NM_000393.5(COL5A2):c.315C>A (p.Thr105=)
|
rs4128539
|
0.93266
|
NM_000393.5(COL5A2):c.322+157C>T
|
rs4128538
|
0.86911
|
NM_000093.5(COL5A1):c.1332+92C>G
|
rs3124310
|
0.64521
|
NM_000093.5(COL5A1):c.4230+103T>C
|
rs11792894
|
0.61932
|
NM_000093.5(COL5A1):c.1332+46T>C
|
rs3109675
|
0.41683
|
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)
|
rs1130529
|
0.32745
|
NM_000093.5(COL5A1):c.4230+118C>T
|
rs7847840
|
0.32683
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_000302.4(PLOD1):c.294C>T (p.Phe98=)
|
rs7529452
|
0.24445
|
NM_000093.5(COL5A1):c.1570-59T>C
|
rs12686426
|
0.22376
|
NM_000093.5(COL5A1):c.4177-107T>C
|
rs7854010
|
0.19207
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
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_000302.4(PLOD1):c.1632A>C (p.Ala544=)
|
rs2230898
|
0.05658
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_000302.4(PLOD1):c.644-17T>G
|
rs41307745
|
0.04239
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
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_000302.4(PLOD1):c.1329-20G>A
|
rs78527487
|
0.02519
|
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_000302.4(PLOD1):c.77-3407C>T
|
rs75220940
|
0.01953
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000093.5(COL5A1):c.925-44C>T
|
rs41302966
|
0.01210
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
NM_000393.5(COL5A2):c.2661+20G>A
|
rs79623676
|
0.00876
|
NM_000302.4(PLOD1):c.77-3370G>A
|
rs112799470
|
0.00836
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_000393.5(COL5A2):c.370-16C>T
|
rs148220961
|
0.00748
|
NM_000393.5(COL5A2):c.2554-14A>G
|
rs142429770
|
0.00703
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_000302.4(PLOD1):c.975+13C>T
|
rs79345327
|
0.00627
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000302.4(PLOD1):c.76+17C>T
|
rs113691754
|
0.00498
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_000393.5(COL5A2):c.33C>T (p.Leu11=)
|
rs140108893
|
0.00130
|
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)
|
rs148786600
|
0.00118
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_000302.4(PLOD1):c.976-16C>T
|
rs142329815
|
0.00073
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
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_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)
|
rs147008954
|
0.00054
|
NM_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
NM_000393.5(COL5A2):c.322+18C>G
|
rs201708256
|
0.00045
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_000393.5(COL5A2):c.2230-16T>A
|
rs375334470
|
0.00031
|
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
|
rs150092345
|
0.00031
|
NM_000302.4(PLOD1):c.1471-9C>G
|
rs376476977
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000302.4(PLOD1):c.1471-8C>T
|
rs201661871
|
0.00023
|
NM_000093.5(COL5A1):c.2799+11G>A
|
rs377322092
|
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_000302.4(PLOD1):c.644-11C>T
|
rs375303994
|
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_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
0.00004
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
NM_000302.4(PLOD1):c.243G>A (p.Leu81=)
|
rs371574381
|
0.00004
|
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)
|
rs145447578
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_000093.5(COL5A1):c.735C>T (p.Asp245=)
|
rs746769184
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)
|
rs546865410
|
0.00002
|
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)
|
rs773756799
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)
|
rs772211736
|
0.00001
|
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp)
|
rs771186398
|
0.00001
|
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala)
|
rs376643174
|
0.00001
|
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
|
rs1443765130
|
0.00001
|
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)
|
rs760408439
|
0.00001
|
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)
|
rs746454126
|
0.00001
|
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)
|
rs773515722
|
0.00001
|
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)
|
rs761988412
|
0.00001
|
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
|
rs1056466895
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_000393.5(COL5A2):c.691-15T>G
|
rs756189756
|
0.00001
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
NM_000093.5(COL5A1):c.1882-5del
|
rs1554793544
|
|
NM_000093.5(COL5A1):c.1936-21G>A
|
rs77716946
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)
|
rs148669237
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln)
|
rs886045208
|
|
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)
|
rs549517196
|
|
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)
|
rs1402614845
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
|
|
|
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_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
|
|
|
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=)
|
rs1686161677
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.4114-18_4114-17del
|
rs1440458273
|
|
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=)
|
rs979486002
|
|
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly)
|
rs1685415940
|
|
NM_000393.5(COL5A2):c.744+19T>C
|
|
|
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)
|
rs556805686
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn)
|
rs1354036515
|
|