|
|
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
|
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly)
|
|
|
|
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro)
|
|
|
|
NM_000093.5(COL5A1):c.858A>G (p.Leu286=)
|
|
|
|
NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu)
|
rs1588477287
|
|
|
NM_000093.5(COL5A1):c.861G>T (p.Gly287=)
|
|
|
|
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
|
|
|
|
NM_000093.5(COL5A1):c.867G>A (p.Glu289=)
|
|
|
|
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala)
|
rs754640324
|
|
|
NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser)
|
rs754640324
|
|
|
NM_000093.5(COL5A1):c.873C>A (p.Thr291=)
|
rs1834751406
|
|
|
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
|
rs1834751333
|
|
|
NM_000093.5(COL5A1):c.889G>A (p.Val297Met)
|
|
|
|
NM_000093.5(COL5A1):c.891G>A (p.Val297=)
|
|
|
|
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter)
|
rs1554787811
|
|
|
NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr)
|
|
|
|
NM_000093.5(COL5A1):c.921C>A (p.Pro307=)
|
|
|
|
NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys)
|
rs770173348
|
|
|
NM_000093.5(COL5A1):c.924+14G>C
|
|
|
|
NM_000093.5(COL5A1):c.924+15G>A
|
|
|
|
NM_000093.5(COL5A1):c.924+16G>C
|
|
|
|
NM_000093.5(COL5A1):c.924+17G>A
|
|
|
|
NM_000093.5(COL5A1):c.924+18G>A
|
|
|
|
NM_000093.5(COL5A1):c.924+8C>G
|
rs2132635461
|
|
|
NM_000093.5(COL5A1):c.925-11T>C
|
|
|
|
NM_000093.5(COL5A1):c.925-11T>G
|
|
|
|
NM_000093.5(COL5A1):c.925-12C>T
|
|
|
|
NM_000093.5(COL5A1):c.925-2A>C
|
rs2132639011
|
|
|
NM_000093.5(COL5A1):c.927G>A (p.Glu309=)
|
|
|
|
NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln)
|
rs1410664123
|
|
|
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg)
|
rs367726185
|
|
|
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu)
|
rs367726185
|
|
|
NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu)
|
|
|
|
NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala)
|
|
|
|
NM_000093.5(COL5A1):c.957C>T (p.Pro319=)
|
rs2132639092
|
|
|
NM_000093.5(COL5A1):c.959T>A (p.Met320Lys)
|
|
|
|
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
|
|
|
|
NM_000093.5(COL5A1):c.960G>A (p.Met320Ile)
|
|
|
|
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu)
|
rs576742644
|
|
|
NM_000093.5(COL5A1):c.993G>A (p.Glu331=)
|
rs1834830929
|
|
|
NM_000302.3(PLOD1):c.1756_1902del
|
|
|
|
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
|
|
|
|
NM_000302.4(PLOD1):c.*117A>G
|
rs886045210
|
|
|
NM_000302.4(PLOD1):c.*276T>C
|
rs886045212
|
|
|
NM_000302.4(PLOD1):c.*308C>G
|
rs886045213
|
|
|
NM_000302.4(PLOD1):c.*419C>T
|
rs886045214
|
|
|
NM_000302.4(PLOD1):c.*461G>T
|
rs1271843257
|
|
|
NM_000302.4(PLOD1):c.*61T>C
|
rs886045209
|
|
|
NM_000302.4(PLOD1):c.-61C>T
|
rs566803699
|
|
|
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)
|
rs747037908
|
|
|
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
|
rs1569713366
|
|
|
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
|
|
|
|
NM_000302.4(PLOD1):c.1038T>G (p.Ser346=)
|
|
|
|
NM_000302.4(PLOD1):c.1050G>C (p.Val350=)
|
|
|
|
NM_000302.4(PLOD1):c.1077A>G (p.Ala359=)
|
rs1569713675
|
|
|
NM_000302.4(PLOD1):c.1097+11G>C
|
|
|
|
NM_000302.4(PLOD1):c.1097+13C>T
|
|
|
|
NM_000302.4(PLOD1):c.1097+14C>T
|
|
|
|
NM_000302.4(PLOD1):c.1097+17A>C
|
|
|
|
NM_000302.4(PLOD1):c.1097+17A>G
|
|
|
|
NM_000302.4(PLOD1):c.1097+17A>T
|
|
|
|
NM_000302.4(PLOD1):c.1097+17dup
|
|
|
|
NM_000302.4(PLOD1):c.1097+18G>C
|
|
|
|
NM_000302.4(PLOD1):c.1097+1G>A
|
rs1389548210
|
|
|
NM_000302.4(PLOD1):c.1097+1G>C
|
|
|
|
NM_000302.4(PLOD1):c.1097+7T>C
|
|
|
|
NM_000302.4(PLOD1):c.1098-11C>T
|
|
|
|
NM_000302.4(PLOD1):c.1098-13C>G
|
|
|
|
NM_000302.4(PLOD1):c.1098-13C>T
|
rs372681138
|
|
|
NM_000302.4(PLOD1):c.1098-19T>C
|
|
|
|
NM_000302.4(PLOD1):c.1098-20C>T
|
|
|
|
NM_000302.4(PLOD1):c.1098-20_1098-19del
|
|
|
|
NM_000302.4(PLOD1):c.1098-5T>C
|
|
|
|
NM_000302.4(PLOD1):c.1098-8C>G
|
|
|
|
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr)
|
rs2100756894
|
|
|
NM_000302.4(PLOD1):c.10C>T (p.Leu4=)
|
|
|
|
NM_000302.4(PLOD1):c.1101C>T (p.Asp367=)
|
|
|
|
NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)
|
|
|
|
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs)
|
|
|
|
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp)
|
rs763065699
|
|
|
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe)
|
rs749210400
|
|
|
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu)
|
rs2230896
|
|
|
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala)
|
rs998178222
|
|
|
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly)
|
rs998178222
|
|
|
NM_000302.4(PLOD1):c.114C>T (p.Thr38=)
|
rs11553679
|
|
|
NM_000302.4(PLOD1):c.1170C>T (p.Pro390=)
|
rs1482515706
|
|
|
NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs)
|
rs2100756997
|
|
|
NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)
|
|
|
|
NM_000302.4(PLOD1):c.1186C>T (p.Leu396=)
|
|
|
|
NM_000302.4(PLOD1):c.1191C>A (p.Ile397=)
|
rs899107980
|
|
|
NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
|
|
|
|
NM_000302.4(PLOD1):c.1202+11T>A
|
|
|
|
NM_000302.4(PLOD1):c.1202+12C>A
|
|
|
|
NM_000302.4(PLOD1):c.1202+13C>T
|
|
|
|
NM_000302.4(PLOD1):c.1202+15T>C
|
|
|
|
NM_000302.4(PLOD1):c.1202+19C>T
|
|
|
|
NM_000302.4(PLOD1):c.1202+1G>A
|
|
|
|
NM_000302.4(PLOD1):c.1202+2T>C
|
|
|
|
NM_000302.4(PLOD1):c.1202+9G>C
|
|
|
|
NM_000302.4(PLOD1):c.1203-10C>G
|
rs1569721056
|
|
|
NM_000302.4(PLOD1):c.1203-13T>C
|
|
|
|
NM_000302.4(PLOD1):c.1203-16del
|
|
|
|
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala)
|
rs760764359
|
|
|
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser)
|
rs760764359
|
|
|
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln)
|
rs371001571
|
|
|
NM_000302.4(PLOD1):c.1230G>T (p.Arg410=)
|
|
|
|
NM_000302.4(PLOD1):c.1233T>C (p.His411=)
|
|
|
|
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu)
|
rs2100757756
|
|
|
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro)
|
rs1569721294
|
|
|
NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)
|
|
|
|
NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
|
|
|
|
NM_000302.4(PLOD1):c.125G>A (p.Arg42His)
|
rs202116614
|
|
|
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
|
|
|
|
NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
|
|
|
|
NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)
|
|
|
|
NM_000302.4(PLOD1):c.1284T>C (p.Tyr428=)
|
|
|
|
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
|
|
|
|
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala)
|
rs1645800221
|
|
|
NM_000302.4(PLOD1):c.1305G>A (p.Val435=)
|
|
|
|
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
|
|
|
|
NM_000302.4(PLOD1):c.1321C>A (p.Arg441=)
|
rs11553676
|
|
|
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln)
|
rs934141011
|
|
|
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe)
|
rs1445338657
|
|
|
NM_000302.4(PLOD1):c.1328+16G>A
|
|
|
|
NM_000302.4(PLOD1):c.1328+1G>A
|
|
|
|
NM_000302.4(PLOD1):c.1329-13G>A
|
|
|
|
NM_000302.4(PLOD1):c.1329-1G>T
|
rs112460511
|
|
|
NM_000302.4(PLOD1):c.1329-6C>T
|
|
|
|
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)
|
rs922997919
|
|
|
NM_000302.4(PLOD1):c.1344G>A (p.Val448=)
|
|
|
|
NM_000302.4(PLOD1):c.1347C>G (p.Pro449=)
|
|
|
|
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys)
|
rs1264798278
|
|
|
NM_000302.4(PLOD1):c.1356A>T (p.Ser452=)
|
|
|
|
NM_000302.4(PLOD1):c.1359C>T (p.Asn453=)
|
|
|
|
NM_000302.4(PLOD1):c.1362del (p.Tyr455fs)
|
rs2100758252
|
|
|
NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
|
|
|
|
NM_000302.4(PLOD1):c.1386G>A (p.Leu462=)
|
|
|
|
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val)
|
rs1645803161
|
|
|
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
|
|
|
|
NM_000302.4(PLOD1):c.1401G>A (p.Gln467=)
|
rs2100758313
|
|
|
NM_000302.4(PLOD1):c.1419C>T (p.His473=)
|
|
|
|
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro)
|
rs2100758364
|
|
|
NM_000302.4(PLOD1):c.1437C>T (p.Pro479=)
|
|
|
|
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val)
|
rs2100758386
|
|
|
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser)
|
rs1490187110
|
|
|
NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter)
|
rs1189324317
|
|
|
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
|
|
|
|
NM_000302.4(PLOD1):c.1464G>A (p.Arg488=)
|
rs2100758413
|
|
|
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg)
|
rs1156431423
|
|
|
NM_000302.4(PLOD1):c.1470+11A>G
|
rs768467070
|
|
|
NM_000302.4(PLOD1):c.1470+12G>A
|
|
|
|
NM_000302.4(PLOD1):c.1470+13C>T
|
|
|
|
NM_000302.4(PLOD1):c.1470+18A>G
|
|
|
|
NM_000302.4(PLOD1):c.1470+2T>C
|
rs886043927
|
|
|
NM_000302.4(PLOD1):c.1470+5G>A
|
rs1553136223
|
|
|
NM_000302.4(PLOD1):c.1471-13C>T
|
|
|
|
NM_000302.4(PLOD1):c.1471-14C>T
|
rs2100759144
|
|
|
NM_000302.4(PLOD1):c.1471-16G>T
|
|
|
|
NM_000302.4(PLOD1):c.1471-17G>C
|
|
|
|
NM_000302.4(PLOD1):c.1471-17G>T
|
|
|
|
NM_000302.4(PLOD1):c.1471-18del
|
|
|
|
NM_000302.4(PLOD1):c.1471-20A>G
|
|
|
|
NM_000302.4(PLOD1):c.1471-4C>T
|
|
|
|
NM_000302.4(PLOD1):c.1471-8C>G
|
|
|
|
NM_000302.4(PLOD1):c.1471-9C>A
|
rs376476977
|
|
|
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT
|
rs1553136318
|
|
|
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn)
|
rs1283020139
|
|
|
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly)
|
rs2100759169
|
|
|
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile)
|
rs750942824
|
|
|
NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)
|
|
|
|
NM_000302.4(PLOD1):c.1479dup (p.Met494fs)
|
rs1569724692
|
|
|
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
|
|
|
|
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys)
|
rs1645810603
|
|
|
NM_000302.4(PLOD1):c.1494C>T (p.Asn498=)
|
rs1645810603
|
|
|
NM_000302.4(PLOD1):c.1511_1513del (p.His504del)
|
rs2100759209
|
|
|
NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
|
|
|
|
NM_000302.4(PLOD1):c.1546C>T (p.Leu516=)
|
|
|
|
NM_000302.4(PLOD1):c.1548G>C (p.Leu516=)
|
|
|
|
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
|
|
|
|
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
|
|
|
|
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu)
|
rs1429074293
|
|
|
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys)
|
rs758701213
|
|
|
NM_000302.4(PLOD1):c.1578C>T (p.Asn526=)
|
|
|
|
NM_000302.4(PLOD1):c.1584+11G>C
|
|
|
|
NM_000302.4(PLOD1):c.1584+12G>T
|
|
|
|
NM_000302.4(PLOD1):c.1584+16G>A
|
|
|
|
NM_000302.4(PLOD1):c.1584+1G>A
|
rs746930362
|
|
|
NM_000302.4(PLOD1):c.1584+1G>T
|
|
|
|
NM_000302.4(PLOD1):c.1584+20A>G
|
|
|
|
NM_000302.4(PLOD1):c.1585-11A>T
|
|
|
|
NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]
|
|
|
|
NM_000302.4(PLOD1):c.1585-19T>C
|
rs1645816365
|
|
|
NM_000302.4(PLOD1):c.1585-2A>G
|
|
|
|
NM_000302.4(PLOD1):c.1585-5C>A
|
|
|
|
NM_000302.4(PLOD1):c.1585-7C>T
|
|
|
|
NM_000302.4(PLOD1):c.1585-9T>G
|
|
|
|
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del)
|
rs797044446
|
|
|
NM_000302.4(PLOD1):c.159C>T (p.Tyr53=)
|
rs1569682156
|
|
|
NM_000302.4(PLOD1):c.1605C>T (p.Ile535=)
|
|
|
|
NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)
|
|
|
|
NM_000302.4(PLOD1):c.1627C>T (p.Leu543=)
|
|
|
|
NM_000302.4(PLOD1):c.1632A>T (p.Ala544=)
|
|
|
|
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg)
|
rs886045204
|
|
|
NM_000302.4(PLOD1):c.1635G>A (p.Gly545=)
|
rs2100760044
|
|
|
NM_000302.4(PLOD1):c.1638G>A (p.Lys546=)
|
rs1569726862
|
|
|
NM_000302.4(PLOD1):c.1646del (p.Glu549fs)
|
rs2100760068
|
|
|
NM_000302.4(PLOD1):c.1650+11T>C
|
|
|
|
NM_000302.4(PLOD1):c.1650+12G>A
|
|
|
|
NM_000302.4(PLOD1):c.1650+13del
|
|
|
|
NM_000302.4(PLOD1):c.1650+15C>T
|
|
|
|
NM_000302.4(PLOD1):c.1650+16_1650+19del
|
|
|
|
NM_000302.4(PLOD1):c.1650+18C>A
|
|
|
|
NM_000302.4(PLOD1):c.1650+19C>T
|
|
|
|
NM_000302.4(PLOD1):c.1650+20T>C
|
|
|
|
NM_000302.4(PLOD1):c.1650+8C>T
|
|
|
|
NM_000302.4(PLOD1):c.1651-16T>A
|
|
|
|
NM_000302.4(PLOD1):c.1651-19G>A
|
|
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
|
NM_000302.4(PLOD1):c.1651-2del
|
rs797044447
|
|
|
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser)
|
rs1324129456
|
|
|
NM_000302.4(PLOD1):c.1653C>A (p.Pro551=)
|
|
|
|
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
|
|
|
|
NM_000302.4(PLOD1):c.1665C>T (p.Val555=)
|
|
|
|
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
|
|
|
|
NM_000302.4(PLOD1):c.168+16G>A
|
|
|
|
NM_000302.4(PLOD1):c.168+1G>T
|
|
|
|
NM_000302.4(PLOD1):c.168+9T>C
|
|
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
|
NM_000302.4(PLOD1):c.169-12G>A
|
|
|
|
NM_000302.4(PLOD1):c.169-16G>A
|
|
|
|
NM_000302.4(PLOD1):c.169-17G>A
|
|
|
|
NM_000302.4(PLOD1):c.169-4C>T
|
|
|
|
NM_000302.4(PLOD1):c.1692G>A (p.Val564=)
|
|
|
|
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe)
|
rs377325169
|
|
|
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
|
|
|
|
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys)
|
rs761949919
|
|
|
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln)
|
rs773547480
|
|
|
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
|
|
|
|
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val)
|
rs753862253
|
|
|
NM_000302.4(PLOD1):c.1710G>A (p.Val570=)
|
|
|
|
NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
|
|
|
|
NM_000302.4(PLOD1):c.1713G>A (p.Glu571=)
|
|
|
|
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr)
|
rs1645823972
|
|
|
NM_000302.4(PLOD1):c.171G>A (p.Ala57=)
|
|
|
|
NM_000302.4(PLOD1):c.1722G>A (p.Glu574=)
|
|
|
|
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp)
|
rs1331435501
|
|
|
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
|
|
|
|
NM_000302.4(PLOD1):c.174T>G (p.Leu58=)
|
rs2100743311
|
|
|
NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)
|
|
|
|
NM_000302.4(PLOD1):c.1755+20G>T
|
|
|
|
NM_000302.4(PLOD1):c.1755+9C>G
|
|
|
|
NM_000302.4(PLOD1):c.1755+9C>T
|
|
|
|
NM_000302.4(PLOD1):c.1756-12G>T
|
|
|
|
NM_000302.4(PLOD1):c.1756-13C>A
|
|
|
|
NM_000302.4(PLOD1):c.1756-13C>G
|
|
|
|
NM_000302.4(PLOD1):c.1756-15C>G
|
|
|
|
NM_000302.4(PLOD1):c.1756-1_1767dup
|
|
|
|
NM_000302.4(PLOD1):c.1756-20T>G
|
rs1310114003
|
|
|
NM_000302.4(PLOD1):c.1756-6C>A
|
|
|
|
NM_000302.4(PLOD1):c.1756-7C>T
|
|
|
|
NM_000302.4(PLOD1):c.1756-9C>T
|
|
|
|
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
|
|
|
|
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
|
|
|
|
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu)
|
rs755346019
|
|
|
NM_000302.4(PLOD1):c.1764C>T (p.Arg588=)
|
|
|
|
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro)
|
rs2100764621
|
|
|
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala)
|
rs138106022
|
|
|
NM_000302.4(PLOD1):c.1772del (p.Gly591fs)
|
rs1645855563
|
|
|
NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)
|
|
|
|
NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=)
|
|
|
|
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
|
|
|
|
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
|
rs771350321
|
|
|
NM_000302.4(PLOD1):c.1785C>T (p.Asn595=)
|
|
|
|
NM_000302.4(PLOD1):c.1791G>A (p.Pro597=)
|
rs151051718
|
|
|
NM_000302.4(PLOD1):c.1791G>C (p.Pro597=)
|
rs151051718
|
|
|
NM_000302.4(PLOD1):c.1794T>G (p.Thr598=)
|
rs773916889
|
|
|
NM_000302.4(PLOD1):c.1795del (p.Ile599fs)
|
rs1557500194
|
|
|
NM_000302.4(PLOD1):c.1800C>T (p.Asp600=)
|
|
|
|
NM_000302.4(PLOD1):c.1803C>T (p.Ile601=)
|
|
|
|
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
|
|
|
|
NM_000302.4(PLOD1):c.1806C>T (p.His602=)
|
|
|
|
NM_000302.4(PLOD1):c.180A>G (p.Leu60=)
|
|
|
|
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
|
|
|
|
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
|
|
|
|
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
|
|
|
|
NM_000302.4(PLOD1):c.1815G>A (p.Gln605=)
|
|
|
|
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=)
|
rs372579008
|
|
|
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
|
|
|
|
NM_000302.4(PLOD1):c.1833G>A (p.Glu611=)
|
|
|
|
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys)
|
rs121913553
|
|
|
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln)
|
rs768638113
|
|
|
NM_000302.4(PLOD1):c.1839_1902+64del
|
rs2100764790
|
|
|
NM_000302.4(PLOD1):c.183G>A (p.Gly61=)
|
|
|
|
NM_000302.4(PLOD1):c.1863G>A (p.Ala621=)
|
rs912522044
|
|
|
NM_000302.4(PLOD1):c.1866C>G (p.Pro622=)
|
|
|
|
NM_000302.4(PLOD1):c.1866C>T (p.Pro622=)
|
|
|
|
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met)
|
rs760314787
|
|
|
NM_000302.4(PLOD1):c.1878G>A (p.Lys626=)
|
|
|
|
NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)
|
|
|
|
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala)
|
rs920188548
|
|
|
NM_000302.4(PLOD1):c.1887C>G (p.Pro629=)
|
|
|
|
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp)
|
rs1645857603
|
|
|
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys)
|
rs752084194
|
|
|
NM_000302.4(PLOD1):c.1896C>T (p.Tyr632=)
|
|
|
|
NM_000302.4(PLOD1):c.189C>T (p.Asp63=)
|
rs1259023201
|
|
|
NM_000302.4(PLOD1):c.1902+3G>A
|
rs1645857795
|
|
|
NM_000302.4(PLOD1):c.1903-12G>C
|
|
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
|
NM_000302.4(PLOD1):c.1903-15C>T
|
|
|
|
NM_000302.4(PLOD1):c.1903-17C>T
|
|
|
|
NM_000302.4(PLOD1):c.1903-18C>A
|
rs750758605
|
|
|
NM_000302.4(PLOD1):c.1903-18C>T
|
rs750758605
|
|
|
NM_000302.4(PLOD1):c.1903-20del
|
|
|
|
NM_000302.4(PLOD1):c.1903-2A>G
|
rs1553137486
|
|
|
NM_000302.4(PLOD1):c.1903-2A>T
|
|
|
|
NM_000302.4(PLOD1):c.1905C>G (p.Ala635=)
|
|
|
|
NM_000302.4(PLOD1):c.1905C>T (p.Ala635=)
|
|
|
|
NM_000302.4(PLOD1):c.1908G>A (p.Gln636=)
|
|
|
|
NM_000302.4(PLOD1):c.1911T>C (p.Phe637=)
|
|
|
|
NM_000302.4(PLOD1):c.1929C>T (p.Val643=)
|
rs752137195
|
|
|
NM_000302.4(PLOD1):c.1930del (p.Arg644fs)
|
rs1557501741
|
|
|
NM_000302.4(PLOD1):c.1947G>A (p.Glu649=)
|
|
|
|
NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)
|
|
|
|
NM_000302.4(PLOD1):c.1968C>T (p.His656=)
|
|
|
|
NM_000302.4(PLOD1):c.1971T>C (p.His657=)
|
|
|
|
NM_000302.4(PLOD1):c.1977C>T (p.Ala659=)
|
|
|
|
NM_000302.4(PLOD1):c.1986C>T (p.Phe662=)
|
|
|
|
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
|
|
|
|
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr)
|
|
|
|
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter)
|
rs1434924385
|
|
|
NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=)
|
|
|
|
NM_000302.4(PLOD1):c.2028+12C>A
|
|
|
|
NM_000302.4(PLOD1):c.2028+12C>G
|
|
|
|
NM_000302.4(PLOD1):c.2028+16C>G
|
|
|
|
NM_000302.4(PLOD1):c.2028+17C>G
|
|
|
|
NM_000302.4(PLOD1):c.2028+18G>A
|
|
|
|
NM_000302.4(PLOD1):c.2028+7A>C
|
|
|
|
NM_000302.4(PLOD1):c.2029-20T>C
|
|
|
|
NM_000302.4(PLOD1):c.2029-20T>G
|
|
|
|
NM_000302.4(PLOD1):c.2029-3del
|
rs1273287120
|
|
|
NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)
|
|
|
|
NM_000302.4(PLOD1):c.2034G>A (p.Gly678=)
|
|
|
|
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp)
|
rs1281801241
|
|
|
NM_000302.4(PLOD1):c.2043G>T (p.Arg681=)
|
rs2100768727
|
|
|
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
|
|
|
|
NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=)
|
|
|
|
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys)
|
rs1010336383
|
|
|
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser)
|
rs2100768765
|
|
|
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val)
|
rs1553137685
|
|
|
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln)
|
rs886045208
|
|
|
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn)
|
rs1645891475
|
|
|
NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)
|
|
|
|
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
|
|
|
|
NM_000302.4(PLOD1):c.2115G>A (p.Thr705=)
|
|
|
|
NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)
|
|
|
|
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His)
|
rs1645892067
|
|
|
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu)
|
rs2100743367
|
|
|
NM_000302.4(PLOD1):c.2130G>A (p.Gly710=)
|
|
|
|
NM_000302.4(PLOD1):c.2136C>A (p.Pro712=)
|
|
|
|
NM_000302.4(PLOD1):c.2136C>T (p.Pro712=)
|
|
|
|
NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)
|
|
|
|
NM_000302.4(PLOD1):c.213G>A (p.Ser71=)
|
|
|
|
NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)
|
|
|
|
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val)
|
rs2100743381
|
|
|
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
|
|
|
|
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser)
|
rs781689639
|
|
|
NM_000302.4(PLOD1):c.2163A>C (p.Ala721=)
|
|
|
|
NM_000302.4(PLOD1):c.2164del (p.Val722fs)
|
rs1645892679
|
|
|
NM_000302.4(PLOD1):c.2169C>T (p.Ser723=)
|
|
|
|
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del)
|
rs1310692062
|
|
|
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile)
|
rs151247380
|
|
|
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu)
|
rs151247380
|
|
|
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
|
|
|
|
NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)
|
|
|
|
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val)
|
rs1034357016
|
|
|
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
|
|
|
|
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe)
|
rs1306060482
|
|
|
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp)
|
rs886045200
|
|
|
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val)
|
rs1348207190
|
|
|
NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro)
|
|
|
|
NM_000302.4(PLOD1):c.25C>T (p.Leu9=)
|
|
|
|
NM_000302.4(PLOD1):c.262C>G (p.His88Asp)
|
rs1645686634
|
|
|
NM_000302.4(PLOD1):c.264C>T (p.His88=)
|
|
|
|
NM_000302.4(PLOD1):c.272del (p.Lys91fs)
|
rs2100743480
|
|
|
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
|
|
|
|
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
|
|
|
|
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)
|
rs763494719
|
|
|
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
|
|
|
|
NM_000302.4(PLOD1):c.297A>G (p.Ala99=)
|
rs2100743542
|
|
|
NM_000302.4(PLOD1):c.302+3_302+6del
|
rs2100743549
|
|
|
NM_000302.4(PLOD1):c.302+5G>C
|
rs749607584
|
|
|
NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA
|
|
|
|
NM_000302.4(PLOD1):c.303-13G>C
|
|
|
|
NM_000302.4(PLOD1):c.303-14T>C
|
|
|
|
NM_000302.4(PLOD1):c.303-17C>T
|
|
|
|
NM_000302.4(PLOD1):c.303-18T>G
|
rs2100743986
|
|
|
NM_000302.4(PLOD1):c.303-18_303-17del
|
rs2100743981
|
|
|
NM_000302.4(PLOD1):c.303-20T>G
|
|
|
|
NM_000302.4(PLOD1):c.303-5C>T
|
rs1645690340
|
|
|
NM_000302.4(PLOD1):c.303-6C>T
|
rs2100744004
|
|
|
NM_000302.4(PLOD1):c.30G>A (p.Leu10=)
|
rs886039113
|
|
|
NM_000302.4(PLOD1):c.312G>C (p.Val104=)
|
|
|
|
NM_000302.4(PLOD1):c.313C>T (p.Leu105=)
|
rs1557487050
|
|
|
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln)
|
rs1553133902
|
|
|
NM_000302.4(PLOD1):c.315G>A (p.Leu105=)
|
|
|
|
NM_000302.4(PLOD1):c.315_317del (p.Phe106del)
|
rs770511543
|
|
|
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)
|
rs549517196
|
|
|
NM_000302.4(PLOD1):c.327del (p.Arg111fs)
|
rs886042976
|
|
|
NM_000302.4(PLOD1):c.331C>A (p.Arg111=)
|
rs772221158
|
|
|
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
|
|
|
|
NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)
|
|
|
|
NM_000302.4(PLOD1):c.33C>T (p.Gly11=)
|
rs2100729686
|
|
|
NM_000302.4(PLOD1):c.340C>T (p.Leu114=)
|
|
|
|
NM_000302.4(PLOD1):c.345G>A (p.Lys115=)
|
|
|
|
NM_000302.4(PLOD1):c.351C>T (p.Phe117=)
|
|
|
|
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys)
|
rs1645691095
|
|
|
NM_000302.4(PLOD1):c.360C>G (p.Ala120=)
|
|
|
|
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
|
|
|
|
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter)
|
rs1645691337
|
|
|
NM_000302.4(PLOD1):c.369G>C (p.Gln123His)
|
rs1645691361
|
|
|
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile)
|
rs984869224
|
|
|
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu)
|
rs144702307
|
|
|
NM_000302.4(PLOD1):c.384T>G (p.Ala128=)
|
|
|
|
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
|
|
|
|
NM_000302.4(PLOD1):c.396C>T (p.Ile132=)
|
rs999062403
|
|
|
NM_000302.4(PLOD1):c.402del (p.Asp135fs)
|
rs886043926
|
|
|
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs)
|
rs745409628
|
|
|
NM_000302.4(PLOD1):c.417G>A (p.Glu139=)
|
|
|
|
NM_000302.4(PLOD1):c.423G>A (p.Lys141=)
|
|
|
|
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
|
|
|
|
NM_000302.4(PLOD1):c.429G>A (p.Pro143=)
|
|
|
|
NM_000302.4(PLOD1):c.429G>T (p.Pro143=)
|
|
|
|
NM_000302.4(PLOD1):c.466+10C>G
|
|
|
|
NM_000302.4(PLOD1):c.466+13G>T
|
|
|
|
NM_000302.4(PLOD1):c.466+20G>A
|
|
|
|
NM_000302.4(PLOD1):c.466+65C>A
|
|
|
|
NM_000302.4(PLOD1):c.466+7G>A
|
|
|
|
NM_000302.4(PLOD1):c.467-12A>G
|
|
|
|
NM_000302.4(PLOD1):c.467-13_467-6del
|
|
|
|
NM_000302.4(PLOD1):c.467-14C>T
|
|
|
|
NM_000302.4(PLOD1):c.467-19C>T
|
|
|
|
NM_000302.4(PLOD1):c.467-20C>T
|
rs1645710680
|
|
|
NM_000302.4(PLOD1):c.467-2A>G
|
|
|
|
NM_000302.4(PLOD1):c.467-6C>A
|
|
|
|
NM_000302.4(PLOD1):c.467-8A>C
|
|
|
|
NM_000302.4(PLOD1):c.474C>A (p.Ile158=)
|
|
|
|
NM_000302.4(PLOD1):c.474C>T (p.Ile158=)
|
|
|
|
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
|
|
|
|
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
|
|
|
|
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr)
|
rs1553134244
|
|
|
NM_000302.4(PLOD1):c.486C>A (p.Pro162=)
|
|
|
|
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
|
|
|
|
NM_000302.4(PLOD1):c.48C>T (p.Ala16=)
|
|
|
|
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)
|
rs1402614845
|
|
|
NM_000302.4(PLOD1):c.507C>T (p.Ala169=)
|
|
|
|
NM_000302.4(PLOD1):c.510G>A (p.Glu170=)
|
|
|
|
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
|
|
|
|
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly)
|
rs1569694008
|
|
|
NM_000302.4(PLOD1):c.528C>T (p.Ser176=)
|
|
|
|
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg)
|
rs113384442
|
|
|
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn)
|
rs188165334
|
|
|
NM_000302.4(PLOD1):c.535G>C (p.Asp179His)
|
rs188165334
|
|
|
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr)
|
rs188165334
|
|
|
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
|
|
|
|
NM_000302.4(PLOD1):c.541C>T (p.Leu181=)
|
|
|
|
NM_000302.4(PLOD1):c.543G>C (p.Leu181=)
|
|
|
|
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg)
|
rs2100746537
|
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
|
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val)
|
rs886045201
|
|
|
NM_000302.4(PLOD1):c.558C>T (p.Ile186=)
|
|
|
|
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp)
|
rs1645711960
|
|
|
NM_000302.4(PLOD1):c.567C>T (p.Asp189=)
|
|
|
|
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del)
|
rs775053632
|
|
|
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg)
|
rs375416784
|
|
|
NM_000302.4(PLOD1):c.576G>A (p.Lys192=)
|
rs1645712079
|
|
|
NM_000302.4(PLOD1):c.577A>C (p.Arg193=)
|
rs569590633
|
|
|
NM_000302.4(PLOD1):c.579+12T>C
|
|
|
|
NM_000302.4(PLOD1):c.579+1G>A
|
rs797044448
|
|
|
NM_000302.4(PLOD1):c.579+3A>C
|
rs1645712158
|
|
|
NM_000302.4(PLOD1):c.579+8G>A
|
|
|
|
NM_000302.4(PLOD1):c.579+8G>T
|
|
|
|
NM_000302.4(PLOD1):c.579G>A (p.Arg193=)
|
rs1553134266
|
|
|
NM_000302.4(PLOD1):c.580-10T>C
|
rs1645726829
|
|
|
NM_000302.4(PLOD1):c.580-11C>G
|
|
|
|
NM_000302.4(PLOD1):c.580-12T>A
|
|
|
|
NM_000302.4(PLOD1):c.580-13T>G
|
|
|
|
NM_000302.4(PLOD1):c.580-16A>G
|
|
|
|
NM_000302.4(PLOD1):c.580-19G>A
|
|
|
|
NM_000302.4(PLOD1):c.580-20T>G
|
|
|
|
NM_000302.4(PLOD1):c.580-2A>G
|
|
|
|
NM_000302.4(PLOD1):c.580-4G>T
|
|
|
|
NM_000302.4(PLOD1):c.580-7C>T
|
|
|
|
NM_000302.4(PLOD1):c.582G>A (p.Glu194=)
|
|
|
|
NM_000302.4(PLOD1):c.598C>T (p.Leu200=)
|
|
|
|
NM_000302.4(PLOD1):c.603C>T (p.Asp201=)
|
|
|
|
NM_000302.4(PLOD1):c.609C>G (p.Arg203=)
|
|
|
|
NM_000302.4(PLOD1):c.60C>T (p.Gly20=)
|
|
|
|
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
|
|
|
|
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)
|
rs199990859
|
|
|
NM_000302.4(PLOD1):c.618C>A (p.Ile206=)
|
|
|
|
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter)
|
rs1557490038
|
|
|
NM_000302.4(PLOD1):c.624G>A (p.Gln208=)
|
|
|
|
NM_000302.4(PLOD1):c.627C>T (p.Asn209=)
|
rs2100748753
|
|
|
NM_000302.4(PLOD1):c.628C>T (p.Leu210=)
|
|
|
|
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
|
|
|
|
NM_000302.4(PLOD1):c.639C>T (p.Ala213=)
|
|
|
|
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)
|
rs1645566854
|
|
|
NM_000302.4(PLOD1):c.643+10C>T
|
|
|
|
NM_000302.4(PLOD1):c.643+12C>T
|
|
|
|
NM_000302.4(PLOD1):c.643+13C>G
|
|
|
|
NM_000302.4(PLOD1):c.643+16G>C
|
|
|
|
NM_000302.4(PLOD1):c.643+19G>A
|
|
|
|
NM_000302.4(PLOD1):c.643+20A>T
|
|
|
|
NM_000302.4(PLOD1):c.644-15C>T
|
|
|
|
NM_000302.4(PLOD1):c.644-17_644-16del
|
rs755109500
|
|
|
NM_000302.4(PLOD1):c.644-18G>A
|
|
|
|
NM_000302.4(PLOD1):c.644-19T>C
|
|
|
|
NM_000302.4(PLOD1):c.644-2A>G
|
|
|
|
NM_000302.4(PLOD1):c.648G>A (p.Glu216=)
|
rs150852515
|
|
|
NM_000302.4(PLOD1):c.651C>G (p.Val217=)
|
|
|
|
NM_000302.4(PLOD1):c.652G>A (p.Val218Met)
|
rs372534520
|
|
|
NM_000302.4(PLOD1):c.654G>A (p.Val218=)
|
|
|
|
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro)
|
rs1392799816
|
|
|
NM_000302.4(PLOD1):c.674A>G (p.His225Arg)
|
rs1176136454
|
|
|
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
|
rs566018612
|
|
|
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn)
|
rs1645742510
|
|
|
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
|
|
|
|
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
|
|
|
|
NM_000302.4(PLOD1):c.711G>A (p.Pro237=)
|
|
|
|
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu)
|
rs1438879558
|
|
|
NM_000302.4(PLOD1):c.720C>T (p.Ile240=)
|
rs770749842
|
|
|
NM_000302.4(PLOD1):c.723T>C (p.His241=)
|
rs2100750549
|
|
|
NM_000302.4(PLOD1):c.723T>G (p.His241Gln)
|
rs2100750549
|
|
|
NM_000302.4(PLOD1):c.726C>T (p.Gly242=)
|
|
|
|
NM_000302.4(PLOD1):c.729C>T (p.Asn243=)
|
|
|
|
NM_000302.4(PLOD1):c.72G>A (p.Pro24=)
|
rs1645566983
|
|
|
NM_000302.4(PLOD1):c.72G>T (p.Pro24=)
|
|
|
|
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
|
|
|
|
NM_000302.4(PLOD1):c.741+11C>T
|
|
|
|
NM_000302.4(PLOD1):c.741+12C>T
|
|
|
|
NM_000302.4(PLOD1):c.741+13C>G
|
|
|
|
NM_000302.4(PLOD1):c.741+13C>T
|
rs2100750594
|
|
|
NM_000302.4(PLOD1):c.741+16C>T
|
|
|
|
NM_000302.4(PLOD1):c.741+19C>G
|
|
|
|
NM_000302.4(PLOD1):c.741+8G>T
|
|
|
|
NM_000302.4(PLOD1):c.742-13G>A
|
|
|
|
NM_000302.4(PLOD1):c.742-14C>A
|
|
|
|
NM_000302.4(PLOD1):c.742-14C>T
|
|
|
|
NM_000302.4(PLOD1):c.742-9C>A
|
|
|
|
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
|
|
|
|
NM_000302.4(PLOD1):c.744G>A (p.Leu248=)
|
|
|
|
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala)
|
rs774044489
|
|
|
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
|
|
|
|
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val)
|
rs2100751390
|
|
|
NM_000302.4(PLOD1):c.759G>A (p.Leu253=)
|
|
|
|
NM_000302.4(PLOD1):c.759G>C (p.Leu253=)
|
rs762271097
|
|
|
NM_000302.4(PLOD1):c.76+10C>T
|
rs2100729726
|
|
|
NM_000302.4(PLOD1):c.76+11G>A
|
|
|
|
NM_000302.4(PLOD1):c.76+13A>C
|
|
|
|
NM_000302.4(PLOD1):c.76+14G>A
|
|
|
|
NM_000302.4(PLOD1):c.76+15G>T
|
|
|
|
NM_000302.4(PLOD1):c.76+19G>A
|
|
|
|
NM_000302.4(PLOD1):c.76+20G>A
|
|
|
|
NM_000302.4(PLOD1):c.76+22del
|
|
|
|
NM_000302.4(PLOD1):c.77-13C>A
|
|
|
|
NM_000302.4(PLOD1):c.77-13C>T
|
|
|
|
NM_000302.4(PLOD1):c.77-16C>T
|
|
|
|
NM_000302.4(PLOD1):c.77-17C>A
|
|
|
|
NM_000302.4(PLOD1):c.77-17C>T
|
rs748925361
|
|
|
NM_000302.4(PLOD1):c.77-18A>G
|
|
|
|
NM_000302.4(PLOD1):c.77-19T>C
|
|
|
|
NM_000302.4(PLOD1):c.77-20A>C
|
|
|
|
NM_000302.4(PLOD1):c.77-20A>G
|
|
|
|
NM_000302.4(PLOD1):c.77-3320G>C
|
rs2100738654
|
|
|
NM_000302.4(PLOD1):c.77-3339C>T
|
|
|
|
NM_000302.4(PLOD1):c.77-3351T>C
|
rs1397591568
|
|
|
NM_000302.4(PLOD1):c.77-3403T>C
|
rs1645637106
|
|
|
NM_000302.4(PLOD1):c.77-6C>G
|
|
|
|
NM_000302.4(PLOD1):c.771C>T (p.Ile257=)
|
|
|
|
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)
|
rs1181531160
|
|
|
NM_000302.4(PLOD1):c.777C>T (p.Arg259=)
|
rs1473839953
|
|
|
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn)
|
rs2100751465
|
|
|
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser)
|
rs2100741705
|
|
|
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys)
|
rs1267512667
|
|
|
NM_000302.4(PLOD1):c.825C>T (p.Arg275=)
|
|
|
|
NM_000302.4(PLOD1):c.828C>T (p.Ser276=)
|
|
|
|
NM_000302.4(PLOD1):c.843+11G>A
|
|
|
|
NM_000302.4(PLOD1):c.843+14C>T
|
|
|
|
NM_000302.4(PLOD1):c.843+15A>G
|
|
|
|
NM_000302.4(PLOD1):c.844-10C>T
|
rs2100752088
|
|
|
NM_000302.4(PLOD1):c.844-12T>C
|
|
|
|
NM_000302.4(PLOD1):c.844-13C>T
|
|
|
|
NM_000302.4(PLOD1):c.844-14C>T
|
|
|
|
NM_000302.4(PLOD1):c.844-15C>T
|
|
|
|
NM_000302.4(PLOD1):c.844-16G>T
|
|
|
|
NM_000302.4(PLOD1):c.844-17C>T
|
|
|
|
NM_000302.4(PLOD1):c.844-3C>G
|
rs2100752095
|
|
|
NM_000302.4(PLOD1):c.844-6G>C
|
|
|
|
NM_000302.4(PLOD1):c.844-9C>T
|
|
|
|
NM_000302.4(PLOD1):c.855G>A (p.Leu285=)
|
|
|
|
NM_000302.4(PLOD1):c.858C>T (p.Pro286=)
|
|
|
|
NM_000302.4(PLOD1):c.861G>T (p.Thr287=)
|
|
|
|
NM_000302.4(PLOD1):c.864C>T (p.Val288=)
|
|
|
|
NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)
|
|
|
|
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp)
|
rs1394486748
|
|
|
NM_000302.4(PLOD1):c.873C>A (p.Gly291=)
|
|
|
|
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu)
|
rs143114026
|
|
|
NM_000302.4(PLOD1):c.876G>A (p.Val292=)
|
|
|
|
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala)
|
rs777178486
|
|
|
NM_000302.4(PLOD1):c.907C>T (p.Leu303=)
|
|
|
|
NM_000302.4(PLOD1):c.90C>T (p.Val30=)
|
|
|
|
NM_000302.4(PLOD1):c.921G>A (p.Arg307=)
|
rs754534604
|
|
|
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe)
|
rs1438781151
|
|
|
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu)
|
rs1645756307
|
|
|
NM_000302.4(PLOD1):c.942C>G (p.Pro314=)
|
|
|
|
NM_000302.4(PLOD1):c.949C>A (p.His317Asn)
|
rs1287367993
|
|
|
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
|
|
|
|
NM_000302.4(PLOD1):c.951C>G (p.His317Gln)
|
rs770032875
|
|
|
NM_000302.4(PLOD1):c.955C>A (p.Arg319=)
|
|
|
|
NM_000302.4(PLOD1):c.963C>T (p.Phe321=)
|
rs2100752293
|
|
|
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn)
|
rs1553135172
|
|
|
NM_000302.4(PLOD1):c.96G>A (p.Thr32=)
|
|
|
|
NM_000302.4(PLOD1):c.975+2_975+3insTT
|
|
|
|
NM_000302.4(PLOD1):c.976-14A>G
|
|
|
|
NM_000302.4(PLOD1):c.976-15C>A
|
|
|
|
NM_000302.4(PLOD1):c.976-17C>T
|
|
|
|
NM_000302.4(PLOD1):c.976-18C>T
|
|
|
|
NM_000302.4(PLOD1):c.976-2A>G
|
|
|
|
NM_000302.4(PLOD1):c.976-2A>T
|
rs1375808651
|
|
|
NM_000302.4(PLOD1):c.976-3C>T
|
rs1198690797
|
|
|
NM_000302.4(PLOD1):c.976-6C>A
|
rs200825919
|
|
|
NM_000302.4(PLOD1):c.976-7_976-2dup
|
|
|
|
NM_000302.4(PLOD1):c.979dup (p.Gln327fs)
|
rs2100754171
|
|
|
NM_000302.4(PLOD1):c.999G>A (p.Val333=)
|
|
|
|
NM_000302.4(PLOD1):c.9C>T (p.Pro3=)
|
|
|
|
NM_000393.5(COL5A2):c.*1331C>G
|
rs146947961
|
|
|
NM_000393.5(COL5A2):c.*1465G>T
|
rs886055348
|
|
|
NM_000393.5(COL5A2):c.*1668C>G
|
rs772852972
|
|
|
NM_000393.5(COL5A2):c.*1764G>T
|
rs554165132
|
|
|
NM_000393.5(COL5A2):c.*1894C>A
|
rs886055347
|
|
|
NM_000393.5(COL5A2):c.*589_*590del
|
rs200554257
|
|
|
NM_000393.5(COL5A2):c.*590dup
|
rs200554257
|
|
|
NM_000393.5(COL5A2):c.*694TA[1]
|
rs886055351
|
|
|
NM_000393.5(COL5A2):c.*716A>G
|
rs886055350
|
|
|
NM_000393.5(COL5A2):c.1005+5G>T
|
rs752557532
|
|
|
NM_000393.5(COL5A2):c.1005+7G>A
|
rs1402008959
|
|
|
NM_000393.5(COL5A2):c.1006-11A>G
|
|
|
|
NM_000393.5(COL5A2):c.1006-19del
|
|
|
|
NM_000393.5(COL5A2):c.1006-20T>C
|
|
|
|
NM_000393.5(COL5A2):c.1006-9C>G
|
rs73978832
|
|
|
NM_000393.5(COL5A2):c.1010C>A (p.Pro337Gln)
|
rs766349082
|
|
|
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
|
|
|
|
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)
|
rs538602187
|
|
|
NM_000393.5(COL5A2):c.1035G>A (p.Gly345=)
|
|
|
|
NM_000393.5(COL5A2):c.1045C>T (p.Pro349Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1059+11_1059+12del
|
|
|
|
NM_000393.5(COL5A2):c.1059+6T>C
|
|
|
|
NM_000393.5(COL5A2):c.1059+8T>G
|
|
|
|
NM_000393.5(COL5A2):c.1060-7T>C
|
rs754055737
|
|
|
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His)
|
|
|
|
NM_000393.5(COL5A2):c.1066C>T (p.Arg356Ter)
|
|
|
|
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)
|
|
|
|
NM_000393.5(COL5A2):c.1074A>C (p.Ala358=)
|
|
|
|
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val)
|
rs76148000
|
|
|
NM_000393.5(COL5A2):c.10A>G (p.Asn4Asp)
|
|
|
|
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu)
|
rs776312058
|
|
|
NM_000393.5(COL5A2):c.1105-11T>G
|
rs1057523251
|
|
|
NM_000393.5(COL5A2):c.1105-13T>A
|
|
|
|
NM_000393.5(COL5A2):c.1105G>A (p.Gly369Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala)
|
|
|
|
NM_000393.5(COL5A2):c.1119A>G (p.Ile373Met)
|
|
|
|
NM_000393.5(COL5A2):c.1122A>G (p.Pro374=)
|
|
|
|
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp)
|
rs886042913
|
|
|
NM_000393.5(COL5A2):c.1126T>C (p.Ser376Pro)
|
|
|
|
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu)
|
rs1576507871
|
|
|
NM_000393.5(COL5A2):c.1158+20A>G
|
|
|
|
NM_000393.5(COL5A2):c.1158+3A>G
|
|
|
|
NM_000393.5(COL5A2):c.1158G>A (p.Lys386=)
|
rs2105613322
|
|
|
NM_000393.5(COL5A2):c.1159-11C>T
|
|
|
|
NM_000393.5(COL5A2):c.1159-12G>C
|
|
|
|
NM_000393.5(COL5A2):c.1159-16C>T
|
|
|
|
NM_000393.5(COL5A2):c.1159-18C>T
|
|
|
|
NM_000393.5(COL5A2):c.1159-1G>A
|
|
|
|
NM_000393.5(COL5A2):c.1159-60_2031+62dup
|
|
|
|
NM_000393.5(COL5A2):c.1159-8C>T
|
rs1273116792
|
|
|
NM_000393.5(COL5A2):c.1165G>T (p.Ala389Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1171C>T (p.Pro391Ser)
|
rs2105605678
|
|
|
NM_000393.5(COL5A2):c.1171_1172delinsGT (p.Pro391Val)
|
|
|
|
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile)
|
rs1553515880
|
|
|
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=)
|
rs1553515878
|
|
|
NM_000393.5(COL5A2):c.117A>T (p.Ile39=)
|
rs1060504379
|
|
|
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
|
rs1686209873
|
|
|
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr)
|
rs1559108874
|
|
|
NM_000393.5(COL5A2):c.1190C>T (p.Pro397Leu)
|
rs1189039397
|
|
|
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala)
|
|
|
|
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val)
|
rs758092388
|
|
|
NM_000393.5(COL5A2):c.1203G>A (p.Gln401=)
|
|
|
|
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu)
|
|
|
|
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly)
|
rs1686209467
|
|
|
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
|
|
|
|
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val)
|
|
|
|
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser)
|
rs1042644306
|
|
|
NM_000393.5(COL5A2):c.1229C>T (p.Pro410Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala)
|
rs1430271322
|
|
|
NM_000393.5(COL5A2):c.1244C>G (p.Ser415Cys)
|
|
|
|
NM_000393.5(COL5A2):c.1244C>T (p.Ser415Phe)
|
|
|
|
NM_000393.5(COL5A2):c.1246C>T (p.Pro416Ser)
|
rs1412825331
|
|
|
NM_000393.5(COL5A2):c.1255C>T (p.Pro419Ser)
|
rs1245178744
|
|
|
NM_000393.5(COL5A2):c.1257+11A>G
|
|
|
|
NM_000393.5(COL5A2):c.1257+12G>A
|
rs759316090
|
|
|
NM_000393.5(COL5A2):c.1257+13C>A
|
|
|
|
NM_000393.5(COL5A2):c.1261G>T (p.Ala421Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
|
|
|
|
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys)
|
rs145850743
|
|
|
NM_000393.5(COL5A2):c.1302+17T>C
|
|
|
|
NM_000393.5(COL5A2):c.1302+20C>T
|
|
|
|
NM_000393.5(COL5A2):c.1303-8T>C
|
|
|
|
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
|
|
|
|
NM_000393.5(COL5A2):c.1308T>C (p.Ser436=)
|
|
|
|
NM_000393.5(COL5A2):c.1310_1311inv (p.Pro437Leu)
|
|
|
|
NM_000393.5(COL5A2):c.131A>C (p.Asn44Thr)
|
|
|
|
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser)
|
rs1008978987
|
|
|
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del)
|
rs1686191596
|
|
|
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=)
|
rs886055357
|
|
|
NM_000393.5(COL5A2):c.1350A>T (p.Gly450=)
|
|
|
|
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro)
|
rs548441536
|
|
|
NM_000393.5(COL5A2):c.1360C>T (p.Pro454Ser)
|
rs1686191057
|
|
|
NM_000393.5(COL5A2):c.1361C>T (p.Pro454Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly)
|
rs1686190878
|
|
|
NM_000393.5(COL5A2):c.136C>G (p.Gln46Glu)
|
|
|
|
NM_000393.5(COL5A2):c.1372A>T (p.Thr458Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1379C>T (p.Pro460Leu)
|
rs2105603424
|
|
|
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)
|
rs1553515794
|
|
|
NM_000393.5(COL5A2):c.1402-10T>A
|
|
|
|
NM_000393.5(COL5A2):c.1402-13A>G
|
|
|
|
NM_000393.5(COL5A2):c.1402-17C>T
|
|
|
|
NM_000393.5(COL5A2):c.1402-2A>G
|
|
|
|
NM_000393.5(COL5A2):c.1402-3C>T
|
|
|
|
NM_000393.5(COL5A2):c.1402-5T>C
|
|
|
|
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=)
|
rs1686161677
|
|
|
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly)
|
rs1553515681
|
|
|
NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile)
|
|
|
|
NM_000393.5(COL5A2):c.1442C>T (p.Pro481Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1443A>C (p.Pro481=)
|
rs1686160458
|
|
|
NM_000393.5(COL5A2):c.1451A>C (p.Glu484Ala)
|
|
|
|
NM_000393.5(COL5A2):c.1453C>A (p.Pro485Thr)
|
|
|
|
NM_000393.5(COL5A2):c.1453C>G (p.Pro485Ala)
|
|
|
|
NM_000393.5(COL5A2):c.1455+20A>T
|
rs2105600190
|
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
|
NM_000393.5(COL5A2):c.1455+6del
|
rs763475800
|
|
|
NM_000393.5(COL5A2):c.1456-11G>A
|
|
|
|
NM_000393.5(COL5A2):c.1456-16C>T
|
|
|
|
NM_000393.5(COL5A2):c.1456-17C>A
|
|
|
|
NM_000393.5(COL5A2):c.1456-3C>G
|
|
|
|
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg)
|
|
|
|
NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)
|
|
|
|
NM_000393.5(COL5A2):c.1459C>T (p.Pro487Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro)
|
rs149305351
|
|
|
NM_000393.5(COL5A2):c.1464T>C (p.His488=)
|
|
|
|
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp)
|
|
|
|
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
|
|
|
|
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln)
|
|
|
|
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=)
|
rs570269920
|
|
|
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
|
rs570269920
|
|
|
NM_000393.5(COL5A2):c.1494T>C (p.Gly498=)
|
|
|
|
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
|
|
|
|
NM_000393.5(COL5A2):c.1514C>T (p.Pro505Leu)
|
rs1234716349
|
|
|
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
|
|
|
|
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
|
|
|
|
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu)
|
|
|
|
NM_000393.5(COL5A2):c.1532C>G (p.Thr511Arg)
|
|
|
|
NM_000393.5(COL5A2):c.1541C>T (p.Pro514Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu)
|
rs371125581
|
|
|
NM_000393.5(COL5A2):c.1561A>G (p.Arg521Gly)
|
|
|
|
NM_000393.5(COL5A2):c.1563+11A>G
|
|
|
|
NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)
|
|
|
|
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
|
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His)
|
rs1260469713
|
|
|
NM_000393.5(COL5A2):c.1583G>A (p.Gly528Asp)
|
rs2105595796
|
|
|
NM_000393.5(COL5A2):c.1596T>G (p.Ser532=)
|
|
|
|
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg)
|
rs1576503605
|
|
|
NM_000393.5(COL5A2):c.1617+12del
|
|
|
|
NM_000393.5(COL5A2):c.1617+17A>G
|
|
|
|
NM_000393.5(COL5A2):c.1617+4A>G
|
rs1553515517
|
|
|
NM_000393.5(COL5A2):c.1617+8T>G
|
|
|
|
NM_000393.5(COL5A2):c.1617+9G>A
|
|
|
|
NM_000393.5(COL5A2):c.1617G>T (p.Lys539Asn)
|
|
|
|
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr)
|
|
|
|
NM_000393.5(COL5A2):c.1625A>T (p.Gln542Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1626A>G (p.Gln542=)
|
rs745880832
|
|
|
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys)
|
rs863223500
|
|
|
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg)
|
rs778171609
|
|
|
NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)
|
|
|
|
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His)
|
rs149203102
|
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
|
NM_000393.5(COL5A2):c.1674G>T (p.Gly558=)
|
|
|
|
NM_000393.5(COL5A2):c.1677T>A (p.Asp559Glu)
|
|
|
|
NM_000393.5(COL5A2):c.1680A>C (p.Pro560=)
|
|
|
|
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly)
|
|
|
|
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)
|
rs730880066
|
|
|
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
|
|
|
|
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser)
|
rs372910621
|
|
|
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=)
|
rs1576503230
|
|
|
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro)
|
rs760408439
|
|
|
NM_000393.5(COL5A2):c.1716+13C>T
|
|
|
|
NM_000393.5(COL5A2):c.1717-10T>G
|
|
|
|
NM_000393.5(COL5A2):c.1717-15G>T
|
|
|
|
NM_000393.5(COL5A2):c.1717-9dup
|
|
|
|
NM_000393.5(COL5A2):c.1718G>T (p.Gly573Val)
|
|
|
|
NM_000393.5(COL5A2):c.173C>A (p.Pro58His)
|
rs766925699
|
|
|
NM_000393.5(COL5A2):c.1753G>A (p.Gly585Arg)
|
rs1686090076
|
|
|
NM_000393.5(COL5A2):c.1770+12A>T
|
rs915090349
|
|
|
NM_000393.5(COL5A2):c.1770+14A>G
|
|
|
|
NM_000393.5(COL5A2):c.1770+4A>G
|
|
|
|
NM_000393.5(COL5A2):c.1770+6T>C
|
rs1686089547
|
|
|
NM_000393.5(COL5A2):c.1770G>A (p.Leu590=)
|
|
|
|
NM_000393.5(COL5A2):c.1771-7T>A
|
|
|
|
NM_000393.5(COL5A2):c.1771-7_1771-6insTA
|
rs777484785
|
|
|
NM_000393.5(COL5A2):c.1773T>A (p.Gly591=)
|
rs2105591117
|
|
|
NM_000393.5(COL5A2):c.1775C>G (p.Ala592Gly)
|
|
|
|
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)
|
rs145169816
|
|
|
NM_000393.5(COL5A2):c.1787A>T (p.Asp596Val)
|
rs768939237
|
|
|
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys)
|
rs1060501906
|
|
|
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1798_1800dup (p.Gly600_Pro601insGly)
|
|
|
|
NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val)
|
rs2105590990
|
|
|
NM_000393.5(COL5A2):c.17C>A (p.Ala6Glu)
|
|
|
|
NM_000393.5(COL5A2):c.1801C>A (p.Pro601Thr)
|
|
|
|
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
|
|
|
|
NM_000393.5(COL5A2):c.1809C>A (p.Gly603=)
|
|
|
|
NM_000393.5(COL5A2):c.180G>A (p.Gln60=)
|
rs759303686
|
|
|
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=)
|
rs1576502365
|
|
|
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val)
|
rs2105590952
|
|
|
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
|
|
|
|
NM_000393.5(COL5A2):c.181A>G (p.Ile61Val)
|
|
|
|
NM_000393.5(COL5A2):c.182TCTGTG[1] (p.Val63_Cys64del)
|
rs1687236750
|
|
|
NM_000393.5(COL5A2):c.1830G>A (p.Gln610=)
|
|
|
|
NM_000393.5(COL5A2):c.1830G>T (p.Gln610His)
|
|
|
|
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala)
|
rs1438423994
|
|
|
NM_000393.5(COL5A2):c.1832C>T (p.Pro611Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)
|
|
|
|
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)
|
|
|
|
NM_000393.5(COL5A2):c.1854C>A (p.Gly618=)
|
|
|
|
NM_000393.5(COL5A2):c.1865G>A (p.Ser622Asn)
|
|
|
|
NM_000393.5(COL5A2):c.1868G>A (p.Ser623Asn)
|
rs2105590768
|
|
|
NM_000393.5(COL5A2):c.1869+12G>A
|
|
|
|
NM_000393.5(COL5A2):c.1869+14A>G
|
|
|
|
NM_000393.5(COL5A2):c.1869+16A>G
|
|
|
|
NM_000393.5(COL5A2):c.1869+3G>A
|
|
|
|
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu)
|
|
|
|
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
|
|
|
|
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr)
|
|
|
|
NM_000393.5(COL5A2):c.1907G>C (p.Gly636Ala)
|
|
|
|
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1923+3dup
|
rs1553515318
|
|
|
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser)
|
|
|
|
NM_000393.5(COL5A2):c.1924-11T>C
|
|
|
|
NM_000393.5(COL5A2):c.1924-17T>C
|
|
|
|
NM_000393.5(COL5A2):c.1924-2_1928del
|
rs786205103
|
|
|
NM_000393.5(COL5A2):c.1924-4C>G
|
rs1559085578
|
|
|
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg)
|
rs1559085564
|
|
|
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys)
|
|
|
|
NM_000393.5(COL5A2):c.1954C>A (p.Pro652Thr)
|
|
|
|
NM_000393.5(COL5A2):c.1955C>T (p.Pro652Leu)
|
rs766743234
|
|
|
NM_000393.5(COL5A2):c.1959T>C (p.Ser653=)
|
|
|
|
NM_000393.5(COL5A2):c.1971C>T (p.Gly657=)
|
rs1686065633
|
|
|
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser)
|
rs1686065578
|
|
|
NM_000393.5(COL5A2):c.1973C>A (p.Pro658Gln)
|
rs746458284
|
|
|
NM_000393.5(COL5A2):c.1974G>A (p.Pro658=)
|
|
|
|
NM_000393.5(COL5A2):c.1977+10T>C
|
|
|
|
NM_000393.5(COL5A2):c.1977+13dup
|
|
|
|
NM_000393.5(COL5A2):c.1977+1G>A
|
rs1576502045
|
|
|
NM_000393.5(COL5A2):c.1977+8A>G
|
|
|
|
NM_000393.5(COL5A2):c.1977+9T>C
|
|
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
|
NM_000393.5(COL5A2):c.1978-6A>G
|
|
|
|
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val)
|
|
|
|
NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)
|
|
|
|
NM_000393.5(COL5A2):c.2013A>G (p.Pro671=)
|
rs2105586702
|
|
|
NM_000393.5(COL5A2):c.2019C>T (p.Pro673=)
|
rs2105586689
|
|
|
NM_000393.5(COL5A2):c.2031+1G>A
|
|
|
|
NM_000393.5(COL5A2):c.2031+1G>T
|
rs786205104
|
|
|
NM_000393.5(COL5A2):c.2031+6C>T
|
rs1686033754
|
|
|
NM_000393.5(COL5A2):c.2032-13A>T
|
|
|
|
NM_000393.5(COL5A2):c.2032-3T>C
|
|
|
|
NM_000393.5(COL5A2):c.2032-3T>G
|
|
|
|
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=)
|
rs1553515128
|
|
|
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu)
|
rs1019506931
|
|
|
NM_000393.5(COL5A2):c.2061A>C (p.Gly687=)
|
rs2105584664
|
|
|
NM_000393.5(COL5A2):c.2062G>A (p.Glu688Lys)
|
|
|
|
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala)
|
rs541711311
|
|
|
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg)
|
rs142224646
|
|
|
NM_000393.5(COL5A2):c.2085+10T>C
|
|
|
|
NM_000393.5(COL5A2):c.2085+19A>G
|
rs2105584543
|
|
|
NM_000393.5(COL5A2):c.2086-12del
|
rs5837121
|
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12del
|
rs5837121
|
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12dup
|
|
|
|
NM_000393.5(COL5A2):c.2086-23dup
|
rs5837121
|
|
|
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr)
|
rs146005731
|
|
|
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr)
|
|
|
|
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
|
|
|
|
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr)
|
|
|
|
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser)
|
|
|
|
NM_000393.5(COL5A2):c.2130+13A>G
|
|
|
|
NM_000393.5(COL5A2):c.2130+16T>G
|
|
|
|
NM_000393.5(COL5A2):c.2130+1G>A
|
rs2105579086
|
|
|
NM_000393.5(COL5A2):c.2131-15C>A
|
|
|
|
NM_000393.5(COL5A2):c.2137C>T (p.Arg713Ter)
|
|
|
|
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg)
|
|
|
|
NM_000393.5(COL5A2):c.2151G>A (p.Gly717=)
|
|
|
|
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu)
|
rs1553514920
|
|
|
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=)
|
rs1272808206
|
|
|
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=)
|
rs1307423893
|
|
|
NM_000393.5(COL5A2):c.2193G>A (p.Lys731=)
|
|
|
|
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro)
|
rs1559083259
|
|
|
NM_000393.5(COL5A2):c.2229+14T>G
|
|
|
|
NM_000393.5(COL5A2):c.2229+15G>A
|
|
|
|
NM_000393.5(COL5A2):c.2229+8T>C
|
|
|
|
NM_000393.5(COL5A2):c.2234G>T (p.Ser745Ile)
|
rs2105575470
|
|
|
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=)
|
rs928855762
|
|
|
NM_000393.5(COL5A2):c.2261A>G (p.Asp754Gly)
|
|
|
|
NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr)
|
|
|
|
NM_000393.5(COL5A2):c.2281C>G (p.Gln761Glu)
|
|
|
|
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
|
|
|
|
NM_000393.5(COL5A2):c.2285G>A (p.Gly762Asp)
|
|
|
|
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu)
|
rs150260969
|
|
|
NM_000393.5(COL5A2):c.2295A>G (p.Gly765=)
|
|
|
|
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=)
|
rs369130743
|
|
|
NM_000393.5(COL5A2):c.2310A>G (p.Ala770=)
|
|
|
|
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg)
|
rs1357408674
|
|
|
NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)
|
|
|
|
NM_000393.5(COL5A2):c.2329G>T (p.Gly777Cys)
|
|
|
|
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly)
|
rs1032000194
|
|
|
NM_000393.5(COL5A2):c.2337+11T>C
|
|
|
|
NM_000393.5(COL5A2):c.2337+18_2337+29del
|
|
|
|
NM_000393.5(COL5A2):c.2337+8C>T
|
rs999144463
|
|
|
NM_000393.5(COL5A2):c.2337+8_2337+10del
|
|
|
|
NM_000393.5(COL5A2):c.2337+8_2337+11del
|
rs2105574989
|
|
|
NM_000393.5(COL5A2):c.2338-12G>T
|
|
|
|
NM_000393.5(COL5A2):c.2338-15T>G
|
|
|
|
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
|
|
|
|
NM_000393.5(COL5A2):c.2340T>A (p.Gly780=)
|
|
|
|
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser)
|
rs781215270
|
|
|
NM_000393.5(COL5A2):c.2345T>A (p.Ile782Lys)
|
rs1198104925
|
|
|
NM_000393.5(COL5A2):c.235G>A (p.Val79Met)
|
|
|
|
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr)
|
|
|
|
NM_000393.5(COL5A2):c.2389A>G (p.Arg797Gly)
|
rs2105573986
|
|
|
NM_000393.5(COL5A2):c.2392-15_2392-14insTGTTG
|
|
|
|
NM_000393.5(COL5A2):c.2393G>T (p.Gly798Val)
|
|
|
|
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
|
|
|
|
NM_000393.5(COL5A2):c.2404C>A (p.Pro802Thr)
|
|
|
|
NM_000393.5(COL5A2):c.241G>A (p.Asp81Asn)
|
|
|
|
NM_000393.5(COL5A2):c.2429G>T (p.Gly810Val)
|
|
|
|
NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr)
|
|
|
|
NM_000393.5(COL5A2):c.2434A>C (p.Thr812Pro)
|
|
|
|
NM_000393.5(COL5A2):c.2445+15G>A
|
rs767821578
|
|
|
NM_000393.5(COL5A2):c.2445+19A>C
|
|
|
|
NM_000393.5(COL5A2):c.2445+8A>G
|
|
|
|
NM_000393.5(COL5A2):c.2446-11C>T
|
|
|
|
NM_000393.5(COL5A2):c.2446-13A>G
|
|
|
|
NM_000393.5(COL5A2):c.2446-35_2446-9del
|
rs2105566377
|
|
|
NM_000393.5(COL5A2):c.2446-5T>C
|
rs1685846142
|
|
|
NM_000393.5(COL5A2):c.2446-7T>C
|
rs1685846268
|
|
|
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)
|
|
|
|
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=)
|
rs749675749
|
|
|
NM_000393.5(COL5A2):c.2493C>G (p.Gly831=)
|
|
|
|
NM_000393.5(COL5A2):c.2499+10A>G
|
rs886055356
|
|
|
NM_000393.5(COL5A2):c.2499+16_2499+17dup
|
|
|
|
NM_000393.5(COL5A2):c.2499+19G>C
|
|
|
|
NM_000393.5(COL5A2):c.2499+6T>G
|
|
|
|
NM_000393.5(COL5A2):c.2499+8A>G
|
|
|
|
NM_000393.5(COL5A2):c.2499+9C>G
|
|
|
|
NM_000393.5(COL5A2):c.2500-14_2500-13del
|
rs2105565157
|
|
|
NM_000393.5(COL5A2):c.2500-16C>G
|
|
|
|
NM_000393.5(COL5A2):c.2500-5C>T
|
rs1306555149
|
|
|
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly)
|
rs367718811
|
|
|
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln)
|
rs751683516
|
|
|
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro)
|
rs751683516
|
|
|
NM_000393.5(COL5A2):c.250G>C (p.Asp84His)
|
rs745528957
|
|
|
NM_000393.5(COL5A2):c.2512G>A (p.Glu838Lys)
|
|
|
|
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
|
|
|
|
NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)
|
|
|
|
NM_000393.5(COL5A2):c.2538T>A (p.Gly846=)
|
|
|
|
NM_000393.5(COL5A2):c.2545G>A (p.Gly849Arg)
|
rs368239207
|
|
|
NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg)
|
|
|
|
NM_000393.5(COL5A2):c.2553+11C>T
|
|
|
|
NM_000393.5(COL5A2):c.2553+1G>T
|
|
|
|
NM_000393.5(COL5A2):c.2553+20C>T
|
|
|
|
NM_000393.5(COL5A2):c.2553+2del
|
rs1553514506
|
|
|
NM_000393.5(COL5A2):c.2553+5A>T
|
rs371072906
|
|
|
NM_000393.5(COL5A2):c.2554-10T>A
|
|
|
|
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu)
|
rs148430780
|
|
|
NM_000393.5(COL5A2):c.256G>A (p.Val86Ile)
|
rs1387694873
|
|
|
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu)
|
rs938162476
|
|
|
NM_000393.5(COL5A2):c.2571T>C (p.Pro857=)
|
|
|
|
NM_000393.5(COL5A2):c.2584G>A (p.Glu862Lys)
|
rs1685823479
|
|
|
NM_000393.5(COL5A2):c.2587C>A (p.Pro863Thr)
|
|
|
|
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu)
|
rs143261719
|
|
|
NM_000393.5(COL5A2):c.2598A>G (p.Pro866=)
|
rs757721541
|
|
|
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro)
|
rs1687234505
|
|
|
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys)
|
rs1553514451
|
|
|
NM_000393.5(COL5A2):c.2614G>T (p.Ala872Ser)
|
|
|
|
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu)
|
rs886039694
|
|
|
NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)
|
|
|
|
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser)
|
rs760858324
|
|
|
NM_000393.5(COL5A2):c.2642C>T (p.Ala881Val)
|
rs1685821871
|
|
|
NM_000393.5(COL5A2):c.2650C>A (p.Pro884Thr)
|
|
|
|
NM_000393.5(COL5A2):c.2653G>A (p.Gly885Ser)
|
|
|
|
NM_000393.5(COL5A2):c.2661+10C>A
|
|
|
|
NM_000393.5(COL5A2):c.2661+10C>T
|
|
|
|
NM_000393.5(COL5A2):c.2661+11A>G
|
|
|
|
NM_000393.5(COL5A2):c.2661+16_2661+17insCTTGAGTC
|
|
|
|
NM_000393.5(COL5A2):c.2661+17_2661+20delinsCTTGAGTCAAGTTAA
|
|
|
|
NM_000393.5(COL5A2):c.2661+20G>T
|
rs79623676
|
|
|
NM_000393.5(COL5A2):c.2661T>C (p.His887=)
|
|
|
|
NM_000393.5(COL5A2):c.2662-16G>C
|
|
|
|
NM_000393.5(COL5A2):c.2662-2A>G
|
|
|
|
NM_000393.5(COL5A2):c.2662-6A>G
|
|
|
|
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp)
|
|
|
|
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg)
|
rs2105563064
|
|
|
NM_000393.5(COL5A2):c.2703C>A (p.Thr901=)
|
|
|
|
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln)
|
|
|
|
NM_000393.5(COL5A2):c.2715+14A>G
|
|
|
|
NM_000393.5(COL5A2):c.2715+15T>C
|
|
|
|
NM_000393.5(COL5A2):c.2716-20A>G
|
|
|
|
NM_000393.5(COL5A2):c.273A>G (p.Glu91=)
|
|
|
|
NM_000393.5(COL5A2):c.2762G>C (p.Gly921Ala)
|
rs150206569
|
|
|
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala)
|
rs1349278394
|
|
|
NM_000393.5(COL5A2):c.2769+13A>C
|
|
|
|
NM_000393.5(COL5A2):c.2769+14G>C
|
|
|
|
NM_000393.5(COL5A2):c.2769+20C>T
|
|
|
|
NM_000393.5(COL5A2):c.2769+2dup
|
|
|
|
NM_000393.5(COL5A2):c.2770-14_2770-11del
|
|
|
|
NM_000393.5(COL5A2):c.2770-14del
|
|
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
|
NM_000393.5(COL5A2):c.2770-18C>T
|
|
|
|
NM_000393.5(COL5A2):c.2770-4C>T
|
rs1576494559
|
|
|
NM_000393.5(COL5A2):c.2780G>C (p.Gly927Ala)
|
|
|
|
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu)
|
rs747843876
|
|
|
NM_000393.5(COL5A2):c.2789G>A (p.Gly930Glu)
|
|
|
|
NM_000393.5(COL5A2):c.2789G>T (p.Gly930Val)
|
|
|
|
NM_000393.5(COL5A2):c.27A>G (p.Arg9=)
|
|
|
|
NM_000393.5(COL5A2):c.2806G>A (p.Gly936Arg)
|
rs1471655044
|
|
|
NM_000393.5(COL5A2):c.2812G>A (p.Glu938Lys)
|
rs2105559330
|
|
|
NM_000393.5(COL5A2):c.2816G>A (p.Gly939Glu)
|
|
|
|
NM_000393.5(COL5A2):c.281C>T (p.Pro94Leu)
|
|
|
|
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=)
|
rs1576494477
|
|
|
NM_000393.5(COL5A2):c.2830C>T (p.Arg944Cys)
|
|
|
|
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg)
|
rs1685785467
|
|
|
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu)
|
rs868695034
|
|
|
NM_000393.5(COL5A2):c.2835G>A (p.Gly945=)
|
|
|
|
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala)
|
rs1027615025
|
|
|
NM_000393.5(COL5A2):c.2851G>A (p.Gly951Arg)
|
|
|
|
NM_000393.5(COL5A2):c.2859G>A (p.Val953=)
|
rs1685784025
|
|
|
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)
|
rs754751410
|
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
|
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser)
|
rs957007431
|
|
|
NM_000393.5(COL5A2):c.2880C>T (p.Gly960=)
|
|
|
|
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
|
|
|
|
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)
|
|
|
|
NM_000393.5(COL5A2):c.2892C>A (p.Gly964=)
|
|
|
|
NM_000393.5(COL5A2):c.2892C>T (p.Gly964=)
|
rs2105558761
|
|
|
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr)
|
|
|
|
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr)
|
rs1457897938
|
|
|
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val)
|
|
|
|
NM_000393.5(COL5A2):c.2901C>T (p.Asp967=)
|
rs2105558694
|
|
|
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg)
|
|
|
|
NM_000393.5(COL5A2):c.2907G>C (p.Gly969=)
|
rs2105558672
|
|
|
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
|
rs1685782021
|
|
|
NM_000393.5(COL5A2):c.291A>G (p.Ser97=)
|
|
|
|
NM_000393.5(COL5A2):c.2922T>C (p.Asp974=)
|
|
|
|
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser)
|
rs1576494351
|
|
|
NM_000393.5(COL5A2):c.2931+10G>A
|
|
|
|
NM_000393.5(COL5A2):c.2931+12G>A
|
|
|
|
NM_000393.5(COL5A2):c.2931+17C>T
|
|
|
|
NM_000393.5(COL5A2):c.2931+5G>T
|
|
|
|
NM_000393.5(COL5A2):c.2932-11C>T
|
rs1158417509
|
|
|
NM_000393.5(COL5A2):c.2932G>C (p.Gly978Arg)
|
rs2153508067
|
|
|
NM_000393.5(COL5A2):c.2941G>A (p.Gly981Ser)
|
rs2153508066
|
|
|
NM_000393.5(COL5A2):c.2945C>A (p.Pro982His)
|
|
|
|
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)
|
rs1576493931
|
|
|
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)
|
rs1685766586
|
|
|
NM_000393.5(COL5A2):c.296C>T (p.Thr99Ile)
|
|
|
|
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=)
|
rs933589600
|
|
|
NM_000393.5(COL5A2):c.2980A>T (p.Ile994Phe)
|
|
|
|
NM_000393.5(COL5A2):c.2983G>C (p.Val995Leu)
|
|
|
|
NM_000393.5(COL5A2):c.3001C>G (p.Arg1001Gly)
|
|
|
|
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys)
|
rs863223507
|
|
|
NM_000393.5(COL5A2):c.3002G>A (p.Arg1001His)
|
|
|
|
NM_000393.5(COL5A2):c.3003T>A (p.Arg1001=)
|
|
|
|
NM_000393.5(COL5A2):c.3015C>T (p.Gly1005=)
|
|
|
|
NM_000393.5(COL5A2):c.3035C>A (p.Pro1012Gln)
|
|
|
|
NM_000393.5(COL5A2):c.3039+13A>G
|
|
|
|
NM_000393.5(COL5A2):c.3039+16G>A
|
|
|
|
NM_000393.5(COL5A2):c.3039+8G>A
|
|
|
|
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=)
|
rs751945982
|
|
|
NM_000393.5(COL5A2):c.303A>G (p.Gly101=)
|
|
|
|
NM_000393.5(COL5A2):c.3040-19A>G
|
|
|
|
NM_000393.5(COL5A2):c.3040-7A>G
|
rs1236877990
|
|
|
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val)
|
|
|
|
NM_000393.5(COL5A2):c.3044C>A (p.Thr1015Lys)
|
|
|
|
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile)
|
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
|
NM_000393.5(COL5A2):c.3064A>C (p.Thr1022Pro)
|
|
|
|
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val)
|
rs1685736900
|
|
|
NM_000393.5(COL5A2):c.306T>C (p.Gly102=)
|
|
|
|
NM_000393.5(COL5A2):c.3070G>A (p.Ala1024Thr)
|
|
|
|
NM_000393.5(COL5A2):c.3084A>C (p.Lys1028Asn)
|
rs774936724
|
|
|
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=)
|
rs774936724
|
|
|
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
|
rs1685735868
|
|
|
NM_000393.5(COL5A2):c.3108C>A (p.Pro1036=)
|
rs2153507896
|
|
|
NM_000393.5(COL5A2):c.3114C>T (p.Gly1038=)
|
|
|
|
NM_000393.5(COL5A2):c.3122G>A (p.Gly1041Asp)
|
|
|
|
NM_000393.5(COL5A2):c.3127G>A (p.Val1043Ile)
|
rs1186405696
|
|
|
NM_000393.5(COL5A2):c.3136C>A (p.Pro1046Thr)
|
|
|
|
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln)
|
rs1685734191
|
|
|
NM_000393.5(COL5A2):c.3147+12A>G
|
|
|
|
NM_000393.5(COL5A2):c.3147+1G>A
|
rs1685734160
|
|
|
NM_000393.5(COL5A2):c.3147+5_3147+16del
|
|
|
|
NM_000393.5(COL5A2):c.3148-2A>G
|
rs1553513971
|
|
|
NM_000393.5(COL5A2):c.3148-6T>G
|
|
|
|
NM_000393.5(COL5A2):c.3148-9T>A
|
|
|
|
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser)
|
rs2153507740
|
|
|
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)
|
|
|
|
NM_000393.5(COL5A2):c.3159C>A (p.Gly1053=)
|
|
|
|
NM_000393.5(COL5A2):c.3171C>G (p.Thr1057=)
|
|
|
|
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=)
|
rs374549843
|
|
|
NM_000393.5(COL5A2):c.3179G>C (p.Arg1060Pro)
|
|
|
|
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
|
rs778501601
|
|
|
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile)
|
rs1576577162
|
|
|
NM_000393.5(COL5A2):c.3201+15A>C
|
|
|
|
NM_000393.5(COL5A2):c.3201+17T>A
|
|
|
|
NM_000393.5(COL5A2):c.3201+1G>T
|
|
|
|
NM_000393.5(COL5A2):c.3202-17A>G
|
|
|
|
NM_000393.5(COL5A2):c.3207T>C (p.Asp1069=)
|
|
|
|
NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn)
|
|
|
|
NM_000393.5(COL5A2):c.322+10T>A
|
rs2105711790
|
|
|
NM_000393.5(COL5A2):c.322+7A>G
|
|
|
|
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp)
|
|
|
|
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
|
|
|
|
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val)
|
|
|
|
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp)
|
rs1559076883
|
|
|
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
|
|
|
|
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser)
|
|
|
|
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr)
|
|
|
|
NM_000393.5(COL5A2):c.326G>A (p.Arg109Lys)
|
|
|
|
NM_000393.5(COL5A2):c.3278C>A (p.Ala1093Asp)
|
|
|
|
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg)
|
rs1576490680
|
|
|
NM_000393.5(COL5A2):c.3295C>G (p.Gln1099Glu)
|
|
|
|
NM_000393.5(COL5A2):c.3296A>G (p.Gln1099Arg)
|
|
|
|
NM_000393.5(COL5A2):c.3309+1G>A
|
rs1553513657
|
|
|
NM_000393.5(COL5A2):c.3309+20C>T
|
rs2153507358
|
|
|
NM_000393.5(COL5A2):c.3309+6G>A
|
rs775681859
|
|
|
NM_000393.5(COL5A2):c.3309+9G>A
|
|
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
|
NM_000393.5(COL5A2):c.3310-19dup
|
rs767565265
|
|
|
NM_000393.5(COL5A2):c.3310-4T>G
|
rs2153507285
|
|
|
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val)
|
rs1167178682
|
|
|
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser)
|
rs1685640502
|
|
|
NM_000393.5(COL5A2):c.3334C>A (p.Pro1112Thr)
|
|
|
|
NM_000393.5(COL5A2):c.3334C>T (p.Pro1112Ser)
|
|
|
|
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val)
|
rs981465775
|
|
|
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
|
|
|
|
NM_000393.5(COL5A2):c.3347G>A (p.Gly1116Glu)
|
|
|
|
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=)
|
rs1553513577
|
|
|
NM_000393.5(COL5A2):c.3351A>G (p.Lys1117=)
|
|
|
|
NM_000393.5(COL5A2):c.336+3A>T
|
rs762140704
|
|
|
NM_000393.5(COL5A2):c.3363+17del
|
|
|
|
NM_000393.5(COL5A2):c.3363+18_3363+21del
|
|
|
|
NM_000393.5(COL5A2):c.3364-10C>G
|
|
|
|
NM_000393.5(COL5A2):c.3364-18C>T
|
|
|
|
NM_000393.5(COL5A2):c.3364-5T>A
|
|
|
|
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg)
|
|
|
|
NM_000393.5(COL5A2):c.337-15T>C
|
|
|
|
NM_000393.5(COL5A2):c.337-17T>C
|
|
|
|
NM_000393.5(COL5A2):c.3373G>C (p.Gly1125Arg)
|
|
|
|
NM_000393.5(COL5A2):c.3380G>A (p.Arg1127His)
|
|
|
|
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
|
|
|
|
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)
|
rs747946828
|
|
|
NM_000393.5(COL5A2):c.3394G>A (p.Asp1132Asn)
|
|
|
|
NM_000393.5(COL5A2):c.3395A>G (p.Asp1132Gly)
|
|
|
|
NM_000393.5(COL5A2):c.3399T>C (p.His1133=)
|
|
|
|
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)
|
|
|
|
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln)
|
rs562950263
|
|
|
NM_000393.5(COL5A2):c.3428G>A (p.Gly1143Asp)
|
rs1685595072
|
|
|
NM_000393.5(COL5A2):c.3432C>T (p.His1144=)
|
rs1685594948
|
|
|
NM_000393.5(COL5A2):c.3438C>G (p.Gly1146=)
|
|
|
|
NM_000393.5(COL5A2):c.3444T>G (p.Thr1148=)
|
rs2153507006
|
|
|
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)
|
rs121912930
|
|
|
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn)
|
rs2105690115
|
|
|
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala)
|
|
|
|
NM_000393.5(COL5A2):c.3471+11C>T
|
|
|
|
NM_000393.5(COL5A2):c.3471+17_3471+20del
|
|
|
|
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
|
rs1685586746
|
|
|
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu)
|
rs863223508
|
|
|
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
|
|
|
|
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
|
|
|
|
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe)
|
rs768807471
|
|
|
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His)
|
rs2153506953
|
|
|
NM_000393.5(COL5A2):c.3525+15G>A
|
|
|
|
NM_000393.5(COL5A2):c.3525+15G>T
|
rs2153506949
|
|
|
NM_000393.5(COL5A2):c.3525+20A>C
|
|
|
|
NM_000393.5(COL5A2):c.3526-17G>C
|
|
|
|
NM_000393.5(COL5A2):c.3526-5T>G
|
|
|
|
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln)
|
rs1060501905
|
|
|
NM_000393.5(COL5A2):c.3538C>T (p.Pro1180Ser)
|
|
|
|
NM_000393.5(COL5A2):c.3573G>T (p.Gly1191=)
|
rs2153506821
|
|
|
NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)
|
|
|
|
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg)
|
|
|
|
NM_000393.5(COL5A2):c.3599G>T (p.Gly1200Val)
|
rs1685564185
|
|
|
NM_000393.5(COL5A2):c.3601G>A (p.Val1201Ile)
|
rs1685564109
|
|
|
NM_000393.5(COL5A2):c.3605G>A (p.Arg1202Gln)
|
|
|
|
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp)
|
rs1576488066
|
|
|
NM_000393.5(COL5A2):c.3613G>T (p.Val1205Leu)
|
rs377660244
|
|
|
NM_000393.5(COL5A2):c.3625G>C (p.Gly1209Arg)
|
|
|
|
NM_000393.5(COL5A2):c.3631G>A (p.Glu1211Lys)
|
|
|
|
NM_000393.5(COL5A2):c.3633+14G>A
|
|
|
|
NM_000393.5(COL5A2):c.3633+17T>C
|
|
|
|
NM_000393.5(COL5A2):c.3633+9A>T
|
|
|
|
NM_000393.5(COL5A2):c.3634-3T>C
|
|
|
|
NM_000393.5(COL5A2):c.3634-4T>C
|
|
|
|
NM_000393.5(COL5A2):c.3634G>C (p.Gly1212Arg)
|
|
|
|
NM_000393.5(COL5A2):c.3635G>A (p.Gly1212Asp)
|
|
|
|
NM_000393.5(COL5A2):c.3641C>A (p.Pro1214His)
|
|
|
|
NM_000393.5(COL5A2):c.3642T>A (p.Pro1214=)
|
|
|
|
NM_000393.5(COL5A2):c.3656C>A (p.Pro1219Gln)
|
|
|
|
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)
|
rs1685515304
|
|
|
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala)
|
|
|
|
NM_000393.5(COL5A2):c.369+1G>T
|
rs1559104199
|
|
|
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
|
|
|
|
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr)
|
|
|
|
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro)
|
rs1263127952
|
|
|
NM_000393.5(COL5A2):c.370-9A>T
|
rs2105686943
|
|
|
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val)
|
rs1685513453
|
|
|
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg)
|
|
|
|
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)
|
rs145100971
|
|
|
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile)
|
rs780628821
|
|
|
NM_000393.5(COL5A2):c.3736G>A (p.Asp1246Asn)
|
|
|
|
NM_000393.5(COL5A2):c.3743T>C (p.Leu1248Pro)
|
rs2153506518
|
|
|
NM_000393.5(COL5A2):c.3748G>A (p.Glu1250Lys)
|
|
|
|
NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)
|
|
|
|
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=)
|
rs1576486483
|
|
|
NM_000393.5(COL5A2):c.3766G>A (p.Ala1256Thr)
|
|
|
|
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu)
|
|
|
|
NM_000393.5(COL5A2):c.3798A>G (p.Pro1266=)
|
|
|
|
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu)
|
rs1064795177
|
|
|
NM_000393.5(COL5A2):c.3800G>T (p.Gly1267Val)
|
|
|
|
NM_000393.5(COL5A2):c.3802G>T (p.Val1268Phe)
|
|
|
|
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
|
|
|
|
NM_000393.5(COL5A2):c.3834G>A (p.Gln1278=)
|
rs2153506504
|
|
|
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
|
rs772344964
|
|
|
NM_000393.5(COL5A2):c.3847C>T (p.Arg1283Cys)
|
|
|
|
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu)
|
rs867460091
|
|
|
NM_000393.5(COL5A2):c.386del (p.Gly129fs)
|
rs2105686874
|
|
|
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val)
|
rs1251846979
|
|
|
NM_000393.5(COL5A2):c.3879C>T (p.Ala1293=)
|
rs1685508284
|
|
|
NM_000393.5(COL5A2):c.387del (p.Arg130fs)
|
rs2105686869
|
|
|
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val)
|
|
|
|
NM_000393.5(COL5A2):c.3895C>T (p.Leu1299=)
|
|
|
|
NM_000393.5(COL5A2):c.3903T>C (p.Leu1301=)
|
|
|
|
NM_000393.5(COL5A2):c.3906C>T (p.Cys1302=)
|
rs532409377
|
|
|
NM_000393.5(COL5A2):c.3912C>T (p.Ser1304=)
|
|
|
|
NM_000393.5(COL5A2):c.3918G>A (p.Lys1306=)
|
|
|
|
NM_000393.5(COL5A2):c.3925+17C>G
|
rs1685506449
|
|
|
NM_000393.5(COL5A2):c.3926-14A>G
|
rs1377852358
|
|
|
NM_000393.5(COL5A2):c.3926-3T>C
|
rs1685452266
|
|
|
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp)
|
rs863223497
|
|
|
NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)
|
|
|
|
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu)
|
|
|
|
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys)
|
rs2153506166
|
|
|
NM_000393.5(COL5A2):c.3950A>G (p.Gln1317Arg)
|
rs2153506165
|
|
|
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu)
|
rs1685452114
|
|
|
NM_000393.5(COL5A2):c.3969A>G (p.Ala1323=)
|
rs1131429
|
|
|
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=)
|
rs775697182
|
|
|
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro)
|
|
|
|
NM_000393.5(COL5A2):c.402+15C>T
|
|
|
|
NM_000393.5(COL5A2):c.402+17A>G
|
|
|
|
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys)
|
rs771310130
|
|
|
NM_000393.5(COL5A2):c.403-15C>G
|
|
|
|
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=)
|
rs2153506152
|
|
|
NM_000393.5(COL5A2):c.4044C>A (p.Thr1348=)
|
rs1430568106
|
|
|
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)
|
rs1685449943
|
|
|
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu)
|
rs771590535
|
|
|
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr)
|
rs1157866285
|
|
|
NM_000393.5(COL5A2):c.4076C>A (p.Pro1359His)
|
rs745580343
|
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
|
NM_000393.5(COL5A2):c.4081T>C (p.Trp1361Arg)
|
rs761506002
|
|
|
NM_000393.5(COL5A2):c.4093G>A (p.Asp1365Asn)
|
|
|
|
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)
|
rs372226064
|
|
|
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg)
|
rs767685753
|
|
|
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu)
|
rs759631023
|
|
|
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
|
|
|
|
NM_000393.5(COL5A2):c.4113+16del
|
rs779762130
|
|
|
NM_000393.5(COL5A2):c.4113+17A>C
|
|
|
|
NM_000393.5(COL5A2):c.4113+18C>G
|
|
|
|
NM_000393.5(COL5A2):c.4113+3A>G
|
rs1685448298
|
|
|
NM_000393.5(COL5A2):c.4114-18_4114-17del
|
rs1440458273
|
|
|
NM_000393.5(COL5A2):c.4114-20A>G
|
rs1057523545
|
|
|
NM_000393.5(COL5A2):c.4114-20_4114-19del
|
|
|
|
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr)
|
rs1685418656
|
|
|
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg)
|
|
|
|
NM_000393.5(COL5A2):c.4137A>G (p.Ser1379=)
|
rs2153505989
|
|
|
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
|
|
|
|
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
|
|
|
|
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=)
|
rs1685417610
|
|
|
NM_000393.5(COL5A2):c.4154C>T (p.Thr1385Ile)
|
|
|
|
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile)
|
rs1424971937
|
|
|
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn)
|
rs771415085
|
|
|
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile)
|
rs771415085
|
|
|
NM_000393.5(COL5A2):c.4164T>A (p.Thr1388=)
|
|
|
|
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
|
|
|
|
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe)
|
|
|
|
NM_000393.5(COL5A2):c.4179A>G (p.Leu1393=)
|
rs200888890
|
|
|
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)
|
|
|
|
NM_000393.5(COL5A2):c.4185A>G (p.Lys1395=)
|
|
|
|
NM_000393.5(COL5A2):c.4187A>G (p.Glu1396Gly)
|
|
|
|
NM_000393.5(COL5A2):c.4189G>A (p.Ala1397Thr)
|
|
|
|
NM_000393.5(COL5A2):c.4194C>G (p.Ser1398=)
|
|
|
|
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=)
|
rs979486002
|
|
|
NM_000393.5(COL5A2):c.4207T>A (p.Tyr1403Asn)
|
|
|
|
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly)
|
rs1685415940
|
|
|
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile)
|
|
|
|
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
|
|
|
|
NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)
|
|
|
|
NM_000393.5(COL5A2):c.426A>G (p.Pro142=)
|
|
|
|
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)
|
|
|
|
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
|
|
|
|
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly)
|
rs141777954
|
|
|
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs)
|
rs1553512393
|
|
|
NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)
|
|
|
|
NM_000393.5(COL5A2):c.429A>G (p.Arg143=)
|
rs1488001302
|
|
|
NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)
|
|
|
|
NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)
|
|
|
|
NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=)
|
rs1685413573
|
|
|
NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe)
|
|
|
|
NM_000393.5(COL5A2):c.4353+13T>A
|
|
|
|
NM_000393.5(COL5A2):c.4353+14G>C
|
|
|
|
NM_000393.5(COL5A2):c.4353+15A>T
|
rs375110145
|
|
|
NM_000393.5(COL5A2):c.4353+16T>C
|
|
|
|
NM_000393.5(COL5A2):c.4353+20C>T
|
|
|
|
NM_000393.5(COL5A2):c.4353+8C>G
|
rs1057523735
|
|
|
NM_000393.5(COL5A2):c.4354-6T>A
|
rs1576482939
|
|
|
NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile)
|
|
|
|
NM_000393.5(COL5A2):c.437G>C (p.Arg146Pro)
|
rs144430633
|
|
|
NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly)
|
rs1685396293
|
|
|
NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)
|
|
|
|
NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg)
|
|
|
|
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)
|
rs140109751
|
|
|
NM_000393.5(COL5A2):c.441G>A (p.Gly147=)
|
|
|
|
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
|
|
|
|
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly)
|
rs2153505892
|
|
|
NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)
|
|
|
|
NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=)
|
rs78905646
|
|
|
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)
|
rs775322653
|
|
|
NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)
|
|
|
|
NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)
|
|
|
|
NM_000393.5(COL5A2):c.4497G>A (p.Val1499=)
|
rs1249280287
|
|
|
NM_000393.5(COL5A2):c.450A>C (p.Gly150=)
|
|
|
|
NM_000393.5(COL5A2):c.456+10C>T
|
|
|
|
NM_000393.5(COL5A2):c.456+18C>T
|
rs887004952
|
|
|
NM_000393.5(COL5A2):c.456+3A>C
|
|
|
|
NM_000393.5(COL5A2):c.457-12C>T
|
rs1387666560
|
|
|
NM_000393.5(COL5A2):c.457-18A>G
|
|
|
|
NM_000393.5(COL5A2):c.457-6T>A
|
rs756707881
|
|
|
NM_000393.5(COL5A2):c.459C>T (p.Gly153=)
|
rs2105668392
|
|
|
NM_000393.5(COL5A2):c.470C>T (p.Pro157Leu)
|
|
|
|
NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala)
|
rs1686807213
|
|
|
NM_000393.5(COL5A2):c.479T>C (p.Ile160Thr)
|
rs1177082898
|
|
|
NM_000393.5(COL5A2):c.500C>A (p.Pro167His)
|
|
|
|
NM_000393.5(COL5A2):c.507A>G (p.Gln169=)
|
|
|
|
NM_000393.5(COL5A2):c.519A>C (p.Pro173=)
|
rs1553517803
|
|
|
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr)
|
rs886055358
|
|
|
NM_000393.5(COL5A2):c.534T>A (p.His178Gln)
|
|
|
|
NM_000393.5(COL5A2):c.534T>C (p.His178=)
|
|
|
|
NM_000393.5(COL5A2):c.537G>C (p.Pro179=)
|
|
|
|
NM_000393.5(COL5A2):c.537G>T (p.Pro179=)
|
|
|
|
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
|
|
|
|
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe)
|
rs2105831569
|
|
|
NM_000393.5(COL5A2):c.54A>G (p.Leu18=)
|
rs2105831569
|
|
|
NM_000393.5(COL5A2):c.552C>G (p.Pro184=)
|
|
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
|
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)
|
rs775933907
|
|
|
NM_000393.5(COL5A2):c.559T>C (p.Leu187=)
|
|
|
|
NM_000393.5(COL5A2):c.567+15T>C
|
|
|
|
NM_000393.5(COL5A2):c.567+16T>G
|
|
|
|
NM_000393.5(COL5A2):c.567+3G>A
|
|
|
|
NM_000393.5(COL5A2):c.568-316_3525+41del
|
|
|
|
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu)
|
rs774969990
|
|
|
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro)
|
rs142855115
|
|
|
NM_000393.5(COL5A2):c.609A>G (p.Gly203=)
|
|
|
|
NM_000393.5(COL5A2):c.615G>C (p.Gly205=)
|
rs757199738
|
|
|
NM_000393.5(COL5A2):c.622G>A (p.Val208Ile)
|
rs2105658300
|
|
|
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu)
|
rs1686718032
|
|
|
NM_000393.5(COL5A2):c.645+12T>G
|
rs2105658220
|
|
|
NM_000393.5(COL5A2):c.645+5G>A
|
|
|
|
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
|
|
|
|
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
|
|
|
|
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu)
|
rs201941612
|
|
|
NM_000393.5(COL5A2):c.686A>G (p.Gln229Arg)
|
rs1686671999
|
|
|
NM_000393.5(COL5A2):c.690+12T>G
|
|
|
|
NM_000393.5(COL5A2):c.690+13A>G
|
|
|
|
NM_000393.5(COL5A2):c.690+14T>C
|
|
|
|
NM_000393.5(COL5A2):c.690+5G>T
|
rs1576517517
|
|
|
NM_000393.5(COL5A2):c.690A>G (p.Gln230=)
|
|
|
|
NM_000393.5(COL5A2):c.691-18C>A
|
rs1440268271
|
|
|
NM_000393.5(COL5A2):c.691-20T>C
|
|
|
|
NM_000393.5(COL5A2):c.693T>A (p.Gly231=)
|
|
|
|
NM_000393.5(COL5A2):c.724C>T (p.Pro242Ser)
|
rs2105650411
|
|
|
NM_000393.5(COL5A2):c.727G>C (p.Gly243Arg)
|
|
|
|
NM_000393.5(COL5A2):c.731A>C (p.Asp244Ala)
|
|
|
|
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln)
|
rs1688743702
|
|
|
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr)
|
rs1686643340
|
|
|
NM_000393.5(COL5A2):c.744+13_744+16del
|
|
|
|
NM_000393.5(COL5A2):c.744+17C>G
|
|
|
|
NM_000393.5(COL5A2):c.744+19T>C
|
|
|
|
NM_000393.5(COL5A2):c.744+7G>A
|
rs774993105
|
|
|
NM_000393.5(COL5A2):c.744+8T>A
|
rs2105650306
|
|
|
NM_000393.5(COL5A2):c.745-19T>C
|
|
|
|
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)
|
rs556805686
|
|
|
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)
|
rs1553517323
|
|
|
NM_000393.5(COL5A2):c.761G>A (p.Arg254His)
|
|
|
|
NM_000393.5(COL5A2):c.798+10C>A
|
|
|
|
NM_000393.5(COL5A2):c.798+10del
|
|
|
|
NM_000393.5(COL5A2):c.798+6C>T
|
|
|
|
NM_000393.5(COL5A2):c.799-13T>A
|
rs2105645853
|
|
|
NM_000393.5(COL5A2):c.799-15dup
|
rs1169314276
|
|
|
NM_000393.5(COL5A2):c.799-18A>G
|
|
|
|
NM_000393.5(COL5A2):c.799-7C>T
|
rs879227018
|
|
|
NM_000393.5(COL5A2):c.799-8C>T
|
|
|
|
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg)
|
|
|
|
NM_000393.5(COL5A2):c.852+13T>G
|
rs2105645578
|
|
|
NM_000393.5(COL5A2):c.852+8T>C
|
rs2105645627
|
|
|
NM_000393.5(COL5A2):c.853-13G>A
|
rs1553516867
|
|
|
NM_000393.5(COL5A2):c.853-17_853-14del
|
|
|
|
NM_000393.5(COL5A2):c.853-3C>G
|
|
|
|
NM_000393.5(COL5A2):c.853-8C>T
|
|
|
|
NM_000393.5(COL5A2):c.860G>A (p.Arg287His)
|
|
|
|
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser)
|
|
|
|
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)
|
rs1211991688
|
|
|
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser)
|
rs1686522348
|
|
|
NM_000393.5(COL5A2):c.897G>A (p.Lys299=)
|
|
|
|
NM_000393.5(COL5A2):c.902A>G (p.His301Arg)
|
|
|
|
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
|
rs545574407
|
|
|
NM_000393.5(COL5A2):c.905G>T (p.Arg302Leu)
|
rs545574407
|
|
|
NM_000393.5(COL5A2):c.906+12C>G
|
rs1057521955
|
|
|
NM_000393.5(COL5A2):c.906+20A>G
|
|
|
|
NM_000393.5(COL5A2):c.907-12T>G
|
|
|
|
NM_000393.5(COL5A2):c.907-18T>C
|
|
|
|
NM_000393.5(COL5A2):c.907-19T>C
|
|
|
|
NM_000393.5(COL5A2):c.90C>T (p.Asp30=)
|
|
|
|
NM_000393.5(COL5A2):c.917G>C (p.Gly306Ala)
|
|
|
|
NM_000393.5(COL5A2):c.926G>A (p.Gly309Asp)
|
|
|
|
NM_000393.5(COL5A2):c.928C>A (p.Pro310Thr)
|
|
|
|
NM_000393.5(COL5A2):c.939A>G (p.Glu313=)
|
|
|
|
NM_000393.5(COL5A2):c.946G>A (p.Ala316Thr)
|
|
|
|
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro)
|
rs1060501908
|
|
|
NM_000393.5(COL5A2):c.960+11A>G
|
|
|
|
NM_000393.5(COL5A2):c.961-11dup
|
rs542134887
|
|
|
NM_000393.5(COL5A2):c.961-15C>T
|
|
|
|
NM_000393.5(COL5A2):c.961-18A>G
|
|
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
|
NM_000393.5(COL5A2):c.967G>C (p.Ala323Pro)
|
rs2105632778
|
|
|
NM_000393.5(COL5A2):c.97+10C>T
|
|
|
|
NM_000393.5(COL5A2):c.97+15T>C
|
|
|
|
NM_000393.5(COL5A2):c.971G>A (p.Gly324Asp)
|
rs2105632746
|
|
|
NM_000393.5(COL5A2):c.978T>C (p.Thr326=)
|
rs1053327487
|
|
|
NM_000393.5(COL5A2):c.98-10C>T
|
rs2105712624
|
|
|
NM_000393.5(COL5A2):c.98-1G>T
|
rs2105712615
|
|
|
NM_000393.5(COL5A2):c.98-22_98-18del
|
|
|
|
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
|
|
|
|
NM_000393.5(COL5A2):c.994A>T (p.Met332Leu)
|
|
|
|
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)
|
rs1569551838
|
|
|
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)
|
rs1557178957
|
|
|
NM_001110556.2(FLNA):c.1829-1G>C
|
rs1603362402
|
|
|
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)
|
rs267606815
|
|
|
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
|
rs80338841
|
|
|
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)
|
rs782178831
|
|
|
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp)
|
rs267606817
|
|
|
NM_001110556.2(FLNA):c.2228A>C (p.His743Pro)
|
rs2148115732
|
|
|
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
|
|
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
|
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
|
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)
|
|
|
|
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
|
|
|
|
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
|
|
|
|
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys)
|
rs2067685860
|
|
|
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)
|
rs1557177412
|
|
|
NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu)
|
rs2067683771
|
|
|
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)
|
rs782018054
|
|
|
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His)
|
rs1557177310
|
|
|
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)
|
rs1603360542
|
|
|
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly)
|
rs2148110326
|
|
|
NM_001110556.2(FLNA):c.4750_4755+18del
|
rs2067676994
|
|
|
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp)
|
rs2067775793
|
|
|
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
|
rs1569551874
|
|
|
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala)
|
rs781946233
|
|
|
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
|
|
|
|
NM_001110556.2(FLNA):c.5861-4C>G
|
|
|
|
NM_001110556.2(FLNA):c.622+5G>C
|
rs2067774568
|
|
|
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu)
|
rs1569551461
|
|
|
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp)
|
rs2148103926
|
|
|
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=)
|
rs1026564714
|
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)
|
rs267606816
|
|
|
NM_001128225.3(SLC39A13):c.-9+256T>C
|
|
|
|
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met)
|
rs1595887083
|
|
|
NM_001128225.3(SLC39A13):c.1010T>C (p.Leu337Pro)
|
rs2153301868
|
|
|
NM_001128225.3(SLC39A13):c.1037C>G (p.Pro346Arg)
|
|
|
|
NM_001128225.3(SLC39A13):c.1040+15G>T
|
|
|
|
NM_001128225.3(SLC39A13):c.1040+18G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.1040+19G>T
|
|
|
|
NM_001128225.3(SLC39A13):c.1041-5C>A
|
|
|
|
NM_001128225.3(SLC39A13):c.1044C>T (p.Arg348=)
|
|
|
|
NM_001128225.3(SLC39A13):c.1051C>T (p.Gln351Ter)
|
|
|
|
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=)
|
rs1398817706
|
|
|
NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=)
|
|
|
|
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=)
|
rs1163501092
|
|
|
NM_001128225.3(SLC39A13):c.1080C>T (p.Ile360=)
|
|
|
|
NM_001128225.3(SLC39A13):c.108C>T (p.Ala36=)
|
rs2153290859
|
|
|
NM_001128225.3(SLC39A13):c.1093C>T (p.Leu365=)
|
rs2153302063
|
|
|
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro)
|
rs2096021765
|
|
|
NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=)
|
|
|
|
NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=)
|
|
|
|
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
|
|
|
|
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu)
|
rs777112793
|
|
|
NM_001128225.3(SLC39A13):c.1107C>T (p.Phe369=)
|
|
|
|
NM_001128225.3(SLC39A13):c.111C>T (p.Leu37=)
|
rs777719077
|
|
|
NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)
|
|
|
|
NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)
|
|
|
|
NM_001128225.3(SLC39A13):c.133G>A (p.Ala45Thr)
|
|
|
|
NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val)
|
rs2095991241
|
|
|
NM_001128225.3(SLC39A13):c.141C>T (p.Arg47=)
|
|
|
|
NM_001128225.3(SLC39A13):c.153G>A (p.Lys51=)
|
rs529299524
|
|
|
NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=)
|
|
|
|
NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)
|
|
|
|
NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)
|
|
|
|
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala)
|
rs1565660438
|
|
|
NM_001128225.3(SLC39A13):c.211T>C (p.Ser71Pro)
|
rs983983551
|
|
|
NM_001128225.3(SLC39A13):c.234G>T (p.Val78=)
|
rs140298838
|
|
|
NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=)
|
|
|
|
NM_001128225.3(SLC39A13):c.255G>A (p.Pro85=)
|
rs145309500
|
|
|
NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del)
|
rs2095992049
|
|
|
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val)
|
rs754729494
|
|
|
NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)
|
|
|
|
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala)
|
rs2153291853
|
|
|
NM_001128225.3(SLC39A13):c.301+12_301+13del
|
|
|
|
NM_001128225.3(SLC39A13):c.301+14C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.301+5G>A
|
rs1351664483
|
|
|
NM_001128225.3(SLC39A13):c.302-4G>C
|
|
|
|
NM_001128225.3(SLC39A13):c.302-6T>C
|
|
|
|
NM_001128225.3(SLC39A13):c.302C>T (p.Ala101Val)
|
rs2153295514
|
|
|
NM_001128225.3(SLC39A13):c.323A>G (p.Gln108Arg)
|
rs1565662802
|
|
|
NM_001128225.3(SLC39A13):c.325C>G (p.Leu109Val)
|
rs146848042
|
|
|
NM_001128225.3(SLC39A13):c.325C>T (p.Leu109=)
|
|
|
|
NM_001128225.3(SLC39A13):c.352T>C (p.Leu118=)
|
|
|
|
NM_001128225.3(SLC39A13):c.369G>C (p.Leu123=)
|
|
|
|
NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=)
|
|
|
|
NM_001128225.3(SLC39A13):c.377dup (p.Pro127fs)
|
|
|
|
NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=)
|
|
|
|
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala)
|
rs148165667
|
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
|
NM_001128225.3(SLC39A13):c.39C>T (p.Gly13=)
|
rs1595877349
|
|
|
NM_001128225.3(SLC39A13):c.402C>T (p.Cys134=)
|
|
|
|
NM_001128225.3(SLC39A13):c.415+11C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.415+16C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.415+23_415+39del
|
|
|
|
NM_001128225.3(SLC39A13):c.415+9G>A
|
rs1595881246
|
|
|
NM_001128225.3(SLC39A13):c.416-11G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.420T>C (p.Gly140=)
|
|
|
|
NM_001128225.3(SLC39A13):c.447A>G (p.Gln149=)
|
|
|
|
NM_001128225.3(SLC39A13):c.456G>A (p.Gly152=)
|
|
|
|
NM_001128225.3(SLC39A13):c.459G>A (p.Leu153=)
|
|
|
|
NM_001128225.3(SLC39A13):c.483_491del (p.Phe162_Ala164del)
|
|
|
|
NM_001128225.3(SLC39A13):c.492G>A (p.Ala164=)
|
rs149634596
|
|
|
NM_001128225.3(SLC39A13):c.492G>C (p.Ala164=)
|
|
|
|
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=)
|
rs149634596
|
|
|
NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)
|
|
|
|
NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)
|
|
|
|
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile)
|
rs1555136368
|
|
|
NM_001128225.3(SLC39A13):c.537+18G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.537+19G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.537+8C>A
|
|
|
|
NM_001128225.3(SLC39A13):c.537+8C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.538-12_538-11del
|
|
|
|
NM_001128225.3(SLC39A13):c.538-13C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.538-20C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.558T>A (p.Thr186=)
|
rs749530840
|
|
|
NM_001128225.3(SLC39A13):c.567C>T (p.Ala189=)
|
|
|
|
NM_001128225.3(SLC39A13):c.579T>C (p.Asn193=)
|
rs2096009710
|
|
|
NM_001128225.3(SLC39A13):c.57_58inv (p.Thr20Ala)
|
|
|
|
NM_001128225.3(SLC39A13):c.582A>T (p.Gly194=)
|
|
|
|
NM_001128225.3(SLC39A13):c.585C>T (p.Gly195=)
|
|
|
|
NM_001128225.3(SLC39A13):c.588C>T (p.His196=)
|
|
|
|
NM_001128225.3(SLC39A13):c.615C>G (p.Pro205=)
|
rs147495812
|
|
|
NM_001128225.3(SLC39A13):c.634C>A (p.Arg212=)
|
rs1242800592
|
|
|
NM_001128225.3(SLC39A13):c.634C>T (p.Arg212Trp)
|
|
|
|
NM_001128225.3(SLC39A13):c.644A>C (p.Lys215Thr)
|
rs765944959
|
|
|
NM_001128225.3(SLC39A13):c.645+20C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.645+3G>A
|
rs2153299338
|
|
|
NM_001128225.3(SLC39A13):c.645+8G>T
|
|
|
|
NM_001128225.3(SLC39A13):c.645+9C>A
|
|
|
|
NM_001128225.3(SLC39A13):c.648C>A (p.Val216=)
|
|
|
|
NM_001128225.3(SLC39A13):c.648C>G (p.Val216=)
|
|
|
|
NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)
|
|
|
|
NM_001128225.3(SLC39A13):c.681C>T (p.Ile227=)
|
rs768663803
|
|
|
NM_001128225.3(SLC39A13):c.687C>T (p.Asn229=)
|
rs2153299573
|
|
|
NM_001128225.3(SLC39A13):c.693C>T (p.Thr231=)
|
rs2153299580
|
|
|
NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)
|
|
|
|
NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)
|
|
|
|
NM_001128225.3(SLC39A13):c.714C>G (p.Ala238=)
|
|
|
|
NM_001128225.3(SLC39A13):c.72G>A (p.Leu24=)
|
rs2153290671
|
|
|
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del)
|
rs2153299658
|
|
|
NM_001128225.3(SLC39A13):c.735+8G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.735+8G>T
|
rs568529293
|
|
|
NM_001128225.3(SLC39A13):c.736-10C>A
|
|
|
|
NM_001128225.3(SLC39A13):c.736-13C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.736-16G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.750A>C (p.Thr250=)
|
rs756237499
|
|
|
NM_001128225.3(SLC39A13):c.753C>T (p.Thr251=)
|
|
|
|
NM_001128225.3(SLC39A13):c.786+12T>C
|
|
|
|
NM_001128225.3(SLC39A13):c.786+15G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.786+26_786+41dup
|
rs2153301015
|
|
|
NM_001128225.3(SLC39A13):c.786+5G>A
|
rs1331180727
|
|
|
NM_001128225.3(SLC39A13):c.786+7G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.786+7G>C
|
rs375548129
|
|
|
NM_001128225.3(SLC39A13):c.787-16C>G
|
|
|
|
NM_001128225.3(SLC39A13):c.789G>A (p.Val263=)
|
rs747750601
|
|
|
NM_001128225.3(SLC39A13):c.812G>C (p.Arg271Pro)
|
rs376883075
|
|
|
NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=)
|
|
|
|
NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=)
|
|
|
|
NM_001128225.3(SLC39A13):c.849A>T (p.Gln283His)
|
rs1468079148
|
|
|
NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=)
|
|
|
|
NM_001128225.3(SLC39A13):c.863T>G (p.Leu288Arg)
|
|
|
|
NM_001128225.3(SLC39A13):c.86G>A (p.Arg29Lys)
|
rs751210151
|
|
|
NM_001128225.3(SLC39A13):c.875T>G (p.Leu292Arg)
|
|
|
|
NM_001128225.3(SLC39A13):c.880G>A (p.Ala294Thr)
|
|
|
|
NM_001128225.3(SLC39A13):c.909C>A (p.Pro303=)
|
rs527684138
|
|
|
NM_001128225.3(SLC39A13):c.919+13C>A
|
|
|
|
NM_001128225.3(SLC39A13):c.919+13C>T
|
|
|
|
NM_001128225.3(SLC39A13):c.919+16G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.919+19G>C
|
rs1203376008
|
|
|
NM_001128225.3(SLC39A13):c.919+19dup
|
rs747836551
|
|
|
NM_001128225.3(SLC39A13):c.919+20_919+32del
|
|
|
|
NM_001128225.3(SLC39A13):c.919+5G>A
|
|
|
|
NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=)
|
|
|
|
NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)
|
|
|
|
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)
|
|
|
|
NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=)
|
|
|
|
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)
|
rs2096226168
|
|
|
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs)
|
rs1554327284
|
|
|
NM_001129.5(AEBP1):c.1470del (p.Asn490fs)
|
rs1554327449
|
|
|
NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)
|
|
|
|
NM_001129.5(AEBP1):c.2117A>T (p.Asn706Ile)
|
|
|
|
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)
|
rs2096232673
|
|
|
NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp)
|
rs913206509
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NM_001129.5(AEBP1):c.821del (p.Pro274fs)
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NM_001129.5(AEBP1):c.863-37dup
|
rs58863562
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NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs)
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rs1554803622
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NM_001365276.1:c.(?_8144)_(9109_?)del
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NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs)
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rs755541448
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NM_001365276.2(TNXB):c.10636_10647dup (p.Glu3549_Ala3550insLeuAlaProGlu)
|
rs1776786308
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NM_001365276.2(TNXB):c.11349G>A (p.Ala3783=)
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rs769074772
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NM_001365276.2(TNXB):c.11925+2T>A
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NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)
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NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)
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rs6457479
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NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)
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NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro)
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rs2151880909
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NM_001365276.2(TNXB):c.12220C>T (p.Arg4074Cys)
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rs587777682
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NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)
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rs201510617
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NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)
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NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn)
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rs200523717
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NM_001365276.2(TNXB):c.12525dup (p.Asn4176fs)
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rs2151879527
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NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn)
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rs199953230
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NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del)
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rs2127289918
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NM_001365276.2(TNXB):c.1327G>A (p.Gly443Arg)
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rs1179577875
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NM_001365276.2(TNXB):c.1446G>A (p.Met482Ile)
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rs1378870044
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NM_001365276.2(TNXB):c.1606G>T (p.Gly536Cys)
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rs372158274
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NM_001365276.2(TNXB):c.1785C>G (p.Ser595Arg)
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NM_001365276.2(TNXB):c.1806C>A (p.Asp602Glu)
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NM_001365276.2(TNXB):c.1834G>T (p.Val612Leu)
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rs368085612
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NM_001365276.2(TNXB):c.210G>A (p.Gln70=)
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rs2127294286
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NM_001365276.2(TNXB):c.2116_2117dup (p.Val706_Glu707insTer)
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rs144556766
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NM_001365276.2(TNXB):c.2301_2309del (p.Glu768_Thr770del)
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NM_001365276.2(TNXB):c.2516-17_2516-15del
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rs199775035
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NM_001365276.2(TNXB):c.2521G>A (p.Asp841Asn)
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NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg)
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rs1187997184
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NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter)
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rs748223125
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NM_001365276.2(TNXB):c.2747T>C (p.Val916Ala)
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rs2127272436
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NM_001365276.2(TNXB):c.285C>T (p.Val95=)
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rs2127294131
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NM_001365276.2(TNXB):c.287T>A (p.Leu96His)
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rs1780503217
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NM_001365276.2(TNXB):c.31A>T (p.Ser11Cys)
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NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs)
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rs764070148
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NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg)
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rs762130701
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NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
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NM_001365276.2(TNXB):c.3908del (p.Gln1303fs)
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NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs)
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rs2127254498
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NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His)
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rs61735731
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NM_001365276.2(TNXB):c.4111G>A (p.Glu1371Lys)
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NM_001365276.2(TNXB):c.4168C>G (p.Leu1390Val)
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NM_001365276.2(TNXB):c.4220A>G (p.Lys1407Arg)
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NM_001365276.2(TNXB):c.4290A>G (p.Leu1430=)
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rs2127248387
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NM_001365276.2(TNXB):c.4831T>C (p.Tyr1611His)
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rs1778812721
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NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met)
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rs372387718
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NM_001365276.2(TNXB):c.4883G>A (p.Arg1628Gln)
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rs778225485
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NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln)
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rs772454700
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NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro)
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rs2127293388
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NM_001365276.2(TNXB):c.5336G>A (p.Gly1779Glu)
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NM_001365276.2(TNXB):c.5362del (p.Thr1788fs)
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rs1778646780
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NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu)
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rs181025235
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NM_001365276.2(TNXB):c.5585C>T (p.Thr1862Ile)
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rs2151915881
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NM_001365276.2(TNXB):c.5645C>T (p.Pro1882Leu)
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NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr)
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rs1030656217
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NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr)
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rs1778570345
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NM_001365276.2(TNXB):c.5902+9T>C
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rs1159883762
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NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile)
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NM_001365276.2(TNXB):c.6320C>G (p.Ser2107Cys)
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rs1554321787
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NM_001365276.2(TNXB):c.6378C>T (p.Thr2126=)
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rs536003119
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NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
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NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val)
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rs1016095149
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NM_001365276.2(TNXB):c.6902C>A (p.Pro2301His)
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rs2269428
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NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
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rs140304758
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NM_001365276.2(TNXB):c.706C>T (p.Arg236Trp)
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rs763079484
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NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys)
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rs764295837
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NM_001365276.2(TNXB):c.7168+1G>T
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rs748759848
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NM_001365276.2(TNXB):c.7338G>C (p.Lys2446Asn)
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rs2151907242
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NM_001365276.2(TNXB):c.7534C>A (p.Pro2512Thr)
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rs775958640
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NM_001365276.2(TNXB):c.8192C>T (p.Pro2731Leu)
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rs440160
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NM_001365276.2(TNXB):c.8247del (p.Asp2750fs)
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rs2151900685
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NM_001365276.2(TNXB):c.8326C>T (p.Arg2776Trp)
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NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys)
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rs759929653
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NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg)
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rs61745355
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NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)
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rs61745355
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NM_001365276.2(TNXB):c.861G>A (p.Arg287=)
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rs1406340228
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NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr)
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rs149492184
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NM_001365276.2(TNXB):c.8865G>A (p.Leu2955=)
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rs745510765
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NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln)
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rs61729739
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NM_001365276.2(TNXB):c.9226C>T (p.Leu3076Phe)
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NM_001365276.2(TNXB):c.9440-12_9440-10del
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rs199828189
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NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val)
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rs2151892576
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NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs)
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rs2151892569
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NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter)
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rs2151892548
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NM_001365276.2(TNXB):c.9664G>C (p.Gly3222Arg)
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NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs)
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rs773500008
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NM_001365276.2(TNXB):c.9970C>T (p.Arg3324Cys)
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rs768943895
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NM_001367624.2(ZNF469):c.*1323G>A
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rs780254370
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NM_001367624.2(ZNF469):c.*1348G>A
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rs886052428
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NM_001367624.2(ZNF469):c.*491T>C
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rs557906701
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NM_001367624.2(ZNF469):c.*547G>T
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rs370886541
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NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3]
|
rs6145934
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NM_001367624.2(ZNF469):c.*618T>G
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rs3859020
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NM_001367624.2(ZNF469):c.*870del
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rs35684712
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NM_001367624.2(ZNF469):c.*879T>C
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rs886052426
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NM_001367624.2(ZNF469):c.*932A>G
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rs886052427
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NM_001367624.2(ZNF469):c.10003C>T (p.Pro3335Ser)
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rs1252058328
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NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr)
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rs387907062
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NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
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NM_001367624.2(ZNF469):c.10199C>G (p.Pro3400Arg)
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rs281165933
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NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)
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rs281165933
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NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
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rs199528724
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NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met)
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rs199528724
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NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser)
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rs56236932
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NM_001367624.2(ZNF469):c.10326G>T (p.Arg3442Ser)
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rs56236932
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NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala)
|
rs140056980
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NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val)
|
rs140056980
|
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NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val)
|
rs530393871
|
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NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs)
|
rs764470052
|
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NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)
|
rs1429918039
|
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NM_001367624.2(ZNF469):c.10480C>G (p.Arg3494Gly)
|
rs921811959
|
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NM_001367624.2(ZNF469):c.10539G>A (p.Ser3513=)
|
rs759998900
|
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NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=)
|
rs763317477
|
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NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=)
|
rs78022634
|
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NM_001367624.2(ZNF469):c.1065C>A (p.Leu355=)
|
rs748505843
|
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NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)
|
rs11648572
|
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NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
|
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NM_001367624.2(ZNF469):c.1081del (p.Ala361fs)
|
rs1905872842
|
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NM_001367624.2(ZNF469):c.10929A>C (p.Leu3643=)
|
rs1906756953
|
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NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn)
|
rs967698954
|
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NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=)
|
rs886052419
|
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NM_001367624.2(ZNF469):c.11262C>T (p.Ser3754=)
|
rs769834740
|
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NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln)
|
rs141042464
|
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NM_001367624.2(ZNF469):c.11482A>C (p.Ser3828Arg)
|
rs1293536070
|
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NM_001367624.2(ZNF469):c.11529G>C (p.Lys3843Asn)
|
rs1567517914
|
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NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly)
|
rs886052420
|
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NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg)
|
rs529322092
|
|
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NM_001367624.2(ZNF469):c.11715C>G (p.Pro3905=)
|
rs969384437
|
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NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro)
|
rs1555520642
|
|
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NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile)
|
rs766057875
|
|
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NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr)
|
rs886052388
|
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|
NM_001367624.2(ZNF469):c.1444del (p.Leu482fs)
|
rs1484586294
|
|
|
NM_001367624.2(ZNF469):c.1477C>G (p.Pro493Ala)
|
rs2142299586
|
|
|
NM_001367624.2(ZNF469):c.1483C>G (p.Pro495Ala)
|
rs202205643
|
|
|
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser)
|
rs755555951
|
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|
NM_001367624.2(ZNF469):c.1586del (p.Gly529fs)
|
rs1905923050
|
|
|
NM_001367624.2(ZNF469):c.1708G>C (p.Val570Leu)
|
rs1905933453
|
|
|
NM_001367624.2(ZNF469):c.1808G>A (p.Ser603Asn)
|
rs2142300284
|
|
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NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
|
|
|
|
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=)
|
rs539996728
|
|
|
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys)
|
rs886052394
|
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
|
NM_001367624.2(ZNF469):c.2150del (p.Phe717fs)
|
|
|
|
NM_001367624.2(ZNF469):c.2163C>T (p.Ser721=)
|
rs538121526
|
|
|
NM_001367624.2(ZNF469):c.2332G>T (p.Ala778Ser)
|
rs761152033
|
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
|
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del)
|
rs113102840
|
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
|
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val)
|
rs550198026
|
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
|
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
|
|
|
|
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg)
|
rs770061832
|
|
|
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del)
|
rs886052397
|
|
|
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser)
|
rs886052400
|
|
|
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
|
|
|
|
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp)
|
rs886052401
|
|
|
NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter)
|
rs1906110243
|
|
|
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)
|
rs568046708
|
|
|
NM_001367624.2(ZNF469):c.3384G>A (p.Gln1128=)
|
rs2142303932
|
|
|
NM_001367624.2(ZNF469):c.3478G>C (p.Gly1160Arg)
|
rs1011775158
|
|
|
NM_001367624.2(ZNF469):c.3580C>G (p.Arg1194Gly)
|
rs1428087312
|
|
|
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg)
|
rs1597208940
|
|
|
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=)
|
rs572061351
|
|
|
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn)
|
rs886052403
|
|
|
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
|
|
|
|
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr)
|
rs886052404
|
|
|
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter)
|
rs387907063
|
|
|
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
|
|
|
|
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr)
|
rs273585620
|
|
|
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del)
|
rs555544144
|
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
|
NM_001367624.2(ZNF469):c.4661T>C (p.Met1554Thr)
|
rs766157054
|
|
|
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg)
|
rs544832628
|
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
|
NM_001367624.2(ZNF469):c.5340C>T (p.Pro1780=)
|
rs184374078
|
|
|
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
|
|
|
|
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser)
|
rs778548266
|
|
|
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
|
|
|
|
NM_001367624.2(ZNF469):c.567C>T (p.Ser189=)
|
rs1309619067
|
|
|
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg)
|
rs2142308428
|
|
|
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=)
|
rs201666199
|
|
|
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=)
|
rs201666199
|
|
|
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val)
|
rs886052406
|
|
|
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs)
|
rs1597210953
|
|
|
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu)
|
rs886052407
|
|
|
NM_001367624.2(ZNF469):c.6053T>C (p.Val2018Ala)
|
rs2142308775
|
|
|
NM_001367624.2(ZNF469):c.6199G>C (p.Ala2067Pro)
|
rs2142308978
|
|
|
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=)
|
rs548774131
|
|
|
NM_001367624.2(ZNF469):c.6436_6441dup (p.Gly2147_Gly2148insLeuGly)
|
rs903153275
|
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
|
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=)
|
rs12919507
|
|
|
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del)
|
rs1215843229
|
|
|
NM_001367624.2(ZNF469):c.6984G>C (p.Ser2328=)
|
rs764025593
|
|
|
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=)
|
rs886052391
|
|
|
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
|
|
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
|
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=)
|
rs781553869
|
|
|
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3])
|
rs1905840452
|
|
|
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
|
|
|
|
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr)
|
rs886052411
|
|
|
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu)
|
rs912981227
|
|
|
NM_001367624.2(ZNF469):c.8049A>G (p.Gly2683=)
|
rs1448750061
|
|
|
NM_001367624.2(ZNF469):c.8081G>C (p.Arg2694Pro)
|
rs889719149
|
|
|
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp)
|
rs773262065
|
|
|
NM_001367624.2(ZNF469):c.834G>A (p.Pro278=)
|
rs544693811
|
|
|
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)
|
rs1172315984
|
|
|
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)
|
rs2142312393
|
|
|
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn)
|
rs985304000
|
|
|
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly)
|
rs1457868844
|
|
|
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)
|
rs386794006
|
|
|
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His)
|
rs142753357
|
|
|
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu)
|
rs142753357
|
|
|
NM_001367624.2(ZNF469):c.8806G>T (p.Glu2936Ter)
|
rs762301873
|
|
|
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu)
|
rs886052414
|
|
|
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=)
|
rs886052415
|
|
|
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del)
|
rs281865162
|
|
|
NM_001367624.2(ZNF469):c.9120G>A (p.Pro3040=)
|
rs534910156
|
|
|
NM_001367624.2(ZNF469):c.9122T>C (p.Leu3041Pro)
|
rs1906595696
|
|
|
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)
|
rs764139968
|
|
|
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His)
|
rs536601676
|
|
|
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro)
|
rs1906626370
|
|
|
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs)
|
rs2142314304
|
|
|
NM_001367624.2(ZNF469):c.9817C>T (p.Pro3273Ser)
|
rs1906656468
|
|
|
NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)
|
rs1906662179
|
|
|
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn)
|
rs1285839120
|
|
|
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)
|
rs1057519577
|
|
|
NM_001733.7(C1R):c.1073G>A (p.Cys358Tyr)
|
|
|
|
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe)
|
rs1057518645
|
|
|
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)
|
rs1057519578
|
|
|
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)
|
rs1057519579
|
|
|
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)
|
rs1057519580
|
|
|
NM_001733.7(C1R):c.1202G>A (p.Arg401His)
|
|
|
|
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)
|
rs1060499554
|
|
|
NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs)
|
rs1938056582
|
|
|
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)
|
rs1057519025
|
|
|
NM_001733.7(C1R):c.203C>T (p.Ser68Phe)
|
|
|
|
NM_001733.7(C1R):c.231+6G>A
|
|
|
|
NM_001733.7(C1R):c.265T>C (p.Cys89Arg)
|
rs1938242419
|
|
|
NM_001733.7(C1R):c.419C>T (p.Ala140Val)
|
|
|
|
NM_001733.7(C1R):c.424+2T>C
|
|
|
|
NM_001733.7(C1R):c.450C>A (p.Ser150Arg)
|
|
|
|
NM_001733.7(C1R):c.542A>G (p.Glu181Gly)
|
|
|
|
NM_001733.7(C1R):c.646C>A (p.Pro216Thr)
|
rs367700816
|
|
|
NM_001733.7(C1R):c.646C>G (p.Pro216Ala)
|
rs367700816
|
|
|
NM_001733.7(C1R):c.869A>G (p.Asp290Gly)
|
rs1057518643
|
|
|
NM_001733.7(C1R):c.890G>A (p.Gly297Asp)
|
rs1057519026
|
|
|
NM_001733.7(C1R):c.899T>C (p.Leu300Pro)
|
rs1057515579
|
|
|
NM_001733.7(C1R):c.902G>C (p.Arg301Pro)
|
rs760277934
|
|
|
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)
|
rs1057519576
|
|
|
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)
|
rs1057518646
|
|
|
NM_001733.7(C1R):c.927C>G (p.Cys309Trp)
|
rs769707492
|
|
|
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)
|
|
|
|
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)
|
rs150549869
|
|
|
NM_001734.5(C1S):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001734.5(C1S):c.380A>G (p.Tyr127Cys)
|
|
|
|
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
|
|
|
|
NM_001734.5(C1S):c.809T>C (p.Ile270Thr)
|
|
|
|
NM_001734.5(C1S):c.880T>C (p.Cys294Arg)
|
rs886040975
|
|
|
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)
|
rs886040974
|
|
|
NM_001999.4(FBN2):c.143G>T (p.Arg48Leu)
|
rs779831723
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
|
NM_001999.4(FBN2):c.1543T>C (p.Ser515Pro)
|
rs528255772
|
|
|
NM_001999.4(FBN2):c.1723+1G>T
|
rs2126960067
|
|
|
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)
|
rs869025430
|
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
|
NM_001999.4(FBN2):c.3272A>G (p.Asn1091Ser)
|
rs2126912169
|
|
|
NM_001999.4(FBN2):c.3456G>C (p.Met1152Ile)
|
rs863223565
|
|
|
NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg)
|
rs1554123060
|
|
|
NM_001999.4(FBN2):c.3848-10G>A
|
rs140017238
|
|
|
NM_001999.4(FBN2):c.4122T>G (p.Gly1374=)
|
rs2126892175
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
|
NM_001999.4(FBN2):c.5801-5T>G
|
rs571282132
|
|
|
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)
|
rs755672868
|
|
|
NM_001999.4(FBN2):c.595G>A (p.Val199Ile)
|
rs1561495409
|
|
|
NM_001999.4(FBN2):c.6046+10T>C
|
rs1179452976
|
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
|
NM_001999.4(FBN2):c.7012+7G>C
|
rs199735209
|
|
|
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)
|
rs1765463264
|
|
|
NM_001999.4(FBN2):c.7938C>G (p.His2646Gln)
|
rs886038837
|
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
|
NM_001999.4(FBN2):c.8098T>C (p.Ser2700Pro)
|
rs1160756542
|
|
|
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp)
|
rs776788539
|
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
|
NM_003238.6(TGFB2):c.1041del (p.Gly348fs)
|
rs2102630133
|
|
|
NM_003238.6(TGFB2):c.254G>A (p.Arg85Lys)
|
rs2102527749
|
|
|
NM_003238.6(TGFB2):c.988C>G (p.Leu330Val)
|
rs2102630064
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly)
|
rs104893810
|
|
|
NM_003242.6(TGFBR2):c.363C>A (p.Cys121Ter)
|
rs2125410317
|
|
|
NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser)
|
rs1553630181
|
|
|
NM_003247.5(THBS2):c.2686T>C (p.Cys896Arg)
|
|
|
|
NM_003309.4(TSPYL1):c.523GTG[3] (p.Val176_Lys177insVal)
|
rs56100880
|
|
|
NM_004370.5(COL12A1):c.7356del
|
rs1473576494
|
|
|
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
|
|
|
|
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr)
|
rs2149467566
|
|
|
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
|
|
|
|
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His)
|
rs1769481285
|
|
|
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=)
|
|
|
|
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
|
|
|
|
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn)
|
rs1562297952
|
|
|
NM_004370.6(COL12A1):c.1059T>C (p.Asn353=)
|
|
|
|
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
|
|
|
|
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met)
|
rs2149467444
|
|
|
NM_004370.6(COL12A1):c.108A>C (p.Ile36=)
|
|
|
|
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=)
|
rs2149467427
|
|
|
NM_004370.6(COL12A1):c.10A>C (p.Arg4=)
|
|
|
|
NM_004370.6(COL12A1):c.1101C>A (p.Ile367=)
|
|
|
|
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
|
|
|
|
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile)
|
rs1253680957
|
|
|
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln)
|
rs2149467365
|
|
|
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=)
|
rs575544133
|
|
|
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1127G>A (p.Arg376Gln)
|
|
|
|
NM_004370.6(COL12A1):c.1131G>A (p.Gln377=)
|
|
|
|
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr)
|
rs779083996
|
|
|
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
|
|
|
|
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=)
|
rs2149467274
|
|
|
NM_004370.6(COL12A1):c.1149G>A (p.Gly383=)
|
|
|
|
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
|
|
|
|
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala)
|
rs1582198440
|
|
|
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=)
|
rs2149467222
|
|
|
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys)
|
rs201657256
|
|
|
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1170T>C (p.Ser390=)
|
|
|
|
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val)
|
rs1032545730
|
|
|
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=)
|
rs763051678
|
|
|
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter)
|
rs2149467117
|
|
|
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val)
|
rs1582198261
|
|
|
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn)
|
|
|
|
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr)
|
rs1325717704
|
|
|
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu)
|
rs775157077
|
|
|
NM_004370.6(COL12A1):c.1243C>T (p.Pro415Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=)
|
rs2149467023
|
|
|
NM_004370.6(COL12A1):c.125A>G (p.His42Arg)
|
rs760445921
|
|
|
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn)
|
rs2149466995
|
|
|
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val)
|
rs2149466974
|
|
|
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu)
|
rs1562297194
|
|
|
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn)
|
rs1769466109
|
|
|
NM_004370.6(COL12A1):c.1288+12T>G
|
|
|
|
NM_004370.6(COL12A1):c.1288+15G>A
|
|
|
|
NM_004370.6(COL12A1):c.1288+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.1289-13T>G
|
|
|
|
NM_004370.6(COL12A1):c.1289-15T>C
|
rs2149466614
|
|
|
NM_004370.6(COL12A1):c.1289-17T>A
|
|
|
|
NM_004370.6(COL12A1):c.1289-19A>G
|
|
|
|
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu)
|
rs1769450841
|
|
|
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)
|
|
|
|
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met)
|
rs1769449076
|
|
|
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)
|
|
|
|
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=)
|
|
|
|
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
|
|
|
|
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=)
|
|
|
|
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=)
|
rs372285460
|
|
|
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
|
|
|
|
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
|
|
|
|
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1383C>G (p.Ala461=)
|
|
|
|
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=)
|
rs2149466384
|
|
|
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val)
|
rs2149466346
|
|
|
NM_004370.6(COL12A1):c.141A>G (p.Lys47=)
|
rs2149482731
|
|
|
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
|
|
|
|
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=)
|
rs762385473
|
|
|
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
|
|
|
|
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=)
|
rs533536940
|
|
|
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln)
|
rs779234808
|
|
|
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val)
|
rs1769434215
|
|
|
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=)
|
|
|
|
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=)
|
rs777711709
|
|
|
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=)
|
rs777711709
|
|
|
NM_004370.6(COL12A1):c.1494C>T (p.Thr498=)
|
|
|
|
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
|
|
|
|
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys)
|
rs2149466133
|
|
|
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
|
|
|
|
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg)
|
rs2149466076
|
|
|
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=)
|
|
|
|
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=)
|
|
|
|
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
|
|
|
|
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=)
|
|
|
|
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
|
|
|
|
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr)
|
rs1770137078
|
|
|
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=)
|
rs2149466030
|
|
|
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu)
|
rs774728500
|
|
|
NM_004370.6(COL12A1):c.1566A>G (p.Ala522=)
|
|
|
|
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
|
|
|
|
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=)
|
rs1003898953
|
|
|
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
|
|
|
|
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=)
|
|
|
|
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)
|
|
|
|
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn)
|
rs2149465941
|
|
|
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=)
|
|
|
|
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met)
|
rs1769421436
|
|
|
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp)
|
rs1769421051
|
|
|
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
|
|
|
|
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
|
|
|
|
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met)
|
rs557804521
|
|
|
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=)
|
rs761187970
|
|
|
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly)
|
rs2149465853
|
|
|
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=)
|
rs2149465844
|
|
|
NM_004370.6(COL12A1):c.1659A>G (p.Ser553=)
|
|
|
|
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly)
|
rs1002113974
|
|
|
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu)
|
rs2149465802
|
|
|
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=)
|
rs2149465802
|
|
|
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser)
|
rs775466928
|
|
|
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu)
|
rs2149465788
|
|
|
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
|
|
|
|
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val)
|
rs1344964508
|
|
|
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
|
|
|
|
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
|
|
|
|
NM_004370.6(COL12A1):c.1707T>C (p.Val569=)
|
|
|
|
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=)
|
|
|
|
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=)
|
|
|
|
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn)
|
rs2149465694
|
|
|
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr)
|
rs2149465694
|
|
|
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)
|
|
|
|
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
|
|
|
|
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met)
|
rs140583215
|
|
|
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
|
|
|
|
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=)
|
|
|
|
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
|
|
|
|
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala)
|
rs1770135564
|
|
|
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
|
|
|
|
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1785T>C (p.His595=)
|
rs2149465524
|
|
|
NM_004370.6(COL12A1):c.1788G>A (p.Val596=)
|
|
|
|
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
|
|
|
|
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1839A>G (p.Thr613=)
|
|
|
|
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=)
|
rs1484924756
|
|
|
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg)
|
rs779409298
|
|
|
NM_004370.6(COL12A1):c.1860T>C (p.Ile620=)
|
|
|
|
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly)
|
rs1356178155
|
|
|
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met)
|
rs962496340
|
|
|
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
|
|
|
|
NM_004370.6(COL12A1):c.1891+13T>C
|
|
|
|
NM_004370.6(COL12A1):c.1891+14G>A
|
|
|
|
NM_004370.6(COL12A1):c.1891+17A>G
|
|
|
|
NM_004370.6(COL12A1):c.1891+4A>C
|
rs148292262
|
|
|
NM_004370.6(COL12A1):c.1891+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr)
|
rs952803259
|
|
|
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser)
|
rs952803259
|
|
|
NM_004370.6(COL12A1):c.1892-14_1892-13insA
|
|
|
|
NM_004370.6(COL12A1):c.1892-19_1892-18dup
|
rs11347601
|
|
|
NM_004370.6(COL12A1):c.1892-19dup
|
rs11347601
|
|
|
NM_004370.6(COL12A1):c.1892-6_1892-5insG
|
rs752652515
|
|
|
NM_004370.6(COL12A1):c.1892-6_1892-5insT
|
rs752652515
|
|
|
NM_004370.6(COL12A1):c.1892-6dup
|
rs753233369
|
|
|
NM_004370.6(COL12A1):c.1892-7T>C
|
rs779185109
|
|
|
NM_004370.6(COL12A1):c.1892-7del
|
rs11347601
|
|
|
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT
|
rs560088357
|
|
|
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
|
|
|
|
NM_004370.6(COL12A1):c.190+11A>G
|
|
|
|
NM_004370.6(COL12A1):c.190+18G>A
|
|
|
|
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=)
|
|
|
|
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
|
|
|
|
NM_004370.6(COL12A1):c.191-16C>A
|
rs2149479283
|
|
|
NM_004370.6(COL12A1):c.191-8A>G
|
|
|
|
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=)
|
rs2149462302
|
|
|
NM_004370.6(COL12A1):c.1921del (p.Ser641fs)
|
rs2149462293
|
|
|
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala)
|
rs1769262393
|
|
|
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=)
|
rs2149462277
|
|
|
NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn)
|
|
|
|
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)
|
|
|
|
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
|
|
|
|
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu)
|
rs2149479257
|
|
|
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
|
|
|
|
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala)
|
rs2149462234
|
|
|
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs)
|
rs1769258754
|
|
|
NM_004370.6(COL12A1):c.198T>C (p.Pro66=)
|
|
|
|
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val)
|
rs1769258112
|
|
|
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys)
|
rs2149462161
|
|
|
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser)
|
rs1769255982
|
|
|
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn)
|
rs1233438359
|
|
|
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=)
|
rs1582191777
|
|
|
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala)
|
rs1562290248
|
|
|
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr)
|
rs371321756
|
|
|
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=)
|
rs1039108581
|
|
|
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2061T>C (p.Val687=)
|
|
|
|
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
|
|
|
|
NM_004370.6(COL12A1):c.207A>G (p.Glu69=)
|
rs2149479234
|
|
|
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=)
|
rs2149461949
|
|
|
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
|
|
|
|
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=)
|
rs2149461922
|
|
|
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn)
|
rs2149461916
|
|
|
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
|
|
|
|
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val)
|
rs2149461913
|
|
|
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val)
|
rs773755693
|
|
|
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2145A>G (p.Gly715=)
|
|
|
|
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
|
|
|
|
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro)
|
rs1562315490
|
|
|
NM_004370.6(COL12A1):c.2164+6A>G
|
rs746467248
|
|
|
NM_004370.6(COL12A1):c.2164+8G>C
|
|
|
|
NM_004370.6(COL12A1):c.2165-4T>C
|
|
|
|
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=)
|
|
|
|
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)
|
rs984509796
|
|
|
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser)
|
rs984509796
|
|
|
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu)
|
rs1341300538
|
|
|
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr)
|
rs1769052023
|
|
|
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala)
|
rs1769051365
|
|
|
NM_004370.6(COL12A1):c.2205T>G (p.Thr735=)
|
|
|
|
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr)
|
rs750973541
|
|
|
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys)
|
rs2149457038
|
|
|
NM_004370.6(COL12A1):c.2225C>G (p.Thr742Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)
|
|
|
|
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter)
|
rs1554186583
|
|
|
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=)
|
rs2149456961
|
|
|
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
|
|
|
|
NM_004370.6(COL12A1):c.2260C>A (p.Arg754=)
|
|
|
|
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter)
|
rs1034315777
|
|
|
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val)
|
rs1769044982
|
|
|
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=)
|
rs982309132
|
|
|
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe)
|
rs2149456891
|
|
|
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
|
|
|
|
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
|
|
|
|
NM_004370.6(COL12A1):c.228C>T (p.Thr76=)
|
rs1432448789
|
|
|
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=)
|
rs2149456858
|
|
|
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala)
|
rs2149456824
|
|
|
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
|
|
|
|
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp)
|
rs2149456727
|
|
|
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu)
|
rs2149456708
|
|
|
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=)
|
|
|
|
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=)
|
|
|
|
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=)
|
rs750671040
|
|
|
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile)
|
rs1769035606
|
|
|
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr)
|
rs772493333
|
|
|
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
|
|
|
|
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val)
|
|
|
|
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp)
|
rs1769033719
|
|
|
NM_004370.6(COL12A1):c.2437+18A>G
|
|
|
|
NM_004370.6(COL12A1):c.2437+6G>A
|
rs1769033413
|
|
|
NM_004370.6(COL12A1):c.2438-11T>C
|
|
|
|
NM_004370.6(COL12A1):c.2438-14A>C
|
|
|
|
NM_004370.6(COL12A1):c.2438-20G>A
|
|
|
|
NM_004370.6(COL12A1):c.2438-5T>C
|
rs1768879542
|
|
|
NM_004370.6(COL12A1):c.2438-8dup
|
rs1032205753
|
|
|
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
|
|
|
|
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
|
|
|
|
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys)
|
rs371428645
|
|
|
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
|
|
|
|
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=)
|
|
|
|
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly)
|
rs1768877676
|
|
|
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala)
|
rs1194621615
|
|
|
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val)
|
rs1489423171
|
|
|
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2506G>C (p.Gly836Arg)
|
|
|
|
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu)
|
rs2149452205
|
|
|
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu)
|
rs2149452194
|
|
|
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu)
|
rs2149452186
|
|
|
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=)
|
rs374489011
|
|
|
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=)
|
rs372378385
|
|
|
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=)
|
rs775341470
|
|
|
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn)
|
rs559028883
|
|
|
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=)
|
|
|
|
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
|
|
|
|
NM_004370.6(COL12A1):c.2561del (p.Gly854fs)
|
rs1582179372
|
|
|
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val)
|
rs2149452026
|
|
|
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
|
|
|
|
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=)
|
rs554348257
|
|
|
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=)
|
rs554348257
|
|
|
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met)
|
rs764066205
|
|
|
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu)
|
rs764066205
|
|
|
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=)
|
rs2149451975
|
|
|
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=)
|
rs2149451941
|
|
|
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala)
|
rs1277353575
|
|
|
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
|
|
|
|
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
|
|
|
|
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu)
|
rs777386471
|
|
|
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val)
|
rs777386471
|
|
|
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala)
|
rs1278211393
|
|
|
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
|
|
|
|
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg)
|
rs2149451801
|
|
|
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
|
|
|
|
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=)
|
rs1554186131
|
|
|
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp)
|
rs1768851120
|
|
|
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=)
|
rs1554186125
|
|
|
NM_004370.6(COL12A1):c.2710+17_2710+18insTA
|
|
|
|
NM_004370.6(COL12A1):c.2710+7A>G
|
rs969629618
|
|
|
NM_004370.6(COL12A1):c.2710+8C>A
|
|
|
|
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA
|
rs2149451710
|
|
|
NM_004370.6(COL12A1):c.2711-15dup
|
|
|
|
NM_004370.6(COL12A1):c.2711-5T>G
|
|
|
|
NM_004370.6(COL12A1):c.2711-9C>A
|
rs2149439017
|
|
|
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro)
|
rs369193482
|
|
|
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
|
|
|
|
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
|
|
|
|
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=)
|
|
|
|
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
|
|
|
|
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr)
|
rs1768261723
|
|
|
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
|
|
|
|
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=)
|
rs1768261405
|
|
|
NM_004370.6(COL12A1):c.2766G>T (p.Gly922=)
|
|
|
|
NM_004370.6(COL12A1):c.2787A>G (p.Pro929=)
|
|
|
|
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile)
|
rs1768259480
|
|
|
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
|
|
|
|
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His)
|
rs779848906
|
|
|
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs)
|
rs2149492561
|
|
|
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2808G>A (p.Arg936=)
|
|
|
|
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
|
|
|
|
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=)
|
|
|
|
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro)
|
rs2149438769
|
|
|
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
|
|
|
|
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=)
|
rs375540397
|
|
|
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu)
|
rs1253194188
|
|
|
NM_004370.6(COL12A1):c.2856T>C (p.Asn952=)
|
|
|
|
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=)
|
rs930413173
|
|
|
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=)
|
|
|
|
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu)
|
rs1236232001
|
|
|
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu)
|
rs370815575
|
|
|
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
|
|
|
|
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=)
|
|
|
|
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=)
|
|
|
|
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
|
|
|
|
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly)
|
rs1768252416
|
|
|
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
|
|
|
|
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
|
|
|
|
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
|
|
|
|
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del)
|
rs1768250668
|
|
|
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His)
|
rs752812483
|
|
|
NM_004370.6(COL12A1):c.2966G>C (p.Gly989Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
|
|
|
|
NM_004370.6(COL12A1):c.2976A>C (p.Thr992=)
|
|
|
|
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=)
|
rs1768247192
|
|
|
NM_004370.6(COL12A1):c.2983+11T>C
|
|
|
|
NM_004370.6(COL12A1):c.2983+12_2983+14del
|
|
|
|
NM_004370.6(COL12A1):c.2983+17G>A
|
|
|
|
NM_004370.6(COL12A1):c.2983+1G>T
|
|
|
|
NM_004370.6(COL12A1):c.2983+2T>G
|
|
|
|
NM_004370.6(COL12A1):c.2983+3A>C
|
|
|
|
NM_004370.6(COL12A1):c.2983+3del
|
|
|
|
NM_004370.6(COL12A1):c.2984-18C>A
|
|
|
|
NM_004370.6(COL12A1):c.2984-18C>G
|
|
|
|
NM_004370.6(COL12A1):c.2984-7C>T
|
|
|
|
NM_004370.6(COL12A1):c.2984-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe)
|
rs1582147328
|
|
|
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys)
|
rs1767775935
|
|
|
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr)
|
rs1767775644
|
|
|
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
|
|
|
|
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu)
|
rs1562335715
|
|
|
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala)
|
rs1767774122
|
|
|
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=)
|
rs753423916
|
|
|
NM_004370.6(COL12A1):c.3066A>G (p.Lys1022=)
|
|
|
|
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)
|
rs200985706
|
|
|
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile)
|
rs1582147115
|
|
|
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala)
|
rs1582147110
|
|
|
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys)
|
rs2149424485
|
|
|
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser)
|
rs575168916
|
|
|
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
|
|
|
|
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg)
|
rs2149424441
|
|
|
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile)
|
rs1767764943
|
|
|
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr)
|
rs1767764412
|
|
|
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
|
|
|
|
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly)
|
rs2149424377
|
|
|
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=)
|
rs1582146956
|
|
|
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu)
|
rs772210650
|
|
|
NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=)
|
|
|
|
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter)
|
rs868543538
|
|
|
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)
|
rs577784031
|
|
|
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)
|
|
|
|
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=)
|
|
|
|
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
|
|
|
|
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3193G>A (p.Val1065Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys)
|
rs2149424189
|
|
|
NM_004370.6(COL12A1):c.3228T>C (p.Leu1076=)
|
|
|
|
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
|
|
|
|
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3250+16T>G
|
rs1554183547
|
|
|
NM_004370.6(COL12A1):c.3250+7AAT[2]
|
rs778868677
|
|
|
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3251-8C>T
|
rs754632351
|
|
|
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
|
|
|
|
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
|
|
|
|
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
|
|
|
|
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu)
|
rs2149423356
|
|
|
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys)
|
rs1767727217
|
|
|
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
|
|
|
|
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3279C>A (p.Leu1093=)
|
|
|
|
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe)
|
rs2149423302
|
|
|
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
|
|
|
|
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
|
|
|
|
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn)
|
rs2149423269
|
|
|
NM_004370.6(COL12A1):c.330A>G (p.Leu110=)
|
rs2149479020
|
|
|
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln)
|
rs2149423255
|
|
|
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp)
|
rs1767721141
|
|
|
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala)
|
rs1272550670
|
|
|
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His)
|
rs2149423214
|
|
|
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
|
|
|
|
NM_004370.6(COL12A1):c.334+13A>T
|
rs991483498
|
|
|
NM_004370.6(COL12A1):c.334+18del
|
rs2149478980
|
|
|
NM_004370.6(COL12A1):c.334+4A>T
|
rs1769967046
|
|
|
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met)
|
rs2149423183
|
|
|
NM_004370.6(COL12A1):c.335-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.335-1G>C
|
rs779800232
|
|
|
NM_004370.6(COL12A1):c.335-22TAA[2]
|
|
|
|
NM_004370.6(COL12A1):c.335-8del
|
rs2149478420
|
|
|
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys)
|
rs1582145759
|
|
|
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=)
|
rs776878636
|
|
|
NM_004370.6(COL12A1):c.3366C>T (p.His1122=)
|
rs2149423139
|
|
|
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
|
|
|
|
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=)
|
rs749287034
|
|
|
NM_004370.6(COL12A1):c.3372G>C (p.Thr1124=)
|
|
|
|
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp)
|
rs1420617553
|
|
|
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
|
|
|
|
NM_004370.6(COL12A1):c.33C>G (p.Ala11=)
|
rs1770596486
|
|
|
NM_004370.6(COL12A1):c.33C>T (p.Ala11=)
|
rs1770596486
|
|
|
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
|
|
|
|
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
|
|
|
|
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=)
|
rs752420015
|
|
|
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
|
|
|
|
NM_004370.6(COL12A1):c.342A>G (p.Thr114=)
|
rs2149478404
|
|
|
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=)
|
|
|
|
NM_004370.6(COL12A1):c.3443+20G>A
|
|
|
|
NM_004370.6(COL12A1):c.3444-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.3444-17A>G
|
|
|
|
NM_004370.6(COL12A1):c.3444-19A>G
|
|
|
|
NM_004370.6(COL12A1):c.3444-6T>G
|
|
|
|
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
|
|
|
|
NM_004370.6(COL12A1):c.3453C>A (p.Thr1151=)
|
|
|
|
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)
|
rs764153192
|
|
|
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile)
|
rs759294983
|
|
|
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=)
|
|
|
|
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala)
|
rs770692332
|
|
|
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
|
|
|
|
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
|
|
|
|
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)
|
rs1767653671
|
|
|
NM_004370.6(COL12A1):c.351G>T (p.Ser117=)
|
|
|
|
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=)
|
|
|
|
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=)
|
|
|
|
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=)
|
|
|
|
NM_004370.6(COL12A1):c.3561T>A (p.Ser1187=)
|
rs1582143439
|
|
|
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro)
|
rs1190415160
|
|
|
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
|
|
|
|
NM_004370.6(COL12A1):c.3565+11G>A
|
|
|
|
NM_004370.6(COL12A1):c.3565+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.3566-15T>C
|
|
|
|
NM_004370.6(COL12A1):c.3566-19C>G
|
|
|
|
NM_004370.6(COL12A1):c.3566-5G>A
|
rs2149417897
|
|
|
NM_004370.6(COL12A1):c.3566-6T>C
|
|
|
|
NM_004370.6(COL12A1):c.3566-7A>G
|
|
|
|
NM_004370.6(COL12A1):c.3566-8C>G
|
rs201709757
|
|
|
NM_004370.6(COL12A1):c.3566-8C>T
|
|
|
|
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln)
|
rs775382202
|
|
|
NM_004370.6(COL12A1):c.3646A>C (p.Arg1216=)
|
|
|
|
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn)
|
rs1436778165
|
|
|
NM_004370.6(COL12A1):c.366G>A (p.Glu122=)
|
|
|
|
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val)
|
rs1449618151
|
|
|
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
|
|
|
|
NM_004370.6(COL12A1):c.36G>A (p.Leu12=)
|
|
|
|
NM_004370.6(COL12A1):c.36G>T (p.Leu12=)
|
|
|
|
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
|
|
|
|
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr)
|
rs2149417585
|
|
|
NM_004370.6(COL12A1):c.3715+17T>C
|
|
|
|
NM_004370.6(COL12A1):c.3715+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.3715+1G>T
|
|
|
|
NM_004370.6(COL12A1):c.3716-10G>T
|
|
|
|
NM_004370.6(COL12A1):c.3716-20T>C
|
rs1176638204
|
|
|
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
|
|
|
|
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn)
|
rs1582139804
|
|
|
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)
|
rs1582139761
|
|
|
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
|
|
|
|
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
|
|
|
|
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu)
|
rs199692759
|
|
|
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)
|
rs375043994
|
|
|
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu)
|
rs375043994
|
|
|
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)
|
|
|
|
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
|
|
|
|
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
|
|
|
|
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
|
|
|
|
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)
|
|
|
|
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu)
|
rs1562233846
|
|
|
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
|
|
|
|
NM_004370.6(COL12A1):c.3835+18G>A
|
|
|
|
NM_004370.6(COL12A1):c.3835+3_3835+6del
|
|
|
|
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys)
|
rs1387157172
|
|
|
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=)
|
|
|
|
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu)
|
rs1489541121
|
|
|
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly)
|
rs1231394496
|
|
|
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr)
|
rs376766442
|
|
|
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
|
|
|
|
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr)
|
rs1769938135
|
|
|
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
|
|
|
|
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
|
|
|
|
NM_004370.6(COL12A1):c.390A>T (p.Ile130=)
|
|
|
|
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
|
|
|
|
NM_004370.6(COL12A1):c.3918C>T (p.Leu1306=)
|
|
|
|
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
|
|
|
|
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=)
|
|
|
|
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg)
|
rs1260669878
|
|
|
NM_004370.6(COL12A1):c.393A>C (p.Gln131His)
|
rs1769937627
|
|
|
NM_004370.6(COL12A1):c.394+11C>T
|
|
|
|
NM_004370.6(COL12A1):c.394+16A>G
|
|
|
|
NM_004370.6(COL12A1):c.394+16A>T
|
|
|
|
NM_004370.6(COL12A1):c.394+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.394+3G>A
|
|
|
|
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu)
|
rs570245614
|
|
|
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=)
|
rs570245614
|
|
|
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
|
|
|
|
NM_004370.6(COL12A1):c.395-19G>C
|
|
|
|
NM_004370.6(COL12A1):c.395-19G>T
|
|
|
|
NM_004370.6(COL12A1):c.395-2A>C
|
rs1562310723
|
|
|
NM_004370.6(COL12A1):c.395-9G>A
|
|
|
|
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=)
|
|
|
|
NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=)
|
|
|
|
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs)
|
rs1554182935
|
|
|
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val)
|
rs557573017
|
|
|
NM_004370.6(COL12A1):c.4000+14A>G
|
|
|
|
NM_004370.6(COL12A1):c.4000+15G>T
|
|
|
|
NM_004370.6(COL12A1):c.4000+18C>T
|
|
|
|
NM_004370.6(COL12A1):c.4000+4C>T
|
rs375772555
|
|
|
NM_004370.6(COL12A1):c.4001-11C>A
|
|
|
|
NM_004370.6(COL12A1):c.4001-6T>C
|
|
|
|
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
|
|
|
|
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=)
|
rs1425739513
|
|
|
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe)
|
rs1554182853
|
|
|
NM_004370.6(COL12A1):c.4010A>T (p.Asn1337Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
|
|
|
|
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=)
|
rs1582137847
|
|
|
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=)
|
rs2149415478
|
|
|
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val)
|
rs2149415452
|
|
|
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
|
|
|
|
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala)
|
rs1335085130
|
|
|
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
|
|
|
|
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
|
|
|
|
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4050T>C (p.Pro1350=)
|
|
|
|
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn)
|
rs1767469659
|
|
|
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn)
|
rs913180274
|
|
|
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser)
|
rs913180274
|
|
|
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=)
|
rs992754948
|
|
|
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser)
|
rs1562230954
|
|
|
NM_004370.6(COL12A1):c.4086G>A (p.Glu1362=)
|
|
|
|
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
|
|
|
|
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=)
|
|
|
|
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met)
|
rs745813975
|
|
|
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly)
|
rs2149415249
|
|
|
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile)
|
rs2149415231
|
|
|
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val)
|
rs2149415217
|
|
|
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser)
|
rs1268978531
|
|
|
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys)
|
rs1405840866
|
|
|
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn)
|
rs1033092764
|
|
|
NM_004370.6(COL12A1):c.4147+17G>A
|
|
|
|
NM_004370.6(COL12A1):c.4147+3A>G
|
|
|
|
NM_004370.6(COL12A1):c.4147+4A>T
|
|
|
|
NM_004370.6(COL12A1):c.4148-15dup
|
rs1227725033
|
|
|
NM_004370.6(COL12A1):c.4148-20C>A
|
rs1767317341
|
|
|
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr)
|
rs2149410743
|
|
|
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del)
|
rs1767315080
|
|
|
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs)
|
rs1582133194
|
|
|
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val)
|
rs1582133150
|
|
|
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
|
rs1767314344
|
|
|
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
|
|
|
|
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
|
|
|
|
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser)
|
rs1767312990
|
|
|
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=)
|
rs754233830
|
|
|
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val)
|
|
|
|
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=)
|
rs2149410580
|
|
|
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)
|
|
|
|
NM_004370.6(COL12A1):c.423G>A (p.Leu141=)
|
rs755912419
|
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
|
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
|
|
|
|
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)
|
|
|
|
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
|
|
|
|
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp)
|
rs758640189
|
|
|
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
|
|
|
|
NM_004370.6(COL12A1):c.4263A>G (p.Pro1421=)
|
|
|
|
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=)
|
rs2149410457
|
|
|
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
|
|
|
|
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser)
|
rs779038394
|
|
|
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=)
|
|
|
|
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)
|
|
|
|
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=)
|
rs1767306131
|
|
|
NM_004370.6(COL12A1):c.4287+11A>G
|
|
|
|
NM_004370.6(COL12A1):c.4287+14C>A
|
|
|
|
NM_004370.6(COL12A1):c.4287+15C>G
|
|
|
|
NM_004370.6(COL12A1):c.4287+4A>T
|
rs1767305838
|
|
|
NM_004370.6(COL12A1):c.4288-10T>C
|
rs776440408
|
|
|
NM_004370.6(COL12A1):c.4288-14A>G
|
|
|
|
NM_004370.6(COL12A1):c.4288-15A>G
|
rs2149409487
|
|
|
NM_004370.6(COL12A1):c.4288-19G>C
|
rs1554182346
|
|
|
NM_004370.6(COL12A1):c.4288-6C>G
|
|
|
|
NM_004370.6(COL12A1):c.4288-9T>C
|
rs1582131968
|
|
|
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=)
|
rs2149409419
|
|
|
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
|
|
|
|
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=)
|
rs975876036
|
|
|
NM_004370.6(COL12A1):c.42G>C (p.Ala14=)
|
|
|
|
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)
|
rs1562223444
|
|
|
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln)
|
rs779064060
|
|
|
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu)
|
rs779064060
|
|
|
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn)
|
rs889393418
|
|
|
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu)
|
rs1767273965
|
|
|
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)
|
|
|
|
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
|
|
|
|
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=)
|
rs2149409308
|
|
|
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=)
|
|
|
|
NM_004370.6(COL12A1):c.433G>A (p.Val145Met)
|
|
|
|
NM_004370.6(COL12A1):c.4347A>G (p.Glu1449=)
|
|
|
|
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=)
|
|
|
|
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys)
|
rs1582131685
|
|
|
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr)
|
rs1394611159
|
|
|
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=)
|
|
|
|
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys)
|
rs897954123
|
|
|
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=)
|
rs2149409171
|
|
|
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4401G>A (p.Lys1467=)
|
|
|
|
NM_004370.6(COL12A1):c.4404G>A (p.Gly1468=)
|
|
|
|
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
|
rs1767268002
|
|
|
NM_004370.6(COL12A1):c.4417+2_4417+3del
|
|
|
|
NM_004370.6(COL12A1):c.4417+4A>G
|
rs2149409130
|
|
|
NM_004370.6(COL12A1):c.4417+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.4417+9G>A
|
|
|
|
NM_004370.6(COL12A1):c.4418-18G>C
|
|
|
|
NM_004370.6(COL12A1):c.4418-20C>G
|
rs2149407223
|
|
|
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=)
|
|
|
|
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
|
|
|
|
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=)
|
rs558383133
|
|
|
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile)
|
rs1767188215
|
|
|
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile)
|
rs1246887485
|
|
|
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
|
|
|
|
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr)
|
rs760640025
|
|
|
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
|
|
|
|
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=)
|
|
|
|
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn)
|
rs771864984
|
|
|
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=)
|
rs763276220
|
|
|
NM_004370.6(COL12A1):c.4467C>G (p.Thr1489=)
|
|
|
|
NM_004370.6(COL12A1):c.4473T>C (p.His1491=)
|
|
|
|
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=)
|
rs2149407078
|
|
|
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
|
|
|
|
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
|
|
|
|
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
|
|
|
|
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=)
|
rs199901074
|
|
|
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val)
|
rs1582129070
|
|
|
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4518A>C (p.Ser1506=)
|
|
|
|
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys)
|
rs1767180643
|
|
|
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4560+14G>A
|
|
|
|
NM_004370.6(COL12A1):c.4560+8A>G
|
|
|
|
NM_004370.6(COL12A1):c.4561-18C>T
|
|
|
|
NM_004370.6(COL12A1):c.4561-6G>A
|
rs560550352
|
|
|
NM_004370.6(COL12A1):c.4561-7T>C
|
|
|
|
NM_004370.6(COL12A1):c.4561-7_4561-2del
|
rs1582127639
|
|
|
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly)
|
rs574863380
|
|
|
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)
|
rs574863380
|
|
|
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu)
|
rs556742432
|
|
|
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=)
|
rs1767129736
|
|
|
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4578A>G (p.Thr1526=)
|
|
|
|
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met)
|
rs1326246352
|
|
|
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly)
|
rs2149475927
|
|
|
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=)
|
rs762128925
|
|
|
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu)
|
rs1226808307
|
|
|
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys)
|
rs1767128506
|
|
|
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr)
|
rs1767128506
|
|
|
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
|
|
|
|
NM_004370.6(COL12A1):c.459A>G (p.Arg153=)
|
|
|
|
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
|
|
|
|
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser)
|
rs1028650601
|
|
|
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
|
|
|
|
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys)
|
rs373216375
|
|
|
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=)
|
|
|
|
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp)
|
rs367865394
|
|
|
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
|
|
|
|
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=)
|
|
|
|
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln)
|
rs754993978
|
|
|
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)
|
|
|
|
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=)
|
rs2149405550
|
|
|
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
|
|
|
|
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=)
|
|
|
|
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=)
|
rs1767121915
|
|
|
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala)
|
rs1562217199
|
|
|
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
|
|
|
|
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
|
|
|
|
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=)
|
rs1767120492
|
|
|
NM_004370.6(COL12A1):c.4690+17T>C
|
|
|
|
NM_004370.6(COL12A1):c.4690+19T>C
|
|
|
|
NM_004370.6(COL12A1):c.4690+5G>A
|
rs1767120188
|
|
|
NM_004370.6(COL12A1):c.4690+9C>T
|
|
|
|
NM_004370.6(COL12A1):c.4691-13C>G
|
|
|
|
NM_004370.6(COL12A1):c.4691-13C>T
|
|
|
|
NM_004370.6(COL12A1):c.4691-16T>G
|
rs750281471
|
|
|
NM_004370.6(COL12A1):c.4691-20A>C
|
|
|
|
NM_004370.6(COL12A1):c.4691-8T>A
|
|
|
|
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser)
|
rs1554181762
|
|
|
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser)
|
rs2149402848
|
|
|
NM_004370.6(COL12A1):c.46C>T (p.Leu16=)
|
|
|
|
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=)
|
rs17791238
|
|
|
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=)
|
rs17791238
|
|
|
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly)
|
rs1767009455
|
|
|
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
|
|
|
|
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly)
|
rs1490798316
|
|
|
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
|
|
|
|
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val)
|
rs548978005
|
|
|
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=)
|
|
|
|
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
|
|
|
|
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro)
|
rs373006852
|
|
|
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
|
|
|
|
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=)
|
rs1361287372
|
|
|
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
|
|
|
|
NM_004370.6(COL12A1):c.4827+12A>G
|
|
|
|
NM_004370.6(COL12A1):c.4827+16T>G
|
|
|
|
NM_004370.6(COL12A1):c.4827+3A>G
|
|
|
|
NM_004370.6(COL12A1):c.4828-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.4828-4A>G
|
|
|
|
NM_004370.6(COL12A1):c.4828-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
|
|
|
|
NM_004370.6(COL12A1):c.483C>T (p.Asp161=)
|
rs1769829163
|
|
|
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro)
|
rs750511139
|
|
|
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=)
|
|
|
|
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile)
|
rs765702033
|
|
|
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
|
|
|
|
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
|
|
|
|
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile)
|
rs368180489
|
|
|
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His)
|
rs759038011
|
|
|
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
|
|
|
|
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser)
|
rs773883741
|
|
|
NM_004370.6(COL12A1):c.4898G>A (p.Ser1633Asn)
|
|
|
|
NM_004370.6(COL12A1):c.489T>C (p.Ile163=)
|
|
|
|
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
|
|
|
|
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
|
|
|
|
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)
|
|
|
|
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=)
|
|
|
|
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=)
|
|
|
|
NM_004370.6(COL12A1):c.4954_4957+2dup
|
|
|
|
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
|
|
|
|
NM_004370.6(COL12A1):c.4957+11_4957+12inv
|
|
|
|
NM_004370.6(COL12A1):c.4958-16C>T
|
|
|
|
NM_004370.6(COL12A1):c.4958-4A>T
|
|
|
|
NM_004370.6(COL12A1):c.4958-7A>G
|
rs1332779
|
|
|
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp)
|
rs1766760179
|
|
|
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
|
|
|
|
NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)
|
|
|
|
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
|
|
|
|
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp)
|
rs1582115930
|
|
|
NM_004370.6(COL12A1):c.5010T>G (p.Gly1670=)
|
|
|
|
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu)
|
rs1766757762
|
|
|
NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)
|
|
|
|
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala)
|
rs2149475862
|
|
|
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser)
|
rs550455854
|
|
|
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5040A>G (p.Ser1680=)
|
|
|
|
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5049T>C (p.Ser1683=)
|
|
|
|
NM_004370.6(COL12A1):c.504T>G (p.Ser168=)
|
rs371436873
|
|
|
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr)
|
rs749443694
|
|
|
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys)
|
rs1369964113
|
|
|
NM_004370.6(COL12A1):c.5097+11C>A
|
|
|
|
NM_004370.6(COL12A1):c.5097+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.5097+20T>G
|
|
|
|
NM_004370.6(COL12A1):c.5097+6T>A
|
|
|
|
NM_004370.6(COL12A1):c.5098-10T>C
|
rs968352189
|
|
|
NM_004370.6(COL12A1):c.5098-17T>C
|
|
|
|
NM_004370.6(COL12A1):c.5098-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.5109T>C (p.Asn1703=)
|
|
|
|
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
|
|
|
|
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
|
|
|
|
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val)
|
rs2149475842
|
|
|
NM_004370.6(COL12A1):c.5147C>T (p.Pro1716Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=)
|
rs1766737359
|
|
|
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn)
|
rs1766737229
|
|
|
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)
|
rs750726658
|
|
|
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)
|
rs762021815
|
|
|
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=)
|
|
|
|
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val)
|
rs769221057
|
|
|
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser)
|
rs530680231
|
|
|
NM_004370.6(COL12A1):c.5230+12G>A
|
|
|
|
NM_004370.6(COL12A1):c.5230+17C>T
|
|
|
|
NM_004370.6(COL12A1):c.5230+20A>C
|
|
|
|
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
|
|
|
|
NM_004370.6(COL12A1):c.5231-8T>C
|
rs1766724577
|
|
|
NM_004370.6(COL12A1):c.5231-9_5231-8del
|
|
|
|
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=)
|
rs979503995
|
|
|
NM_004370.6(COL12A1):c.5247A>G (p.Thr1749=)
|
|
|
|
NM_004370.6(COL12A1):c.5252-11T>C
|
|
|
|
NM_004370.6(COL12A1):c.5252-14C>T
|
|
|
|
NM_004370.6(COL12A1):c.5252-7C>A
|
|
|
|
NM_004370.6(COL12A1):c.5256C>G (p.Pro1752=)
|
|
|
|
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
|
|
|
|
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
|
|
|
|
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=)
|
|
|
|
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
|
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
|
|
|
|
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=)
|
rs2149394288
|
|
|
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr)
|
rs2149394273
|
|
|
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro)
|
rs748487098
|
|
|
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met)
|
rs1766678485
|
|
|
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=)
|
|
|
|
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
|
|
|
|
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
|
|
|
|
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu)
|
rs1766675850
|
|
|
NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=)
|
|
|
|
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=)
|
rs2149394158
|
|
|
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser)
|
rs2149394149
|
|
|
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys)
|
rs370767331
|
|
|
NM_004370.6(COL12A1):c.5394+10dup
|
|
|
|
NM_004370.6(COL12A1):c.5394+14A>G
|
|
|
|
NM_004370.6(COL12A1):c.5394+15A>C
|
|
|
|
NM_004370.6(COL12A1):c.5394+5T>G
|
|
|
|
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
|
|
|
|
NM_004370.6(COL12A1):c.5395-10T>C
|
|
|
|
NM_004370.6(COL12A1):c.5395-14C>G
|
|
|
|
NM_004370.6(COL12A1):c.5395-17G>A
|
|
|
|
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=)
|
rs1470703983
|
|
|
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
|
|
|
|
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu)
|
rs754812998
|
|
|
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=)
|
|
|
|
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
|
|
|
|
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile)
|
rs1769824140
|
|
|
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=)
|
|
|
|
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=)
|
rs1003584679
|
|
|
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
|
|
|
|
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=)
|
rs373978519
|
|
|
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)
|
rs201408175
|
|
|
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
|
|
|
|
NM_004370.6(COL12A1):c.546T>G (p.Val182=)
|
rs764254293
|
|
|
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=)
|
rs766269568
|
|
|
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly)
|
rs1419443025
|
|
|
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=)
|
rs1582107388
|
|
|
NM_004370.6(COL12A1):c.549A>G (p.Gln183=)
|
|
|
|
NM_004370.6(COL12A1):c.54del (p.Ser19fs)
|
|
|
|
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly)
|
rs775456254
|
|
|
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp)
|
|
|
|
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys)
|
rs374927144
|
|
|
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup)
|
rs1766496347
|
|
|
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val)
|
rs2149389596
|
|
|
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
|
|
|
|
NM_004370.6(COL12A1):c.5524+10A>G
|
|
|
|
NM_004370.6(COL12A1):c.5524+13T>G
|
|
|
|
NM_004370.6(COL12A1):c.5525-11G>A
|
|
|
|
NM_004370.6(COL12A1):c.5525-18G>T
|
|
|
|
NM_004370.6(COL12A1):c.5525-20G>A
|
|
|
|
NM_004370.6(COL12A1):c.5525-6T>A
|
|
|
|
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys)
|
rs1769823295
|
|
|
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys)
|
rs1235141094
|
|
|
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn)
|
rs2149475753
|
|
|
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu)
|
rs543663005
|
|
|
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=)
|
|
|
|
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser)
|
rs1160822324
|
|
|
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
|
|
|
|
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
|
|
|
|
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu)
|
rs377417661
|
|
|
NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val)
|
|
|
|
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val)
|
rs1370422060
|
|
|
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=)
|
rs2149388082
|
|
|
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly)
|
rs773807635
|
|
|
NM_004370.6(COL12A1):c.561T>C (p.Asp187=)
|
|
|
|
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
|
|
|
|
NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln)
|
rs1242897212
|
|
|
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys)
|
rs1766437313
|
|
|
NM_004370.6(COL12A1):c.5662C>T (p.Leu1888=)
|
|
|
|
NM_004370.6(COL12A1):c.5664+16_5664+35del
|
rs1333051927
|
|
|
NM_004370.6(COL12A1):c.5664+1G>A
|
rs1766437216
|
|
|
NM_004370.6(COL12A1):c.5664+3A>G
|
rs2149387981
|
|
|
NM_004370.6(COL12A1):c.5665-19G>A
|
rs903881382
|
|
|
NM_004370.6(COL12A1):c.5665-4T>C
|
|
|
|
NM_004370.6(COL12A1):c.5665-6C>A
|
|
|
|
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=)
|
|
|
|
NM_004370.6(COL12A1):c.567G>A (p.Arg189=)
|
|
|
|
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser)
|
rs2149387327
|
|
|
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr)
|
rs2149387306
|
|
|
NM_004370.6(COL12A1):c.5694C>T (p.Ala1898=)
|
|
|
|
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser)
|
rs1766408982
|
|
|
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=)
|
rs1582103755
|
|
|
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=)
|
|
|
|
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
|
|
|
|
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=)
|
|
|
|
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=)
|
rs780813171
|
|
|
NM_004370.6(COL12A1):c.5751T>C (p.Tyr1917=)
|
|
|
|
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala)
|
rs1766405494
|
|
|
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val)
|
rs2149387143
|
|
|
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn)
|
rs1766404958
|
|
|
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu)
|
rs1766404539
|
|
|
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5790G>A (p.Arg1930=)
|
|
|
|
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser)
|
rs2149387040
|
|
|
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=)
|
rs199632288
|
|
|
NM_004370.6(COL12A1):c.5794+13G>A
|
|
|
|
NM_004370.6(COL12A1):c.5794+17A>G
|
|
|
|
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
|
|
|
|
NM_004370.6(COL12A1):c.5795-16G>A
|
|
|
|
NM_004370.6(COL12A1):c.5795-2A>C
|
|
|
|
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly)
|
rs1474687066
|
|
|
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)
|
rs1562184031
|
|
|
NM_004370.6(COL12A1):c.580T>C (p.Leu194=)
|
rs2149475695
|
|
|
NM_004370.6(COL12A1):c.5817T>C (p.Asn1939=)
|
|
|
|
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)
|
|
|
|
NM_004370.6(COL12A1):c.5826A>G (p.Val1942=)
|
|
|
|
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
|
|
|
|
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile)
|
rs2149385416
|
|
|
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser)
|
rs191233787
|
|
|
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu)
|
rs768626277
|
|
|
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
|
|
|
|
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn)
|
rs771175230
|
|
|
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly)
|
rs1766324604
|
|
|
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)
|
|
|
|
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn)
|
rs2149385355
|
|
|
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr)
|
rs2149385355
|
|
|
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
|
|
|
|
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=)
|
rs594012
|
|
|
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met)
|
rs536233725
|
|
|
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
|
|
|
|
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
|
|
|
|
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys)
|
rs920578725
|
|
|
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)
|
rs200487396
|
|
|
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
|
|
|
|
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met)
|
|
|
|
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
|
|
|
|
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro)
|
rs2149385256
|
|
|
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
|
|
|
|
NM_004370.6(COL12A1):c.5937+14T>A
|
rs2149385207
|
|
|
NM_004370.6(COL12A1):c.5937+17T>C
|
rs1023564287
|
|
|
NM_004370.6(COL12A1):c.5938-9C>G
|
|
|
|
NM_004370.6(COL12A1):c.5938-9C>T
|
rs1166562974
|
|
|
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
|
|
|
|
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del)
|
rs1766274789
|
|
|
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=)
|
|
|
|
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=)
|
rs770005423
|
|
|
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
|
|
|
|
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser)
|
rs373170333
|
|
|
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)
|
|
|
|
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
|
|
|
|
NM_004370.6(COL12A1):c.5967G>A (p.Val1989=)
|
|
|
|
NM_004370.6(COL12A1):c.5970T>C (p.His1990=)
|
|
|
|
NM_004370.6(COL12A1):c.5982G>A (p.Leu1994=)
|
|
|
|
NM_004370.6(COL12A1):c.5988G>A (p.Pro1996=)
|
|
|
|
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
|
|
|
|
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=)
|
|
|
|
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=)
|
rs111547439
|
|
|
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys)
|
rs1400789071
|
|
|
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln)
|
rs1265886692
|
|
|
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
|
|
|
|
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys)
|
rs1766270191
|
|
|
NM_004370.6(COL12A1):c.600G>A (p.Arg200=)
|
rs2149475654
|
|
|
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
|
|
|
|
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=)
|
|
|
|
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
|
|
|
|
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
|
|
|
|
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu)
|
rs1013402934
|
|
|
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=)
|
|
|
|
NM_004370.6(COL12A1):c.6060C>T (p.Gly2020=)
|
|
|
|
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
|
|
|
|
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser)
|
rs780638272
|
|
|
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met)
|
rs1766265495
|
|
|
NM_004370.6(COL12A1):c.6067+12A>G
|
|
|
|
NM_004370.6(COL12A1):c.6067+19C>A
|
|
|
|
NM_004370.6(COL12A1):c.6067+1G>A
|
rs1766265062
|
|
|
NM_004370.6(COL12A1):c.6068-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.6068-16T>C
|
|
|
|
NM_004370.6(COL12A1):c.6068-20A>G
|
|
|
|
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
|
|
|
|
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=)
|
|
|
|
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=)
|
rs909100621
|
|
|
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)
|
|
|
|
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
|
|
|
|
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
|
|
|
|
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
|
rs767845062
|
|
|
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
|
|
|
|
NM_004370.6(COL12A1):c.6126G>A (p.Ser2042=)
|
|
|
|
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg)
|
rs569212577
|
|
|
NM_004370.6(COL12A1):c.6144T>A (p.Ala2048=)
|
|
|
|
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu)
|
rs200777154
|
|
|
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
|
|
|
|
NM_004370.6(COL12A1):c.6158A>G (p.Gln2053Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)
|
|
|
|
NM_004370.6(COL12A1):c.6171C>T (p.Ile2057=)
|
|
|
|
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr)
|
rs1766227819
|
|
|
NM_004370.6(COL12A1):c.6210+10A>T
|
|
|
|
NM_004370.6(COL12A1):c.6210+16A>G
|
|
|
|
NM_004370.6(COL12A1):c.6210+17T>C
|
|
|
|
NM_004370.6(COL12A1):c.6210+20A>T
|
rs377223538
|
|
|
NM_004370.6(COL12A1):c.6211-10T>A
|
|
|
|
NM_004370.6(COL12A1):c.6211-19A>C
|
|
|
|
NM_004370.6(COL12A1):c.6211-6C>G
|
|
|
|
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser)
|
rs1253942397
|
|
|
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys)
|
rs769518059
|
|
|
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
|
|
|
|
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg)
|
rs2149475605
|
|
|
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met)
|
rs1766123299
|
|
|
NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=)
|
|
|
|
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=)
|
|
|
|
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
|
|
|
|
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn)
|
rs1403624483
|
|
|
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=)
|
|
|
|
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
|
|
|
|
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=)
|
rs2149379927
|
|
|
NM_004370.6(COL12A1):c.6312T>C (p.Gly2104=)
|
|
|
|
NM_004370.6(COL12A1):c.6318T>C (p.His2106=)
|
|
|
|
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg)
|
rs1766116749
|
|
|
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=)
|
rs1766115548
|
|
|
NM_004370.6(COL12A1):c.6340+12G>C
|
|
|
|
NM_004370.6(COL12A1):c.6340+14A>G
|
|
|
|
NM_004370.6(COL12A1):c.6341-9T>A
|
rs1562169801
|
|
|
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg)
|
rs1766019017
|
|
|
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)
|
rs1424010902
|
|
|
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=)
|
rs371734128
|
|
|
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu)
|
rs1769818108
|
|
|
NM_004370.6(COL12A1):c.6382T>C (p.Trp2128Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys)
|
rs1402262599
|
|
|
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
|
|
|
|
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val)
|
rs1582209053
|
|
|
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr)
|
rs1766015017
|
|
|
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=)
|
rs757397618
|
|
|
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu)
|
rs1277921609
|
|
|
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys)
|
rs1469571574
|
|
|
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
|
|
|
|
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6460+10_6460+11dup
|
rs2149377067
|
|
|
NM_004370.6(COL12A1):c.6460+6G>A
|
|
|
|
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
|
|
|
|
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser)
|
rs1582089703
|
|
|
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu)
|
rs1582089675
|
|
|
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr)
|
rs920759306
|
|
|
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser)
|
rs2149475535
|
|
|
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys)
|
rs2149375589
|
|
|
NM_004370.6(COL12A1):c.6501A>T (p.Thr2167=)
|
|
|
|
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
|
|
|
|
NM_004370.6(COL12A1):c.652A>G (p.Met218Val)
|
rs2149475531
|
|
|
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg)
|
rs756215547
|
|
|
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=)
|
rs1486712607
|
|
|
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)
|
rs1765951451
|
|
|
NM_004370.6(COL12A1):c.658+10A>G
|
rs2149475491
|
|
|
NM_004370.6(COL12A1):c.658+13G>A
|
|
|
|
NM_004370.6(COL12A1):c.658+13G>T
|
|
|
|
NM_004370.6(COL12A1):c.658+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
|
|
|
|
NM_004370.6(COL12A1):c.659-8C>T
|
|
|
|
NM_004370.6(COL12A1):c.6607+14A>T
|
|
|
|
NM_004370.6(COL12A1):c.6607+16T>A
|
|
|
|
NM_004370.6(COL12A1):c.6607+7C>T
|
|
|
|
NM_004370.6(COL12A1):c.6608-19T>C
|
rs2149374329
|
|
|
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=)
|
|
|
|
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
|
|
|
|
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
|
rs1765909471
|
|
|
NM_004370.6(COL12A1):c.6624A>G (p.Thr2208=)
|
|
|
|
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=)
|
|
|
|
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu)
|
rs773548520
|
|
|
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
|
|
|
|
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu)
|
rs761964344
|
|
|
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu)
|
rs1562164671
|
|
|
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser)
|
rs2149374223
|
|
|
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp)
|
rs759202641
|
|
|
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln)
|
rs1253362145
|
|
|
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile)
|
rs1257364285
|
|
|
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe)
|
rs1765905733
|
|
|
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=)
|
rs2149374132
|
|
|
NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=)
|
|
|
|
NM_004370.6(COL12A1):c.6724+11A>G
|
rs1398653047
|
|
|
NM_004370.6(COL12A1):c.6724+1G>C
|
|
|
|
NM_004370.6(COL12A1):c.6724+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.6725-14G>A
|
|
|
|
NM_004370.6(COL12A1):c.6725-16T>C
|
|
|
|
NM_004370.6(COL12A1):c.6725-18C>A
|
|
|
|
NM_004370.6(COL12A1):c.6725-6_6725-4del
|
rs2149373848
|
|
|
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=)
|
|
|
|
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)
|
rs746250737
|
|
|
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=)
|
rs1765889227
|
|
|
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg)
|
rs2149373796
|
|
|
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs)
|
rs2149373593
|
|
|
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
|
|
|
|
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys)
|
rs754290184
|
|
|
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=)
|
rs2149373749
|
|
|
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=)
|
rs1765886657
|
|
|
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr)
|
rs2149373719
|
|
|
NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln)
|
|
|
|
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala)
|
rs1765885022
|
|
|
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
|
|
|
|
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu)
|
rs1765882595
|
|
|
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs)
|
rs1765881602
|
|
|
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
|
|
|
|
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
|
|
|
|
NM_004370.6(COL12A1):c.6871+14G>A
|
|
|
|
NM_004370.6(COL12A1):c.6871+20G>T
|
|
|
|
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
|
|
|
|
NM_004370.6(COL12A1):c.6872-14T>C
|
|
|
|
NM_004370.6(COL12A1):c.6872-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.6872-2A>G
|
rs2149372690
|
|
|
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr)
|
rs1562162215
|
|
|
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys)
|
rs2149372645
|
|
|
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=)
|
rs1194108575
|
|
|
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg)
|
rs780038146
|
|
|
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr)
|
rs747966606
|
|
|
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
|
|
|
|
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del)
|
rs745810321
|
|
|
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu)
|
rs1765844509
|
|
|
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser)
|
rs1554171436
|
|
|
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg)
|
rs1302398240
|
|
|
NM_004370.6(COL12A1):c.6946+5G>A
|
rs1582086058
|
|
|
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA
|
rs2149372484
|
|
|
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu)
|
rs1765839616
|
|
|
NM_004370.6(COL12A1):c.6947-12C>T
|
|
|
|
NM_004370.6(COL12A1):c.6947-5T>C
|
|
|
|
NM_004370.6(COL12A1):c.6947-6T>G
|
rs200538799
|
|
|
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg)
|
rs200443479
|
|
|
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu)
|
rs1765724096
|
|
|
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=)
|
rs1364212431
|
|
|
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His)
|
rs1765722908
|
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
|
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr)
|
rs1400495680
|
|
|
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=)
|
rs2149369622
|
|
|
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7017T>C (p.Phe2339=)
|
|
|
|
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
|
|
|
|
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
|
|
|
|
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala)
|
rs778958906
|
|
|
NM_004370.6(COL12A1):c.7027G>A (p.Val2343Ile)
|
|
|
|
NM_004370.6(COL12A1):c.702T>C (p.Ser234=)
|
|
|
|
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=)
|
rs2149369561
|
|
|
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala)
|
rs1765717648
|
|
|
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile)
|
rs1231345150
|
|
|
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
|
|
|
|
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp)
|
rs1055080261
|
|
|
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=)
|
rs1055080261
|
|
|
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs)
|
rs2149369481
|
|
|
NM_004370.6(COL12A1):c.7086+10del
|
|
|
|
NM_004370.6(COL12A1):c.7086+15G>A
|
|
|
|
NM_004370.6(COL12A1):c.7086+20T>A
|
|
|
|
NM_004370.6(COL12A1):c.7086+4A>G
|
|
|
|
NM_004370.6(COL12A1):c.7087-11T>A
|
rs2149366872
|
|
|
NM_004370.6(COL12A1):c.7087-16del
|
|
|
|
NM_004370.6(COL12A1):c.7087-20C>T
|
|
|
|
NM_004370.6(COL12A1):c.7087-3C>T
|
rs1769248501
|
|
|
NM_004370.6(COL12A1):c.7087-5T>G
|
rs1410734553
|
|
|
NM_004370.6(COL12A1):c.7087-6C>T
|
|
|
|
NM_004370.6(COL12A1):c.7087-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
|
|
|
|
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val)
|
rs2149366807
|
|
|
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=)
|
rs2149366781
|
|
|
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
|
|
|
|
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr)
|
rs1554188387
|
|
|
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=)
|
rs2149366759
|
|
|
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=)
|
rs2149366746
|
|
|
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=)
|
rs2149366727
|
|
|
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
|
|
|
|
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
|
|
|
|
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser)
|
rs2149366659
|
|
|
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
|
|
|
|
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro)
|
rs1769243797
|
|
|
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7210+19C>G
|
rs747884107
|
|
|
NM_004370.6(COL12A1):c.7210+3dup
|
|
|
|
NM_004370.6(COL12A1):c.7210+7G>A
|
|
|
|
NM_004370.6(COL12A1):c.7211-11A>G
|
|
|
|
NM_004370.6(COL12A1):c.7211-16A>G
|
|
|
|
NM_004370.6(COL12A1):c.7211-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn)
|
rs568748031
|
|
|
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg)
|
rs141593495
|
|
|
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr)
|
rs1769231502
|
|
|
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=)
|
rs2149366384
|
|
|
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
|
|
|
|
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser)
|
rs1290886066
|
|
|
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val)
|
rs910431488
|
|
|
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly)
|
rs1769229174
|
|
|
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His)
|
rs1769228699
|
|
|
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
|
|
|
|
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)
|
|
|
|
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala)
|
rs1769227311
|
|
|
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met)
|
rs1769226903
|
|
|
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=)
|
rs35551395
|
|
|
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=)
|
rs35551395
|
|
|
NM_004370.6(COL12A1):c.73+16C>T
|
|
|
|
NM_004370.6(COL12A1):c.73+19C>T
|
|
|
|
NM_004370.6(COL12A1):c.73+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.73+8G>A
|
|
|
|
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser)
|
rs2149366214
|
|
|
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=)
|
rs2149366203
|
|
|
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)
|
|
|
|
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
|
|
|
|
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)
|
|
|
|
NM_004370.6(COL12A1):c.7355-11C>T
|
|
|
|
NM_004370.6(COL12A1):c.7355-17T>C
|
|
|
|
NM_004370.6(COL12A1):c.7355-18A>C
|
|
|
|
NM_004370.6(COL12A1):c.7355-19T>G
|
|
|
|
NM_004370.6(COL12A1):c.7355-4G>T
|
rs2149363736
|
|
|
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val)
|
rs1224729276
|
|
|
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=)
|
|
|
|
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7365C>T (p.Val2455=)
|
|
|
|
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile)
|
rs2149363695
|
|
|
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)
|
|
|
|
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=)
|
|
|
|
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=)
|
|
|
|
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
|
|
|
|
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
|
|
|
|
NM_004370.6(COL12A1):c.74-15CT[3]
|
rs756206757
|
|
|
NM_004370.6(COL12A1):c.74-18A>G
|
rs2149482912
|
|
|
NM_004370.6(COL12A1):c.74-2A>T
|
|
|
|
NM_004370.6(COL12A1):c.7401G>A (p.Glu2467=)
|
|
|
|
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
|
|
|
|
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val)
|
rs1769138600
|
|
|
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
|
|
|
|
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
|
|
|
|
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala)
|
rs1769137471
|
|
|
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
|
|
|
|
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=)
|
rs2149363505
|
|
|
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
|
|
|
|
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)
|
|
|
|
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
|
|
|
|
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu)
|
rs1470111741
|
|
|
NM_004370.6(COL12A1):c.7519+17A>G
|
rs2149363447
|
|
|
NM_004370.6(COL12A1):c.7519+18T>A
|
|
|
|
NM_004370.6(COL12A1):c.7519+6T>C
|
rs2149363457
|
|
|
NM_004370.6(COL12A1):c.7520-11G>A
|
|
|
|
NM_004370.6(COL12A1):c.7520-4G>A
|
|
|
|
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
|
|
|
|
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser)
|
rs1468041100
|
|
|
NM_004370.6(COL12A1):c.7558+17T>C
|
rs1323169221
|
|
|
NM_004370.6(COL12A1):c.7558+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.7559-6G>A
|
|
|
|
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=)
|
rs2149361484
|
|
|
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu)
|
rs1769053374
|
|
|
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser)
|
rs1168175119
|
|
|
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys)
|
rs2149361441
|
|
|
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
|
|
|
|
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
|
|
|
|
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser)
|
rs1769052516
|
|
|
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=)
|
rs778124838
|
|
|
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
|
|
|
|
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=)
|
rs2149361397
|
|
|
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala)
|
rs942074618
|
|
|
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=)
|
|
|
|
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
|
|
|
|
NM_004370.6(COL12A1):c.7637del (p.Ser2546fs)
|
|
|
|
NM_004370.6(COL12A1):c.765T>C (p.Asp255=)
|
rs2149475018
|
|
|
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
|
|
|
|
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)
|
rs1302611725
|
|
|
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)
|
|
|
|
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7697+18_7697+20del
|
|
|
|
NM_004370.6(COL12A1):c.7697+19G>A
|
|
|
|
NM_004370.6(COL12A1):c.7697+1G>C
|
|
|
|
NM_004370.6(COL12A1):c.7698-10T>C
|
|
|
|
NM_004370.6(COL12A1):c.7698-14G>T
|
|
|
|
NM_004370.6(COL12A1):c.7698-18_7698-15del
|
|
|
|
NM_004370.6(COL12A1):c.7698-19_7698-15del
|
rs141102808
|
|
|
NM_004370.6(COL12A1):c.7698-6C>T
|
rs1582070030
|
|
|
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=)
|
rs772064054
|
|
|
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=)
|
rs745685013
|
|
|
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His)
|
rs1364305836
|
|
|
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
|
|
|
|
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His)
|
rs1768945805
|
|
|
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys)
|
rs1312651383
|
|
|
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
|
|
|
|
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
|
|
|
|
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
|
|
|
|
NM_004370.6(COL12A1):c.7743A>G (p.Leu2581=)
|
|
|
|
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val)
|
rs375113182
|
|
|
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=)
|
rs1768943747
|
|
|
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala)
|
rs1768943469
|
|
|
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
|
|
|
|
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu)
|
rs1428757896
|
|
|
NM_004370.6(COL12A1):c.7840+1G>A
|
rs875989819
|
|
|
NM_004370.6(COL12A1):c.7840+9T>G
|
rs774128333
|
|
|
NM_004370.6(COL12A1):c.7841-18C>T
|
|
|
|
NM_004370.6(COL12A1):c.7841-3C>T
|
|
|
|
NM_004370.6(COL12A1):c.7841-4A>G
|
|
|
|
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu)
|
rs1194345062
|
|
|
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
|
|
|
|
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=)
|
rs190984968
|
|
|
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys)
|
rs1554188366
|
|
|
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=)
|
rs201337277
|
|
|
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)
|
|
|
|
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala)
|
rs1582069073
|
|
|
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
|
|
|
|
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=)
|
rs1015843320
|
|
|
NM_004370.6(COL12A1):c.789G>A (p.Glu263=)
|
rs2149474985
|
|
|
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu)
|
rs2149482865
|
|
|
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del)
|
rs1238774939
|
|
|
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs)
|
rs1582068925
|
|
|
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=)
|
|
|
|
NM_004370.6(COL12A1):c.7950+10_7950+11del
|
rs762026995
|
|
|
NM_004370.6(COL12A1):c.7950+5A>T
|
rs771300269
|
|
|
NM_004370.6(COL12A1):c.7951-14_7951-13del
|
rs745783404
|
|
|
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
|
|
|
|
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe)
|
rs1347122880
|
|
|
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.7970C>T (p.Ser2657Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7980T>C (p.Val2660=)
|
|
|
|
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln)
|
rs1768709126
|
|
|
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His)
|
rs1324430356
|
|
|
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys)
|
rs1770598850
|
|
|
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
|
|
|
|
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=)
|
|
|
|
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met)
|
rs536679905
|
|
|
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=)
|
rs2149353076
|
|
|
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
|
|
|
|
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met)
|
rs1167733175
|
|
|
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
|
|
|
|
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His)
|
rs2149353031
|
|
|
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=)
|
rs2149352990
|
|
|
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
|
|
|
|
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
|
|
|
|
NM_004370.6(COL12A1):c.8100+1G>C
|
|
|
|
NM_004370.6(COL12A1):c.8100+2T>C
|
rs1768702301
|
|
|
NM_004370.6(COL12A1):c.8100+2T>G
|
|
|
|
NM_004370.6(COL12A1):c.8100+3_8100+6del
|
rs2149352927
|
|
|
NM_004370.6(COL12A1):c.8100+4A>T
|
rs2149352934
|
|
|
NM_004370.6(COL12A1):c.8100+5G>T
|
|
|
|
NM_004370.6(COL12A1):c.8101-1G>T
|
rs2149349312
|
|
|
NM_004370.6(COL12A1):c.8108del (p.Ile2703fs)
|
|
|
|
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr)
|
rs1768551206
|
|
|
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
|
|
|
|
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn)
|
rs1768550579
|
|
|
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)
|
|
|
|
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
|
|
|
|
NM_004370.6(COL12A1):c.8136A>G (p.Pro2712=)
|
|
|
|
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
|
|
|
|
NM_004370.6(COL12A1):c.8178+16T>C
|
|
|
|
NM_004370.6(COL12A1):c.8178+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)
|
rs1768547356
|
|
|
NM_004370.6(COL12A1):c.8179-12T>C
|
|
|
|
NM_004370.6(COL12A1):c.8179-15T>C
|
|
|
|
NM_004370.6(COL12A1):c.8179-16C>A
|
|
|
|
NM_004370.6(COL12A1):c.8179-17T>G
|
|
|
|
NM_004370.6(COL12A1):c.8179-20T>C
|
|
|
|
NM_004370.6(COL12A1):c.8179-2A>G
|
rs1768495540
|
|
|
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
|
|
|
|
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg)
|
rs1768494060
|
|
|
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
|
|
|
|
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=)
|
|
|
|
NM_004370.6(COL12A1):c.823+15G>C
|
|
|
|
NM_004370.6(COL12A1):c.823+15G>T
|
|
|
|
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA
|
|
|
|
NM_004370.6(COL12A1):c.823+19A>G
|
|
|
|
NM_004370.6(COL12A1):c.823+4G>A
|
|
|
|
NM_004370.6(COL12A1):c.823+8A>C
|
rs1769795222
|
|
|
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
|
|
|
|
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=)
|
rs1582055336
|
|
|
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg)
|
|
|
|
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
|
|
|
|
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
|
|
|
|
NM_004370.6(COL12A1):c.824-10dup
|
|
|
|
NM_004370.6(COL12A1):c.824-20C>G
|
|
|
|
NM_004370.6(COL12A1):c.824-20C>T
|
rs369499035
|
|
|
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=)
|
|
|
|
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala)
|
rs1582055239
|
|
|
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr)
|
rs1768489455
|
|
|
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)
|
rs1768488927
|
|
|
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8265+11T>C
|
rs775543292
|
|
|
NM_004370.6(COL12A1):c.8265+1G>A
|
rs2149347624
|
|
|
NM_004370.6(COL12A1):c.8265+20T>A
|
|
|
|
NM_004370.6(COL12A1):c.8266-14T>A
|
|
|
|
NM_004370.6(COL12A1):c.8266-6T>G
|
|
|
|
NM_004370.6(COL12A1):c.8266-8T>A
|
|
|
|
NM_004370.6(COL12A1):c.8266-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp)
|
rs1554168599
|
|
|
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr)
|
rs1768418483
|
|
|
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
|
|
|
|
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr)
|
rs1473515166
|
|
|
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val)
|
rs1476228934
|
|
|
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val)
|
rs1254845133
|
|
|
NM_004370.6(COL12A1):c.8319+13del
|
|
|
|
NM_004370.6(COL12A1):c.8319+16_8319+17del
|
|
|
|
NM_004370.6(COL12A1):c.8319+17G>A
|
|
|
|
NM_004370.6(COL12A1):c.8319+1G>C
|
rs1768416586
|
|
|
NM_004370.6(COL12A1):c.8319+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.8320-12del
|
rs1436326715
|
|
|
NM_004370.6(COL12A1):c.8320-15_8379delinsCA
|
|
|
|
NM_004370.6(COL12A1):c.8320-16C>G
|
|
|
|
NM_004370.6(COL12A1):c.8320-9G>A
|
|
|
|
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp)
|
rs1768363255
|
|
|
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu)
|
rs1768363108
|
|
|
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
|
|
|
|
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys)
|
rs1768362148
|
|
|
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
|
|
|
|
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)
|
rs997353607
|
|
|
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu)
|
rs1160043441
|
|
|
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)
|
rs796052094
|
|
|
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)
|
|
|
|
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1])
|
rs1562116272
|
|
|
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)
|
rs1768359621
|
|
|
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
|
|
|
|
NM_004370.6(COL12A1):c.8366del (p.Gly2789fs)
|
|
|
|
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=)
|
|
|
|
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser)
|
rs1582050849
|
|
|
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp)
|
rs1768358751
|
|
|
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
|
rs1768358162
|
|
|
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg)
|
rs1582050802
|
|
|
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
|
|
|
|
NM_004370.6(COL12A1):c.8393_8415+5del
|
rs2149344192
|
|
|
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
|
|
|
|
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp)
|
rs1768356411
|
|
|
NM_004370.6(COL12A1):c.8415+12G>A
|
rs2149344185
|
|
|
NM_004370.6(COL12A1):c.8415+13C>T
|
rs2149344182
|
|
|
NM_004370.6(COL12A1):c.8415+17T>C
|
rs2149344172
|
|
|
NM_004370.6(COL12A1):c.8415+18C>T
|
|
|
|
NM_004370.6(COL12A1):c.8415+1G>C
|
rs1768356177
|
|
|
NM_004370.6(COL12A1):c.8415+2dup
|
|
|
|
NM_004370.6(COL12A1):c.8416-17C>T
|
|
|
|
NM_004370.6(COL12A1):c.8416-8C>A
|
rs775559307
|
|
|
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys)
|
rs2149343509
|
|
|
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys)
|
|
|
|
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8463C>T (p.Gly2821=)
|
|
|
|
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)
|
rs984314526
|
|
|
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
|
|
|
|
NM_004370.6(COL12A1):c.8469+20G>T
|
rs1768324536
|
|
|
NM_004370.6(COL12A1):c.8469+9G>T
|
|
|
|
NM_004370.6(COL12A1):c.8470-12C>T
|
|
|
|
NM_004370.6(COL12A1):c.8470-4G>T
|
|
|
|
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn)
|
rs1280191331
|
|
|
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
|
|
|
|
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
|
|
|
|
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val)
|
rs1554188241
|
|
|
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser)
|
rs2149343047
|
|
|
NM_004370.6(COL12A1):c.8493A>G (p.Pro2831=)
|
|
|
|
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
|
|
|
|
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8523+17del
|
|
|
|
NM_004370.6(COL12A1):c.8524-10T>G
|
|
|
|
NM_004370.6(COL12A1):c.8524-12dup
|
rs1261200705
|
|
|
NM_004370.6(COL12A1):c.8524-15dup
|
rs2149337428
|
|
|
NM_004370.6(COL12A1):c.8524-3T>G
|
|
|
|
NM_004370.6(COL12A1):c.8524-6C>A
|
rs777596531
|
|
|
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
|
|
|
|
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=)
|
|
|
|
NM_004370.6(COL12A1):c.8541C>T (p.Asp2847=)
|
|
|
|
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg)
|
rs574147225
|
|
|
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs)
|
rs2149337320
|
|
|
NM_004370.6(COL12A1):c.8573C>T (p.Pro2858Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=)
|
|
|
|
NM_004370.6(COL12A1):c.8577+1del
|
|
|
|
NM_004370.6(COL12A1):c.8577+20C>T
|
|
|
|
NM_004370.6(COL12A1):c.8577+4A>G
|
rs1562105188
|
|
|
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=)
|
rs1768087709
|
|
|
NM_004370.6(COL12A1):c.8578-19C>G
|
|
|
|
NM_004370.6(COL12A1):c.8578-6T>G
|
|
|
|
NM_004370.6(COL12A1):c.8578-8T>C
|
rs2149333586
|
|
|
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=)
|
rs189999387
|
|
|
NM_004370.6(COL12A1):c.8601C>T (p.Val2867=)
|
|
|
|
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala)
|
rs2149333527
|
|
|
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg)
|
rs1554167424
|
|
|
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
|
|
|
|
NM_004370.6(COL12A1):c.8613T>C (p.Ser2871=)
|
|
|
|
NM_004370.6(COL12A1):c.8630C>A (p.Pro2877His)
|
|
|
|
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val)
|
rs1385414325
|
|
|
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=)
|
rs1767942315
|
|
|
NM_004370.6(COL12A1):c.8649+10C>G
|
|
|
|
NM_004370.6(COL12A1):c.8649+13C>A
|
|
|
|
NM_004370.6(COL12A1):c.8649+13C>G
|
|
|
|
NM_004370.6(COL12A1):c.8649+16G>C
|
|
|
|
NM_004370.6(COL12A1):c.8649+6C>T
|
rs1037107431
|
|
|
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=)
|
rs900917198
|
|
|
NM_004370.6(COL12A1):c.8650-14T>A
|
|
|
|
NM_004370.6(COL12A1):c.8650-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.8650-20A>C
|
rs1281657456
|
|
|
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
|
|
|
|
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly)
|
rs1767765917
|
|
|
NM_004370.6(COL12A1):c.867C>T (p.Ser289=)
|
|
|
|
NM_004370.6(COL12A1):c.8685+13A>T
|
|
|
|
NM_004370.6(COL12A1):c.8685+17A>G
|
|
|
|
NM_004370.6(COL12A1):c.8685+18A>G
|
rs2149328733
|
|
|
NM_004370.6(COL12A1):c.8685+18dup
|
rs763196298
|
|
|
NM_004370.6(COL12A1):c.8685+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.8685+3A>G
|
|
|
|
NM_004370.6(COL12A1):c.8685+4T>C
|
|
|
|
NM_004370.6(COL12A1):c.8685+8T>C
|
rs763115734
|
|
|
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
|
|
|
|
NM_004370.6(COL12A1):c.8686-6A>G
|
|
|
|
NM_004370.6(COL12A1):c.8697T>G (p.Ala2899=)
|
|
|
|
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=)
|
|
|
|
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)
|
rs371399251
|
|
|
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr)
|
rs1319038184
|
|
|
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
|
|
|
|
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=)
|
|
|
|
NM_004370.6(COL12A1):c.8740del (p.Gln2914fs)
|
|
|
|
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg)
|
rs1562093184
|
|
|
NM_004370.6(COL12A1):c.8752+14T>C
|
|
|
|
NM_004370.6(COL12A1):c.8752+15C>G
|
|
|
|
NM_004370.6(COL12A1):c.8752+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.8752+5A>C
|
|
|
|
NM_004370.6(COL12A1):c.8752+9del
|
|
|
|
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)
|
|
|
|
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile)
|
rs1767695881
|
|
|
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
|
|
|
|
NM_004370.6(COL12A1):c.877C>T (p.Leu293=)
|
|
|
|
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=)
|
|
|
|
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
|
|
|
|
NM_004370.6(COL12A1):c.8813G>A (p.Arg2938His)
|
|
|
|
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu)
|
rs752206319
|
|
|
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=)
|
|
|
|
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=)
|
rs2149327016
|
|
|
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=)
|
rs2149327011
|
|
|
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8840C>T (p.Pro2947Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
|
|
|
|
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val)
|
rs1554166746
|
|
|
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=)
|
rs2149326931
|
|
|
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=)
|
rs942666795
|
|
|
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser)
|
rs1562090566
|
|
|
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly)
|
rs1769748525
|
|
|
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=)
|
rs774577979
|
|
|
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
|
|
|
|
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=)
|
rs760317754
|
|
|
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp)
|
rs760317754
|
|
|
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu)
|
rs369768310
|
|
|
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
|
|
|
|
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln)
|
rs1767686939
|
|
|
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu)
|
rs1582030236
|
|
|
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=)
|
rs2149326803
|
|
|
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
|
|
|
|
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr)
|
rs1310755474
|
|
|
NM_004370.6(COL12A1):c.892A>C (p.Asn298His)
|
rs1404705545
|
|
|
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr)
|
rs1404705545
|
|
|
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=)
|
rs2149326774
|
|
|
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
|
|
|
|
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
|
|
|
|
NM_004370.6(COL12A1):c.8941+14G>C
|
|
|
|
NM_004370.6(COL12A1):c.8941+16T>C
|
|
|
|
NM_004370.6(COL12A1):c.8942-14T>G
|
|
|
|
NM_004370.6(COL12A1):c.8942-5C>A
|
|
|
|
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe)
|
rs1767642437
|
|
|
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys)
|
rs1767642101
|
|
|
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
|
|
|
|
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=)
|
rs1321003013
|
|
|
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=)
|
rs1321003013
|
|
|
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=)
|
rs1321003013
|
|
|
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val)
|
rs763589676
|
|
|
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly)
|
rs1582219536
|
|
|
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=)
|
rs1281725784
|
|
|
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9010+15A>G
|
|
|
|
NM_004370.6(COL12A1):c.9010+2T>C
|
|
|
|
NM_004370.6(COL12A1):c.9010+4G>C
|
rs2149325295
|
|
|
NM_004370.6(COL12A1):c.9010+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.9011-20T>A
|
rs1336319358
|
|
|
NM_004370.6(COL12A1):c.9011-20_9011-19del
|
|
|
|
NM_004370.6(COL12A1):c.9011-8C>T
|
|
|
|
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu)
|
rs1767574773
|
|
|
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile)
|
rs1767574420
|
|
|
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)
|
|
|
|
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile)
|
rs1767573014
|
|
|
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro)
|
rs1307746550
|
|
|
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
|
|
|
|
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
|
|
|
|
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)
|
rs572512247
|
|
|
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser)
|
rs560180665
|
|
|
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
|
|
|
|
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser)
|
rs376189614
|
|
|
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu)
|
rs1767570608
|
|
|
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
|
|
|
|
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)
|
rs2149322917
|
|
|
NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)
|
|
|
|
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys)
|
rs1767569916
|
|
|
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=)
|
rs1448973629
|
|
|
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
|
|
|
|
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=)
|
rs777425494
|
|
|
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)
|
|
|
|
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)
|
|
|
|
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu)
|
rs1767566470
|
|
|
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly)
|
rs2149322777
|
|
|
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val)
|
rs751471471
|
|
|
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val)
|
rs1769746949
|
|
|
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)
|
|
|
|
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr)
|
rs1268620135
|
|
|
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
|
|
|
|
NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=)
|
|
|
|
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)
|
|
|
|
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
|
|
|
|
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9181+11G>A
|
|
|
|
NM_004370.6(COL12A1):c.9181+16T>C
|
|
|
|
NM_004370.6(COL12A1):c.9181+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.9181+20G>A
|
|
|
|
NM_004370.6(COL12A1):c.9181+4C>G
|
|
|
|
NM_004370.6(COL12A1):c.9181+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.9182-11A>G
|
|
|
|
NM_004370.6(COL12A1):c.9182-19C>A
|
rs1767498861
|
|
|
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
|
|
|
|
NM_004370.6(COL12A1):c.939C>T (p.Ile313=)
|
|
|
|
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
|
|
|
|
NM_004370.6(COL12A1):c.974G>A (p.Gly325Asp)
|
|
|
|
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val)
|
rs1442527803
|
|
|
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe)
|
rs370040853
|
|
|
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
|
|
|
|
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn)
|
rs1769743212
|
|
|
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)
|
|
|
|
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
|
|
|
|
NM_004370.6(COL12A1):c.997+15T>G
|
rs2149473736
|
|
|
NM_004370.6(COL12A1):c.997+2T>C
|
|
|
|
NM_004370.6(COL12A1):c.997+7A>G
|
|
|
|
NM_004370.6(COL12A1):c.997+9A>G
|
rs560228996
|
|
|
NM_004370.6(COL12A1):c.998-15C>T
|
|
|
|
NM_004370.6(COL12A1):c.998-17T>C
|
|
|
|
NM_004612.4(TGFBR1):c.1071A>C (p.Arg357Ser)
|
rs2118806030
|
|
|
NM_004612.4(TGFBR1):c.1125A>G (p.Thr375=)
|
rs7861780
|
|
|
NM_004612.4(TGFBR1):c.1140C>T (p.Ala380=)
|
rs1407167849
|
|
|
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys)
|
rs1360080681
|
|
|
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)
|
rs1826371375
|
|
|
NM_004612.4(TGFBR1):c.463C>G (p.His155Asp)
|
rs751679796
|
|
|
NM_004612.4(TGFBR1):c.50T>A (p.Leu17Gln)
|
rs2118164469
|
|
|
NM_004612.4(TGFBR1):c.52G>T (p.Ala18Ser)
|
rs1243596219
|
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
|
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)
|
rs1564161224
|
|
|
NM_005902.4(SMAD3):c.1065G>T (p.Ser355=)
|
rs756181827
|
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
|
NM_005902.4(SMAD3):c.594del (p.His198fs)
|
rs2140296876
|
|
|
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe)
|
rs2140313919
|
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
|
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)
|
rs387906850
|
|
|
NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)
|
|
|
|
NM_007255.3(B4GALT7):c.106G>A (p.Val36Met)
|
|
|
|
NM_007255.3(B4GALT7):c.128TCT[1] (p.Phe44del)
|
rs762698149
|
|
|
NM_007255.3(B4GALT7):c.134C>G (p.Ser45Cys)
|
rs747688432
|
|
|
NM_007255.3(B4GALT7):c.134C>T (p.Ser45Phe)
|
|
|
|
NM_007255.3(B4GALT7):c.135C>T (p.Ser45=)
|
|
|
|
NM_007255.3(B4GALT7):c.13C>T (p.Arg5Trp)
|
rs2127509643
|
|
|
NM_007255.3(B4GALT7):c.161C>G (p.Ser54Cys)
|
|
|
|
NM_007255.3(B4GALT7):c.168C>G (p.Asp56Glu)
|
rs1309659292
|
|
|
NM_007255.3(B4GALT7):c.170T>C (p.Val57Ala)
|
|
|
|
NM_007255.3(B4GALT7):c.171G>A (p.Val57=)
|
|
|
|
NM_007255.3(B4GALT7):c.174C>G (p.Ala58=)
|
rs2127511511
|
|
|
NM_007255.3(B4GALT7):c.179_413+354del
|
|
|
|
NM_007255.3(B4GALT7):c.186G>C (p.Arg62Ser)
|
|
|
|
NM_007255.3(B4GALT7):c.188G>A (p.Gly63Glu)
|
|
|
|
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
|
|
|
|
NM_007255.3(B4GALT7):c.18G>A (p.Arg6=)
|
|
|
|
NM_007255.3(B4GALT7):c.204C>A (p.Thr68=)
|
rs1767919814
|
|
|
NM_007255.3(B4GALT7):c.207G>A (p.Ser69=)
|
|
|
|
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
|
|
|
|
NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter)
|
rs780427259
|
|
|
NM_007255.3(B4GALT7):c.239C>T (p.Pro80Leu)
|
|
|
|
NM_007255.3(B4GALT7):c.240C>T (p.Pro80=)
|
rs377379133
|
|
|
NM_007255.3(B4GALT7):c.242_243del (p.Pro81fs)
|
|
|
|
NM_007255.3(B4GALT7):c.246G>A (p.Glu82=)
|
|
|
|
NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)
|
|
|
|
NM_007255.3(B4GALT7):c.258A>T (p.Glu86Asp)
|
rs759226446
|
|
|
NM_007255.3(B4GALT7):c.261C>T (p.Asp87=)
|
|
|
|
NM_007255.3(B4GALT7):c.267C>T (p.Ser89=)
|
|
|
|
NM_007255.3(B4GALT7):c.272_273delinsTT (p.Gly91Val)
|
rs2127511623
|
|
|
NM_007255.3(B4GALT7):c.274C>T (p.Pro92Ser)
|
rs756885469
|
|
|
NM_007255.3(B4GALT7):c.275C>T (p.Pro92Leu)
|
rs778409854
|
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
|
NM_007255.3(B4GALT7):c.27G>A (p.Ala9=)
|
rs1448005107
|
|
|
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val)
|
rs926913315
|
|
|
NM_007255.3(B4GALT7):c.283C>T (p.Leu95=)
|
|
|
|
NM_007255.3(B4GALT7):c.29A>T (p.Gln10Leu)
|
|
|
|
NM_007255.3(B4GALT7):c.300C>T (p.Pro100=)
|
|
|
|
NM_007255.3(B4GALT7):c.316G>A (p.Glu106Lys)
|
rs2127511686
|
|
|
NM_007255.3(B4GALT7):c.319G>C (p.Glu107Gln)
|
rs1767927068
|
|
|
NM_007255.3(B4GALT7):c.324C>T (p.Leu108=)
|
rs1767927262
|
|
|
NM_007255.3(B4GALT7):c.325del (p.Leu109fs)
|
rs2127511689
|
|
|
NM_007255.3(B4GALT7):c.33G>A (p.Leu11=)
|
rs1005210482
|
|
|
NM_007255.3(B4GALT7):c.340C>A (p.His114Asn)
|
rs753864389
|
|
|
NM_007255.3(B4GALT7):c.343A>G (p.Met115Val)
|
|
|
|
NM_007255.3(B4GALT7):c.346C>G (p.Arg116Gly)
|
rs750028904
|
|
|
NM_007255.3(B4GALT7):c.347G>A (p.Arg116His)
|
|
|
|
NM_007255.3(B4GALT7):c.351C>T (p.Arg117=)
|
|
|
|
NM_007255.3(B4GALT7):c.364A>C (p.Lys122Gln)
|
rs201281389
|
|
|
NM_007255.3(B4GALT7):c.396C>T (p.Asn132=)
|
|
|
|
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg)
|
rs1370937766
|
|
|
NM_007255.3(B4GALT7):c.400G>A (p.Val134Met)
|
rs2127511771
|
|
|
NM_007255.3(B4GALT7):c.407A>T (p.His136Leu)
|
|
|
|
NM_007255.3(B4GALT7):c.408C>T (p.His136=)
|
|
|
|
NM_007255.3(B4GALT7):c.413+12C>T
|
|
|
|
NM_007255.3(B4GALT7):c.413+13C>T
|
|
|
|
NM_007255.3(B4GALT7):c.413+14C>T
|
|
|
|
NM_007255.3(B4GALT7):c.413+15C>T
|
rs757790046
|
|
|
NM_007255.3(B4GALT7):c.413+16A>C
|
rs1767932065
|
|
|
NM_007255.3(B4GALT7):c.413+16A>G
|
|
|
|
NM_007255.3(B4GALT7):c.413+17C>G
|
|
|
|
NM_007255.3(B4GALT7):c.413+17C>T
|
|
|
|
NM_007255.3(B4GALT7):c.413+19C>T
|
|
|
|
NM_007255.3(B4GALT7):c.413+3A>G
|
|
|
|
NM_007255.3(B4GALT7):c.413+60C>G
|
rs28499092
|
|
|
NM_007255.3(B4GALT7):c.414-2A>G
|
|
|
|
NM_007255.3(B4GALT7):c.421C>A (p.Arg141=)
|
|
|
|
NM_007255.3(B4GALT7):c.429G>A (p.Ala143=)
|
|
|
|
NM_007255.3(B4GALT7):c.438C>T (p.Asn146=)
|
|
|
|
NM_007255.3(B4GALT7):c.446T>G (p.Phe149Cys)
|
rs2127513189
|
|
|
NM_007255.3(B4GALT7):c.455G>C (p.Ser152Thr)
|
|
|
|
NM_007255.3(B4GALT7):c.467C>T (p.Thr156Met)
|
|
|
|
NM_007255.3(B4GALT7):c.46G>C (p.Gly16Arg)
|
rs1391741493
|
|
|
NM_007255.3(B4GALT7):c.484C>T (p.His162Tyr)
|
rs375801425
|
|
|
NM_007255.3(B4GALT7):c.485A>G (p.His162Arg)
|
|
|
|
NM_007255.3(B4GALT7):c.486C>G (p.His162Gln)
|
rs370142626
|
|
|
NM_007255.3(B4GALT7):c.486C>T (p.His162=)
|
|
|
|
NM_007255.3(B4GALT7):c.491T>C (p.Val164Ala)
|
rs1281774679
|
|
|
NM_007255.3(B4GALT7):c.492T>C (p.Val164=)
|
|
|
|
NM_007255.3(B4GALT7):c.50+14G>A
|
|
|
|
NM_007255.3(B4GALT7):c.50+1G>A
|
|
|
|
NM_007255.3(B4GALT7):c.50+5GCG[4]
|
|
|
|
NM_007255.3(B4GALT7):c.502_517del (p.Pro168fs)
|
rs2127513246
|
|
|
NM_007255.3(B4GALT7):c.509A>G (p.Asn170Ser)
|
rs2127513256
|
|
|
NM_007255.3(B4GALT7):c.51-11G>A
|
rs763444666
|
|
|
NM_007255.3(B4GALT7):c.51-19T>C
|
|
|
|
NM_007255.3(B4GALT7):c.51-20C>G
|
|
|
|
NM_007255.3(B4GALT7):c.51-4C>T
|
|
|
|
NM_007255.3(B4GALT7):c.510C>T (p.Asn170=)
|
|
|
|
NM_007255.3(B4GALT7):c.511G>A (p.Glu171Lys)
|
|
|
|
NM_007255.3(B4GALT7):c.519G>A (p.Leu173=)
|
|
|
|
NM_007255.3(B4GALT7):c.520G>C (p.Asp174His)
|
|
|
|
NM_007255.3(B4GALT7):c.520G>T (p.Asp174Tyr)
|
rs532945440
|
|
|
NM_007255.3(B4GALT7):c.522C>G (p.Asp174Glu)
|
|
|
|
NM_007255.3(B4GALT7):c.53C>G (p.Ser18Cys)
|
|
|
|
NM_007255.3(B4GALT7):c.54C>T (p.Ser18=)
|
|
|
|
NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg)
|
rs149484064
|
|
|
NM_007255.3(B4GALT7):c.564G>T (p.Pro188=)
|
|
|
|
NM_007255.3(B4GALT7):c.579C>T (p.Leu193=)
|
|
|
|
NM_007255.3(B4GALT7):c.57G>A (p.Gly19=)
|
|
|
|
NM_007255.3(B4GALT7):c.585C>T (p.His195=)
|
|
|
|
NM_007255.3(B4GALT7):c.597T>C (p.Tyr199=)
|
rs560198890
|
|
|
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro)
|
rs121917818
|
|
|
NM_007255.3(B4GALT7):c.629A>C (p.His210Pro)
|
rs752722346
|
|
|
NM_007255.3(B4GALT7):c.632A>T (p.Tyr211Phe)
|
rs2127513358
|
|
|
NM_007255.3(B4GALT7):c.633C>T (p.Tyr211=)
|
|
|
|
NM_007255.3(B4GALT7):c.636G>A (p.Arg212=)
|
|
|
|
NM_007255.3(B4GALT7):c.639+10G>A
|
rs1023872849
|
|
|
NM_007255.3(B4GALT7):c.639+13C>A
|
rs746538176
|
|
|
NM_007255.3(B4GALT7):c.639+6G>T
|
|
|
|
NM_007255.3(B4GALT7):c.639+9C>A
|
|
|
|
NM_007255.3(B4GALT7):c.639+9C>T
|
|
|
|
NM_007255.3(B4GALT7):c.640-12T>A
|
|
|
|
NM_007255.3(B4GALT7):c.640-14T>G
|
|
|
|
NM_007255.3(B4GALT7):c.648G>A (p.Gly216=)
|
|
|
|
NM_007255.3(B4GALT7):c.654C>T (p.Ser218=)
|
rs780413704
|
|
|
NM_007255.3(B4GALT7):c.658C>A (p.Arg220Ser)
|
rs199905021
|
|
|
NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys)
|
rs199905021
|
|
|
NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)
|
|
|
|
NM_007255.3(B4GALT7):c.678C>T (p.Arg226=)
|
|
|
|
NM_007255.3(B4GALT7):c.684C>T (p.Asp228=)
|
|
|
|
NM_007255.3(B4GALT7):c.688G>A (p.Glu230Lys)
|
rs751946151
|
|
|
NM_007255.3(B4GALT7):c.693C>T (p.Phe231=)
|
|
|
|
NM_007255.3(B4GALT7):c.705T>A (p.Ile235=)
|
|
|
|
NM_007255.3(B4GALT7):c.720C>T (p.Leu240=)
|
|
|
|
NM_007255.3(B4GALT7):c.723+12C>T
|
|
|
|
NM_007255.3(B4GALT7):c.723+13G>T
|
rs775276570
|
|
|
NM_007255.3(B4GALT7):c.723+15del
|
rs773263037
|
|
|
NM_007255.3(B4GALT7):c.723+18C>T
|
|
|
|
NM_007255.3(B4GALT7):c.723+19del
|
|
|
|
NM_007255.3(B4GALT7):c.723+3G>A
|
|
|
|
NM_007255.3(B4GALT7):c.724-20A>C
|
|
|
|
NM_007255.3(B4GALT7):c.724-21_724-19del
|
rs2127514102
|
|
|
NM_007255.3(B4GALT7):c.724-6C>T
|
|
|
|
NM_007255.3(B4GALT7):c.72C>T (p.Gly24=)
|
|
|
|
NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)
|
|
|
|
NM_007255.3(B4GALT7):c.750T>C (p.Thr250=)
|
rs772835831
|
|
|
NM_007255.3(B4GALT7):c.751G>A (p.Gly251Arg)
|
|
|
|
NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile)
|
rs1435784513
|
|
|
NM_007255.3(B4GALT7):c.762_763del (p.Phe255fs)
|
|
|
|
NM_007255.3(B4GALT7):c.780C>T (p.Asp260=)
|
|
|
|
NM_007255.3(B4GALT7):c.781C>T (p.Pro261Ser)
|
rs1768098034
|
|
|
NM_007255.3(B4GALT7):c.786C>A (p.Ala262=)
|
|
|
|
NM_007255.3(B4GALT7):c.786C>T (p.Ala262=)
|
rs757401980
|
|
|
NM_007255.3(B4GALT7):c.7C>T (p.Pro3Ser)
|
rs749515076
|
|
|
NM_007255.3(B4GALT7):c.828+19A>G
|
|
|
|
NM_007255.3(B4GALT7):c.828+7G>C
|
|
|
|
NM_007255.3(B4GALT7):c.829-16C>A
|
|
|
|
NM_007255.3(B4GALT7):c.829-16C>T
|
|
|
|
NM_007255.3(B4GALT7):c.829-6C>T
|
rs377212592
|
|
|
NM_007255.3(B4GALT7):c.840G>A (p.Lys280=)
|
|
|
|
NM_007255.3(B4GALT7):c.844G>A (p.Asp282Asn)
|
rs1768115670
|
|
|
NM_007255.3(B4GALT7):c.864C>T (p.Asn288=)
|
|
|
|
NM_007255.3(B4GALT7):c.869T>C (p.Val290Ala)
|
|
|
|
NM_007255.3(B4GALT7):c.86G>A (p.Cys29Tyr)
|
|
|
|
NM_007255.3(B4GALT7):c.881_882insTGAGGTGGATTAAACCAAACCCAGCTACGCAAAATCTTAGT (p.Val294_Ala295insGluValAspTer)
|
rs2127514559
|
|
|
NM_007255.3(B4GALT7):c.888C>T (p.Ser296=)
|
|
|
|
NM_007255.3(B4GALT7):c.889C>T (p.Arg297Cys)
|
rs749289544
|
|
|
NM_007255.3(B4GALT7):c.89C>T (p.Ser30Phe)
|
rs1433445414
|
|
|
NM_007255.3(B4GALT7):c.900G>A (p.Leu300=)
|
rs1421610470
|
|
|
NM_007255.3(B4GALT7):c.910G>A (p.Gly304Arg)
|
rs145082497
|
|
|
NM_007255.3(B4GALT7):c.910G>C (p.Gly304Arg)
|
rs145082497
|
|
|
NM_007255.3(B4GALT7):c.911G>C (p.Gly304Ala)
|
|
|
|
NM_007255.3(B4GALT7):c.915C>A (p.Ala305=)
|
|
|
|
NM_007255.3(B4GALT7):c.915C>T (p.Ala305=)
|
|
|
|
NM_007255.3(B4GALT7):c.918C>T (p.Pro306=)
|
rs2127514617
|
|
|
NM_007255.3(B4GALT7):c.924T>A (p.Thr308=)
|
|
|
|
NM_007255.3(B4GALT7):c.926del (p.Val309fs)
|
|
|
|
NM_007255.3(B4GALT7):c.927C>T (p.Val309=)
|
|
|
|
NM_007255.3(B4GALT7):c.937A>G (p.Met313Val)
|
rs1768121721
|
|
|
NM_007255.3(B4GALT7):c.938T>G (p.Met313Arg)
|
rs757174910
|
|
|
NM_007255.3(B4GALT7):c.939G>C (p.Met313Ile)
|
rs778439107
|
|
|
NM_007255.3(B4GALT7):c.941T>G (p.Leu314Trp)
|
rs1024596270
|
|
|
NM_007255.3(B4GALT7):c.945C>T (p.Asp315=)
|
rs2127514653
|
|
|
NM_007255.3(B4GALT7):c.952A>G (p.Lys318Glu)
|
rs2127514659
|
|
|
NM_007255.3(B4GALT7):c.957C>G (p.Thr319=)
|
|
|
|
NM_007255.3(B4GALT7):c.957C>T (p.Thr319=)
|
rs138973879
|
|
|
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp)
|
rs770222232
|
|
|
NM_007255.3(B4GALT7):c.960C>A (p.Ala320=)
|
|
|
|
NM_007255.3(B4GALT7):c.962C>T (p.Thr321Ile)
|
rs773712777
|
|
|
NM_007255.3(B4GALT7):c.963A>G (p.Thr321=)
|
|
|
|
NM_007255.3(B4GALT7):c.967T>A (p.Trp323Arg)
|
rs774970799
|
|
|
NM_013352.4(DSE):c.101C>G (p.Pro34Arg)
|
rs35548455
|
|
|
NM_013352.4(DSE):c.102C>T (p.Pro34=)
|
|
|
|
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
|
|
|
|
NM_013352.4(DSE):c.110A>G (p.Asn37Ser)
|
rs371802983
|
|
|
NM_013352.4(DSE):c.110A>T (p.Asn37Ile)
|
rs371802983
|
|
|
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
|
|
|
|
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr)
|
rs2115093579
|
|
|
NM_013352.4(DSE):c.1197C>T (p.Val399=)
|
|
|
|
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
|
|
|
|
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
|
|
|
|
NM_013352.4(DSE):c.1284T>C (p.Tyr428=)
|
rs1583235798
|
|
|
NM_013352.4(DSE):c.1293C>A (p.Val431=)
|
|
|
|
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
|
|
|
|
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser)
|
rs1423707879
|
|
|
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn)
|
rs2115094114
|
|
|
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
|
|
|
|
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
|
|
|
|
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
|
|
|
|
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
|
|
|
|
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
|
|
|
|
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
|
|
|
|
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu)
|
rs757356537
|
|
|
NM_013352.4(DSE):c.144C>T (p.Phe48=)
|
|
|
|
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs)
|
rs2115094515
|
|
|
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn)
|
rs2115094625
|
|
|
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu)
|
rs1562313702
|
|
|
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
|
|
|
|
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
|
|
|
|
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
|
|
|
|
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
|
|
|
|
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
|
|
|
|
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu)
|
rs2115094990
|
|
|
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
|
|
|
|
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs)
|
rs2115095071
|
|
|
NM_013352.4(DSE):c.1686T>A (p.His562Gln)
|
rs2115095121
|
|
|
NM_013352.4(DSE):c.16C>A (p.Arg6=)
|
|
|
|
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
|
|
|
|
NM_013352.4(DSE):c.171G>T (p.Gln57His)
|
|
|
|
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
|
|
|
|
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
|
|
|
|
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
|
|
|
|
NM_013352.4(DSE):c.1752G>C (p.Ala584=)
|
rs561665809
|
|
|
NM_013352.4(DSE):c.1809T>C (p.His603=)
|
|
|
|
NM_013352.4(DSE):c.182C>A (p.Ala61Asp)
|
rs2114995025
|
|
|
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
|
|
|
|
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
|
|
|
|
NM_013352.4(DSE):c.1897G>A (p.Val633Met)
|
rs550208733
|
|
|
NM_013352.4(DSE):c.1911G>C (p.Arg637=)
|
rs2115096083
|
|
|
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe)
|
rs1784155007
|
|
|
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
|
|
|
|
NM_013352.4(DSE):c.192C>T (p.His64=)
|
|
|
|
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
|
|
|
|
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
|
|
|
|
NM_013352.4(DSE):c.201T>A (p.Ile67=)
|
|
|
|
NM_013352.4(DSE):c.2031C>T (p.His677=)
|
|
|
|
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
|
|
|
|
NM_013352.4(DSE):c.2063C>T (p.Ala688Val)
|
rs143443243
|
|
|
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
|
|
|
|
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
|
|
|
|
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser)
|
rs762120249
|
|
|
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
|
|
|
|
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys)
|
rs762120249
|
|
|
NM_013352.4(DSE):c.2196C>A (p.Val732=)
|
|
|
|
NM_013352.4(DSE):c.21G>C (p.Gly7=)
|
|
|
|
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
|
|
|
|
NM_013352.4(DSE):c.2215G>T (p.Ala739Ser)
|
rs1784179508
|
|
|
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter)
|
rs1784181791
|
|
|
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
|
|
|
|
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
|
|
|
|
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
|
|
|
|
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
|
|
|
|
NM_013352.4(DSE):c.2358T>C (p.Thr786=)
|
rs781704477
|
|
|
NM_013352.4(DSE):c.237G>A (p.Leu79=)
|
|
|
|
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
|
|
|
|
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys)
|
rs760979521
|
|
|
NM_013352.4(DSE):c.2465T>C (p.Val822Ala)
|
rs778282572
|
|
|
NM_013352.4(DSE):c.2482del (p.Gln828fs)
|
rs2115098611
|
|
|
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
|
|
|
|
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
|
|
|
|
NM_013352.4(DSE):c.2518G>A (p.Ala840Thr)
|
rs776761775
|
|
|
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
|
|
|
|
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
|
|
|
|
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly)
|
rs2115099078
|
|
|
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
|
|
|
|
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
|
|
|
|
NM_013352.4(DSE):c.2619_2621del (p.Gly874del)
|
rs111252008
|
|
|
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
|
|
|
|
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly)
|
rs113277624
|
|
|
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp)
|
rs113277624
|
|
|
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
|
|
|
|
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
|
|
|
|
NM_013352.4(DSE):c.2646G>A (p.Gln882=)
|
rs2115099368
|
|
|
NM_013352.4(DSE):c.264C>G (p.Pro88=)
|
|
|
|
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
|
|
|
|
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
|
|
|
|
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
|
|
|
|
NM_013352.4(DSE):c.277G>A (p.Asp93Asn)
|
rs2114995361
|
|
|
NM_013352.4(DSE):c.2799del (p.Arg933fs)
|
rs1339083714
|
|
|
NM_013352.4(DSE):c.27C>A (p.Pro9=)
|
|
|
|
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
|
|
|
|
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
|
|
|
|
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
|
|
|
|
NM_013352.4(DSE):c.325T>G (p.Leu109Val)
|
rs1781471216
|
|
|
NM_013352.4(DSE):c.331A>G (p.Met111Val)
|
rs866132678
|
|
|
NM_013352.4(DSE):c.33G>A (p.Val11=)
|
|
|
|
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
|
|
|
|
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
|
|
|
|
NM_013352.4(DSE):c.355A>C (p.Asn119His)
|
rs1583172956
|
|
|
NM_013352.4(DSE):c.357C>T (p.Asn119=)
|
|
|
|
NM_013352.4(DSE):c.364G>A (p.Ala122Thr)
|
rs1781474657
|
|
|
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
|
|
|
|
NM_013352.4(DSE):c.447C>T (p.Val149=)
|
|
|
|
NM_013352.4(DSE):c.480del (p.Ala161fs)
|
|
|
|
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr)
|
rs76186865
|
|
|
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
|
|
|
|
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
|
|
|
|
NM_013352.4(DSE):c.611A>G (p.Asn204Ser)
|
rs2115065124
|
|
|
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
|
|
|
|
NM_013352.4(DSE):c.670+18C>T
|
|
|
|
NM_013352.4(DSE):c.670+20A>G
|
|
|
|
NM_013352.4(DSE):c.681A>G (p.Gln227=)
|
|
|
|
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
|
|
|
|
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
|
|
|
|
NM_013352.4(DSE):c.714C>T (p.Thr238=)
|
|
|
|
NM_013352.4(DSE):c.718A>G (p.Met240Val)
|
|
|
|
NM_013352.4(DSE):c.780G>T (p.Ala260=)
|
|
|
|
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
|
|
|
|
NM_013352.4(DSE):c.78C>T (p.Asp26=)
|
rs146524076
|
|
|
NM_013352.4(DSE):c.799A>G (p.Arg267Gly)
|
rs1554227382
|
|
|
NM_013352.4(DSE):c.803C>T (p.Ser268Leu)
|
rs398122361
|
|
|
NM_013352.4(DSE):c.807C>T (p.Leu269=)
|
|
|
|
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
|
|
|
|
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
|
|
|
|
NM_013352.4(DSE):c.8C>A (p.Thr3Asn)
|
rs1164317142
|
|
|
NM_013352.4(DSE):c.910+10G>A
|
|
|
|
NM_013352.4(DSE):c.910+8G>A
|
|
|
|
NM_013352.4(DSE):c.910+9A>C
|
|
|
|
NM_013352.4(DSE):c.945T>C (p.Asn315=)
|
|
|
|
NM_013352.4(DSE):c.95T>A (p.Met32Lys)
|
rs140765634
|
|
|
NM_013352.4(DSE):c.966A>G (p.Pro322=)
|
|
|
|
NM_013352.4(DSE):c.975A>G (p.Gln325=)
|
|
|
|
NM_013352.4(DSE):c.981G>A (p.Val327=)
|
rs951430479
|
|
|
NM_014244.4(ADAMTS2):c.691del
|
rs1764738425
|
|
|
NM_014244.5(ADAMTS2):c.*1077A>G
|
rs1011844643
|
|
|
NM_014244.5(ADAMTS2):c.*1437_*1438del
|
rs375426260
|
|
|
NM_014244.5(ADAMTS2):c.*1446dup
|
rs151062906
|
|
|
NM_014244.5(ADAMTS2):c.*1579_*1585del
|
rs539443462
|
|
|
NM_014244.5(ADAMTS2):c.*1589T>C
|
rs533044375
|
|
|
NM_014244.5(ADAMTS2):c.*1747A>C
|
rs886060486
|
|
|
NM_014244.5(ADAMTS2):c.*181C>T
|
rs886060489
|
|
|
NM_014244.5(ADAMTS2):c.*1837T>G
|
rs1003207022
|
|
|
NM_014244.5(ADAMTS2):c.*2169G>A
|
rs1762570717
|
|
|
NM_014244.5(ADAMTS2):c.*2180C>A
|
rs961432521
|
|
|
NM_014244.5(ADAMTS2):c.*2820C>A
|
rs1381911253
|
|
|
NM_014244.5(ADAMTS2):c.*2840T>G
|
rs1008909674
|
|
|
NM_014244.5(ADAMTS2):c.*2923AAC[1]
|
rs886060480
|
|
|
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA
|
rs386695575
|
|
|
NM_014244.5(ADAMTS2):c.*353C>T
|
rs886060487
|
|
|
NM_014244.5(ADAMTS2):c.*835C>T
|
rs1762596121
|
|
|
NM_014244.5(ADAMTS2):c.-45T>C
|
rs886060500
|
|
|
NM_014244.5(ADAMTS2):c.1002C>T (p.Asn334=)
|
rs766934969
|
|
|
NM_014244.5(ADAMTS2):c.1008T>C (p.Ser336=)
|
rs1581160048
|
|
|
NM_014244.5(ADAMTS2):c.100_130del (p.Pro34fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1017G>A (p.Leu339=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1020G>A (p.Glu340=)
|
rs2113265237
|
|
|
NM_014244.5(ADAMTS2):c.1023T>C (p.Asn341=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1026C>G (p.Val342=)
|
rs1298706423
|
|
|
NM_014244.5(ADAMTS2):c.1029C>T (p.Cys343=)
|
rs953931922
|
|
|
NM_014244.5(ADAMTS2):c.102C>T (p.Pro34=)
|
rs1402048390
|
|
|
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs)
|
rs1757906798
|
|
|
NM_014244.5(ADAMTS2):c.102_126dup (p.Ala43fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1034G>A (p.Trp345Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1038C>G (p.Ala346=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1047G>A (p.Gln349=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1049A>G (p.Gln350Arg)
|
rs2113265082
|
|
|
NM_014244.5(ADAMTS2):c.105G>A (p.Ala35=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1077C>T (p.Tyr359=)
|
|
|
|
NM_014244.5(ADAMTS2):c.107del (p.Asn36fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1087G>A (p.Ala363Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.108C>T (p.Asn36=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1098C>T (p.Leu366=)
|
rs374671543
|
|
|
NM_014244.5(ADAMTS2):c.1102C>T (p.Arg368Trp)
|
rs371384169
|
|
|
NM_014244.5(ADAMTS2):c.1110C>T (p.Asp370=)
|
|
|
|
NM_014244.5(ADAMTS2):c.111C>T (p.Ala37=)
|
rs2127463854
|
|
|
NM_014244.5(ADAMTS2):c.1122C>G (p.Ser374=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser)
|
rs886060494
|
|
|
NM_014244.5(ADAMTS2):c.1132+11C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1132+16G>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1132+17C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1132+6C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1132+7C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1132+9C>A
|
rs1196360635
|
|
|
NM_014244.5(ADAMTS2):c.1133-10C>T
|
rs934418118
|
|
|
NM_014244.5(ADAMTS2):c.1133-15C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1133-19G>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1133-20C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1133-5C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1133-8C>T
|
rs2113254774
|
|
|
NM_014244.5(ADAMTS2):c.1134C>T (p.Gly378=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1136A>T (p.Tyr379Phe)
|
|
|
|
NM_014244.5(ADAMTS2):c.1137T>A (p.Tyr379Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.113G>A (p.Arg38Lys)
|
rs2127463853
|
|
|
NM_014244.5(ADAMTS2):c.1149C>G (p.Thr383=)
|
rs199664723
|
|
|
NM_014244.5(ADAMTS2):c.1161T>C (p.His387=)
|
rs770426851
|
|
|
NM_014244.5(ADAMTS2):c.1169G>A (p.Arg390His)
|
rs768623482
|
|
|
NM_014244.5(ADAMTS2):c.1170C>T (p.Arg390=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1175del (p.Cys392fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.117C>A (p.Leu39=)
|
rs1323794483
|
|
|
NM_014244.5(ADAMTS2):c.117C>T (p.Leu39=)
|
|
|
|
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)
|
rs1174228917
|
|
|
NM_014244.5(ADAMTS2):c.11C>A (p.Pro4Gln)
|
rs2127463944
|
|
|
NM_014244.5(ADAMTS2):c.11del (p.Pro4fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1202C>T (p.Ser401Phe)
|
|
|
|
NM_014244.5(ADAMTS2):c.1206A>G (p.Ser402=)
|
rs2113254497
|
|
|
NM_014244.5(ADAMTS2):c.120C>A (p.Ala40=)
|
rs2127463847
|
|
|
NM_014244.5(ADAMTS2):c.120C>G (p.Ala40=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1210T>C (p.Phe404Leu)
|
rs2113254470
|
|
|
NM_014244.5(ADAMTS2):c.121G>C (p.Ala41Pro)
|
rs1757906922
|
|
|
NM_014244.5(ADAMTS2):c.1221C>T (p.Ala407=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1238+10del
|
|
|
|
NM_014244.5(ADAMTS2):c.1238+15G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1238+17A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1239-14C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1239-16G>A
|
rs370225850
|
|
|
NM_014244.5(ADAMTS2):c.1239-17T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1239-6T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1245C>G (p.Gly415=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1263G>A (p.Gln421=)
|
|
|
|
NM_014244.5(ADAMTS2):c.126C>T (p.Ala42=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1271G>A (p.Arg424His)
|
|
|
|
NM_014244.5(ADAMTS2):c.1279G>A (p.Asp427Asn)
|
|
|
|
NM_014244.5(ADAMTS2):c.1282G>A (p.Glu428Lys)
|
|
|
|
NM_014244.5(ADAMTS2):c.1289G>A (p.Arg430Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.1291C>T (p.Leu431=)
|
rs1445349116
|
|
|
NM_014244.5(ADAMTS2):c.1293G>A (p.Leu431=)
|
rs952594565
|
|
|
NM_014244.5(ADAMTS2):c.129C>A (p.Ala43=)
|
rs758316365
|
|
|
NM_014244.5(ADAMTS2):c.129C>G (p.Ala43=)
|
rs758316365
|
|
|
NM_014244.5(ADAMTS2):c.129C>T (p.Ala43=)
|
rs758316365
|
|
|
NM_014244.5(ADAMTS2):c.12G>T (p.Pro4=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
|
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=)
|
rs41285549
|
|
|
NM_014244.5(ADAMTS2):c.1308G>T (p.Ala436=)
|
|
|
|
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn)
|
rs1554100033
|
|
|
NM_014244.5(ADAMTS2):c.1311C>A (p.Pro437=)
|
rs1158008718
|
|
|
NM_014244.5(ADAMTS2):c.1311C>T (p.Pro437=)
|
rs1158008718
|
|
|
NM_014244.5(ADAMTS2):c.1315del (p.Val439fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1318C>T (p.Gln440Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1319A>G (p.Gln440Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.1320_1321insTATAAGAGACAGT (p.Ala441fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1325C>A (p.Ala442Asp)
|
rs1763419619
|
|
|
NM_014244.5(ADAMTS2):c.1334G>A (p.Arg445His)
|
|
|
|
NM_014244.5(ADAMTS2):c.1335C>T (p.Arg445=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1340A>G (p.His447Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.1343G>C (p.Trp448Ser)
|
rs1763419118
|
|
|
NM_014244.5(ADAMTS2):c.134C>A (p.Pro45His)
|
rs1250691659
|
|
|
NM_014244.5(ADAMTS2):c.1356C>T (p.Ser452=)
|
rs2113252195
|
|
|
NM_014244.5(ADAMTS2):c.1360C>T (p.Gln454Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1362G>A (p.Gln454=)
|
rs2113252179
|
|
|
NM_014244.5(ADAMTS2):c.1365G>A (p.Glu455=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1368G>A (p.Leu456=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1373G>A (p.Arg458His)
|
rs768230986
|
|
|
NM_014244.5(ADAMTS2):c.1377C>A (p.Tyr459Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1378C>T (p.Leu460=)
|
rs2113252098
|
|
|
NM_014244.5(ADAMTS2):c.137del (p.Pro46fs)
|
rs1417947464
|
|
|
NM_014244.5(ADAMTS2):c.1380G>A (p.Leu460=)
|
rs763194834
|
|
|
NM_014244.5(ADAMTS2):c.1382+12C>A
|
rs773245710
|
|
|
NM_014244.5(ADAMTS2):c.1382+14A>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1382+17T>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1382+19C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-11G>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-15G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-16C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-2A>G
|
rs1336175305
|
|
|
NM_014244.5(ADAMTS2):c.1383-3C>A
|
rs1554126056
|
|
|
NM_014244.5(ADAMTS2):c.1383-4A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-5dup
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-6C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-6C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-7C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1383-8C>G
|
rs748944006
|
|
|
NM_014244.5(ADAMTS2):c.1383-9C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1389T>C (p.Tyr463=)
|
|
|
|
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=)
|
rs1181728258
|
|
|
NM_014244.5(ADAMTS2):c.139+12C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.139+14G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.139+17C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.139+19C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.139+19dup
|
|
|
|
NM_014244.5(ADAMTS2):c.139+4G>C
|
rs1023653032
|
|
|
NM_014244.5(ADAMTS2):c.139+6T>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1392C>T (p.Asp464=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1396C>T (p.Leu466=)
|
|
|
|
NM_014244.5(ADAMTS2):c.140-10C>G
|
rs2127463508
|
|
|
NM_014244.5(ADAMTS2):c.140-13C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.140-15C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.140-16C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.140-17G>T
|
|
|
|
NM_014244.5(ADAMTS2):c.140-18C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.140-18C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.140-7G>A
|
rs759954552
|
|
|
NM_014244.5(ADAMTS2):c.140-7G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.140-9C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1407C>A (p.Asp469Glu)
|
|
|
|
NM_014244.5(ADAMTS2):c.1407C>T (p.Asp469=)
|
rs1763409611
|
|
|
NM_014244.5(ADAMTS2):c.1410C>G (p.Pro470=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1434G>A (p.Leu478=)
|
|
|
|
NM_014244.5(ADAMTS2):c.144G>A (p.Gly48=)
|
rs2127463501
|
|
|
NM_014244.5(ADAMTS2):c.1452G>A (p.Leu484=)
|
rs2113250612
|
|
|
NM_014244.5(ADAMTS2):c.1476C>A (p.Cys492Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1477C>T (p.Arg493Cys)
|
rs779902229
|
|
|
NM_014244.5(ADAMTS2):c.1479C>G (p.Arg493=)
|
rs901870480
|
|
|
NM_014244.5(ADAMTS2):c.147C>T (p.Pro49=)
|
|
|
|
NM_014244.5(ADAMTS2):c.148C>G (p.Leu50Val)
|
|
|
|
NM_014244.5(ADAMTS2):c.148C>T (p.Leu50=)
|
rs1757867571
|
|
|
NM_014244.5(ADAMTS2):c.1491C>T (p.Gly497=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1497C>G (p.Gly499=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1500C>T (p.Tyr500=)
|
rs1763406502
|
|
|
NM_014244.5(ADAMTS2):c.150G>T (p.Leu50=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1512G>C (p.Thr504=)
|
rs141369064
|
|
|
NM_014244.5(ADAMTS2):c.1513dup (p.Ala505fs)
|
rs1763406117
|
|
|
NM_014244.5(ADAMTS2):c.1515+10C>G
|
rs1044323118
|
|
|
NM_014244.5(ADAMTS2):c.1515+17G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1515+18C>T
|
rs771376424
|
|
|
NM_014244.5(ADAMTS2):c.1515+8T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1515+9G>T
|
rs1269715966
|
|
|
NM_014244.5(ADAMTS2):c.1516-11C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1516-12G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1516-13T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1516-20_1516-19del
|
|
|
|
NM_014244.5(ADAMTS2):c.1516-3C>T
|
rs1763376048
|
|
|
NM_014244.5(ADAMTS2):c.1516-4C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1516-7C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1530C>T (p.Asp510=)
|
rs2113246787
|
|
|
NM_014244.5(ADAMTS2):c.153dup (p.His52fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1545G>A (p.Leu515=)
|
rs2113246753
|
|
|
NM_014244.5(ADAMTS2):c.1560T>C (p.Pro520=)
|
rs756375016
|
|
|
NM_014244.5(ADAMTS2):c.156C>T (p.His52=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1575T>C (p.Phe525=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1587G>A (p.Lys529=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1593G>A (p.Gly531=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1593G>C (p.Gly531=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1599C>A (p.Pro533=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1599C>T (p.Pro533=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1599dup (p.Asp535fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.15G>C (p.Ala5=)
|
rs1757918431
|
|
|
NM_014244.5(ADAMTS2):c.15G>T (p.Ala5=)
|
rs1757918431
|
|
|
NM_014244.5(ADAMTS2):c.1602G>A (p.Leu534=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1608G>T (p.Gly536=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1611T>G (p.Thr537=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1612_1613del (p.Met538fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1617T>C (p.Cys539=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1619C>T (p.Ala540Val)
|
|
|
|
NM_014244.5(ADAMTS2):c.1622C>T (p.Pro541Leu)
|
|
|
|
NM_014244.5(ADAMTS2):c.1626C>G (p.Gly542=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1629+11A>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1629+20T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1630-18T>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1630-19C>A
|
rs2113223531
|
|
|
NM_014244.5(ADAMTS2):c.1630-46G>A
|
rs34369919
|
|
|
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter)
|
rs1554125059
|
|
|
NM_014244.5(ADAMTS2):c.1647C>T (p.His549=)
|
rs2113223410
|
|
|
NM_014244.5(ADAMTS2):c.1650C>T (p.Cys550=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1653C>T (p.Ile551=)
|
rs747238964
|
|
|
NM_014244.5(ADAMTS2):c.1659G>A (p.Leu553=)
|
|
|
|
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp)
|
rs1581300233
|
|
|
NM_014244.5(ADAMTS2):c.1665T>C (p.Pro555=)
|
rs2113223348
|
|
|
NM_014244.5(ADAMTS2):c.1668C>T (p.Asp556=)
|
rs2113223337
|
|
|
NM_014244.5(ADAMTS2):c.1669A>G (p.Ile557Val)
|
rs1400281876
|
|
|
NM_014244.5(ADAMTS2):c.1679G>A (p.Arg560Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu)
|
rs368700721
|
|
|
NM_014244.5(ADAMTS2):c.1686C>T (p.Gly562=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1696G>A (p.Ala566Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1701G>T (p.Trp567Cys)
|
rs2113223246
|
|
|
NM_014244.5(ADAMTS2):c.1707G>C (p.Pro569=)
|
rs749970172
|
|
|
NM_014244.5(ADAMTS2):c.1712G>A (p.Gly571Asp)
|
|
|
|
NM_014244.5(ADAMTS2):c.1713C>T (p.Gly571=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1725T>C (p.Arg575=)
|
rs2113223195
|
|
|
NM_014244.5(ADAMTS2):c.1728C>T (p.Thr576=)
|
rs776539764
|
|
|
NM_014244.5(ADAMTS2):c.1740C>T (p.Gly580=)
|
rs745886151
|
|
|
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=)
|
rs1763133750
|
|
|
NM_014244.5(ADAMTS2):c.1750A>C (p.Arg584=)
|
rs2113223107
|
|
|
NM_014244.5(ADAMTS2):c.1755C>T (p.Thr585=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1761G>C (p.Gln587His)
|
|
|
|
NM_014244.5(ADAMTS2):c.1775+13C>A
|
rs2113223021
|
|
|
NM_014244.5(ADAMTS2):c.1775+9G>T
|
rs2113223038
|
|
|
NM_014244.5(ADAMTS2):c.1776-10T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1776-11T>C
|
rs1763095114
|
|
|
NM_014244.5(ADAMTS2):c.1776-19C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1776-7C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1776-8T>C
|
rs1763095009
|
|
|
NM_014244.5(ADAMTS2):c.1776-8T>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1776-9C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1776-9C>T
|
rs1763095056
|
|
|
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln)
|
rs1561773783
|
|
|
NM_014244.5(ADAMTS2):c.1778C>T (p.Pro593Leu)
|
rs373020640
|
|
|
NM_014244.5(ADAMTS2):c.177G>A (p.Ala59=)
|
rs2127463492
|
|
|
NM_014244.5(ADAMTS2):c.1782C>T (p.Ala594=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1783A>G (p.Asn595Asp)
|
rs2113218874
|
|
|
NM_014244.5(ADAMTS2):c.1788G>A (p.Gly596=)
|
rs2113218858
|
|
|
NM_014244.5(ADAMTS2):c.1791C>A (p.Gly597=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1800C>T (p.Cys600=)
|
rs2113218813
|
|
|
NM_014244.5(ADAMTS2):c.1803G>C (p.Ser601=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1803_1827del (p.Gly602fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1822C>T (p.Gln608Ter)
|
rs2113218754
|
|
|
NM_014244.5(ADAMTS2):c.1824G>A (p.Gln608=)
|
rs1581147040
|
|
|
NM_014244.5(ADAMTS2):c.1825C>T (p.Leu609Phe)
|
rs757961083
|
|
|
NM_014244.5(ADAMTS2):c.1830C>T (p.Cys610=)
|
rs2113218723
|
|
|
NM_014244.5(ADAMTS2):c.1833C>T (p.Ser611=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1835G>A (p.Arg612His)
|
rs1763093799
|
|
|
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)
|
rs375775300
|
|
|
NM_014244.5(ADAMTS2):c.183C>T (p.Pro61=)
|
rs375775300
|
|
|
NM_014244.5(ADAMTS2):c.1845C>A (p.Cys615Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1845C>T (p.Cys615=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)
|
rs569510744
|
|
|
NM_014244.5(ADAMTS2):c.1849G>A (p.Asp617Asn)
|
|
|
|
NM_014244.5(ADAMTS2):c.1866C>T (p.Phe622=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1869C>A (p.Arg623=)
|
rs376058580
|
|
|
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)
|
rs376058580
|
|
|
NM_014244.5(ADAMTS2):c.186G>A (p.Val62=)
|
rs2127463488
|
|
|
NM_014244.5(ADAMTS2):c.1882C>T (p.Arg628Cys)
|
rs984794583
|
|
|
NM_014244.5(ADAMTS2):c.18A>G (p.Gly6=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1903G>T (p.Glu635Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1904A>G (p.Glu635Gly)
|
rs1763091963
|
|
|
NM_014244.5(ADAMTS2):c.1905G>A (p.Glu635=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1906C>T (p.His636Tyr)
|
|
|
|
NM_014244.5(ADAMTS2):c.1911C>G (p.Gly637=)
|
rs142275705
|
|
|
NM_014244.5(ADAMTS2):c.1917C>A (p.Ala639=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1920G>A (p.Gln640=)
|
rs2113218417
|
|
|
NM_014244.5(ADAMTS2):c.1923C>T (p.His641=)
|
rs2113218407
|
|
|
NM_014244.5(ADAMTS2):c.1925_1934del (p.His642fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.1928_1929delinsAC (p.Trp643Tyr)
|
rs1763091339
|
|
|
NM_014244.5(ADAMTS2):c.192T>C (p.Thr64=)
|
|
|
|
NM_014244.5(ADAMTS2):c.192T>G (p.Thr64=)
|
rs1276616753
|
|
|
NM_014244.5(ADAMTS2):c.1935C>G (p.Pro645=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1938C>T (p.His646=)
|
rs867867813
|
|
|
NM_014244.5(ADAMTS2):c.1941G>A (p.Glu647=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1945C>T (p.Arg649Trp)
|
|
|
|
NM_014244.5(ADAMTS2):c.1951+15G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1951+16A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1951+17G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.1951+3G>T
|
rs1181830676
|
|
|
NM_014244.5(ADAMTS2):c.1951+8C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1952-11T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1952-17A>C
|
|
|
|
NM_014244.5(ADAMTS2):c.1952-18del
|
|
|
|
NM_014244.5(ADAMTS2):c.1952-20C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1952-20C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1952-23_1952-16del
|
rs773015606
|
|
|
NM_014244.5(ADAMTS2):c.1952-9C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.1952-9C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.1974C>T (p.Tyr658=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1976_1977delinsAG (p.Cys659Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1977C>A (p.Cys659Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)
|
rs758599662
|
|
|
NM_014244.5(ADAMTS2):c.1989G>A (p.Glu663=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1992C>T (p.Thr664=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1995G>A (p.Gly665=)
|
|
|
|
NM_014244.5(ADAMTS2):c.1997A>T (p.Glu666Val)
|
rs2113214603
|
|
|
NM_014244.5(ADAMTS2):c.2004G>A (p.Val668=)
|
rs531056355
|
|
|
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg)
|
rs745588970
|
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
|
NM_014244.5(ADAMTS2):c.2017A>G (p.Met673Val)
|
|
|
|
NM_014244.5(ADAMTS2):c.2018T>C (p.Met673Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu)
|
rs144554943
|
|
|
NM_014244.5(ADAMTS2):c.2040C>T (p.Cys680=)
|
rs2113214443
|
|
|
NM_014244.5(ADAMTS2):c.2043C>T (p.Ser681=)
|
rs1239463457
|
|
|
NM_014244.5(ADAMTS2):c.2043del (p.Tyr682fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.2046C>T (p.Tyr682=)
|
rs2113214436
|
|
|
NM_014244.5(ADAMTS2):c.2047A>G (p.Lys683Glu)
|
|
|
|
NM_014244.5(ADAMTS2):c.204C>G (p.Gly68=)
|
rs1264559270
|
|
|
NM_014244.5(ADAMTS2):c.2052C>G (p.Asp684Glu)
|
|
|
|
NM_014244.5(ADAMTS2):c.2054C>T (p.Ala685Val)
|
|
|
|
NM_014244.5(ADAMTS2):c.2055C>T (p.Ala685=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2058C>T (p.Phe686=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2070G>A (p.Val690=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2071C>A (p.Arg691Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.2071C>T (p.Arg691Cys)
|
|
|
|
NM_014244.5(ADAMTS2):c.2072G>A (p.Arg691His)
|
|
|
|
NM_014244.5(ADAMTS2):c.2075G>A (p.Gly692Glu)
|
|
|
|
NM_014244.5(ADAMTS2):c.2080T>C (p.Cys694Arg)
|
rs1581145754
|
|
|
NM_014244.5(ADAMTS2):c.2085+10C>T
|
rs2113214298
|
|
|
NM_014244.5(ADAMTS2):c.2085+16C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2085+17C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2085+7A>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2085+8C>T
|
rs199825726
|
|
|
NM_014244.5(ADAMTS2):c.2086-10C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2086-14T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2086-15C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2086-15C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2086-5A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2086-6C>T
|
rs2113206493
|
|
|
NM_014244.5(ADAMTS2):c.2086-7C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2086-9C>T
|
rs2113206511
|
|
|
NM_014244.5(ADAMTS2):c.2094C>G (p.Gly698=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2112C>T (p.Gly704=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2130C>T (p.Asp710=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2140G>A (p.Val714Met)
|
|
|
|
NM_014244.5(ADAMTS2):c.2146G>C (p.Gly716Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.2157C>T (p.Asn719=)
|
|
|
|
NM_014244.5(ADAMTS2):c.215C>T (p.Ser72Phe)
|
|
|
|
NM_014244.5(ADAMTS2):c.2163C>T (p.His721=)
|
rs774087568
|
|
|
NM_014244.5(ADAMTS2):c.216C>A (p.Ser72=)
|
rs754117015
|
|
|
NM_014244.5(ADAMTS2):c.216C>G (p.Ser72=)
|
rs754117015
|
|
|
NM_014244.5(ADAMTS2):c.2175C>T (p.Val725=)
|
rs2113206249
|
|
|
NM_014244.5(ADAMTS2):c.2192G>A (p.Arg731Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.2196A>G (p.Ser732=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2198C>G (p.Pro733Arg)
|
rs1581143324
|
|
|
NM_014244.5(ADAMTS2):c.21C>G (p.Ala7=)
|
rs1757917963
|
|
|
NM_014244.5(ADAMTS2):c.21C>T (p.Ala7=)
|
|
|
|
NM_014244.5(ADAMTS2):c.21del (p.Ala8fs)
|
rs2127463933
|
|
|
NM_014244.5(ADAMTS2):c.2208T>C (p.His736=)
|
rs2113206149
|
|
|
NM_014244.5(ADAMTS2):c.2209+12C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2209+14T>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2209+18C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2209+20C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2209+8G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2210-21_2210-20del
|
rs531944108
|
|
|
NM_014244.5(ADAMTS2):c.2210-2del
|
rs1219329381
|
|
|
NM_014244.5(ADAMTS2):c.2210-4A>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2210-4A>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2210-6A>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2210-9C>T
|
rs199874212
|
|
|
NM_014244.5(ADAMTS2):c.2210G>T (p.Gly737Val)
|
|
|
|
NM_014244.5(ADAMTS2):c.2214C>T (p.Tyr738=)
|
rs769653741
|
|
|
NM_014244.5(ADAMTS2):c.2215A>G (p.Ile739Val)
|
rs762128833
|
|
|
NM_014244.5(ADAMTS2):c.2217C>T (p.Ile739=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2218A>G (p.Lys740Glu)
|
rs946826671
|
|
|
NM_014244.5(ADAMTS2):c.2226T>C (p.Phe742=)
|
|
|
|
NM_014244.5(ADAMTS2):c.222G>A (p.Val74=)
|
|
|
|
NM_014244.5(ADAMTS2):c.222G>C (p.Val74=)
|
rs2127463467
|
|
|
NM_014244.5(ADAMTS2):c.2242G>A (p.Ala748Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.2244C>T (p.Ala748=)
|
rs1581143017
|
|
|
NM_014244.5(ADAMTS2):c.2258T>C (p.Ile753Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.2262G>A (p.Gln754=)
|
rs2113204986
|
|
|
NM_014244.5(ADAMTS2):c.2268A>T (p.Val756=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2275A>G (p.Thr759Ala)
|
|
|
|
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn)
|
rs886060493
|
|
|
NM_014244.5(ADAMTS2):c.227C>A (p.Ser76Ter)
|
rs916172129
|
|
|
NM_014244.5(ADAMTS2):c.228G>A (p.Ser76=)
|
rs1162154516
|
|
|
NM_014244.5(ADAMTS2):c.228G>C (p.Ser76=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2290+10A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2290+15C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2290+18A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2290+19C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2290+9C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2291-10C>T
|
rs753601981
|
|
|
NM_014244.5(ADAMTS2):c.2291-17G>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2291-18T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2291-4T>G
|
rs2113200420
|
|
|
NM_014244.5(ADAMTS2):c.2291-9del
|
|
|
|
NM_014244.5(ADAMTS2):c.2295C>G (p.Val765=)
|
|
|
|
NM_014244.5(ADAMTS2):c.22G>A (p.Ala8Thr)
|
rs1267078082
|
|
|
NM_014244.5(ADAMTS2):c.2304G>T (p.Leu768=)
|
rs936271491
|
|
|
NM_014244.5(ADAMTS2):c.2310A>G (p.Thr770=)
|
rs2113200354
|
|
|
NM_014244.5(ADAMTS2):c.2316G>A (p.Lys772=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2316del (p.Lys772fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.231A>C (p.Ala77=)
|
rs2127463463
|
|
|
NM_014244.5(ADAMTS2):c.2331A>G (p.Glu777=)
|
rs2113200307
|
|
|
NM_014244.5(ADAMTS2):c.2334G>A (p.Glu778=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2340C>T (p.Asp780=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2352T>C (p.Ser784=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2356A>G (p.Lys786Glu)
|
rs979142284
|
|
|
NM_014244.5(ADAMTS2):c.236C>T (p.Thr79Met)
|
rs1054586627
|
|
|
NM_014244.5(ADAMTS2):c.2372del (p.Met791fs)
|
rs2113200198
|
|
|
NM_014244.5(ADAMTS2):c.2377G>A (p.Val793Met)
|
|
|
|
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=)
|
rs745407557
|
|
|
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)
|
rs137853147
|
|
|
NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter)
|
rs1762930637
|
|
|
NM_014244.5(ADAMTS2):c.2388G>A (p.Glu796=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys)
|
rs747447840
|
|
|
NM_014244.5(ADAMTS2):c.2398G>T (p.Glu800Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.2404G>A (p.Gly802Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.2407C>G (p.Arg803Gly)
|
|
|
|
NM_014244.5(ADAMTS2):c.2407C>T (p.Arg803Trp)
|
|
|
|
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met)
|
rs370350117
|
|
|
NM_014244.5(ADAMTS2):c.2418G>A (p.Leu806=)
|
rs1191831330
|
|
|
NM_014244.5(ADAMTS2):c.2422del (p.Thr808fs)
|
rs2113200020
|
|
|
NM_014244.5(ADAMTS2):c.2430C>A (p.Gly810=)
|
rs762314815
|
|
|
NM_014244.5(ADAMTS2):c.243A>G (p.Arg81=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2440_2445del (p.Gly814_Thr815del)
|
|
|
|
NM_014244.5(ADAMTS2):c.2448C>T (p.Ile816=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2450C>G (p.Thr817Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.2452G>A (p.Val818Ile)
|
|
|
|
NM_014244.5(ADAMTS2):c.2454T>A (p.Val818=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2454T>C (p.Val818=)
|
rs2113199908
|
|
|
NM_014244.5(ADAMTS2):c.2455C>T (p.Leu819=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2457+12C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2457+13A>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2457+16G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2457+17C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2457+1G>A
|
rs2113199896
|
|
|
NM_014244.5(ADAMTS2):c.2457+7C>A
|
rs777818449
|
|
|
NM_014244.5(ADAMTS2):c.2457+7C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2458-10del
|
rs748892203
|
|
|
NM_014244.5(ADAMTS2):c.2458-15C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2458-18G>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2458-2A>G
|
rs1762893262
|
|
|
NM_014244.5(ADAMTS2):c.2458-4dup
|
rs2113196203
|
|
|
NM_014244.5(ADAMTS2):c.2458-6G>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2458-6_2458del
|
rs1057517277
|
|
|
NM_014244.5(ADAMTS2):c.2465C>T (p.Pro822Leu)
|
rs777107579
|
|
|
NM_014244.5(ADAMTS2):c.2466G>T (p.Pro822=)
|
rs377085746
|
|
|
NM_014244.5(ADAMTS2):c.246A>G (p.Ala82=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2472A>C (p.Gly824=)
|
rs1581140650
|
|
|
NM_014244.5(ADAMTS2):c.2477C>T (p.Thr826Ile)
|
|
|
|
NM_014244.5(ADAMTS2):c.2479C>A (p.Arg827=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2486C>A (p.Ser829Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.2487A>G (p.Ser829=)
|
rs201592583
|
|
|
NM_014244.5(ADAMTS2):c.2493G>A (p.Thr831=)
|
rs1210832473
|
|
|
NM_014244.5(ADAMTS2):c.2499A>G (p.Lys833=)
|
|
|
|
NM_014244.5(ADAMTS2):c.249G>A (p.Gly83=)
|
rs1757863304
|
|
|
NM_014244.5(ADAMTS2):c.249G>C (p.Gly83=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2502C>T (p.Tyr834=)
|
rs1230842657
|
|
|
NM_014244.5(ADAMTS2):c.2506A>C (p.Ile836Leu)
|
|
|
|
NM_014244.5(ADAMTS2):c.2508C>T (p.Ile836=)
|
rs1275040573
|
|
|
NM_014244.5(ADAMTS2):c.2514G>A (p.Glu838=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2530GAC[1] (p.Asp845del)
|
rs779695756
|
|
|
NM_014244.5(ADAMTS2):c.253C>A (p.Arg85=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2541C>T (p.Asn847=)
|
rs1436992389
|
|
|
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=)
|
rs1581140577
|
|
|
NM_014244.5(ADAMTS2):c.2547G>A (p.Leu849=)
|
rs1202859803
|
|
|
NM_014244.5(ADAMTS2):c.2559T>A (p.Ser853=)
|
rs772792600
|
|
|
NM_014244.5(ADAMTS2):c.255A>C (p.Arg85=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2561_2562del (p.Val854fs)
|
rs1554124086
|
|
|
NM_014244.5(ADAMTS2):c.2565C>A (p.Val855=)
|
rs2113195729
|
|
|
NM_014244.5(ADAMTS2):c.2569G>A (p.Glu857Lys)
|
|
|
|
NM_014244.5(ADAMTS2):c.2569G>T (p.Glu857Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.2578C>T (p.Leu860=)
|
|
|
|
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=)
|
rs886060497
|
|
|
NM_014244.5(ADAMTS2):c.2591C>T (p.Ser864Phe)
|
|
|
|
NM_014244.5(ADAMTS2):c.2595G>A (p.Pro865=)
|
rs142355768
|
|
|
NM_014244.5(ADAMTS2):c.2595G>T (p.Pro865=)
|
rs142355768
|
|
|
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val)
|
rs1338541722
|
|
|
NM_014244.5(ADAMTS2):c.2617+13C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2617+13C>T
|
rs756651045
|
|
|
NM_014244.5(ADAMTS2):c.2617+14G>A
|
rs753127866
|
|
|
NM_014244.5(ADAMTS2):c.2617+7G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2617+8G>A
|
rs2113195552
|
|
|
NM_014244.5(ADAMTS2):c.2617+9G>A
|
rs943437047
|
|
|
NM_014244.5(ADAMTS2):c.2617+9G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2617+9del
|
rs745450151
|
|
|
NM_014244.5(ADAMTS2):c.2617+9dup
|
rs745450151
|
|
|
NM_014244.5(ADAMTS2):c.2618-17G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2618-9T>C
|
rs2113190668
|
|
|
NM_014244.5(ADAMTS2):c.261C>T (p.Arg87=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2622C>T (p.Ser874=)
|
rs2113190624
|
|
|
NM_014244.5(ADAMTS2):c.2626T>C (p.Phe876Leu)
|
|
|
|
NM_014244.5(ADAMTS2):c.2631C>T (p.Thr877=)
|
rs2113190594
|
|
|
NM_014244.5(ADAMTS2):c.2634G>A (p.Lys878=)
|
rs370686613
|
|
|
NM_014244.5(ADAMTS2):c.2634G>C (p.Lys878Asn)
|
|
|
|
NM_014244.5(ADAMTS2):c.2637T>C (p.Tyr879=)
|
rs1762852594
|
|
|
NM_014244.5(ADAMTS2):c.2644C>T (p.Arg882Cys)
|
|
|
|
NM_014244.5(ADAMTS2):c.2655G>A (p.Leu885=)
|
rs2113190514
|
|
|
NM_014244.5(ADAMTS2):c.265del (p.Ala89fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.2666T>C (p.Met889Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.2673C>T (p.His891=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2674C>T (p.Arg892Cys)
|
rs1554123906
|
|
|
NM_014244.5(ADAMTS2):c.267C>A (p.Ala89=)
|
rs2127463442
|
|
|
NM_014244.5(ADAMTS2):c.267C>G (p.Ala89=)
|
rs2127463442
|
|
|
NM_014244.5(ADAMTS2):c.267C>T (p.Ala89=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2682C>T (p.Phe894=)
|
|
|
|
NM_014244.5(ADAMTS2):c.268G>A (p.Ala90Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.2691C>T (p.Ala897=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2703C>G (p.Pro901=)
|
rs2113190367
|
|
|
NM_014244.5(ADAMTS2):c.2703C>T (p.Pro901=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2716A>T (p.Arg906Ter)
|
rs2113190301
|
|
|
NM_014244.5(ADAMTS2):c.2721G>C (p.Ala907=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2730A>T (p.Pro910=)
|
rs6869261
|
|
|
NM_014244.5(ADAMTS2):c.2739C>T (p.Cys913=)
|
|
|
|
NM_014244.5(ADAMTS2):c.273G>A (p.Pro91=)
|
rs768036305
|
|
|
NM_014244.5(ADAMTS2):c.273G>T (p.Pro91=)
|
rs768036305
|
|
|
NM_014244.5(ADAMTS2):c.2742C>G (p.Ser914=)
|
rs567635584
|
|
|
NM_014244.5(ADAMTS2):c.2745G>A (p.Gln915=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2748A>G (p.Pro916=)
|
rs2113190158
|
|
|
NM_014244.5(ADAMTS2):c.274del (p.Val92fs)
|
rs2127463432
|
|
|
NM_014244.5(ADAMTS2):c.2750+12dup
|
|
|
|
NM_014244.5(ADAMTS2):c.2750+14G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2750+14G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2750+15C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2750+16T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2750+17C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2750+18G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2750+3G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2751-14C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2751-16C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2751-16dup
|
|
|
|
NM_014244.5(ADAMTS2):c.2751-19C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2751-19C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2751-20G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2751-4G>T
|
rs112155474
|
|
|
NM_014244.5(ADAMTS2):c.2751-8C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.2757C>T (p.Val919=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2768G>A (p.Trp923Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.2773C>A (p.Pro925Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn)
|
rs1193602528
|
|
|
NM_014244.5(ADAMTS2):c.2787C>A (p.Thr929=)
|
rs149424876
|
|
|
NM_014244.5(ADAMTS2):c.2787C>T (p.Thr929=)
|
rs149424876
|
|
|
NM_014244.5(ADAMTS2):c.2790T>C (p.Cys930=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2793G>A (p.Gly931=)
|
rs2113187995
|
|
|
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala)
|
rs886060492
|
|
|
NM_014244.5(ADAMTS2):c.279G>C (p.Arg93=)
|
|
|
|
NM_014244.5(ADAMTS2):c.27_28insTCTTATACACATCTGTG (p.Arg10fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.2814C>T (p.Arg938=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2820G>A (p.Val940=)
|
rs2113187899
|
|
|
NM_014244.5(ADAMTS2):c.2821C>A (p.Arg941Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.2826C>T (p.Cys942=)
|
rs1397278885
|
|
|
NM_014244.5(ADAMTS2):c.282C>A (p.Thr94=)
|
|
|
|
NM_014244.5(ADAMTS2):c.282C>T (p.Thr94=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2832G>A (p.Gln944=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu)
|
rs200309353
|
|
|
NM_014244.5(ADAMTS2):c.2840A>G (p.His947Arg)
|
rs1762831111
|
|
|
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del)
|
rs765659887
|
|
|
NM_014244.5(ADAMTS2):c.2849C>T (p.Thr950Ile)
|
rs1762830772
|
|
|
NM_014244.5(ADAMTS2):c.284C>T (p.Pro95Leu)
|
|
|
|
NM_014244.5(ADAMTS2):c.2853C>A (p.Thr951=)
|
rs372360565
|
|
|
NM_014244.5(ADAMTS2):c.285G>C (p.Pro95=)
|
rs1757861087
|
|
|
NM_014244.5(ADAMTS2):c.285G>T (p.Pro95=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2885C>T (p.Ala962Val)
|
|
|
|
NM_014244.5(ADAMTS2):c.2888G>A (p.Arg963Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.2889G>A (p.Arg963=)
|
|
|
|
NM_014244.5(ADAMTS2):c.28_29insAGATGTGTATA (p.Arg10fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His)
|
rs775213299
|
|
|
NM_014244.5(ADAMTS2):c.2901C>T (p.Arg967=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2904G>T (p.Arg968=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2907C>T (p.Ala969=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2916C>A (p.Arg972=)
|
rs201390812
|
|
|
NM_014244.5(ADAMTS2):c.2925C>T (p.Cys975=)
|
rs1762828613
|
|
|
NM_014244.5(ADAMTS2):c.2927del (p.Pro976fs)
|
rs1762828499
|
|
|
NM_014244.5(ADAMTS2):c.2928T>C (p.Pro976=)
|
|
|
|
NM_014244.5(ADAMTS2):c.292C>G (p.Pro98Ala)
|
rs2127463418
|
|
|
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp)
|
rs1200659345
|
|
|
NM_014244.5(ADAMTS2):c.2938C>A (p.Arg980=)
|
|
|
|
NM_014244.5(ADAMTS2):c.293C>G (p.Pro98Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.2940A>C (p.Arg980=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2944G>A (p.Gly982Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.294C>A (p.Pro98=)
|
|
|
|
NM_014244.5(ADAMTS2):c.294C>G (p.Pro98=)
|
|
|
|
NM_014244.5(ADAMTS2):c.294C>T (p.Pro98=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2955C>T (p.Ser985=)
|
|
|
|
NM_014244.5(ADAMTS2):c.2958+10C>G
|
rs955501546
|
|
|
NM_014244.5(ADAMTS2):c.2958+10C>T
|
rs955501546
|
|
|
NM_014244.5(ADAMTS2):c.2958+11C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2958+14del
|
rs755404765
|
|
|
NM_014244.5(ADAMTS2):c.2958+15G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2958+18C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2958+8A>G
|
rs2113187351
|
|
|
NM_014244.5(ADAMTS2):c.2959-10C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.2959-13T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.2959-14C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.2959-16G>T
|
rs6863024
|
|
|
NM_014244.5(ADAMTS2):c.2959-4G>A
|
rs2113181889
|
|
|
NM_014244.5(ADAMTS2):c.2959-5del
|
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NM_014244.5(ADAMTS2):c.2959-6C>G
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rs2113181904
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NM_014244.5(ADAMTS2):c.2959-6C>T
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rs2113181904
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NM_014244.5(ADAMTS2):c.2959-7C>G
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rs748783596
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NM_014244.5(ADAMTS2):c.2959-7C>T
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NM_014244.5(ADAMTS2):c.2961C>T (p.Cys987=)
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rs1581137330
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NM_014244.5(ADAMTS2):c.2964A>G (p.Ser988=)
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NM_014244.5(ADAMTS2):c.2965G>C (p.Val989Leu)
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rs2113181846
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NM_014244.5(ADAMTS2):c.2970C>G (p.Thr990=)
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NM_014244.5(ADAMTS2):c.297A>G (p.Gly99=)
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NM_014244.5(ADAMTS2):c.2991G>A (p.Glu997=)
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rs1581137308
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NM_014244.5(ADAMTS2):c.3000G>C (p.Val1000=)
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NM_014244.5(ADAMTS2):c.3003C>T (p.Leu1001=)
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rs2113181708
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NM_014244.5(ADAMTS2):c.3005del (p.Cys1002fs)
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NM_014244.5(ADAMTS2):c.3007del (p.Arg1003fs)
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NM_014244.5(ADAMTS2):c.3012C>A (p.Thr1004=)
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rs571054777
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NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)
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rs571054777
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NM_014244.5(ADAMTS2):c.3013G>A (p.Ala1005Thr)
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NM_014244.5(ADAMTS2):c.3015G>A (p.Ala1005=)
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NM_014244.5(ADAMTS2):c.3015G>T (p.Ala1005=)
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rs1462683964
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NM_014244.5(ADAMTS2):c.3019G>A (p.Asp1007Asn)
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NM_014244.5(ADAMTS2):c.3026_3027delinsAA (p.Phe1009Ter)
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NM_014244.5(ADAMTS2):c.3030C>A (p.Gly1010=)
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NM_014244.5(ADAMTS2):c.3046C>T (p.Arg1016Cys)
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NM_014244.5(ADAMTS2):c.3047G>T (p.Arg1016Leu)
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rs746802388
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NM_014244.5(ADAMTS2):c.3047_3048delinsTC (p.Arg1016Leu)
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rs1762785033
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NM_014244.5(ADAMTS2):c.3048T>C (p.Arg1016=)
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rs780184702
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NM_014244.5(ADAMTS2):c.3051T>C (p.Pro1017=)
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rs2113181493
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NM_014244.5(ADAMTS2):c.3062G>A (p.Arg1021Lys)
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rs2113181448
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NM_014244.5(ADAMTS2):c.3063G>A (p.Arg1021=)
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NM_014244.5(ADAMTS2):c.3066C>T (p.Thr1022=)
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NM_014244.5(ADAMTS2):c.3069C>T (p.Cys1023=)
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rs2113181422
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NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs)
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rs1554123627
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NM_014244.5(ADAMTS2):c.3072G>A (p.Arg1024=)
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NM_014244.5(ADAMTS2):c.3072G>T (p.Arg1024Ser)
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rs1762784582
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NM_014244.5(ADAMTS2):c.3078C>A (p.Gly1026=)
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rs886060491
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NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=)
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rs886060491
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NM_014244.5(ADAMTS2):c.3080C>T (p.Pro1027Leu)
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rs1340671554
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NM_014244.5(ADAMTS2):c.3088+12G>A
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NM_014244.5(ADAMTS2):c.3088+16C>G
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NM_014244.5(ADAMTS2):c.3088+16_3088+17insGCGCCT
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NM_014244.5(ADAMTS2):c.3088+7C>T
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NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter)
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rs966437723
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NM_014244.5(ADAMTS2):c.3089-13C>G
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NM_014244.5(ADAMTS2):c.3089-17C>T
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NM_014244.5(ADAMTS2):c.3089-19C>G
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NM_014244.5(ADAMTS2):c.3089-20C>A
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NM_014244.5(ADAMTS2):c.3089-20C>T
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NM_014244.5(ADAMTS2):c.3089-6C>T
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rs1210414674
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NM_014244.5(ADAMTS2):c.3089-8C>G
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NM_014244.5(ADAMTS2):c.3089-8C>T
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NM_014244.5(ADAMTS2):c.3097T>C (p.Ser1033Pro)
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NM_014244.5(ADAMTS2):c.30C>A (p.Arg10=)
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rs1757917460
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NM_014244.5(ADAMTS2):c.30C>T (p.Arg10=)
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NM_014244.5(ADAMTS2):c.3102T>C (p.Asp1034=)
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NM_014244.5(ADAMTS2):c.3105C>G (p.Pro1035=)
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NM_014244.5(ADAMTS2):c.3108C>T (p.Ser1036=)
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NM_014244.5(ADAMTS2):c.310G>A (p.Glu104Lys)
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rs1757859981
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NM_014244.5(ADAMTS2):c.310dup (p.Glu104fs)
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rs2127463403
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NM_014244.5(ADAMTS2):c.3117C>T (p.Ser1039=)
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rs1374731675
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NM_014244.5(ADAMTS2):c.3140G>A (p.Arg1047His)
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rs1413406706
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NM_014244.5(ADAMTS2):c.3145G>A (p.Asp1049Asn)
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NM_014244.5(ADAMTS2):c.3147C>T (p.Asp1049=)
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NM_014244.5(ADAMTS2):c.314C>G (p.Pro105Arg)
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rs1757859721
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NM_014244.5(ADAMTS2):c.3156G>T (p.Ser1052=)
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NM_014244.5(ADAMTS2):c.3158C>A (p.Pro1053His)
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NM_014244.5(ADAMTS2):c.3159C>T (p.Pro1053=)
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rs1355717119
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NM_014244.5(ADAMTS2):c.315T>C (p.Pro105=)
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NM_014244.5(ADAMTS2):c.3161_3163del (p.Ile1054del)
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NM_014244.5(ADAMTS2):c.3174G>A (p.Ser1058=)
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rs1167217144
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NM_014244.5(ADAMTS2):c.3174G>C (p.Ser1058=)
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rs1167217144
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NM_014244.5(ADAMTS2):c.3174G>T (p.Ser1058=)
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NM_014244.5(ADAMTS2):c.3178+10C>G
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NM_014244.5(ADAMTS2):c.3178+11C>T
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NM_014244.5(ADAMTS2):c.3178+12G>T
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rs1053898928
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NM_014244.5(ADAMTS2):c.3178+15_3178+18del
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NM_014244.5(ADAMTS2):c.3178+17T>C
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NM_014244.5(ADAMTS2):c.3178+20C>T
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NM_014244.5(ADAMTS2):c.3178+4A>G
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rs948167718
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NM_014244.5(ADAMTS2):c.3178+5C>T
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NM_014244.5(ADAMTS2):c.3178+7G>C
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NM_014244.5(ADAMTS2):c.3178+7G>T
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rs774767519
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NM_014244.5(ADAMTS2):c.3178+8A>G
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rs2113178579
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NM_014244.5(ADAMTS2):c.3179-14C>T
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NM_014244.5(ADAMTS2):c.3179-19T>C
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NM_014244.5(ADAMTS2):c.3179-1del
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NM_014244.5(ADAMTS2):c.3179-4T>A
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rs2113162098
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NM_014244.5(ADAMTS2):c.3204A>C (p.Ser1068=)
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rs2113162029
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NM_014244.5(ADAMTS2):c.3216G>A (p.Arg1072=)
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rs1233299160
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NM_014244.5(ADAMTS2):c.3219G>A (p.Met1073Ile)
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NM_014244.5(ADAMTS2):c.3231C>T (p.Ser1077=)
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NM_014244.5(ADAMTS2):c.3234C>G (p.Arg1078=)
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rs1581132640
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NM_014244.5(ADAMTS2):c.3237T>C (p.Tyr1079=)
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rs2113161951
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NM_014244.5(ADAMTS2):c.3249A>C (p.Pro1083=)
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rs1581132628
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NM_014244.5(ADAMTS2):c.3252C>T (p.Gly1084=)
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rs1402465914
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NM_014244.5(ADAMTS2):c.3255C>T (p.Tyr1085=)
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rs1438867174
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NM_014244.5(ADAMTS2):c.3261G>A (p.Lys1087=)
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rs1762622649
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NM_014244.5(ADAMTS2):c.3291C>T (p.Asn1097=)
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rs1581132604
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NM_014244.5(ADAMTS2):c.32del (p.Leu11fs)
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rs1581302068
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NM_014244.5(ADAMTS2):c.3300C>T (p.Thr1100=)
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rs1284339752
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NM_014244.5(ADAMTS2):c.3304G>A (p.Val1102Met)
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NM_014244.5(ADAMTS2):c.3305T>G (p.Val1102Gly)
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NM_014244.5(ADAMTS2):c.330C>T (p.Phe110=)
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rs2127463393
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NM_014244.5(ADAMTS2):c.3312C>A (p.Gly1104=)
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NM_014244.5(ADAMTS2):c.3319G>C (p.Glu1107Gln)
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rs775059458
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NM_014244.5(ADAMTS2):c.3323C>T (p.Pro1108Leu)
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NM_014244.5(ADAMTS2):c.3330T>C (p.Pro1110=)
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NM_014244.5(ADAMTS2):c.333C>T (p.Tyr111=)
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NM_014244.5(ADAMTS2):c.3343G>C (p.Asp1115His)
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NM_014244.5(ADAMTS2):c.3352G>C (p.Val1118Leu)
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NM_014244.5(ADAMTS2):c.3358A>G (p.Met1120Val)
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rs2113161569
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NM_014244.5(ADAMTS2):c.335A>G (p.Asn112Ser)
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NM_014244.5(ADAMTS2):c.3363T>C (p.Pro1121=)
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NM_014244.5(ADAMTS2):c.3366C>T (p.Thr1122=)
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rs752223388
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NM_014244.5(ADAMTS2):c.3369C>A (p.Leu1123=)
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NM_014244.5(ADAMTS2):c.336T>C (p.Asn112=)
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rs1757858928
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NM_014244.5(ADAMTS2):c.3372A>G (p.Pro1124=)
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NM_014244.5(ADAMTS2):c.3375G>A (p.Val1125=)
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NM_014244.5(ADAMTS2):c.3378C>G (p.Pro1126=)
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NM_014244.5(ADAMTS2):c.3378C>T (p.Pro1126=)
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rs1412956412
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NM_014244.5(ADAMTS2):c.337G>A (p.Val113Ile)
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rs1757858860
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NM_014244.5(ADAMTS2):c.3380C>T (p.Thr1127Ile)
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rs368462217
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NM_014244.5(ADAMTS2):c.3384A>G (p.Val1128=)
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rs2113161464
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NM_014244.5(ADAMTS2):c.3391G>A (p.Glu1131Lys)
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rs2113161430
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NM_014244.5(ADAMTS2):c.3396G>A (p.Val1132=)
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rs1762619793
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NM_014244.5(ADAMTS2):c.339C>G (p.Val113=)
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rs143877087
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NM_014244.5(ADAMTS2):c.33G>C (p.Leu11=)
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NM_014244.5(ADAMTS2):c.3401C>T (p.Pro1134Leu)
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NM_014244.5(ADAMTS2):c.3408A>G (p.Pro1136=)
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NM_014244.5(ADAMTS2):c.3414C>T (p.Thr1138=)
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NM_014244.5(ADAMTS2):c.3417C>G (p.Pro1139=)
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NM_014244.5(ADAMTS2):c.3419del (p.Leu1140fs)
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rs2113161364
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NM_014244.5(ADAMTS2):c.3420G>C (p.Leu1140=)
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rs571329157
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NM_014244.5(ADAMTS2):c.3427C>A (p.Pro1143Thr)
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rs2113161332
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NM_014244.5(ADAMTS2):c.3438C>T (p.Ala1146=)
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NM_014244.5(ADAMTS2):c.3447C>G (p.Thr1149=)
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NM_014244.5(ADAMTS2):c.3455C>T (p.Thr1152Ile)
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NM_014244.5(ADAMTS2):c.3459G>A (p.Glu1153=)
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rs2113161261
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NM_014244.5(ADAMTS2):c.345C>T (p.Val115=)
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rs2127463388
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NM_014244.5(ADAMTS2):c.3465C>T (p.His1155=)
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rs2113161239
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NM_014244.5(ADAMTS2):c.346T>G (p.Phe116Val)
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rs1232899709
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NM_014244.5(ADAMTS2):c.3477T>C (p.Asn1159=)
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rs200636359
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NM_014244.5(ADAMTS2):c.3480C>G (p.Ala1160=)
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rs34437036
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NM_014244.5(ADAMTS2):c.3480C>T (p.Ala1160=)
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rs34437036
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NM_014244.5(ADAMTS2):c.3481G>A (p.Val1161Ile)
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NM_014244.5(ADAMTS2):c.3489A>G (p.Glu1163=)
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rs764091863
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NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser)
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rs776115866
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NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro)
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rs141541318
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NM_014244.5(ADAMTS2):c.3508C>T (p.Leu1170=)
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rs769503304
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NM_014244.5(ADAMTS2):c.3510G>A (p.Leu1170=)
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rs2113161090
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NM_014244.5(ADAMTS2):c.3513A>G (p.Glu1171=)
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NM_014244.5(ADAMTS2):c.351C>T (p.Gly117=)
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NM_014244.5(ADAMTS2):c.3522C>A (p.Val1174=)
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rs1273934347
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NM_014244.5(ADAMTS2):c.3529_3530delinsTT (p.Pro1177Phe)
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rs2113161027
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NM_014244.5(ADAMTS2):c.3530C>T (p.Pro1177Leu)
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NM_014244.5(ADAMTS2):c.3537A>G (p.Leu1179=)
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NM_014244.5(ADAMTS2):c.3543T>C (p.Pro1181=)
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NM_014244.5(ADAMTS2):c.3548G>A (p.Arg1183Gln)
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NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu)
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rs150989902
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NM_014244.5(ADAMTS2):c.3561T>C (p.Tyr1187=)
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rs752679558
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NM_014244.5(ADAMTS2):c.3567G>A (p.Lys1189=)
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NM_014244.5(ADAMTS2):c.3575A>G (p.Asn1192Ser)
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rs2113160848
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NM_014244.5(ADAMTS2):c.3576C>T (p.Asn1192=)
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NM_014244.5(ADAMTS2):c.3590A>G (p.Glu1197Gly)
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rs1561761828
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NM_014244.5(ADAMTS2):c.3591G>A (p.Glu1197=)
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NM_014244.5(ADAMTS2):c.3592C>T (p.Leu1198Phe)
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NM_014244.5(ADAMTS2):c.3594C>T (p.Leu1198=)
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NM_014244.5(ADAMTS2):c.3597T>C (p.Ile1199=)
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rs1245816073
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NM_014244.5(ADAMTS2):c.3603G>T (p.Glu1201Asp)
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rs1762614743
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NM_014244.5(ADAMTS2):c.360G>T (p.Leu120=)
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NM_014244.5(ADAMTS2):c.3615A>G (p.Lys1205=)
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NM_014244.5(ADAMTS2):c.3627A>G (p.Gly1209=)
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rs1290092850
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NM_014244.5(ADAMTS2):c.365T>G (p.Leu122Arg)
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rs1757857775
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NM_014244.5(ADAMTS2):c.368G>A (p.Arg123Gln)
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NM_014244.5(ADAMTS2):c.369G>T (p.Arg123=)
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NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp)
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rs535594659
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NM_014244.5(ADAMTS2):c.377C>A (p.Pro126His)
|
rs1247479642
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NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=)
|
rs1235773868
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NM_014244.5(ADAMTS2):c.386_387insATCGT (p.Leu130fs)
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NM_014244.5(ADAMTS2):c.396G>T (p.Ala132=)
|
rs770621969
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NM_014244.5(ADAMTS2):c.39C>T (p.Cys13=)
|
rs2127463927
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NM_014244.5(ADAMTS2):c.408T>C (p.Thr136=)
|
rs2127463354
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NM_014244.5(ADAMTS2):c.417G>A (p.Trp139Ter)
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NM_014244.5(ADAMTS2):c.41C>G (p.Pro14Arg)
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rs2127463924
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NM_014244.5(ADAMTS2):c.41C>T (p.Pro14Leu)
|
rs2127463924
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NM_014244.5(ADAMTS2):c.422dup (p.Glu142fs)
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NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=)
|
rs1581302053
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NM_014244.5(ADAMTS2):c.431del (p.Gly144fs)
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|
|
NM_014244.5(ADAMTS2):c.435C>T (p.Thr145=)
|
rs2127463343
|
|
|
NM_014244.5(ADAMTS2):c.439C>G (p.Arg147Gly)
|
rs1757854963
|
|
|
NM_014244.5(ADAMTS2):c.440G>T (p.Arg147Leu)
|
rs1003741366
|
|
|
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=)
|
rs886060496
|
|
|
NM_014244.5(ADAMTS2):c.449C>G (p.Pro150Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.450C>A (p.Pro150=)
|
|
|
|
NM_014244.5(ADAMTS2):c.458G>A (p.Gly153Glu)
|
rs2127463330
|
|
|
NM_014244.5(ADAMTS2):c.459G>A (p.Gly153=)
|
|
|
|
NM_014244.5(ADAMTS2):c.45G>C (p.Ala15=)
|
|
|
|
NM_014244.5(ADAMTS2):c.460_461insAAACTGCAGTGGCCTCT (p.Ser154fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.461G>A (p.Ser154Asn)
|
|
|
|
NM_014244.5(ADAMTS2):c.46del (p.Leu16fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.470_480del (p.Tyr157fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.471C>G (p.Tyr157Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.474C>T (p.Val158=)
|
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[11] (p.Leu21_Leu23dup)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[12] (p.Leu20_Leu23dup)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[13] (p.Leu23_Pro24insLeuLeuLeuLeuLeu)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[6] (p.Leu22_Leu23del)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.486C>G (p.Ala162=)
|
|
|
|
NM_014244.5(ADAMTS2):c.486C>T (p.Ala162=)
|
rs774428426
|
|
|
NM_014244.5(ADAMTS2):c.487G>C (p.Gly163Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.48G>A (p.Leu16=)
|
rs1342781405
|
|
|
NM_014244.5(ADAMTS2):c.492A>G (p.Leu164=)
|
rs1581299393
|
|
|
NM_014244.5(ADAMTS2):c.495C>G (p.Ala165=)
|
rs1757852530
|
|
|
NM_014244.5(ADAMTS2):c.510G>C (p.Val170=)
|
rs2127463299
|
|
|
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup)
|
rs1365580904
|
|
|
NM_014244.5(ADAMTS2):c.51del (p.Leu18fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.526G>A (p.Asp176Asn)
|
rs1207222735
|
|
|
NM_014244.5(ADAMTS2):c.527A>G (p.Asp176Gly)
|
|
|
|
NM_014244.5(ADAMTS2):c.531G>C (p.Gly177=)
|
rs2127463290
|
|
|
NM_014244.5(ADAMTS2):c.534+13T>G
|
|
|
|
NM_014244.5(ADAMTS2):c.534+14T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.534+15C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.534+17C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.534+17C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.534+19A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.534+20del
|
|
|
|
NM_014244.5(ADAMTS2):c.534+8C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.534+8C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.534+8C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.534+9G>A
|
rs2271213
|
|
|
NM_014244.5(ADAMTS2):c.534+9G>T
|
rs2271213
|
|
|
NM_014244.5(ADAMTS2):c.535-13C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.535-17T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.535-21_535-11del
|
|
|
|
NM_014244.5(ADAMTS2):c.535-6C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.535-7C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.535-7C>T
|
rs372454455
|
|
|
NM_014244.5(ADAMTS2):c.535-8T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.543G>C (p.Leu181=)
|
rs1349808338
|
|
|
NM_014244.5(ADAMTS2):c.548G>A (p.Arg183Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.555G>A (p.Glu185=)
|
rs1355953711
|
|
|
NM_014244.5(ADAMTS2):c.55_56insACTCAGCAGCACGA (p.Leu19fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.55del (p.Leu19fs)
|
rs1757915135
|
|
|
NM_014244.5(ADAMTS2):c.570C>T (p.Phe190=)
|
|
|
|
NM_014244.5(ADAMTS2):c.573C>T (p.Ile191=)
|
rs774498509
|
|
|
NM_014244.5(ADAMTS2):c.579C>G (p.Pro193=)
|
rs1766588917
|
|
|
NM_014244.5(ADAMTS2):c.580T>C (p.Leu194=)
|
rs1554094148
|
|
|
NM_014244.5(ADAMTS2):c.581T>C (p.Leu194Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.591dup (p.Leu198fs)
|
rs2113513390
|
|
|
NM_014244.5(ADAMTS2):c.592C>T (p.Leu198=)
|
|
|
|
NM_014244.5(ADAMTS2):c.594G>A (p.Leu198=)
|
rs1766588483
|
|
|
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu)
|
rs76704342
|
|
|
NM_014244.5(ADAMTS2):c.59_63delinsAGCAGCA (p.Leu20fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.600G>C (p.Ala200=)
|
rs761444202
|
|
|
NM_014244.5(ADAMTS2):c.600G>T (p.Ala200=)
|
rs761444202
|
|
|
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr)
|
rs543859669
|
|
|
NM_014244.5(ADAMTS2):c.612G>A (p.Glu204=)
|
|
|
|
NM_014244.5(ADAMTS2):c.618C>A (p.Gly206=)
|
rs1253142639
|
|
|
NM_014244.5(ADAMTS2):c.621T>C (p.Arg207=)
|
rs763850575
|
|
|
NM_014244.5(ADAMTS2):c.624G>A (p.Val208=)
|
|
|
|
NM_014244.5(ADAMTS2):c.633G>A (p.Val211=)
|
|
|
|
NM_014244.5(ADAMTS2):c.637C>G (p.Arg213Gly)
|
|
|
|
NM_014244.5(ADAMTS2):c.63G>C (p.Leu21=)
|
rs2127463907
|
|
|
NM_014244.5(ADAMTS2):c.642G>A (p.Arg214=)
|
|
|
|
NM_014244.5(ADAMTS2):c.648C>A (p.Pro216=)
|
rs2113513153
|
|
|
NM_014244.5(ADAMTS2):c.64C>T (p.Leu22=)
|
rs2127463905
|
|
|
NM_014244.5(ADAMTS2):c.64_65insCGC (p.Leu21_Leu22insPro)
|
|
|
|
NM_014244.5(ADAMTS2):c.650C>A (p.Thr217Lys)
|
|
|
|
NM_014244.5(ADAMTS2):c.650C>T (p.Thr217Met)
|
|
|
|
NM_014244.5(ADAMTS2):c.654C>A (p.Ser218=)
|
rs1581236091
|
|
|
NM_014244.5(ADAMTS2):c.654C>G (p.Ser218=)
|
rs1581236091
|
|
|
NM_014244.5(ADAMTS2):c.654C>T (p.Ser218=)
|
|
|
|
NM_014244.5(ADAMTS2):c.656C>G (p.Pro219Arg)
|
rs1766583475
|
|
|
NM_014244.5(ADAMTS2):c.65_66insTCT (p.Leu23_Pro24insLeu)
|
|
|
|
NM_014244.5(ADAMTS2):c.65_76dup (p.Pro25_Pro26insLeuLeuProPro)
|
rs2127463883
|
|
|
NM_014244.5(ADAMTS2):c.661C>T (p.Leu221Phe)
|
|
|
|
NM_014244.5(ADAMTS2):c.664G>A (p.Gly222Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.666G>A (p.Gly222=)
|
|
|
|
NM_014244.5(ADAMTS2):c.669G>A (p.Gly223=)
|
rs886060495
|
|
|
NM_014244.5(ADAMTS2):c.66G>C (p.Leu22=)
|
rs1757914356
|
|
|
NM_014244.5(ADAMTS2):c.670C>T (p.Pro224Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=)
|
rs1386741882
|
|
|
NM_014244.5(ADAMTS2):c.678C>T (p.Ala226=)
|
rs766547415
|
|
|
NM_014244.5(ADAMTS2):c.679C>T (p.Leu227=)
|
|
|
|
NM_014244.5(ADAMTS2):c.681G>A (p.Leu227=)
|
rs1394677898
|
|
|
NM_014244.5(ADAMTS2):c.685A>G (p.Thr229Ala)
|
|
|
|
NM_014244.5(ADAMTS2):c.688+12G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.688+9A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.689-10C>T
|
rs761165003
|
|
|
NM_014244.5(ADAMTS2):c.689-11T>C
|
rs1269138698
|
|
|
NM_014244.5(ADAMTS2):c.689-12C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.689-12C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.689-5T>G
|
|
|
|
NM_014244.5(ADAMTS2):c.689-6T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.689-7C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.689-8C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.689-9T>C
|
rs2113374801
|
|
|
NM_014244.5(ADAMTS2):c.689-9_695del
|
rs2113374735
|
|
|
NM_014244.5(ADAMTS2):c.690G>C (p.Gly230=)
|
rs138176208
|
|
|
NM_014244.5(ADAMTS2):c.693del (p.Ser232fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.699G>A (p.Leu233=)
|
|
|
|
NM_014244.5(ADAMTS2):c.699GGACAGCCT[1] (p.234DSL[1])
|
rs778523767
|
|
|
NM_014244.5(ADAMTS2):c.699GGACAGCCT[3] (p.234DSL[3])
|
rs778523767
|
|
|
NM_014244.5(ADAMTS2):c.69G>A (p.Leu23=)
|
|
|
|
NM_014244.5(ADAMTS2):c.700G>A (p.Asp234Asn)
|
|
|
|
NM_014244.5(ADAMTS2):c.702C>T (p.Asp234=)
|
|
|
|
NM_014244.5(ADAMTS2):c.706C>T (p.Leu236=)
|
rs2113374688
|
|
|
NM_014244.5(ADAMTS2):c.70_71insTGCCGCTGCTGC (p.Leu23_Pro24insLeuProLeuLeu)
|
rs2127463894
|
|
|
NM_014244.5(ADAMTS2):c.711C>T (p.Asp237=)
|
|
|
|
NM_014244.5(ADAMTS2):c.712A>C (p.Ser238Arg)
|
|
|
|
NM_014244.5(ADAMTS2):c.714C>T (p.Ser238=)
|
rs2113374639
|
|
|
NM_014244.5(ADAMTS2):c.71CGC[2] (p.Pro26del)
|
rs763392299
|
|
|
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)
|
rs763392299
|
|
|
NM_014244.5(ADAMTS2):c.71CGC[5] (p.Pro25_Pro26dup)
|
rs763392299
|
|
|
NM_014244.5(ADAMTS2):c.71_82del (p.Pro24_Leu27del)
|
|
|
|
NM_014244.5(ADAMTS2):c.720C>T (p.Ser240=)
|
|
|
|
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His)
|
rs11750821
|
|
|
NM_014244.5(ADAMTS2):c.722G>T (p.Arg241Leu)
|
rs11750821
|
|
|
NM_014244.5(ADAMTS2):c.722_723delinsAT (p.Arg241His)
|
rs2113374579
|
|
|
NM_014244.5(ADAMTS2):c.723C>A (p.Arg241=)
|
|
|
|
NM_014244.5(ADAMTS2):c.725C>G (p.Ala242Gly)
|
|
|
|
NM_014244.5(ADAMTS2):c.726C>G (p.Ala242=)
|
|
|
|
NM_014244.5(ADAMTS2):c.726C>T (p.Ala242=)
|
rs767903981
|
|
|
NM_014244.5(ADAMTS2):c.732_733delinsTA (p.Val245Ile)
|
|
|
|
NM_014244.5(ADAMTS2):c.738A>G (p.Leu246=)
|
rs2113374482
|
|
|
NM_014244.5(ADAMTS2):c.74C>A (p.Pro25Gln)
|
rs1362955704
|
|
|
NM_014244.5(ADAMTS2):c.750C>T (p.Ala250=)
|
rs2113374415
|
|
|
NM_014244.5(ADAMTS2):c.753C>T (p.Asn251=)
|
|
|
|
NM_014244.5(ADAMTS2):c.758C>T (p.Ser253Leu)
|
rs750197805
|
|
|
NM_014244.5(ADAMTS2):c.759G>C (p.Ser253=)
|
|
|
|
NM_014244.5(ADAMTS2):c.75G>A (p.Pro25=)
|
|
|
|
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=)
|
rs965841596
|
|
|
NM_014244.5(ADAMTS2):c.763C>A (p.Arg255=)
|
rs767850400
|
|
|
NM_014244.5(ADAMTS2):c.767G>A (p.Arg256Lys)
|
rs1764733855
|
|
|
NM_014244.5(ADAMTS2):c.768G>A (p.Arg256=)
|
rs2113374347
|
|
|
NM_014244.5(ADAMTS2):c.76_77insTCCTGC (p.Pro25_Pro26insLeuLeu)
|
|
|
|
NM_014244.5(ADAMTS2):c.770C>T (p.Ala257Val)
|
rs370679548
|
|
|
NM_014244.5(ADAMTS2):c.783T>C (p.Ala261=)
|
rs2113374285
|
|
|
NM_014244.5(ADAMTS2):c.789C>G (p.Asp263Glu)
|
rs144235544
|
|
|
NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup)
|
rs1757908540
|
|
|
NM_014244.5(ADAMTS2):c.795C>T (p.Asp265=)
|
|
|
|
NM_014244.5(ADAMTS2):c.79_80insCAC (p.Pro26dup)
|
rs1561778823
|
|
|
NM_014244.5(ADAMTS2):c.79_80insCGCTCCTGCCGC (p.Pro26_Leu27insProLeuLeuPro)
|
rs1554100051
|
|
|
NM_014244.5(ADAMTS2):c.79_80insGCC (p.Pro26_Leu27insArg)
|
rs1561778823
|
|
|
NM_014244.5(ADAMTS2):c.80TCCTGCCGCCGCCGCCGCCGC[3] (p.Pro33_Pro34insLeuLeuProProProProProLeuLeuProProProProPro)
|
|
|
|
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)
|
rs1064794627
|
|
|
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup)
|
rs775509290
|
|
|
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1])
|
rs1041304220
|
|
|
NM_014244.5(ADAMTS2):c.816G>A (p.Leu272=)
|
rs2113374177
|
|
|
NM_014244.5(ADAMTS2):c.81C>T (p.Leu27=)
|
rs1288102968
|
|
|
NM_014244.5(ADAMTS2):c.821T>C (p.Val274Ala)
|
rs1373325794
|
|
|
NM_014244.5(ADAMTS2):c.825T>C (p.Asp275=)
|
rs1398080224
|
|
|
NM_014244.5(ADAMTS2):c.82_102dup (p.Pro34_Ala35insLeuProProProProProPro)
|
|
|
|
NM_014244.5(ADAMTS2):c.832G>A (p.Val278Met)
|
rs1764731152
|
|
|
NM_014244.5(ADAMTS2):c.834G>A (p.Val278=)
|
|
|
|
NM_014244.5(ADAMTS2):c.836T>C (p.Val279Ala)
|
|
|
|
NM_014244.5(ADAMTS2):c.840G>A (p.Gln280=)
|
|
|
|
NM_014244.5(ADAMTS2):c.842dup (p.His282fs)
|
rs1764730959
|
|
|
NM_014244.5(ADAMTS2):c.84G>T (p.Leu28=)
|
|
|
|
NM_014244.5(ADAMTS2):c.84GCC[5] (p.Pro34del)
|
rs770212030
|
|
|
NM_014244.5(ADAMTS2):c.84GCC[7] (p.Pro34dup)
|
rs770212030
|
|
|
NM_014244.5(ADAMTS2):c.84GCC[8] (p.Pro33_Pro34dup)
|
rs770212030
|
|
|
NM_014244.5(ADAMTS2):c.855G>A (p.Glu285=)
|
rs2113374083
|
|
|
NM_014244.5(ADAMTS2):c.858_859delinsTA (p.Val287Ile)
|
|
|
|
NM_014244.5(ADAMTS2):c.863A>C (p.Gln288Pro)
|
rs368893222
|
|
|
NM_014244.5(ADAMTS2):c.867G>A (p.Lys289=)
|
rs1191391499
|
|
|
NM_014244.5(ADAMTS2):c.874C>T (p.Leu292=)
|
|
|
|
NM_014244.5(ADAMTS2):c.876G>A (p.Leu292=)
|
rs2113374018
|
|
|
NM_014244.5(ADAMTS2):c.891+10del
|
rs2113373949
|
|
|
NM_014244.5(ADAMTS2):c.891+13G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.891+14C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.891+14C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.891+15T>G
|
|
|
|
NM_014244.5(ADAMTS2):c.891+17A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.891+19G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.891+1G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.891+2T>C
|
|
|
|
NM_014244.5(ADAMTS2):c.891+7G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.891+7G>T
|
rs770674772
|
|
|
NM_014244.5(ADAMTS2):c.891+8G>A
|
|
|
|
NM_014244.5(ADAMTS2):c.892-11G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.892-7C>G
|
|
|
|
NM_014244.5(ADAMTS2):c.896A>C (p.Asn299Thr)
|
|
|
|
NM_014244.5(ADAMTS2):c.896A>G (p.Asn299Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.89C>A (p.Pro30Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.918C>G (p.Ser306=)
|
rs761998633
|
|
|
NM_014244.5(ADAMTS2):c.918C>T (p.Ser306=)
|
rs761998633
|
|
|
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=)
|
rs1764038673
|
|
|
NM_014244.5(ADAMTS2):c.927C>T (p.Ala309=)
|
rs143588140
|
|
|
NM_014244.5(ADAMTS2):c.928del (p.His310fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.930C>T (p.His310=)
|
rs2113312045
|
|
|
NM_014244.5(ADAMTS2):c.945G>A (p.Leu315=)
|
|
|
|
NM_014244.5(ADAMTS2):c.950G>A (p.Arg317Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu)
|
rs886060498
|
|
|
NM_014244.5(ADAMTS2):c.961C>T (p.Leu321=)
|
|
|
|
NM_014244.5(ADAMTS2):c.963G>C (p.Leu321=)
|
|
|
|
NM_014244.5(ADAMTS2):c.966C>T (p.Ser322=)
|
rs2113311944
|
|
|
NM_014244.5(ADAMTS2):c.96G>A (p.Pro32=)
|
|
|
|
NM_014244.5(ADAMTS2):c.975+18A>G
|
|
|
|
NM_014244.5(ADAMTS2):c.975+19G>C
|
|
|
|
NM_014244.5(ADAMTS2):c.976-13C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.976-14C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.976-14C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.976-16C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.976-18C>A
|
|
|
|
NM_014244.5(ADAMTS2):c.976-20T>A
|
|
|
|
NM_014244.5(ADAMTS2):c.976-6C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.976-7C>T
|
|
|
|
NM_014244.5(ADAMTS2):c.97_130dup (p.Asp44fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.985_986insA (p.Leu329fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.98C>A (p.Pro33Gln)
|
|
|
|
NM_014244.5(ADAMTS2):c.999G>A (p.Gly333=)
|
rs2113265276
|
|
|
NM_014244.5(ADAMTS2):c.999G>C (p.Gly333=)
|
|
|
|
NM_014244.5(ADAMTS2):c.99G>A (p.Pro33=)
|
rs1010032577
|
|
|
NM_014244.5(ADAMTS2):c.99G>C (p.Pro33=)
|
|
|
|
NM_014244.5(ADAMTS2):c.99G>T (p.Pro33=)
|
|
|
|
NM_014244.5(ADAMTS2):c.9G>A (p.Pro3=)
|
rs1757918952
|
|
|
NM_017946.4(FKBP14):c.105A>G (p.Pro35=)
|
rs1790174432
|
|
|
NM_017946.4(FKBP14):c.114C>T (p.Cys38=)
|
|
|
|
NM_017946.4(FKBP14):c.116A>G (p.His39Arg)
|
rs778007431
|
|
|
NM_017946.4(FKBP14):c.119G>A (p.Arg40His)
|
rs1554371032
|
|
|
NM_017946.4(FKBP14):c.137A>G (p.Asp46Gly)
|
rs1159422560
|
|
|
NM_017946.4(FKBP14):c.139T>C (p.Leu47=)
|
rs1562840763
|
|
|
NM_017946.4(FKBP14):c.143T>A (p.Met48Lys)
|
rs1583738267
|
|
|
NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter)
|
rs1562840744
|
|
|
NM_017946.4(FKBP14):c.164A>G (p.Tyr55Cys)
|
rs1156382110
|
|
|
NM_017946.4(FKBP14):c.182C>T (p.Ser61Phe)
|
rs1583738133
|
|
|
NM_017946.4(FKBP14):c.186A>G (p.Leu62=)
|
|
|
|
NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe)
|
|
|
|
NM_017946.4(FKBP14):c.197+1G>A
|
rs758622304
|
|
|
NM_017946.4(FKBP14):c.197+5_197+8del
|
rs747353360
|
|
|
NM_017946.4(FKBP14):c.197+6dup
|
|
|
|
NM_017946.4(FKBP14):c.198-19T>G
|
rs1562839339
|
|
|
NM_017946.4(FKBP14):c.198-4A>G
|
rs2127949590
|
|
|
NM_017946.4(FKBP14):c.198-8T>C
|
|
|
|
NM_017946.4(FKBP14):c.203A>G (p.Lys68Arg)
|
|
|
|
NM_017946.4(FKBP14):c.204A>G (p.Lys68=)
|
|
|
|
NM_017946.4(FKBP14):c.206A>G (p.His69Arg)
|
rs564539430
|
|
|
NM_017946.4(FKBP14):c.206dup (p.His69fs)
|
rs2127949580
|
|
|
NM_017946.4(FKBP14):c.207_208del (p.His69fs)
|
rs1583734485
|
|
|
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)
|
|
|
|
NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys)
|
|
|
|
NM_017946.4(FKBP14):c.222C>T (p.Pro74=)
|
rs2127949564
|
|
|
NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys)
|
rs1264425307
|
|
|
NM_017946.4(FKBP14):c.24G>T (p.Ala8=)
|
|
|
|
NM_017946.4(FKBP14):c.250G>A (p.Ala84Thr)
|
rs935783818
|
|
|
NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg)
|
rs543492611
|
|
|
NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter)
|
|
|
|
NM_017946.4(FKBP14):c.295G>C (p.Glu99Gln)
|
|
|
|
NM_017946.4(FKBP14):c.305A>G (p.Lys102Arg)
|
rs1376933291
|
|
|
NM_017946.4(FKBP14):c.306G>A (p.Lys102=)
|
|
|
|
NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe)
|
|
|
|
NM_017946.4(FKBP14):c.325C>T (p.Leu109=)
|
rs2127949515
|
|
|
NM_017946.4(FKBP14):c.32C>T (p.Thr11Ile)
|
rs1235130674
|
|
|
NM_017946.4(FKBP14):c.349+10T>G
|
rs369590377
|
|
|
NM_017946.4(FKBP14):c.349+18T>C
|
|
|
|
NM_017946.4(FKBP14):c.349+6A>C
|
rs1790066082
|
|
|
NM_017946.4(FKBP14):c.349G>A (p.Gly117Ser)
|
rs752455232
|
|
|
NM_017946.4(FKBP14):c.34_35del (p.Leu12fs)
|
rs1583738732
|
|
|
NM_017946.4(FKBP14):c.350-13T>C
|
|
|
|
NM_017946.4(FKBP14):c.350-17T>C
|
|
|
|
NM_017946.4(FKBP14):c.350-18C>T
|
|
|
|
NM_017946.4(FKBP14):c.350-7A>G
|
|
|
|
NM_017946.4(FKBP14):c.350-8C>G
|
rs368867118
|
|
|
NM_017946.4(FKBP14):c.351T>C (p.Gly117=)
|
|
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
|
NM_017946.4(FKBP14):c.36G>C (p.Leu12=)
|
|
|
|
NM_017946.4(FKBP14):c.385A>G (p.Ile129Val)
|
rs771396716
|
|
|
NM_017946.4(FKBP14):c.393C>A (p.Leu131=)
|
|
|
|
NM_017946.4(FKBP14):c.40G>C (p.Val14Leu)
|
|
|
|
NM_017946.4(FKBP14):c.426A>G (p.Glu142=)
|
|
|
|
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)
|
|
|
|
NM_017946.4(FKBP14):c.429A>G (p.Ser143=)
|
|
|
|
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer)
|
rs770271683
|
|
|
NM_017946.4(FKBP14):c.432C>T (p.Phe144=)
|
|
|
|
NM_017946.4(FKBP14):c.445C>G (p.Leu149Val)
|
rs2127948264
|
|
|
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer)
|
rs753775062
|
|
|
NM_017946.4(FKBP14):c.467_469del (p.Ser156_Lys157delinsTer)
|
rs2127948247
|
|
|
NM_017946.4(FKBP14):c.471A>C (p.Lys157Asn)
|
rs1789962057
|
|
|
NM_017946.4(FKBP14):c.477+15_477+17del
|
rs766444580
|
|
|
NM_017946.4(FKBP14):c.477+20A>C
|
|
|
|
NM_017946.4(FKBP14):c.477+20A>T
|
|
|
|
NM_017946.4(FKBP14):c.477+7T>A
|
rs2127948243
|
|
|
NM_017946.4(FKBP14):c.478-14C>G
|
rs1218557130
|
|
|
NM_017946.4(FKBP14):c.478-18G>T
|
|
|
|
NM_017946.4(FKBP14):c.478-19G>A
|
rs1278077747
|
|
|
NM_017946.4(FKBP14):c.478-1G>A
|
rs2127946672
|
|
|
NM_017946.4(FKBP14):c.478-20T>C
|
|
|
|
NM_017946.4(FKBP14):c.486A>C (p.Ala162=)
|
rs370487182
|
|
|
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)
|
rs542254849
|
|
|
NM_017946.4(FKBP14):c.50T>C (p.Leu17Ser)
|
rs1554371125
|
|
|
NM_017946.4(FKBP14):c.511C>T (p.His171Tyr)
|
rs1583725676
|
|
|
NM_017946.4(FKBP14):c.519G>A (p.Ala173=)
|
|
|
|
NM_017946.4(FKBP14):c.527A>G (p.Asn176Ser)
|
rs2127946652
|
|
|
NM_017946.4(FKBP14):c.52A>G (p.Ile18Val)
|
|
|
|
NM_017946.4(FKBP14):c.52_55del (p.Ile18fs)
|
|
|
|
NM_017946.4(FKBP14):c.535CAT[1] (p.His180del)
|
|
|
|
NM_017946.4(FKBP14):c.537T>A (p.His179Gln)
|
|
|
|
NM_017946.4(FKBP14):c.53T>C (p.Ile18Thr)
|
|
|
|
NM_017946.4(FKBP14):c.54T>C (p.Ile18=)
|
|
|
|
NM_017946.4(FKBP14):c.555G>A (p.Glu185=)
|
|
|
|
NM_017946.4(FKBP14):c.556G>T (p.Asp186Tyr)
|
rs766873942
|
|
|
NM_017946.4(FKBP14):c.558T>C (p.Asp186=)
|
rs1789837091
|
|
|
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser)
|
rs773564727
|
|
|
NM_017946.4(FKBP14):c.561T>A (p.Ile187=)
|
rs2127946638
|
|
|
NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln)
|
rs141843195
|
|
|
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del)
|
rs1430849353
|
|
|
NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp)
|
rs1283044971
|
|
|
NM_017946.4(FKBP14):c.576T>C (p.Asp192=)
|
|
|
|
NM_017946.4(FKBP14):c.57G>A (p.Gly19=)
|
rs2127950905
|
|
|
NM_017946.4(FKBP14):c.580G>A (p.Asp194Asn)
|
rs1439447377
|
|
|
NM_017946.4(FKBP14):c.582C>G (p.Asp194Glu)
|
rs1347395907
|
|
|
NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg)
|
|
|
|
NM_017946.4(FKBP14):c.591G>T (p.Gly197=)
|
|
|
|
NM_017946.4(FKBP14):c.615A>G (p.Thr205=)
|
|
|
|
NM_017946.4(FKBP14):c.624C>T (p.His208=)
|
rs757161961
|
|
|
NM_017946.4(FKBP14):c.632T>C (p.Leu211Ser)
|
|
|
|
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr)
|
rs1583725395
|
|
|
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser)
|
rs2127950957
|
|
|
NM_017946.4(FKBP14):c.75A>G (p.Pro25=)
|
|
|
|
NM_017946.4(FKBP14):c.87T>G (p.Ile29Met)
|
|
|
|
NM_017946.4(FKBP14):c.93T>G (p.Val31=)
|
|
|
|
NM_017946.4(FKBP14):c.95_96del (p.Leu32fs)
|
rs2127950876
|
|
|
NM_017946.4(FKBP14):c.99G>A (p.Gln33=)
|
|
|
|
NM_017946.4(FKBP14):c.99G>T (p.Gln33His)
|
|
|
|
NM_018699.3(PRDM5):c.-207G>A
|
rs879793284
|
|
|
NM_018699.3(PRDM5):c.-245C>G
|
rs886059047
|
|
|
NM_018699.3(PRDM5):c.946_1623del
|
|
|
|
NM_018699.4(PRDM5):c.*141T>C
|
rs886059040
|
|
|
NM_018699.4(PRDM5):c.1031-6dup
|
rs35363618
|
|
|
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
|
|
|
|
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg)
|
rs769647986
|
|
|
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr)
|
rs563401372
|
|
|
NM_018699.4(PRDM5):c.1305T>G (p.His435Gln)
|
rs1177252653
|
|
|
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)
|
rs759022476
|
|
|
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr)
|
rs886059041
|
|
|
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
|
|
|
|
NM_018699.4(PRDM5):c.1538-5T>G
|
rs1744464153
|
|
|
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)
|
rs755802156
|
|
|
NM_018699.4(PRDM5):c.1698G>A (p.Thr566=)
|
rs764095834
|
|
|
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs)
|
rs1734381962
|
|
|
NM_018699.4(PRDM5):c.1795C>T (p.Arg599Cys)
|
rs1451159185
|
|
|
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly)
|
rs1725107158
|
|
|
NM_018699.4(PRDM5):c.1851C>T (p.Leu617=)
|
rs767571327
|
|
|
NM_018699.4(PRDM5):c.1858del (p.His620fs)
|
rs1734373037
|
|
|
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=)
|
rs376740879
|
|
|
NM_018699.4(PRDM5):c.237C>T (p.Ser79=)
|
rs374500219
|
|
|
NM_018699.4(PRDM5):c.36G>T (p.Leu12=)
|
rs755929725
|
|
|
NM_018699.4(PRDM5):c.374A>G (p.Asp125Gly)
|
rs750374228
|
|
|
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala)
|
rs886059044
|
|
|
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
|
|
|
|
NM_018699.4(PRDM5):c.475+2T>C
|
|
|
|
NM_018699.4(PRDM5):c.475+9T>A
|
rs1561379470
|
|
|
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln)
|
rs886059043
|
|
|
NM_018699.4(PRDM5):c.650+7A>T
|
rs751182540
|
|
|
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
|
|
|
|
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
|
|
|
|
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
|
|
|
|
NM_018699.4(PRDM5):c.93+1G>A
|
rs1267369024
|
|
|
NM_018699.4(PRDM5):c.93+2T>C
|
rs1579259095
|
|
|
NM_018699.4(PRDM5):c.94-10T>G
|
rs886059045
|
|
|
NM_018699.4(PRDM5):c.946-9C>T
|
rs886059042
|
|
|
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)
|
rs1555887820
|
|
|
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)
|
|
|
|
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=)
|
rs1416591096
|
|
|
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)
|
rs867336520
|
|
|
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg)
|
rs867336520
|
|
|
NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)
|
|
|
|
NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)
|
|
|
|
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)
|
|
|
|
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)
|
|
|
|
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=)
|
rs868472493
|
|
|
NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp)
|
rs1638529780
|
|
|
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)
|
|
|
|
NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)
|
|
|
|
NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)
|
|
|
|
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)
|
rs1249919137
|
|
|
NM_080605.4(B3GALT6):c.149C>G (p.Pro50Arg)
|
rs1156566104
|
|
|
NM_080605.4(B3GALT6):c.150dup (p.Ala51fs)
|
rs1638536337
|
|
|
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)
|
|
|
|
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly)
|
rs1035452129
|
|
|
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro)
|
rs950488335
|
|
|
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp)
|
rs397514722
|
|
|
NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val)
|
rs963500907
|
|
|
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr)
|
rs1638538307
|
|
|
NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)
|
|
|
|
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr)
|
rs2100993440
|
|
|
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)
|
|
|
|
NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)
|
|
|
|
NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)
|
|
|
|
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup)
|
rs1553151150
|
|
|
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)
|
rs397514720
|
|
|
NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs)
|
rs2100993446
|
|
|
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=)
|
rs1179179554
|
|
|
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)
|
|
|
|
NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup)
|
rs1638539426
|
|
|
NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser)
|
rs1436567011
|
|
|
NM_080605.4(B3GALT6):c.227del (p.Ile76fs)
|
rs1638539773
|
|
|
NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met)
|
rs1174370874
|
|
|
NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3])
|
rs1553151151
|
|
|
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup)
|
rs1553151151
|
|
|
NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)
|
|
|
|
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)
|
|
|
|
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg)
|
rs1409554936
|
|
|
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)
|
|
|
|
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=)
|
rs1372150716
|
|
|
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)
|
|
|
|
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)
|
|
|
|
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)
|
|
|
|
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs)
|
rs2100993592
|
|
|
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)
|
|
|
|
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=)
|
rs1557526065
|
|
|
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)
|
|
|
|
NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys)
|
rs969701761
|
|
|
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)
|
rs969701761
|
|
|
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)
|
|
|
|
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs)
|
rs2100993072
|
|
|
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)
|
|
|
|
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)
|
|
|
|
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)
|
|
|
|
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)
|
|
|
|
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs)
|
rs1468255826
|
|
|
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)
|
|
|
|
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)
|
rs558454078
|
|
|
NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly)
|
rs558454078
|
|
|
NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)
|
|
|
|
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=)
|
rs1224612114
|
|
|
NM_080605.4(B3GALT6):c.347A>G (p.His116Arg)
|
rs1638548585
|
|
|
NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu)
|
rs767598361
|
|
|
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)
|
rs755700896
|
|
|
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)
|
|
|
|
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)
|
|
|
|
NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)
|
|
|
|
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=)
|
rs1570498417
|
|
|
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly)
|
rs1478246707
|
|
|
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)
|
|
|
|
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=)
|
rs1255662040
|
|
|
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)
|
|
|
|
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)
|
|
|
|
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val)
|
rs2100993852
|
|
|
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del)
|
rs786200942
|
|
|
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)
|
|
|
|
NM_080605.4(B3GALT6):c.421del (p.Ala141fs)
|
|
|
|
NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)
|
|
|
|
NM_080605.4(B3GALT6):c.446del (p.Phe149fs)
|
rs1553151257
|
|
|
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)
|
rs1638552845
|
|
|
NM_080605.4(B3GALT6):c.448G>C (p.Glu150Gln)
|
rs1557526286
|
|
|
NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)
|
|
|
|
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)
|
|
|
|
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)
|
|
|
|
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro)
|
rs1638553187
|
|
|
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)
|
|
|
|
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=)
|
rs753855818
|
|
|
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)
|
|
|
|
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu)
|
rs2100993929
|
|
|
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)
|
|
|
|
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
|
|
|
|
NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp)
|
rs1638554377
|
|
|
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=)
|
rs1305970798
|
|
|
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=)
|
rs1570497749
|
|
|
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs)
|
rs2100993997
|
|
|
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)
|
|
|
|
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)
|
|
|
|
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)
|
|
|
|
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)
|
|
|
|
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)
|
rs778123798
|
|
|
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)
|
|
|
|
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly)
|
rs2100994072
|
|
|
NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)
|
|
|
|
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup)
|
rs1057034356
|
|
|
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)
|
|
|
|
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)
|
|
|
|
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)
|
|
|
|
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)
|
|
|
|
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)
|
|
|
|
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)
|
|
|
|
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)
|
|
|
|
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)
|
rs1553151294
|
|
|
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)
|
|
|
|
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)
|
|
|
|
NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp)
|
rs1004549168
|
|
|
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)
|
|
|
|
NM_080605.4(B3GALT6):c.576C>G (p.Val192=)
|
rs762952410
|
|
|
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg)
|
rs2100994186
|
|
|
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=)
|
rs532162467
|
|
|
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg)
|
rs551984021
|
|
|
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg)
|
rs551984021
|
|
|
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=)
|
rs562616873
|
|
|
NM_080605.4(B3GALT6):c.588del (p.Arg197fs)
|
rs533071750
|
|
|
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)
|
rs533071750
|
|
|
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)
|
|
|
|
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)
|
|
|
|
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly)
|
rs1405919033
|
|
|
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys)
|
rs1170976606
|
|
|
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)
|
|
|
|
NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser)
|
rs1638560291
|
|
|
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser)
|
rs866914942
|
|
|
NM_080605.4(B3GALT6):c.651del (p.Tyr218fs)
|
rs2100994328
|
|
|
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)
|
|
|
|
NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)
|
|
|
|
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)
|
|
|
|
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)
|
|
|
|
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)
|
|
|
|
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)
|
|
|
|
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)
|
|
|
|
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)
|
|
|
|
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)
|
|
|
|
NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)
|
|
|
|
NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)
|
|
|
|
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly)
|
rs2100994545
|
|
|
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)
|
rs2100994545
|
|
|
NM_080605.4(B3GALT6):c.762C>A (p.Val254=)
|
rs2100994568
|
|
|
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)
|
|
|
|
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)
|
rs1638566519
|
|
|
NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)
|
|
|
|
NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro)
|
rs1553151166
|
|
|
NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)
|
|
|
|
NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)
|
|
|
|
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn)
|
rs2100994661
|
|
|
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)
|
|
|
|
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=)
|
rs1334196295
|
|
|
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=)
|
rs1471341896
|
|
|
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)
|
|
|
|
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)
|
|
|
|
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val)
|
rs2100994726
|
|
|
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)
|
|
|
|
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)
|
|
|
|
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)
|
rs1329926209
|
|
|
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)
|
|
|
|
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=)
|
rs1638533336
|
|
|
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)
|
|
|
|
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)
|
|
|
|
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr)
|
rs397514721
|
|
|
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu)
|
rs988906237
|
|
|
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)
|
|
|
|
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs)
|
rs1339079870
|
|
|
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)
|
|
|
|
NM_130468.3(CHST14):c.[403C>G;410T>A]
|
|
|
|
NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)
|
|
|
|
NM_130468.4(CHST14):c.1016A>G (p.His339Arg)
|
|
|
|
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp)
|
rs372422727
|
|
|
NM_130468.4(CHST14):c.1033del (p.Arg345fs)
|
|
|
|
NM_130468.4(CHST14):c.1033dup (p.Arg345fs)
|
|
|
|
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
|
|
|
|
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
|
|
|
|
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
|
|
|
|
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val)
|
rs1566969372
|
|
|
NM_130468.4(CHST14):c.1086T>C (p.Phe362=)
|
rs2141571343
|
|
|
NM_130468.4(CHST14):c.1101T>C (p.Pro367=)
|
rs1189242847
|
|
|
NM_130468.4(CHST14):c.1104T>C (p.Asn368=)
|
rs1351942431
|
|
|
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser)
|
rs748434505
|
|
|
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
|
|
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NM_130468.4(CHST14):c.114C>G (p.Pro38=)
|
rs2141570382
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NM_130468.4(CHST14):c.117G>A (p.Leu39=)
|
rs2141570389
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NM_130468.4(CHST14):c.130A>G (p.Met44Val)
|
rs1043447552
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NM_130468.4(CHST14):c.135G>C (p.Leu45=)
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NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)
|
rs397518432
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NM_130468.4(CHST14):c.148A>T (p.Ile50Phe)
|
rs1046833753
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NM_130468.4(CHST14):c.151G>A (p.Val51Met)
|
rs199749498
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NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
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NM_130468.4(CHST14):c.156_166del (p.Ser53fs)
|
rs1293915082
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NM_130468.4(CHST14):c.160dup (p.Ser54fs)
|
rs1566969054
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NM_130468.4(CHST14):c.18G>T (p.Leu6=)
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NM_130468.4(CHST14):c.202A>G (p.Met68Val)
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NM_130468.4(CHST14):c.205A>T (p.Lys69Ter)
|
rs267606730
|
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NM_130468.4(CHST14):c.216C>T (p.Pro72=)
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NM_130468.4(CHST14):c.228C>A (p.Pro76=)
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NM_130468.4(CHST14):c.234C>G (p.Arg78=)
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NM_130468.4(CHST14):c.245C>G (p.Ala82Gly)
|
rs1475453618
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NM_130468.4(CHST14):c.255G>A (p.Gly85=)
|
rs2141570543
|
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NM_130468.4(CHST14):c.264del (p.Lys89fs)
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NM_130468.4(CHST14):c.275G>T (p.Gly92Val)
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rs754720949
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NM_130468.4(CHST14):c.295G>A (p.Asp99Asn)
|
rs1354036515
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NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
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NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
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NM_130468.4(CHST14):c.303C>T (p.Asp101=)
|
rs2141570597
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NM_130468.4(CHST14):c.312G>T (p.Val104=)
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NM_130468.4(CHST14):c.315G>T (p.Arg105=)
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NM_130468.4(CHST14):c.315del (p.Gln106fs)
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NM_130468.4(CHST14):c.336C>G (p.Thr112=)
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NM_130468.4(CHST14):c.382G>C (p.Asp128His)
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NM_130468.4(CHST14):c.409C>T (p.Leu137=)
|
rs2141570724
|
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NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
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NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
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NM_130468.4(CHST14):c.43G>C (p.Ala15Pro)
|
rs1235160320
|
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NM_130468.4(CHST14):c.448C>G (p.Leu150Val)
|
rs2141570771
|
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NM_130468.4(CHST14):c.453dup (p.Cys152fs)
|
rs1555410747
|
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NM_130468.4(CHST14):c.458A>G (p.Tyr153Cys)
|
rs1894349669
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NM_130468.4(CHST14):c.462C>T (p.Val154=)
|
rs1478974228
|
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NM_130468.4(CHST14):c.468G>C (p.Lys156Asn)
|
rs1555410748
|
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NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
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NM_130468.4(CHST14):c.48G>A (p.Glu16=)
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NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)
|
rs1894350607
|
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NM_130468.4(CHST14):c.513C>T (p.Gly171=)
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NM_130468.4(CHST14):c.516C>T (p.Val172=)
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NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs)
|
rs1595869467
|
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NM_130468.4(CHST14):c.536G>A (p.Arg179His)
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NM_130468.4(CHST14):c.536G>C (p.Arg179Pro)
|
rs756707600
|
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NM_130468.4(CHST14):c.609G>T (p.Leu203=)
|
rs2141570922
|
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NM_130468.4(CHST14):c.612G>T (p.Gln204His)
|
rs1894353008
|
|
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NM_130468.4(CHST14):c.61G>A (p.Ala21Thr)
|
rs1894339727
|
|
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NM_130468.4(CHST14):c.628C>G (p.Leu210Val)
|
rs1894353259
|
|
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NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
|
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NM_130468.4(CHST14):c.637C>T (p.Arg213Trp)
|
rs1894353511
|
|
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NM_130468.4(CHST14):c.642G>C (p.Glu214Asp)
|
rs146662235
|
|
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NM_130468.4(CHST14):c.651A>G (p.Glu217=)
|
|
|
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NM_130468.4(CHST14):c.654_655delinsTT (p.Leu219Phe)
|
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NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
|
|
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NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe)
|
rs1894354295
|
|
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NM_130468.4(CHST14):c.670C>T (p.Arg224Cys)
|
rs1894354337
|
|
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NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
|
|
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NM_130468.4(CHST14):c.681T>C (p.Phe227=)
|
|
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NM_130468.4(CHST14):c.686A>G (p.Glu229Gly)
|
rs1043019552
|
|
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NM_130468.4(CHST14):c.692G>A (p.Arg231Gln)
|
rs751335857
|
|
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NM_130468.4(CHST14):c.693A>T (p.Arg231=)
|
|
|
|
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg)
|
rs532315121
|
|
|
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter)
|
|
|
|
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
|
|
|
|
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser)
|
rs1894355892
|
|
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NM_130468.4(CHST14):c.747G>T (p.Ala249=)
|
|
|
|
NM_130468.4(CHST14):c.750G>T (p.Gly250=)
|
rs1402353708
|
|
|
NM_130468.4(CHST14):c.755_851del (p.Ser252fs)
|
rs1555410768
|
|
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NM_130468.4(CHST14):c.763G>C (p.Gly255Arg)
|
rs2141571079
|
|
|
NM_130468.4(CHST14):c.783del (p.Glu262fs)
|
|
|
|
NM_130468.4(CHST14):c.797dup (p.Tyr266Ter)
|
rs1595869602
|
|
|
NM_130468.4(CHST14):c.821G>C (p.Arg274Pro)
|
rs397514706
|
|
|
NM_130468.4(CHST14):c.834T>C (p.His278=)
|
|
|
|
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu)
|
rs267606729
|
|
|
NM_130468.4(CHST14):c.846G>A (p.Val282=)
|
|
|
|
NM_130468.4(CHST14):c.846G>C (p.Val282=)
|
rs139191820
|
|
|
NM_130468.4(CHST14):c.849C>T (p.Tyr283=)
|
rs1438289059
|
|
|
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
|
|
|
|
NM_130468.4(CHST14):c.866G>C (p.Cys289Ser)
|
rs267606731
|
|
|
NM_130468.4(CHST14):c.90C>A (p.Ala30=)
|
|
|
|
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter)
|
|
|
|
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
|
|
|
|
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
|
|
|
|
NM_130468.4(CHST14):c.977C>T (p.Ala326Val)
|
rs1234827728
|
|
|
NM_130468.4(CHST14):c.981_1000dup (p.Glu334fs)
|
rs1555410785
|
|
|
NM_130468.4(CHST14):c.984C>T (p.Tyr328=)
|
rs747403269
|
|
|
NM_130468.4(CHST14):c.999C>T (p.Pro333=)
|
|
|
|
Single allele
|
|
|
|
TNXB, 30-KB DEL
|
|
|