NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr)
|
rs376054177
|
0.00353
|
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn)
|
rs758419331
|
0.00169
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr)
|
rs146632722
|
0.00062
|
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr)
|
rs138998777
|
0.00061
|
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile)
|
rs147940796
|
0.00058
|
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)
|
rs146222244
|
0.00054
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg)
|
rs149649831
|
0.00052
|
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)
|
rs1131691530
|
0.00041
|
NM_000302.4(PLOD1):c.608G>A (p.Arg203His)
|
rs145482271
|
0.00034
|
NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn)
|
rs138399615
|
0.00033
|
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)
|
rs373165011
|
0.00032
|
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
|
rs150092345
|
0.00031
|
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp)
|
rs41284943
|
0.00031
|
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His)
|
rs201998372
|
0.00029
|
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe)
|
rs61995938
|
0.00028
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
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_013352.4(DSE):c.35T>A (p.Phe12Tyr)
|
rs142885560
|
0.00024
|
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met)
|
rs367796431
|
0.00024
|
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr)
|
rs145336133
|
0.00022
|
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser)
|
rs141692280
|
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.3154T>G (p.Ser1052Ala)
|
rs201390756
|
0.00021
|
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn)
|
rs200022037
|
0.00021
|
NM_007255.3(B4GALT7):c.700C>T (p.Arg234Cys)
|
rs139730903
|
0.00020
|
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met)
|
rs748526375
|
0.00019
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met)
|
rs148717330
|
0.00019
|
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)
|
rs766643057
|
0.00019
|
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)
|
rs374717566
|
0.00018
|
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
|
rs41317144
|
0.00017
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)
|
rs144702307
|
0.00017
|
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_014244.5(ADAMTS2):c.1629+6G>A
|
rs377268307
|
0.00016
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
NM_000090.4(COL3A1):c.2229+6G>A
|
rs10186160
|
0.00015
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)
|
rs147924545
|
0.00015
|
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)
|
rs192345009
|
0.00015
|
NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser)
|
rs368690576
|
0.00015
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)
|
rs148802548
|
0.00013
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)
|
rs199669594
|
0.00013
|
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln)
|
rs200490683
|
0.00013
|
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln)
|
rs375644526
|
0.00013
|
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser)
|
rs149708395
|
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_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)
|
rs143604754
|
0.00012
|
NM_001128225.3(SLC39A13):c.302-3T>C
|
rs371414744
|
0.00012
|
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)
|
rs373059256
|
0.00012
|
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr)
|
rs376820857
|
0.00012
|
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.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)
|
rs142042452
|
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_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.562G>C (p.Glu188Gln)
|
rs146064587
|
0.00011
|
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala)
|
rs202197821
|
0.00011
|
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile)
|
rs141850025
|
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_000089.4(COL1A2):c.2717G>A (p.Arg906His)
|
rs147063981
|
0.00010
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
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.403-3T>C
|
rs369733690
|
0.00010
|
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)
|
rs370767331
|
0.00010
|
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser)
|
rs528367185
|
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_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.395G>A (p.Arg132His)
|
rs372678526
|
0.00009
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
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_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_004370.6(COL12A1):c.1906A>G (p.Lys636Glu)
|
rs754916465
|
0.00009
|
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys)
|
rs199684959
|
0.00009
|
NM_013352.4(DSE):c.2005A>G (p.Ile669Val)
|
rs145999978
|
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_017946.4(FKBP14):c.179G>A (p.Gly60Asp)
|
rs781073404
|
0.00009
|
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met)
|
rs202182643
|
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_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_000090.4(COL3A1):c.2242G>A (p.Gly748Ser)
|
rs771585795
|
0.00008
|
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=)
|
rs146757272
|
0.00008
|
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)
|
rs372109796
|
0.00008
|
NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr)
|
rs768334305
|
0.00008
|
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly)
|
rs900539403
|
0.00008
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)
|
rs149858889
|
0.00007
|
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
|
rs377497101
|
0.00007
|
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val)
|
rs149161535
|
0.00007
|
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met)
|
rs374544349
|
0.00007
|
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg)
|
rs540867293
|
0.00007
|
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr)
|
rs150311697
|
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_000089.4(COL1A2):c.1876G>A (p.Val626Met)
|
rs374878685
|
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.2843G>A (p.Arg948His)
|
rs201168934
|
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.949G>A (p.Val317Ile)
|
rs142803502
|
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.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)
|
rs374537884
|
0.00006
|
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=)
|
rs372844807
|
0.00006
|
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val)
|
rs142916043
|
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.874G>A (p.Val292Met)
|
rs143114026
|
0.00006
|
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp)
|
rs11553674
|
0.00006
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
NM_001128225.3(SLC39A13):c.1043G>A (p.Arg348His)
|
rs770908923
|
0.00006
|
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro)
|
rs373259425
|
0.00006
|
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=)
|
rs552834799
|
0.00006
|
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)
|
rs757348453
|
0.00006
|
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)
|
rs368397177
|
0.00006
|
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe)
|
rs763858637
|
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.553G>A (p.Val185Met)
|
rs137913131
|
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.208C>T (p.Arg70Cys)
|
rs375337613
|
0.00006
|
NM_013352.4(DSE):c.2752A>G (p.Met918Val)
|
rs780791978
|
0.00006
|
NM_014244.5(ADAMTS2):c.1511C>T (p.Thr504Met)
|
rs765595538
|
0.00006
|
NM_014244.5(ADAMTS2):c.2036G>A (p.Arg679His)
|
rs144554943
|
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.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_000089.4(COL1A2):c.1268G>A (p.Arg423His)
|
rs764780528
|
0.00005
|
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala)
|
rs760732696
|
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.3938T>C (p.Leu1313Pro)
|
rs780400987
|
0.00005
|
NM_000089.4(COL1A2):c.701G>A (p.Arg234His)
|
rs376341785
|
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_000093.5(COL5A1):c.2034C>T (p.Pro678=)
|
rs373100663
|
0.00005
|
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln)
|
rs370305686
|
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.773C>T (p.Pro258Leu)
|
rs766692124
|
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.3038C>T (p.Ala1013Val)
|
rs372220538
|
0.00005
|
NM_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr)
|
rs374739509
|
0.00005
|
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe)
|
rs199992321
|
0.00005
|
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val)
|
rs199757996
|
0.00005
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)
|
rs370090007
|
0.00005
|
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln)
|
rs367959320
|
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.3038A>C (p.Gln1013Pro)
|
rs371013989
|
0.00005
|
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe)
|
rs201343773
|
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_080605.4(B3GALT6):c.409C>G (p.Leu137Val)
|
rs142133113
|
0.00005
|
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr)
|
rs558669120
|
0.00005
|
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.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.3473A>C (p.Asn1158Thr)
|
rs1034555044
|
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.644C>T (p.Ala215Val)
|
rs753438416
|
0.00004
|
NM_000089.4(COL1A2):c.727G>A (p.Val243Met)
|
rs764373659
|
0.00004
|
NM_000089.4(COL1A2):c.980G>A (p.Arg327His)
|
rs764174111
|
0.00004
|
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr)
|
rs372329498
|
0.00004
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
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.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
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.928C>T (p.Arg310Trp)
|
rs757062073
|
0.00004
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
0.00004
|
NM_000093.5(COL5A1):c.1569C>T (p.Pro523=)
|
rs138803413
|
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.4375G>A (p.Gly1459Ser)
|
rs183114696
|
0.00004
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
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.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.475G>A (p.Gly159Ser)
|
rs772861343
|
0.00004
|
NM_000302.4(PLOD1):c.614G>A (p.Arg205His)
|
rs536503346
|
0.00004
|
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)
|
rs145447578
|
0.00004
|
NM_000302.4(PLOD1):c.975C>T (p.His325=)
|
rs761576315
|
0.00004
|
NM_000393.5(COL5A2):c.3310-3T>A
|
rs752705717
|
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.23G>T (p.Gly8Val)
|
rs779570378
|
0.00004
|
NM_001128225.3(SLC39A13):c.314G>A (p.Arg105His)
|
rs762900525
|
0.00004
|
NM_001128225.3(SLC39A13):c.491C>T (p.Ala164Val)
|
rs914512778
|
0.00004
|
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val)
|
rs750123189
|
0.00004
|
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr)
|
rs370516835
|
0.00004
|
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val)
|
rs754558033
|
0.00004
|
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His)
|
rs755195861
|
0.00004
|
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser)
|
rs776633189
|
0.00004
|
NM_004370.6(COL12A1):c.2164+6A>T
|
rs746467248
|
0.00004
|
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val)
|
rs368773405
|
0.00004
|
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val)
|
rs944222774
|
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.5075T>C (p.Phe1692Ser)
|
rs759692428
|
0.00004
|
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His)
|
rs748487098
|
0.00004
|
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)
|
rs760315104
|
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.6608T>C (p.Leu2203Ser)
|
rs370244195
|
0.00004
|
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser)
|
rs747966606
|
0.00004
|
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met)
|
rs371124522
|
0.00004
|
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser)
|
rs772870762
|
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.8465G>A (p.Arg2822Gln)
|
rs756809634
|
0.00004
|
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu)
|
rs376161354
|
0.00004
|
NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser)
|
rs771088509
|
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.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.95T>C (p.Met32Thr)
|
rs140765634
|
0.00004
|
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His)
|
rs201162234
|
0.00004
|
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val)
|
rs1057524401
|
0.00004
|
NM_014244.5(ADAMTS2):c.1519C>T (p.Arg507Trp)
|
rs201393333
|
0.00004
|
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val)
|
rs768252348
|
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.3376C>A (p.Pro1126Thr)
|
rs557070498
|
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.997G>A (p.Gly333Arg)
|
rs483352736
|
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.11G>C (p.Arg4Pro)
|
rs1352733612
|
0.00004
|
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe)
|
rs755535418
|
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.933G>C (p.Glu311Asp)
|
rs927457735
|
0.00004
|
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)
|
rs770497661
|
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.2489G>A (p.Arg830Gln)
|
rs768513176
|
0.00003
|
NM_000089.4(COL1A2):c.2644C>T (p.Arg882Cys)
|
rs1204085246
|
0.00003
|
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser)
|
rs779303344
|
0.00003
|
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)
|
rs200357942
|
0.00003
|
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln)
|
rs751898427
|
0.00003
|
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)
|
rs761465504
|
0.00003
|
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)
|
rs1206388800
|
0.00003
|
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
|
rs755731385
|
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.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.3466C>T (p.His1156Tyr)
|
rs776814693
|
0.00003
|
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser)
|
rs759565407
|
0.00003
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val)
|
rs754503346
|
0.00003
|
NM_000093.5(COL5A1):c.2484+6C>T
|
rs576976549
|
0.00003
|
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg)
|
rs368448060
|
0.00003
|
NM_000302.4(PLOD1):c.1098-3C>T
|
rs541901674
|
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.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.184G>A (p.Glu62Lys)
|
rs146092290
|
0.00003
|
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser)
|
rs747393648
|
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.307G>A (p.Asp103Asn)
|
rs774590964
|
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.712G>T (p.Val238Phe)
|
rs777914756
|
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.1697C>T (p.Pro566Leu)
|
rs1051400743
|
0.00003
|
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser)
|
rs773726323
|
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.4037G>A (p.Arg1346His)
|
rs143163673
|
0.00003
|
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)
|
rs761481937
|
0.00003
|
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys)
|
rs766701277
|
0.00003
|
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly)
|
rs377518253
|
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_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.2165T>A (p.Val722Glu)
|
rs199503279
|
0.00003
|
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala)
|
rs370684538
|
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.3570G>A (p.Met1190Ile)
|
rs536615203
|
0.00003
|
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)
|
rs377553583
|
0.00003
|
NM_004370.6(COL12A1):c.4000+4C>G
|
rs375772555
|
0.00003
|
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp)
|
rs548889128
|
0.00003
|
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu)
|
rs755159927
|
0.00003
|
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=)
|
rs775579405
|
0.00003
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=)
|
rs900917198
|
0.00003
|
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)
|
rs138496419
|
0.00003
|
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys)
|
rs751283120
|
0.00003
|
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu)
|
rs1019548575
|
0.00003
|
NM_014244.5(ADAMTS2):c.1802C>T (p.Ser601Leu)
|
rs778186590
|
0.00003
|
NM_014244.5(ADAMTS2):c.2086-3C>T
|
rs756427989
|
0.00003
|
NM_014244.5(ADAMTS2):c.2530G>A (p.Asp844Asn)
|
rs764687535
|
0.00003
|
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val)
|
rs141654276
|
0.00003
|
NM_014244.5(ADAMTS2):c.2958+5G>A
|
rs370239549
|
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.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.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.8C>T (p.Pro3Leu)
|
rs1407363425
|
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_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_000089.4(COL1A2):c.1048C>T (p.Pro350Ser)
|
rs201463779
|
0.00002
|
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu)
|
rs772238510
|
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.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.3491G>A (p.Arg1164His)
|
rs764327381
|
0.00002
|
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn)
|
rs754149044
|
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.670C>A (p.Arg224Ser)
|
rs763047559
|
0.00002
|
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr)
|
rs141075408
|
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.1525C>T (p.Arg509Cys)
|
rs1485092842
|
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.2110G>A (p.Glu704Lys)
|
rs863223362
|
0.00002
|
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala)
|
rs777180110
|
0.00002
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
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.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.4011+3A>G
|
rs112254545
|
0.00002
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
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.599A>C (p.Gln200Pro)
|
rs780921226
|
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_000093.5(COL5A1):c.1388C>T (p.Pro463Leu)
|
rs201375465
|
0.00002
|
NM_000093.5(COL5A1):c.1495-3C>T
|
rs943808454
|
0.00002
|
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg)
|
rs1131691360
|
0.00002
|
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
NM_000093.5(COL5A1):c.3852+3G>A
|
rs1220391738
|
0.00002
|
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu)
|
rs1297565068
|
0.00002
|
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val)
|
rs528826181
|
0.00002
|
NM_000093.5(COL5A1):c.4819G>A (p.Gly1607Ser)
|
rs753525012
|
0.00002
|
NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys)
|
rs747427505
|
0.00002
|
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser)
|
rs1060502260
|
0.00002
|
NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser)
|
rs773709219
|
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.128G>A (p.Arg43His)
|
rs141704997
|
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.1960A>T (p.Met654Leu)
|
rs1085307517
|
0.00002
|
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln)
|
rs1282397747
|
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.410G>C (p.Arg137Thr)
|
rs1156606108
|
0.00002
|
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp)
|
rs746416126
|
0.00002
|
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln)
|
rs776949094
|
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.971A>G (p.Asn324Ser)
|
rs200524993
|
0.00002
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
NM_000393.5(COL5A2):c.1618-7G>A
|
rs77456219
|
0.00002
|
NM_000393.5(COL5A2):c.1717-3C>T
|
rs760304144
|
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.2552A>G (p.Gln851Arg)
|
rs1286805423
|
0.00002
|
NM_000393.5(COL5A2):c.3471+3A>G
|
rs929722223
|
0.00002
|
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
|
rs1243023432
|
0.00002
|
NM_000393.5(COL5A2):c.4163C>G (p.Thr1388Ser)
|
rs771415085
|
0.00002
|
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)
|
rs760569641
|
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.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_004370.6(COL12A1):c.1322T>C (p.Ile441Thr)
|
rs1223531902
|
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.2378T>A (p.Ile793Asn)
|
rs759182254
|
0.00002
|
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)
|
rs771124556
|
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.2984-2A>G
|
rs760316411
|
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.4231A>G (p.Ser1411Gly)
|
rs1385334403
|
0.00002
|
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn)
|
rs758640189
|
0.00002
|
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu)
|
rs373002461
|
0.00002
|
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr)
|
rs757943935
|
0.00002
|
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser)
|
rs750263276
|
0.00002
|
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr)
|
rs993593939
|
0.00002
|
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln)
|
rs1315131480
|
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.8501C>G (p.Pro2834Arg)
|
rs199693016
|
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_007255.3(B4GALT7):c.128T>G (p.Phe43Cys)
|
rs370483831
|
0.00002
|
NM_007255.3(B4GALT7):c.362G>C (p.Arg121Thr)
|
rs781467817
|
0.00002
|
NM_007255.3(B4GALT7):c.514G>A (p.Glu172Lys)
|
rs749164672
|
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_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.1684G>A (p.Gly562Ser)
|
rs757782312
|
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.2243C>T (p.Ala748Val)
|
rs780473688
|
0.00002
|
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His)
|
rs76488852
|
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.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.3232C>T (p.Arg1078Cys)
|
rs755578308
|
0.00002
|
NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr)
|
rs372096858
|
0.00002
|
NM_014244.5(ADAMTS2):c.731G>A (p.Gly244Asp)
|
rs769174562
|
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.404G>A (p.Arg135Gln)
|
rs747727076
|
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_080605.4(B3GALT6):c.145C>A (p.Pro49Thr)
|
rs1490617023
|
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_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.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.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
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.1076A>G (p.Asn359Ser)
|
rs755584404
|
0.00001
|
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)
|
rs748961276
|
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.1195A>G (p.Arg399Gly)
|
rs1213766484
|
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.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.133-15C>G
|
rs992330364
|
0.00001
|
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe)
|
rs780096548
|
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.1439T>C (p.Ile480Thr)
|
rs568201784
|
0.00001
|
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln)
|
rs1037367793
|
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.1654C>T (p.Pro552Ser)
|
rs763695362
|
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+5G>A
|
rs375027186
|
0.00001
|
NM_000089.4(COL1A2):c.1971+6T>C
|
rs1345215762
|
0.00001
|
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys)
|
rs778295967
|
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.2140C>T (p.Arg714Cys)
|
rs770271259
|
0.00001
|
NM_000089.4(COL1A2):c.2141G>A (p.Arg714His)
|
rs773392397
|
0.00001
|
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu)
|
rs774919512
|
0.00001
|
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly)
|
rs1205884799
|
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.2506G>A (p.Ala836Thr)
|
rs759738995
|
0.00001
|
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu)
|
rs777971816
|
0.00001
|
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly)
|
rs752453618
|
0.00001
|
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr)
|
rs1245765830
|
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.2797G>A (p.Asp933Asn)
|
rs779358259
|
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.287T>A (p.Met96Lys)
|
rs1026230498
|
0.00001
|
NM_000089.4(COL1A2):c.2887C>T (p.Pro963Ser)
|
rs760780128
|
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.2993C>T (p.Pro998Leu)
|
rs1204582322
|
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.329C>T (p.Pro110Leu)
|
rs770180852
|
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.3404T>C (p.Val1135Ala)
|
rs779411376
|
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.3773G>A (p.Arg1258His)
|
rs200663095
|
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.3941T>C (p.Val1314Ala)
|
rs1421507234
|
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.455G>A (p.Arg152Gln)
|
rs765116624
|
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.674T>C (p.Val225Ala)
|
rs1210318478
|
0.00001
|
NM_000089.4(COL1A2):c.69A>G (p.Gln23=)
|
rs770754442
|
0.00001
|
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg)
|
rs1313865970
|
0.00001
|
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr)
|
rs374616916
|
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_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.1075C>G (p.Pro359Ala)
|
rs574831241
|
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.1189G>A (p.Glu397Lys)
|
rs187907868
|
0.00001
|
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)
|
rs763720540
|
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.1307A>G (p.Lys436Arg)
|
rs751471411
|
0.00001
|
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)
|
rs1688260053
|
0.00001
|
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His)
|
rs888082655
|
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.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.1594G>A (p.Gly532Ser)
|
rs138166497
|
0.00001
|
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn)
|
rs1293397335
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
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.1819C>G (p.Pro607Ala)
|
rs376525602
|
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.1904C>T (p.Pro635Leu)
|
rs902780774
|
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.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
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.205G>A (p.Asp69Asn)
|
rs112714742
|
0.00001
|
NM_000090.4(COL3A1):c.2074C>A (p.Pro692Thr)
|
rs1160258883
|
0.00001
|
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=)
|
rs541557925
|
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.2317G>T (p.Ala773Ser)
|
rs1170068141
|
0.00001
|
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)
|
rs370292679
|
0.00001
|
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser)
|
rs755676319
|
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.2567C>T (p.Pro856Leu)
|
rs1688514900
|
0.00001
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
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.275C>T (p.Pro92Leu)
|
rs368889070
|
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.2962C>T (p.Leu988Phe)
|
rs978290107
|
0.00001
|
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
|
rs142457159
|
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.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.3208G>T (p.Ala1070Ser)
|
rs376738516
|
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.3417+6T>C
|
rs1201578152
|
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.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.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.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.3847C>G (p.Gln1283Glu)
|
rs587779467
|
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.3964G>A (p.Glu1322Lys)
|
rs149522780
|
0.00001
|
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)
|
rs751807135
|
0.00001
|
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)
|
rs752777683
|
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.4165G>T (p.Ala1389Ser)
|
rs202022204
|
0.00001
|
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)
|
rs747651283
|
0.00001
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
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.464A>G (p.Tyr155Cys)
|
rs1160176510
|
0.00001
|
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu)
|
rs1016172772
|
0.00001
|
NM_000090.4(COL3A1):c.50A>T (p.His17Leu)
|
rs1311785540
|
0.00001
|
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro)
|
rs751350498
|
0.00001
|
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser)
|
rs1325737333
|
0.00001
|
NM_000090.4(COL3A1):c.690+3A>G
|
rs1447080385
|
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.752A>G (p.Lys251Arg)
|
rs151148197
|
0.00001
|
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser)
|
rs1688161034
|
0.00001
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)
|
rs1016767830
|
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.996A>G (p.Pro332=)
|
rs1229792348
|
0.00001
|
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn)
|
rs1420950002
|
0.00001
|
NM_000093.5(COL5A1):c.1332+4dup
|
rs886063674
|
0.00001
|
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)
|
rs1057518771
|
0.00001
|
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val)
|
rs763650548
|
0.00001
|
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser)
|
rs1238395732
|
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.1717G>A (p.Val573Met)
|
rs1304946894
|
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.1900G>A (p.Gly634Ser)
|
rs183627101
|
0.00001
|
NM_000093.5(COL5A1):c.1989+4G>A
|
rs1307138217
|
0.00001
|
NM_000093.5(COL5A1):c.214G>A (p.Asp72Asn)
|
rs376115028
|
0.00001
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
NM_000093.5(COL5A1):c.2331+4G>A
|
rs1588532335
|
0.00001
|
NM_000093.5(COL5A1):c.2430+4A>C
|
rs772211603
|
0.00001
|
NM_000093.5(COL5A1):c.2464A>G (p.Met822Val)
|
rs1060502262
|
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.2543G>A (p.Arg848His)
|
rs767925708
|
0.00001
|
NM_000093.5(COL5A1):c.256C>T (p.Pro86Ser)
|
rs1277995091
|
0.00001
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val)
|
rs759338898
|
0.00001
|
NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met)
|
rs771090557
|
0.00001
|
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser)
|
rs1189111524
|
0.00001
|
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)
|
rs1205167823
|
0.00001
|
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser)
|
rs777368013
|
0.00001
|
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val)
|
rs761639579
|
0.00001
|
NM_000093.5(COL5A1):c.3082C>T (p.Leu1028Phe)
|
rs762810181
|
0.00001
|
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu)
|
rs766852875
|
0.00001
|
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys)
|
rs367905915
|
0.00001
|
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser)
|
rs1838252619
|
0.00001
|
NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala)
|
rs1315080321
|
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.3346G>T (p.Ala1116Ser)
|
rs1838294621
|
0.00001
|
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro)
|
rs863223449
|
0.00001
|
NM_000093.5(COL5A1):c.3528+12C>T
|
rs927953209
|
0.00001
|
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile)
|
rs1057524867
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys)
|
rs1588448757
|
0.00001
|
NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala)
|
rs1564475073
|
0.00001
|
NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser)
|
rs761962890
|
0.00001
|
NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys)
|
rs1370262542
|
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.4333C>T (p.Pro1445Ser)
|
rs757989702
|
0.00001
|
NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys)
|
rs1838876394
|
0.00001
|
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser)
|
rs750864661
|
0.00001
|
NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn)
|
rs1422012959
|
0.00001
|
NM_000093.5(COL5A1):c.4554+5G>A
|
rs375489070
|
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.4651A>C (p.Thr1551Pro)
|
rs376821494
|
0.00001
|
NM_000093.5(COL5A1):c.4762G>A (p.Asp1588Asn)
|
rs863223480
|
0.00001
|
NM_000093.5(COL5A1):c.4786G>A (p.Gly1596Arg)
|
rs918778766
|
0.00001
|
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp)
|
rs763091062
|
0.00001
|
NM_000093.5(COL5A1):c.492-3C>T
|
rs1027866868
|
0.00001
|
NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg)
|
rs1273195387
|
0.00001
|
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg)
|
rs1339470102
|
0.00001
|
NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp)
|
rs1243519195
|
0.00001
|
NM_000093.5(COL5A1):c.5234A>T (p.His1745Leu)
|
rs370607849
|
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.5372C>A (p.Thr1791Asn)
|
rs1258210858
|
0.00001
|
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)
|
rs1830127790
|
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.713A>G (p.Glu238Gly)
|
rs1433120962
|
0.00001
|
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys)
|
rs199857770
|
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.1096G>A (p.Ala366Thr)
|
rs367592901
|
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.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.1207G>A (p.Val403Ile)
|
rs773517731
|
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.1325G>A (p.Arg442His)
|
rs199567720
|
0.00001
|
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp)
|
rs1204551467
|
0.00001
|
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser)
|
rs758780380
|
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.1516C>T (p.Leu506Phe)
|
rs1374717198
|
0.00001
|
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His)
|
rs773170096
|
0.00001
|
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr)
|
rs746905101
|
0.00001
|
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val)
|
rs376017234
|
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.1937A>G (p.Lys646Arg)
|
rs1221992885
|
0.00001
|
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val)
|
rs1487304416
|
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.265G>T (p.Ala89Ser)
|
rs886039207
|
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.363G>C (p.Arg121Ser)
|
rs768422539
|
0.00001
|
NM_000302.4(PLOD1):c.466+3G>A
|
rs779840832
|
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.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.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.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.896C>T (p.Pro299Leu)
|
rs532145123
|
0.00001
|
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln)
|
rs960778465
|
0.00001
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
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.1246C>G (p.Pro416Ala)
|
rs1412825331
|
0.00001
|
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val)
|
rs1391129049
|
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.1391G>A (p.Arg464Gln)
|
rs1553515798
|
0.00001
|
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser)
|
rs780495441
|
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.1636G>A (p.Gly546Ser)
|
rs369506320
|
0.00001
|
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His)
|
rs1199481029
|
0.00001
|
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg)
|
rs863223503
|
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.1738G>A (p.Val580Ile)
|
rs771004951
|
0.00001
|
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu)
|
rs863223505
|
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.2101C>A (p.Pro701Thr)
|
rs765785677
|
0.00001
|
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)
|
rs772811492
|
0.00001
|
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=)
|
rs1451386429
|
0.00001
|
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr)
|
rs372812220
|
0.00001
|
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala)
|
rs753363765
|
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.239T>A (p.Leu80Gln)
|
rs1458760818
|
0.00001
|
NM_000393.5(COL5A2):c.2486C>T (p.Ser829Phe)
|
rs771633594
|
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.2756C>T (p.Pro919Leu)
|
rs1388047059
|
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.2839C>A (p.Pro947Thr)
|
rs1027615025
|
0.00001
|
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp)
|
rs759604513
|
0.00001
|
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)
|
rs1040238147
|
0.00001
|
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
|
rs768663426
|
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.3250G>A (p.Ala1084Thr)
|
rs1432653441
|
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.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser)
|
rs367939836
|
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.3716A>G (p.His1239Arg)
|
rs773321546
|
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.3856G>A (p.Asp1286Asn)
|
rs1194645204
|
0.00001
|
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn)
|
rs1553512886
|
0.00001
|
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg)
|
rs138900123
|
0.00001
|
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu)
|
rs745580343
|
0.00001
|
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala)
|
rs1169417653
|
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.4420A>G (p.Ile1474Val)
|
rs1163031439
|
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.64G>A (p.Val22Ile)
|
rs746289356
|
0.00001
|
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly)
|
rs773748617
|
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.911A>G (p.His304Arg)
|
rs1576513195
|
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.284C>T (p.Thr95Ile)
|
rs1317018795
|
0.00001
|
NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys)
|
rs369854018
|
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.355G>T (p.Gly119Cys)
|
rs892859231
|
0.00001
|
NM_001128225.3(SLC39A13):c.392C>T (p.Ala131Val)
|
rs370161381
|
0.00001
|
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter)
|
rs752159748
|
0.00001
|
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val)
|
rs2096004287
|
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.736A>G (p.Ile246Val)
|
rs767784704
|
0.00001
|
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro)
|
rs924156969
|
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.991A>G (p.Ile331Val)
|
rs1407619087
|
0.00001
|
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu)
|
rs747183950
|
0.00001
|
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile)
|
rs780955667
|
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.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.1148G>C (p.Gly383Ala)
|
rs1310849098
|
0.00001
|
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys)
|
rs970722197
|
0.00001
|
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn)
|
rs369309158
|
0.00001
|
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)
|
rs377285294
|
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.1375G>A (p.Val459Ile)
|
rs368199250
|
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.1456C>T (p.Arg486Trp)
|
rs371505180
|
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.1620T>A (p.Asn540Lys)
|
rs1440470491
|
0.00001
|
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val)
|
rs538463802
|
0.00001
|
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile)
|
rs758637945
|
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.1934C>T (p.Ser645Phe)
|
rs1031869609
|
0.00001
|
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met)
|
rs749609293
|
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.214C>A (p.Leu72Ile)
|
rs1318884120
|
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.2324G>A (p.Arg775Lys)
|
rs1341266694
|
0.00001
|
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp)
|
rs931765391
|
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.2513C>T (p.Pro838Leu)
|
rs368537733
|
0.00001
|
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu)
|
rs375671490
|
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.2638G>A (p.Ala880Thr)
|
rs568432319
|
0.00001
|
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly)
|
rs371518967
|
0.00001
|
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr)
|
rs1415214085
|
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.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.3044C>A (p.Thr1015Lys)
|
rs774087407
|
0.00001
|
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys)
|
rs760621245
|
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.32C>T (p.Ala11Val)
|
rs751589202
|
0.00001
|
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter)
|
rs1329022055
|
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.344G>A (p.Gly115Asp)
|
rs749832842
|
0.00001
|
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val)
|
rs770692332
|
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.3566G>A (p.Gly1189Glu)
|
rs990441297
|
0.00001
|
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr)
|
rs752018748
|
0.00001
|
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met)
|
rs1305647848
|
0.00001
|
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)
|
rs751811370
|
0.00001
|
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg)
|
rs1179021269
|
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.401C>T (p.Ser134Phe)
|
rs1346687171
|
0.00001
|
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe)
|
rs377551270
|
0.00001
|
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp)
|
rs1183950908
|
0.00001
|
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val)
|
rs1056626609
|
0.00001
|
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)
|
rs750010185
|
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.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.4627G>A (p.Val1543Ile)
|
rs771220392
|
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.4713T>A (p.Asp1571Glu)
|
rs1246397590
|
0.00001
|
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln)
|
rs775117257
|
0.00001
|
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val)
|
rs1172593477
|
0.00001
|
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu)
|
rs751657895
|
0.00001
|
NM_004370.6(COL12A1):c.511G>C (p.Asp171His)
|
rs748076280
|
0.00001
|
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile)
|
rs370108747
|
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.5251+4A>G
|
rs781348212
|
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.5432A>G (p.Gln1811Arg)
|
rs558214604
|
0.00001
|
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala)
|
rs1461567926
|
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.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.5816A>C (p.Asn1939Thr)
|
rs1162295476
|
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.589T>C (p.Tyr197His)
|
rs1769820873
|
0.00001
|
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met)
|
rs376487916
|
0.00001
|
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln)
|
rs748657616
|
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.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.6211A>G (p.Thr2071Ala)
|
rs1390899930
|
0.00001
|
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln)
|
rs1769819268
|
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.6473C>T (p.Pro2158Leu)
|
rs1467078008
|
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.6814G>A (p.Val2272Ile)
|
rs1158867383
|
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.6917C>T (p.Pro2306Leu)
|
rs1302398240
|
0.00001
|
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser)
|
rs1474542485
|
0.00001
|
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys)
|
rs1233096096
|
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.7211-3T>C
|
rs766034760
|
0.00001
|
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu)
|
rs755614789
|
0.00001
|
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)
|
rs781647177
|
0.00001
|
NM_004370.6(COL12A1):c.747G>A (p.Thr249=)
|
rs553802363
|
0.00001
|
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala)
|
rs770874037
|
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.7738A>G (p.Ile2580Val)
|
rs781269301
|
0.00001
|
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)
|
rs1263587165
|
0.00001
|
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr)
|
rs767580803
|
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.7950+9A>G
|
rs778327157
|
0.00001
|
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe)
|
rs1391973492
|
0.00001
|
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)
|
rs749287325
|
0.00001
|
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly)
|
rs1011310040
|
0.00001
|
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu)
|
rs755342579
|
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.8494C>T (p.Pro2832Ser)
|
rs376931672
|
0.00001
|
NM_004370.6(COL12A1):c.8524-3T>C
|
rs755782718
|
0.00001
|
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala)
|
rs758378155
|
0.00001
|
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr)
|
rs1427337137
|
0.00001
|
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val)
|
rs769818518
|
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.997+6T>C
|
rs377225744
|
0.00001
|
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile)
|
rs1426761655
|
0.00001
|
NM_007255.3(B4GALT7):c.20A>G (p.Lys7Arg)
|
rs1370799068
|
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.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.733C>T (p.Pro245Ser)
|
rs1429482924
|
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.829G>T (p.Glu277Ter)
|
rs1481659687
|
0.00001
|
NM_007255.3(B4GALT7):c.875A>G (p.Tyr292Cys)
|
rs780922438
|
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.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.2386A>G (p.Ile796Val)
|
rs774012350
|
0.00001
|
NM_013352.4(DSE):c.404C>T (p.Ala135Val)
|
rs370430595
|
0.00001
|
NM_013352.4(DSE):c.495G>T (p.Leu165Phe)
|
rs1057524129
|
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.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+5G>A
|
rs771663705
|
0.00001
|
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe)
|
rs1064796637
|
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.1309C>A (p.Pro437Thr)
|
rs1763419968
|
0.00001
|
NM_014244.5(ADAMTS2):c.1375T>C (p.Tyr459His)
|
rs1330093880
|
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.1478G>A (p.Arg493His)
|
rs758348587
|
0.00001
|
NM_014244.5(ADAMTS2):c.1523C>A (p.Thr508Asn)
|
rs1174952034
|
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.1723C>T (p.Arg575Cys)
|
rs1212597027
|
0.00001
|
NM_014244.5(ADAMTS2):c.1741G>A (p.Val581Met)
|
rs778993977
|
0.00001
|
NM_014244.5(ADAMTS2):c.1819T>C (p.Phe607Leu)
|
rs1238183487
|
0.00001
|
NM_014244.5(ADAMTS2):c.1834C>T (p.Arg612Cys)
|
rs756757077
|
0.00001
|
NM_014244.5(ADAMTS2):c.1847C>T (p.Pro616Leu)
|
rs1218050137
|
0.00001
|
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys)
|
rs752401488
|
0.00001
|
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn)
|
rs376707472
|
0.00001
|
NM_014244.5(ADAMTS2):c.2191C>T (p.Arg731Trp)
|
rs997669873
|
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.2305G>C (p.Glu769Gln)
|
rs867147371
|
0.00001
|
NM_014244.5(ADAMTS2):c.2351G>T (p.Ser784Ile)
|
rs749754452
|
0.00001
|
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp)
|
rs376995938
|
0.00001
|
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln)
|
rs772028555
|
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.2794C>T (p.Arg932Trp)
|
rs776975672
|
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.2939G>A (p.Arg980Gln)
|
rs1441303816
|
0.00001
|
NM_014244.5(ADAMTS2):c.295G>A (p.Gly99Arg)
|
rs553818378
|
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.3116G>A (p.Ser1039Asn)
|
rs771197106
|
0.00001
|
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn)
|
rs1252240288
|
0.00001
|
NM_014244.5(ADAMTS2):c.3318A>G (p.Ile1106Met)
|
rs773167287
|
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.3625G>A (p.Gly1209Arg)
|
rs769813298
|
0.00001
|
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr)
|
rs774483457
|
0.00001
|
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met)
|
rs780603629
|
0.00001
|
NM_014244.5(ADAMTS2):c.563A>G (p.Glu188Gly)
|
rs772175576
|
0.00001
|
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)
|
rs756807336
|
0.00001
|
NM_014244.5(ADAMTS2):c.745C>T (p.His249Tyr)
|
rs1764735032
|
0.00001
|
NM_014244.5(ADAMTS2):c.848G>A (p.Gly283Glu)
|
rs760325496
|
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.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.386T>C (p.Ile129Thr)
|
rs201579172
|
0.00001
|
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr)
|
rs751708321
|
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.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_080605.4(B3GALT6):c.149C>A (p.Pro50His)
|
rs1156566104
|
0.00001
|
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys)
|
rs924068844
|
0.00001
|
NM_080605.4(B3GALT6):c.353del (p.Asp118fs)
|
rs750088530
|
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.631C>T (p.Pro211Ser)
|
rs760685441
|
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.731C>T (p.Ser244Phe)
|
rs1381077083
|
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_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.325C>T (p.Arg109Trp)
|
rs201632751
|
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.467A>G (p.Lys156Arg)
|
rs1017593366
|
0.00001
|
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly)
|
rs1595869476
|
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.871G>A (p.Val291Met)
|
rs369563820
|
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
|
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)_(12010597_?)del
|
|
|
NC_000001.10:g.(?_12020703)_(12027148_?)dup
|
|
|
NC_000001.10:g.(?_861322)_(3768971_?)del
|
|
|
NC_000001.10:g.(?_948954)_(1284445_?)dup
|
|
|
NC_000001.11:g.(?_1013554)_(1313808_?)del
|
|
|
NC_000001.11:g.(?_11934770)_(11934865_?)dup
|
|
|
NC_000002.11:g.(?_189849903)_(189957166_?)dup
|
|
|
NC_000002.11:g.(?_189860831)_(189861242_?)dup
|
|
|
NC_000002.11:g.(?_189898796)_(189953518_?)dup
|
|
|
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.(?_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.(?_178562901)_(178700075_?)dup
|
|
|
NC_000005.9:g.(?_178699902)_(179263603_?)dup
|
|
|
NC_000005.9:g.(?_178770748)_(178772329_?)dup
|
|
|
NC_000005.9:g.(?_178770748)_(178772349_?)dup
|
|
|
NC_000006.11:g.(?_75796253)_(75855181_?)del
|
|
|
NC_000006.11:g.(?_75796263)_(75813546_?)dup
|
|
|
NC_000006.11:g.(?_75806949)_(75807042_?)del
|
|
|
NC_000006.11:g.(?_75833644)_(75847315_?)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.(?_94040181)_(94059705_?)dup
|
|
|
NC_000007.14:g.(?_30010573)_(30014903_?)del
|
|
|
NC_000007.14:g.(?_94395022)_(94585525_?)dup
|
|
|
NC_000009.11:g.(?_134379574)_(138678377_?)dup
|
|
|
NC_000009.11:g.(?_137533651)_(137534142_?)dup
|
|
|
NC_000009.11:g.(?_137534028)_(137534148_?)dup
|
|
|
NC_000009.11:g.(?_137534034)_(137630674_?)dup
|
|
|
NC_000009.11:g.(?_137534034)_(139440238_?)dup
|
|
|
NC_000009.11:g.(?_137619102)_(137619253_?)del
|
|
|
NC_000009.11:g.(?_137623322)_(137623993_?)del
|
|
|
NC_000009.11:g.(?_137703323)_(137734200_?)del
|
|
|
NC_000009.11:g.(?_137721802)_(137734169_?)dup
|
|
|
NC_000009.12:g.(?_134690892)_(134691099_?)del
|
|
|
NC_000009.12:g.(?_134727246)_(134728827_?)del
|
|
|
NC_000009.12:g.(?_134789143)_(134789218_?)dup
|
|
|
NC_000009.12:g.(?_134842137)_(134842323_?)del
|
|
|
NC_000009.12:g.(?_134842147)_(134842313_?)del
|
|
|
NC_000015.9:g.(?_40763403)_(40764553_?)dup
|
|
|
NC_000015.9:g.(?_40763413)_(40764543_?)dup
|
|
|
NM_000089.4(COL1A2):c.1035+4A>T
|
|
|
NM_000089.4(COL1A2):c.1041G>T (p.Glu347Asp)
|
|
|
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)
|
|
|
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp)
|
rs1057518430
|
|
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)
|
|
|
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)
|
rs748961276
|
|
NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)
|
|
|
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)
|
|
|
NM_000089.4(COL1A2):c.1178C>A (p.Pro393Gln)
|
|
|
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)
|
|
|
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+5G>C
|
|
|
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
|
|
|
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)
|
|
|
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile)
|
rs376629202
|
|
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=)
|
rs779173151
|
|
NM_000089.4(COL1A2):c.133-3C>A
|
rs1562897561
|
|
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys)
|
rs1446399667
|
|
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr)
|
rs2115902728
|
|
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr)
|
rs562290953
|
|
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln)
|
rs1562902082
|
|
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)
|
|
|
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
|
|
|
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.1430C>T (p.Pro477Leu)
|
|
|
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu)
|
rs778238943
|
|
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)
|
|
|
NM_000089.4(COL1A2):c.1444C>A (p.Pro482Thr)
|
|
|
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr)
|
rs2115904550
|
|
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.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+5G>A
|
|
|
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)
|
|
|
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup)
|
rs1791961847
|
|
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser)
|
rs1185283931
|
|
NM_000089.4(COL1A2):c.1557+6T>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.157G>A (p.Asp53Asn)
|
|
|
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)
|
|
|
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)
|
|
|
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser)
|
rs42524
|
|
NM_000089.4(COL1A2):c.1652C>T (p.Pro551Leu)
|
|
|
NM_000089.4(COL1A2):c.1665+14_1665+15delinsCG
|
|
|
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr)
|
rs2115910291
|
|
NM_000089.4(COL1A2):c.1700T>C (p.Val567Ala)
|
|
|
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu)
|
rs2115910396
|
|
NM_000089.4(COL1A2):c.1719+19A>G
|
|
|
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
|
|
|
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)
|
|
|
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.1789A>G (p.Ser597Gly)
|
|
|
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)
|
|
|
NM_000089.4(COL1A2):c.1826G>A (p.Arg609Gln)
|
|
|
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)
|
|
|
NM_000089.4(COL1A2):c.1888G>A (p.Val630Met)
|
|
|
NM_000089.4(COL1A2):c.1890G>A (p.Val630=)
|
|
|
NM_000089.4(COL1A2):c.1895C>G (p.Thr632Ser)
|
|
|
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly)
|
rs2115921517
|
|
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.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.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.1987A>G (p.Arg663Gly)
|
|
|
NM_000089.4(COL1A2):c.199C>T (p.Pro67Ser)
|
|
|
NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)
|
|
|
NM_000089.4(COL1A2):c.2025+4A>G
|
|
|
NM_000089.4(COL1A2):c.2074G>A (p.Asp692Asn)
|
|
|
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
|
|
|
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.2101C>G (p.Pro701Ala)
|
|
|
NM_000089.4(COL1A2):c.2113G>T (p.Ala705Ser)
|
|
|
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro)
|
rs72658163
|
|
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)
|
|
|
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu)
|
rs773392397
|
|
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly)
|
rs1584326175
|
|
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile)
|
rs189374343
|
|
NM_000089.4(COL1A2):c.2187+6T>A
|
rs794727585
|
|
NM_000089.4(COL1A2):c.2188-6_2188-1dup
|
|
|
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)
|
|
|
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
|
|
|
NM_000089.4(COL1A2):c.2276T>C (p.Val759Ala)
|
|
|
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)
|
|
|
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.22C>T (p.Arg8Trp)
|
|
|
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.2345C>T (p.Pro782Leu)
|
|
|
NM_000089.4(COL1A2):c.2349+3G>A
|
|
|
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
|
|
|
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)
|
|
|
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.2429C>G (p.Pro810Arg)
|
|
|
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.2474A>C (p.Gln825Pro)
|
rs556922843
|
|
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)
|
|
|
NM_000089.4(COL1A2):c.2482G>T (p.Val828Phe)
|
|
|
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)
|
|
|
NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)
|
|
|
NM_000089.4(COL1A2):c.2515C>T (p.Pro839Ser)
|
|
|
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.2554G>A (p.Ala852Thr)
|
|
|
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)
|
|
|
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser)
|
rs150179964
|
|
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val)
|
rs538945650
|
|
NM_000089.4(COL1A2):c.2596CTT[1] (p.Leu867del)
|
|
|
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
|
|
|
NM_000089.4(COL1A2):c.266G>T (p.Gly89Val)
|
|
|
NM_000089.4(COL1A2):c.2673+6T>A
|
|
|
NM_000089.4(COL1A2):c.2673G>A (p.Val891=)
|
rs1114167364
|
|
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.2740A>G (p.Ser914Gly)
|
|
|
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)
|
|
|
NM_000089.4(COL1A2):c.2771C>G (p.Ala924Gly)
|
|
|
NM_000089.4(COL1A2):c.2776C>T (p.Arg926Cys)
|
|
|
NM_000089.4(COL1A2):c.2781+16G>A
|
|
|
NM_000089.4(COL1A2):c.2782-13G>A
|
|
|
NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)
|
|
|
NM_000089.4(COL1A2):c.279+3A>G
|
|
|
NM_000089.4(COL1A2):c.280-7_280-3del
|
rs2115874855
|
|
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr)
|
rs1476399806
|
|
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)
|
rs779303344
|
|
NM_000089.4(COL1A2):c.2858A>G (p.Asn953Ser)
|
|
|
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val)
|
rs1482901474
|
|
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
|
|
|
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=)
|
rs142352627
|
|
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly)
|
rs2115952651
|
|
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)
|
|
|
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala)
|
rs1584330105
|
|
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu)
|
rs1792270576
|
|
NM_000089.4(COL1A2):c.2997+6T>A
|
rs1584330154
|
|
NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)
|
|
|
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)
|
|
|
NM_000089.4(COL1A2):c.302C>T (p.Pro101Leu)
|
|
|
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.3074A>G (p.His1025Arg)
|
|
|
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)
|
|
|
NM_000089.4(COL1A2):c.3118G>T (p.Asp1040Tyr)
|
|
|
NM_000089.4(COL1A2):c.3130C>T (p.Pro1044Ser)
|
|
|
NM_000089.4(COL1A2):c.3159+3A>C
|
rs2115957293
|
|
NM_000089.4(COL1A2):c.3159+6T>A
|
rs2115957317
|
|
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)
|
|
|
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)
|
|
|
NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)
|
|
|
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.3226C>T (p.Pro1076Ser)
|
rs763974489
|
|
NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)
|
|
|
NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)
|
|
|
NM_000089.4(COL1A2):c.3267+5G>C
|
rs2115958193
|
|
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5])
|
rs74315103
|
|
NM_000089.4(COL1A2):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)
|
|
|
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.3355G>C (p.Ala1119Pro)
|
rs193922168
|
|
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.3443C>T (p.Thr1148Ile)
|
|
|
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.3502C>A (p.Leu1168Ile)
|
|
|
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)
|
|
|
NM_000089.4(COL1A2):c.3526+3A>G
|
|
|
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del)
|
rs1554398685
|
|
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.3575A>G (p.Lys1192Arg)
|
|
|
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr)
|
rs1792329797
|
|
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)
|
|
|
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro)
|
rs200492800
|
|
NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)
|
|
|
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys)
|
rs267601644
|
|
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.367C>A (p.Pro123Thr)
|
rs774383359
|
|
NM_000089.4(COL1A2):c.368C>A (p.Pro123His)
|
rs1791759808
|
|
NM_000089.4(COL1A2):c.3711+3G>A
|
|
|
NM_000089.4(COL1A2):c.3711+6G>A
|
|
|
NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)
|
|
|
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val)
|
rs1792349508
|
|
NM_000089.4(COL1A2):c.3760C>T (p.Leu1254Phe)
|
|
|
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.379-3T>C
|
|
|
NM_000089.4(COL1A2):c.3797A>C (p.Gln1266Pro)
|
|
|
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser)
|
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.3866C>G (p.Ala1289Gly)
|
|
|
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg)
|
rs2115966913
|
|
NM_000089.4(COL1A2):c.3889G>A (p.Asp1297Asn)
|
|
|
NM_000089.4(COL1A2):c.3897A>C (p.Glu1299Asp)
|
|
|
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.3974G>A (p.Gly1325Glu)
|
|
|
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met)
|
rs943353660
|
|
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)
|
|
|
NM_000089.4(COL1A2):c.4047C>G (p.Ile1349Met)
|
|
|
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter)
|
rs760626067
|
|
NM_000089.4(COL1A2):c.4069T>C (p.Phe1357Leu)
|
|
|
NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)
|
|
|
NM_000089.4(COL1A2):c.417C>T (p.Gly139=)
|
|
|
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser)
|
rs1791770915
|
|
NM_000089.4(COL1A2):c.440C>G (p.Pro147Arg)
|
|
|
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys)
|
rs1791771795
|
|
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)
|
|
|
NM_000089.4(COL1A2):c.500T>C (p.Phe167Ser)
|
|
|
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser)
|
rs2115879087
|
|
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.531A>C (p.Lys177Asn)
|
|
|
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)
|
|
|
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)
|
|
|
NM_000089.4(COL1A2):c.595-5T>G
|
|
|
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.665G>C (p.Arg222Thr)
|
|
|
NM_000089.4(COL1A2):c.693+2dup
|
rs2115888133
|
|
NM_000089.4(COL1A2):c.693+6T>G
|
rs2115888140
|
|
NM_000089.4(COL1A2):c.709G>A (p.Asp237Asn)
|
|
|
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
|
|
|
NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)
|
|
|
NM_000089.4(COL1A2):c.739-3C>T
|
|
|
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.790A>G (p.Lys264Glu)
|
|
|
NM_000089.4(COL1A2):c.792+6A>C
|
|
|
NM_000089.4(COL1A2):c.798A>C (p.Glu266Asp)
|
|
|
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)
|
|
|
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)
|
|
|
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp)
|
rs2115851777
|
|
NM_000089.4(COL1A2):c.82-6T>C
|
|
|
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)
|
|
|
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys)
|
rs1479695906
|
|
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.853G>T (p.Val285Leu)
|
|
|
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)
|
|
|
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile)
|
rs145693444
|
|
NM_000089.4(COL1A2):c.887C>A (p.Pro296His)
|
|
|
NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)
|
|
|
NM_000089.4(COL1A2):c.891+4A>G
|
|
|
NM_000089.4(COL1A2):c.891T>G (p.Pro297=)
|
|
|
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr)
|
rs2115893108
|
|
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)
|
|
|
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser)
|
rs2115894024
|
|
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr)
|
rs1791879479
|
|
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)
|
|
|
NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)
|
|
|
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
|
|
|
NM_000090.4(COL3A1):c.1013C>T (p.Pro338Leu)
|
rs2153502229
|
|
NM_000090.4(COL3A1):c.1029C>G (p.Phe343Leu)
|
rs1688218053
|
|
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile)
|
rs368703012
|
|
NM_000090.4(COL3A1):c.1064C>A (p.Pro355His)
|
|
|
NM_000090.4(COL3A1):c.1072T>C (p.Ser358Pro)
|
|
|
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser)
|
|
|
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg)
|
rs1464219199
|
|
NM_000090.4(COL3A1):c.1103G>C (p.Arg368Thr)
|
|
|
NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu)
|
rs1060500205
|
|
NM_000090.4(COL3A1):c.111G>C (p.Gln37His)
|
rs2153501346
|
|
NM_000090.4(COL3A1):c.1128C>A (p.His376Gln)
|
|
|
NM_000090.4(COL3A1):c.1149+5G>A
|
rs587779538
|
|
NM_000090.4(COL3A1):c.1154C>T (p.Pro385Leu)
|
|
|
NM_000090.4(COL3A1):c.1195-13G>A
|
|
|
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.121G>A (p.Asp41Asn)
|
rs794728035
|
|
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val)
|
rs1026603456
|
|
NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp)
|
|
|
NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser)
|
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
NM_000090.4(COL3A1):c.1316C>T (p.Ala439Val)
|
|
|
NM_000090.4(COL3A1):c.1336C>T (p.Arg446Cys)
|
rs1238066761
|
|
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)
|
|
|
NM_000090.4(COL3A1):c.1347C>G (p.Arg449=)
|
|
|
NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser)
|
|
|
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys)
|
rs2153502439
|
|
NM_000090.4(COL3A1):c.1389A>C (p.Glu463Asp)
|
|
|
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser)
|
rs1425504057
|
|
NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp)
|
|
|
NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys)
|
|
|
NM_000090.4(COL3A1):c.1455+5G>A
|
rs774425143
|
|
NM_000090.4(COL3A1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000090.4(COL3A1):c.149G>C (p.Cys50Ser)
|
|
|
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.1541C>A (p.Pro514His)
|
|
|
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.156A>G (p.Ile52Met)
|
|
|
NM_000090.4(COL3A1):c.1608+6G>C
|
rs1688293957
|
|
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg)
|
rs868705044
|
|
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+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.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.1706C>G (p.Ser569Cys)
|
|
|
NM_000090.4(COL3A1):c.1762-3T>C
|
|
|
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr)
|
rs1327158014
|
|
NM_000090.4(COL3A1):c.1778A>T (p.Asn593Ile)
|
|
|
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala)
|
rs35795890
|
|
NM_000090.4(COL3A1):c.1815+6T>C
|
rs1688347657
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
NM_000090.4(COL3A1):c.1840A>G (p.Thr614Ala)
|
|
|
NM_000090.4(COL3A1):c.1865C>T (p.Pro622Leu)
|
|
|
NM_000090.4(COL3A1):c.1869+3A>C
|
rs1576467168
|
|
NM_000090.4(COL3A1):c.1873C>G (p.Pro625Ala)
|
|
|
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn)
|
rs1688031625
|
|
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.18A>C (p.Gln6His)
|
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
NM_000090.4(COL3A1):c.1924-13_1924-2del
|
|
|
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
|
rs1440480352
|
|
NM_000090.4(COL3A1):c.1967C>G (p.Pro656Arg)
|
|
|
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)
|
rs2153501357
|
|
NM_000090.4(COL3A1):c.1977+5G>C
|
rs1553508544
|
|
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.2021A>G (p.Lys674Arg)
|
|
|
NM_000090.4(COL3A1):c.2022+4G>A
|
rs886038865
|
|
NM_000090.4(COL3A1):c.2030C>G (p.Ala677Gly)
|
rs2153502991
|
|
NM_000090.4(COL3A1):c.2053C>T (p.Pro685Ser)
|
|
|
NM_000090.4(COL3A1):c.2079A>T (p.Gly693=)
|
|
|
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
|
|
|
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.2107C>T (p.Pro703Ser)
|
rs780123051
|
|
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu)
|
rs1688401669
|
|
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu)
|
rs1688402397
|
|
NM_000090.4(COL3A1):c.2121+4del
|
rs1688402573
|
|
NM_000090.4(COL3A1):c.2122-11C>G
|
|
|
NM_000090.4(COL3A1):c.2126C>A (p.Ala709Asp)
|
|
|
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu)
|
rs780028064
|
|
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.2224G>T (p.Asp742Tyr)
|
|
|
NM_000090.4(COL3A1):c.2226C>A (p.Asp742Glu)
|
|
|
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
|
|
|
NM_000090.4(COL3A1):c.2236C>T (p.Pro746Ser)
|
|
|
NM_000090.4(COL3A1):c.2255A>G (p.Asp752Gly)
|
|
|
NM_000090.4(COL3A1):c.2261T>A (p.Val754Asp)
|
rs200390941
|
|
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly)
|
rs2153503070
|
|
NM_000090.4(COL3A1):c.2283+5G>A
|
|
|
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.2308C>T (p.Pro770Ser)
|
|
|
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
|
|
|
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp)
|
rs370292679
|
|
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)
|
|
|
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser)
|
rs749803388
|
|
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr)
|
rs1179918994
|
|
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His)
|
rs1332613006
|
|
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)
|
|
|
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)
|
|
|
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)
|
|
|
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.2416C>T (p.Pro806Ser)
|
|
|
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)
|
rs1576460785
|
|
NM_000090.4(COL3A1):c.2445+5G>A
|
rs587779636
|
|
NM_000090.4(COL3A1):c.2446-15T>A
|
|
|
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.253T>C (p.Cys85Arg)
|
|
|
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.2593A>G (p.Ser865Gly)
|
|
|
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His)
|
rs794728052
|
|
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro)
|
rs1475390693
|
|
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser)
|
rs761222859
|
|
NM_000090.4(COL3A1):c.2633G>T (p.Arg878Leu)
|
rs1419949637
|
|
NM_000090.4(COL3A1):c.2647_2655dup (p.Gly885_Ser886insProProGly)
|
|
|
NM_000090.4(COL3A1):c.2661T>C (p.Asn887=)
|
rs1306865410
|
|
NM_000090.4(COL3A1):c.2668C>G (p.Pro890Ala)
|
rs794728053
|
|
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.2711C>T (p.Pro904Leu)
|
|
|
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu)
|
rs886055333
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
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.2819C>A (p.Pro940Gln)
|
rs1221479337
|
|
NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe)
|
rs1060500198
|
|
NM_000090.4(COL3A1):c.2867G>T (p.Arg956Leu)
|
|
|
NM_000090.4(COL3A1):c.2876C>T (p.Ala959Val)
|
rs2153503530
|
|
NM_000090.4(COL3A1):c.289C>G (p.Arg97Gly)
|
rs768671254
|
|
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.2927T>C (p.Val976Ala)
|
rs886038939
|
|
NM_000090.4(COL3A1):c.2931+3G>C
|
|
|
NM_000090.4(COL3A1):c.2958_2959insCGT (p.Asn986_Gly987insArg)
|
|
|
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His)
|
rs770525372
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
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.2983C>T (p.Pro995Ser)
|
rs1421131137
|
|
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.301G>T (p.Gly101Cys)
|
|
|
NM_000090.4(COL3A1):c.3025G>C (p.Glu1009Gln)
|
|
|
NM_000090.4(COL3A1):c.3028C>T (p.Pro1010Ser)
|
|
|
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
|
|
|
NM_000090.4(COL3A1):c.3040-3C>G
|
rs2153503706
|
|
NM_000090.4(COL3A1):c.3065C>T (p.Pro1022Leu)
|
|
|
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala)
|
|
|
NM_000090.4(COL3A1):c.3082C>T (p.Pro1028Ser)
|
rs2153503710
|
|
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
|
|
|
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.3119C>T (p.Pro1040Leu)
|
|
|
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser)
|
rs2153503729
|
|
NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser)
|
rs1576471847
|
|
NM_000090.4(COL3A1):c.3170C>G (p.Pro1057Arg)
|
rs1576471860
|
|
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn)
|
rs886039067
|
|
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.3214C>T (p.Pro1072Ser)
|
rs1688598580
|
|
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg)
|
|
|
NM_000090.4(COL3A1):c.3256-43T>G
|
rs587779667
|
|
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.3277G>A (p.Asp1093Asn)
|
rs2153503891
|
|
NM_000090.4(COL3A1):c.3314T>G (p.Ile1105Ser)
|
|
|
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr)
|
|
|
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg)
|
rs1688621770
|
|
NM_000090.4(COL3A1):c.333+4A>G
|
rs1688041454
|
|
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu)
|
rs1376067428
|
|
NM_000090.4(COL3A1):c.334-3T>C
|
rs2153501467
|
|
NM_000090.4(COL3A1):c.3353C>T (p.Pro1118Leu)
|
|
|
NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp)
|
|
|
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser)
|
rs1688630479
|
|
NM_000090.4(COL3A1):c.3381G>T (p.Gln1127His)
|
|
|
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val)
|
rs1688631496
|
|
NM_000090.4(COL3A1):c.3412C>T (p.Pro1138Ser)
|
|
|
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)
|
rs964468427
|
|
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser)
|
rs1287518692
|
|
NM_000090.4(COL3A1):c.3451G>A (p.Asp1151Asn)
|
rs1688635701
|
|
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.347T>C (p.Ile116Thr)
|
|
|
NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro)
|
|
|
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr)
|
rs1559052973
|
|
NM_000090.4(COL3A1):c.350C>T (p.Pro117Leu)
|
|
|
NM_000090.4(COL3A1):c.3515G>C (p.Arg1172Thr)
|
rs1553509668
|
|
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.3529T>A (p.Ser1177Thr)
|
rs1006132401
|
|
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
|
|
|
NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln)
|
rs2153504073
|
|
NM_000090.4(COL3A1):c.3538C>T (p.His1180Tyr)
|
|
|
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser)
|
rs2153504076
|
|
NM_000090.4(COL3A1):c.3560C>A (p.Pro1187His)
|
|
|
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
|
rs1324996402
|
|
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
|
|
|
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
|
|
|
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.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.3656A>G (p.Tyr1219Cys)
|
|
|
NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His)
|
|
|
NM_000090.4(COL3A1):c.3695A>G (p.Asp1232Gly)
|
|
|
NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys)
|
|
|
NM_000090.4(COL3A1):c.3710C>T (p.Ser1237Leu)
|
|
|
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.3756T>G (p.Asp1252Glu)
|
|
|
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu)
|
rs368119434
|
|
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln)
|
rs946156674
|
|
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.3823+4T>C
|
|
|
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.3850G>A (p.Gly1284Arg)
|
|
|
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.3885T>A (p.Asn1295Lys)
|
|
|
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.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.3969G>C (p.Lys1323Asn)
|
rs2153504249
|
|
NM_000090.4(COL3A1):c.3971A>G (p.Lys1324Arg)
|
rs2153504251
|
|
NM_000090.4(COL3A1):c.3985G>C (p.Gly1329Arg)
|
|
|
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.4001G>T (p.Gly1334Val)
|
|
|
NM_000090.4(COL3A1):c.4007T>G (p.Phe1336Cys)
|
|
|
NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His)
|
|
|
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.4043A>G (p.Asp1348Gly)
|
rs1688703417
|
|
NM_000090.4(COL3A1):c.4046T>G (p.Val1349Gly)
|
|
|
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val)
|
rs945183835
|
|
NM_000090.4(COL3A1):c.4078C>A (p.Leu1360Ile)
|
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
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.4135A>G (p.Met1379Val)
|
rs1060500196
|
|
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His)
|
rs1029608155
|
|
NM_000090.4(COL3A1):c.4148G>A (p.Ser1383Asn)
|
|
|
NM_000090.4(COL3A1):c.4151G>A (p.Gly1384Glu)
|
|
|
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)
|
rs1158116878
|
|
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys)
|
rs768168922
|
|
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.4254G>A (p.Thr1418=)
|
rs587779565
|
|
NM_000090.4(COL3A1):c.4255-1G>T
|
rs1688728266
|
|
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn)
|
rs754723643
|
|
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.4290A>C (p.Glu1430Asp)
|
|
|
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln)
|
rs772428340
|
|
NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile)
|
|
|
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro)
|
rs148015311
|
|
NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu)
|
rs1553510005
|
|
NM_000090.4(COL3A1):c.4327G>A (p.Asp1443Asn)
|
rs1553510008
|
|
NM_000090.4(COL3A1):c.4334C>A (p.Ala1445Glu)
|
|
|
NM_000090.4(COL3A1):c.4351G>C (p.Gly1451Arg)
|
rs1688731786
|
|
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.4382G>T (p.Gly1461Val)
|
rs1576474944
|
|
NM_000090.4(COL3A1):c.4394T>C (p.Phe1465Ser)
|
rs1553510018
|
|
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
|
|
|
NM_000090.4(COL3A1):c.443C>T (p.Pro148Leu)
|
|
|
NM_000090.4(COL3A1):c.447+14G>A
|
|
|
NM_000090.4(COL3A1):c.447G>A (p.Gln149=)
|
|
|
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.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.499GGA[1] (p.Gly168del)
|
rs1688079577
|
|
NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys)
|
|
|
NM_000090.4(COL3A1):c.532C>T (p.Pro178Ser)
|
|
|
NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg)
|
|
|
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu)
|
rs746628029
|
|
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.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
|
|
|
NM_000090.4(COL3A1):c.568C>T (p.His190Tyr)
|
|
|
NM_000090.4(COL3A1):c.582+6dup
|
|
|
NM_000090.4(COL3A1):c.583-4C>G
|
|
|
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val)
|
rs1342128671
|
|
NM_000090.4(COL3A1):c.616C>T (p.Pro206Ser)
|
rs1688112134
|
|
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.62T>A (p.Ile21Asn)
|
|
|
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu)
|
|
|
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
|
|
|
NM_000090.4(COL3A1):c.662T>C (p.Ile221Thr)
|
|
|
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala)
|
rs1325737333
|
|
NM_000090.4(COL3A1):c.676C>T (p.Pro226Ser)
|
|
|
NM_000090.4(COL3A1):c.677C>T (p.Pro226Leu)
|
|
|
NM_000090.4(COL3A1):c.691-27_691-8del
|
|
|
NM_000090.4(COL3A1):c.707C>G (p.Pro236Arg)
|
rs1688155159
|
|
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
|
|
|
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly)
|
rs1333421028
|
|
NM_000090.4(COL3A1):c.740C>T (p.Pro247Leu)
|
|
|
NM_000090.4(COL3A1):c.745-3T>C
|
|
|
NM_000090.4(COL3A1):c.745-3T>G
|
|
|
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)
|
rs748787122
|
|
NM_000090.4(COL3A1):c.751A>G (p.Lys251Glu)
|
|
|
NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu)
|
|
|
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
|
rs1688161240
|
|
NM_000090.4(COL3A1):c.79+2_79+3dup
|
rs1687768135
|
|
NM_000090.4(COL3A1):c.79+4A>G
|
|
|
NM_000090.4(COL3A1):c.798+4A>C
|
|
|
NM_000090.4(COL3A1):c.798+6T>C
|
|
|
NM_000090.4(COL3A1):c.815A>G (p.Asn272Ser)
|
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
NM_000090.4(COL3A1):c.825G>C (p.Lys275Asn)
|
|
|
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
|
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
NM_000090.4(COL3A1):c.852+3A>G
|
|
|
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
|
|
|
NM_000090.4(COL3A1):c.86_88del (p.Glu29del)
|
rs1559052566
|
|
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp)
|
rs1131691328
|
|
NM_000090.4(COL3A1):c.895A>G (p.Met299Val)
|
|
|
NM_000090.4(COL3A1):c.910G>T (p.Ala304Ser)
|
|
|
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)
|
rs1204385773
|
|
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+7A>G
|
|
|
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln)
|
rs778179067
|
|
NM_000090.4(COL3A1):c.962_963insAAATGACGGTGCTCGAGG (p.Gly327_Ser328insAsnAspGlyAlaArgGly)
|
|
|
NM_000090.4(COL3A1):c.977G>A (p.Arg326Gln)
|
|
|
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
|
|
|
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu)
|
rs1834832160
|
|
NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys)
|
|
|
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)
|
rs1588479393
|
|
NM_000093.5(COL5A1):c.104G>A (p.Arg35His)
|
|
|
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn)
|
rs1834835178
|
|
NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del)
|
|
|
NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln)
|
|
|
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.1097A>G (p.Gln366Arg)
|
rs761227399
|
|
NM_000093.5(COL5A1):c.110-3C>G
|
rs1554780148
|
|
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu)
|
rs1834838212
|
|
NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val)
|
|
|
NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly)
|
|
|
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His)
|
rs868555520
|
|
NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr)
|
|
|
NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp)
|
|
|
NM_000093.5(COL5A1):c.1165-2_1169dup
|
rs2132641901
|
|
NM_000093.5(COL5A1):c.1165-4G>T
|
rs1834877909
|
|
NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly)
|
|
|
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.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.1266C>G (p.Asp422Glu)
|
|
|
NM_000093.5(COL5A1):c.126_128del (p.Leu43del)
|
rs1564390373
|
|
NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn)
|
|
|
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.1298G>C (p.Gly433Ala)
|
rs2132642300
|
|
NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val)
|
rs1060502244
|
|
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
|
|
|
NM_000093.5(COL5A1):c.1332+3G>A
|
|
|
NM_000093.5(COL5A1):c.1332+5G>A
|
rs1564417882
|
|
NM_000093.5(COL5A1):c.1333-19T>A
|
rs2132643213
|
|
NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC
|
rs1588481731
|
|
NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val)
|
rs1060502243
|
|
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
|
|
|
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.1406_1407delinsAA (p.Gly469Glu)
|
|
|
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+5G>C
|
rs1835185397
|
|
NM_000093.5(COL5A1):c.1432G>A (p.Gly478Ser)
|
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
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.1454C>T (p.Thr485Ile)
|
|
|
NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg)
|
rs2132655977
|
|
NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala)
|
|
|
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+15_1569+16inv
|
|
|
NM_000093.5(COL5A1):c.1569+6T>C
|
rs1588502477
|
|
NM_000093.5(COL5A1):c.162A>T (p.Gly54=)
|
rs764431997
|
|
NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe)
|
|
|
NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys)
|
|
|
NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val)
|
rs767143136
|
|
NM_000093.5(COL5A1):c.1662+6T>C
|
|
|
NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser)
|
|
|
NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)
|
|
|
NM_000093.5(COL5A1):c.1720-3T>C
|
rs960627780
|
|
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.1850C>T (p.Ala617Val)
|
rs1588508705
|
|
NM_000093.5(COL5A1):c.1881+3A>G
|
|
|
NM_000093.5(COL5A1):c.1881+4G>A
|
|
|
NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly)
|
rs2132698898
|
|
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)
|
rs781663334
|
|
NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn)
|
rs918992441
|
|
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr)
|
rs1836060732
|
|
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu)
|
rs150890005
|
|
NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro)
|
rs146074704
|
|
NM_000093.5(COL5A1):c.1989+5G>C
|
|
|
NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln)
|
rs764603796
|
|
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys)
|
rs1564445192
|
|
NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu)
|
|
|
NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala)
|
|
|
NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys)
|
|
|
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.2138C>T (p.Pro713Leu)
|
|
|
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser)
|
rs1564446104
|
|
NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu)
|
|
|
NM_000093.5(COL5A1):c.2187+4A>G
|
rs919497204
|
|
NM_000093.5(COL5A1):c.2187+6T>C
|
rs1836698236
|
|
NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr)
|
rs2132729311
|
|
NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)
|
|
|
NM_000093.5(COL5A1):c.2232+4G>C
|
rs1060502257
|
|
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.2284C>A (p.Pro762Thr)
|
|
|
NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln)
|
|
|
NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg)
|
|
|
NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg)
|
rs1554797269
|
|
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+4G>C
|
rs1588532335
|
|
NM_000093.5(COL5A1):c.2331+4_2331+5dup
|
|
|
NM_000093.5(COL5A1):c.2331G>A (p.Gln777=)
|
rs1588532322
|
|
NM_000093.5(COL5A1):c.2332-5T>G
|
rs2132747878
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala)
|
|
|
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+3G>A
|
|
|
NM_000093.5(COL5A1):c.2386-8C>A
|
rs1588539610
|
|
NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp)
|
|
|
NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)
|
|
|
NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly)
|
|
|
NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT
|
|
|
NM_000093.5(COL5A1):c.2430+5G>T
|
|
|
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.246G>T (p.Gln82His)
|
rs777607116
|
|
NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly)
|
|
|
NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser)
|
|
|
NM_000093.5(COL5A1):c.2518G>C (p.Asp840His)
|
rs1564457054
|
|
NM_000093.5(COL5A1):c.2558G>A (p.Gly853Asp)
|
|
|
NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del)
|
rs2132551178
|
|
NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg)
|
|
|
NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr)
|
|
|
NM_000093.5(COL5A1):c.2647-3C>G
|
rs746511717
|
|
NM_000093.5(COL5A1):c.2647-3C>T
|
|
|
NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)
|
|
|
NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu)
|
|
|
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.2693G>T (p.Gly898Val)
|
rs910417046
|
|
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.2735G>A (p.Arg912Gln)
|
rs1437668038
|
|
NM_000093.5(COL5A1):c.277+6T>C
|
|
|
NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr)
|
|
|
NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg)
|
|
|
NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly)
|
rs41306397
|
|
NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg)
|
|
|
NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT
|
|
|
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg)
|
rs1330022009
|
|
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp)
|
rs1030105888
|
|
NM_000093.5(COL5A1):c.2844+3A>G
|
rs2132806641
|
|
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=)
|
rs1421835224
|
|
NM_000093.5(COL5A1):c.2851A>C (p.Asn951His)
|
rs1588560410
|
|
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.2902C>G (p.Pro968Ala)
|
rs1564466152
|
|
NM_000093.5(COL5A1):c.2929C>G (p.His977Asp)
|
|
|
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.2952T>C (p.Thr984=)
|
|
|
NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly)
|
rs2132569560
|
|
NM_000093.5(COL5A1):c.2984C>T (p.Pro995Leu)
|
|
|
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.2988C>A (p.Pro996=)
|
rs374409202
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
|
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
|
rs765082093
|
|
NM_000093.5(COL5A1):c.3006+5G>A
|
|
|
NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG
|
|
|
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro)
|
rs1554781476
|
|
NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr)
|
|
|
NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr)
|
rs1838166559
|
|
NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser)
|
|
|
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del)
|
rs863223476
|
|
NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=)
|
|
|
NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val)
|
rs2132827065
|
|
NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp)
|
rs1554803568
|
|
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.3194C>T (p.Pro1065Leu)
|
rs2132827329
|
|
NM_000093.5(COL5A1):c.3205-20A>G
|
rs1198283460
|
|
NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val)
|
rs2132827686
|
|
NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe)
|
|
|
NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu)
|
rs1554803631
|
|
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu)
|
rs863223447
|
|
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
|
|
|
NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys)
|
rs1383949759
|
|
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.32G>T (p.Ser11Ile)
|
|
|
NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser)
|
rs1838292124
|
|
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
|
|
|
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys)
|
rs1838292501
|
|
NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser)
|
rs1204892518
|
|
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.3373A>G (p.Lys1125Glu)
|
|
|
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys)
|
rs1838417062
|
|
NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg)
|
|
|
NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser)
|
|
|
NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val)
|
|
|
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.3421G>C (p.Gly1141Arg)
|
rs1269224473
|
|
NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile)
|
rs1564396163
|
|
NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu)
|
|
|
NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg)
|
|
|
NM_000093.5(COL5A1):c.3474+5G>A
|
|
|
NM_000093.5(COL5A1):c.3474+6G>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.3509A>G (p.Lys1170Arg)
|
rs2132841141
|
|
NM_000093.5(COL5A1):c.3511G>A (p.Gly1171Arg)
|
rs2132841157
|
|
NM_000093.5(COL5A1):c.3528+5G>A
|
|
|
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys)
|
rs1554781494
|
|
NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)
|
|
|
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val)
|
rs1588577285
|
|
NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His)
|
|
|
NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu)
|
rs2132844501
|
|
NM_000093.5(COL5A1):c.3583-33_3583-15del
|
|
|
NM_000093.5(COL5A1):c.3583-7C>G
|
rs1330304599
|
|
NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp)
|
rs1060502247
|
|
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.3617A>G (p.Gln1206Arg)
|
rs1838524740
|
|
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu)
|
rs748000980
|
|
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.3690+2dup
|
rs2132845264
|
|
NM_000093.5(COL5A1):c.3691-3C>A
|
|
|
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu)
|
rs886039091
|
|
NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser)
|
|
|
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=)
|
rs763583510
|
|
NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val)
|
rs767843442
|
|
NM_000093.5(COL5A1):c.3744+6T>A
|
|
|
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala)
|
rs533597740
|
|
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser)
|
rs1833612402
|
|
NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser)
|
|
|
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)
|
rs1554805125
|
|
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg)
|
rs772445337
|
|
NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser)
|
|
|
NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg)
|
rs771146636
|
|
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.3852+4A>T
|
|
|
NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg)
|
rs2132569874
|
|
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.388C>G (p.Leu130Val)
|
|
|
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+8A>G
|
|
|
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.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.3958G>T (p.Ala1320Ser)
|
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu)
|
|
|
NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser)
|
rs1462221629
|
|
NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg)
|
rs1060502254
|
|
NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser)
|
rs759198874
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
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.4048C>A (p.Pro1350Thr)
|
|
|
NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu)
|
rs1255890421
|
|
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
|
|
|
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu)
|
rs2132855475
|
|
NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro)
|
|
|
NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser)
|
|
|
NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu)
|
|
|
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser)
|
rs2132856128
|
|
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.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.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.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
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.4192G>T (p.Ala1398Ser)
|
rs759464073
|
|
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=)
|
rs1397888531
|
|
NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His)
|
rs1554806295
|
|
NM_000093.5(COL5A1):c.4230+5C>A
|
|
|
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
|
|
|
NM_000093.5(COL5A1):c.4231-3C>T
|
|
|
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.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.4275C>G (p.Ile1425Met)
|
rs767372665
|
|
NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu)
|
|
|
NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu)
|
|
|
NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu)
|
rs1554806543
|
|
NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe)
|
|
|
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
|
rs864622040
|
|
NM_000093.5(COL5A1):c.4338+5G>A
|
rs1352729728
|
|
NM_000093.5(COL5A1):c.4339-3C>G
|
rs545993723
|
|
NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg)
|
|
|
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>T (p.Gly1456=)
|
rs1213186421
|
|
NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser)
|
|
|
NM_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala)
|
|
|
NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala)
|
|
|
NM_000093.5(COL5A1):c.4392+6_4392+24dup
|
|
|
NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)
|
|
|
NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala)
|
|
|
NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His)
|
rs1554806674
|
|
NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro)
|
|
|
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys)
|
rs1554806963
|
|
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser)
|
rs1462918582
|
|
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.4537G>A (p.Gly1513Ser)
|
rs1489565447
|
|
NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)
|
|
|
NM_000093.5(COL5A1):c.4554+6T>C
|
|
|
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.4573G>A (p.Gly1525Ser)
|
rs1564484053
|
|
NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala)
|
|
|
NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser)
|
rs1839028504
|
|
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.4643C>G (p.Ser1548Trp)
|
|
|
NM_000093.5(COL5A1):c.4644+4A>G
|
rs1478447420
|
|
NM_000093.5(COL5A1):c.4645-10_4645-7del
|
rs2132879221
|
|
NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser)
|
rs863223460
|
|
NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser)
|
rs1554807811
|
|
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser)
|
rs1172057382
|
|
NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu)
|
|
|
NM_000093.5(COL5A1):c.4698+6T>G
|
|
|
NM_000093.5(COL5A1):c.4699-3C>G
|
rs746861627
|
|
NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro)
|
|
|
NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly)
|
|
|
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.4821C>T (p.Gly1607=)
|
|
|
NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)
|
|
|
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.4897C>G (p.Gln1633Glu)
|
rs1588598244
|
|
NM_000093.5(COL5A1):c.491+3A>C
|
rs1554781526
|
|
NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)
|
|
|
NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr)
|
rs2132884669
|
|
NM_000093.5(COL5A1):c.4954+4A>G
|
rs1564487377
|
|
NM_000093.5(COL5A1):c.4954+6G>C
|
rs1031138847
|
|
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp)
|
rs1206652736
|
|
NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)
|
|
|
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.5009_5011dup (p.Tyr1670_Cys1671insTyr)
|
|
|
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe)
|
rs1554808357
|
|
NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)
|
|
|
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.5036C>A (p.Thr1679Lys)
|
rs1554808365
|
|
NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe)
|
rs1588599870
|
|
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+4A>G
|
rs2132887922
|
|
NM_000093.5(COL5A1):c.5067+5G>A
|
|
|
NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe)
|
rs1564183635
|
|
NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)
|
|
|
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.5136G>T (p.Leu1712=)
|
|
|
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=)
|
rs147434147
|
|
NM_000093.5(COL5A1):c.5159G>T (p.Gly1720Val)
|
rs1243519195
|
|
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.5236T>A (p.Cys1746Ser)
|
|
|
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly)
|
rs1839802608
|
|
NM_000093.5(COL5A1):c.5288C>T (p.Ala1763Val)
|
|
|
NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His)
|
rs2132925845
|
|
NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp)
|
rs1588615582
|
|
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.5318A>G (p.Glu1773Gly)
|
|
|
NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)
|
|
|
NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr)
|
rs1554726285
|
|
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.5360A>G (p.Asp1787Gly)
|
|
|
NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC
|
|
|
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.5416A>G (p.Lys1806Glu)
|
rs1830127605
|
|
NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu)
|
rs1588621758
|
|
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu)
|
rs1554727362
|
|
NM_000093.5(COL5A1):c.544G>T (p.Asp182Tyr)
|
|
|
NM_000093.5(COL5A1):c.5464G>A (p.Glu1822Lys)
|
|
|
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.5513G>A (p.Gly1838Asp)
|
|
|
NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser)
|
|
|
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.608G>A (p.Gly203Asp)
|
|
|
NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu)
|
|
|
NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys)
|
rs763107415
|
|
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
|
|
|
NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg)
|
rs1554787531
|
|
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.707A>G (p.Tyr236Cys)
|
rs2132632715
|
|
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>C (p.Cys244Ser)
|
|
|
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.7G>T (p.Val3Phe)
|
rs1383699147
|
|
NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys)
|
rs1834748686
|
|
NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp)
|
rs1834749472
|
|
NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys)
|
|
|
NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu)
|
rs1588477287
|
|
NM_000093.5(COL5A1):c.861G>T (p.Gly287=)
|
|
|
NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser)
|
rs754640324
|
|
NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr)
|
|
|
NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys)
|
rs770173348
|
|
NM_000093.5(COL5A1):c.924+8C>G
|
rs2132635461
|
|
NM_000093.5(COL5A1):c.925-11T>G
|
|
|
NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln)
|
rs1410664123
|
|
NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala)
|
|
|
NM_000093.5(COL5A1):c.959T>A (p.Met320Lys)
|
|
|
NM_000093.5(COL5A1):c.960G>A (p.Met320Ile)
|
|
|
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
|
|
|
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr)
|
rs2100756894
|
|
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.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.1235G>A (p.Gly412Glu)
|
rs2100757756
|
|
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro)
|
rs1569721294
|
|
NM_000302.4(PLOD1):c.125G>A (p.Arg42His)
|
rs202116614
|
|
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
|
|
|
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala)
|
rs1645800221
|
|
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
|
|
|
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.1334T>G (p.Val445Gly)
|
rs922997919
|
|
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys)
|
rs1264798278
|
|
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val)
|
rs1645803161
|
|
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
|
|
|
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro)
|
rs2100758364
|
|
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.1463G>A (p.Arg488Gln)
|
|
|
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg)
|
rs1156431423
|
|
NM_000302.4(PLOD1):c.1470+5G>A
|
rs1553136223
|
|
NM_000302.4(PLOD1):c.1471-14C>T
|
rs2100759144
|
|
NM_000302.4(PLOD1):c.1471-9C>A
|
rs376476977
|
|
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.1490C>G (p.Thr497Ser)
|
|
|
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys)
|
rs1645810603
|
|
NM_000302.4(PLOD1):c.1511_1513del (p.His504del)
|
rs2100759209
|
|
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
|
|
|
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu)
|
rs1429074293
|
|
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser)
|
rs1324129456
|
|
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
|
|
|
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe)
|
rs377325169
|
|
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.1718T>C (p.Met573Thr)
|
rs1645823972
|
|
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp)
|
rs1331435501
|
|
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
|
|
|
NM_000302.4(PLOD1):c.1756-20T>G
|
rs1310114003
|
|
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.1769A>C (p.Gln590Pro)
|
rs2100764621
|
|
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala)
|
rs138106022
|
|
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
|
|
|
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
|
rs771350321
|
|
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
|
|
|
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
|
|
|
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln)
|
rs768638113
|
|
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met)
|
rs760314787
|
|
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala)
|
rs920188548
|
|
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.1902+3G>A
|
rs1645857795
|
|
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
|
|
|
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp)
|
rs1281801241
|
|
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
|
|
|
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.2082G>C (p.Lys694Asn)
|
rs1645891475
|
|
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.215C>T (p.Ala72Val)
|
rs2100743381
|
|
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
|
|
|
NM_000302.4(PLOD1):c.2164del (p.Val722fs)
|
rs1645892679
|
|
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.224G>A (p.Gly75Glu)
|
|
|
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe)
|
rs1306060482
|
|
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val)
|
rs1348207190
|
|
NM_000302.4(PLOD1):c.262C>G (p.His88Asp)
|
rs1645686634
|
|
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
|
|
|
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
|
|
|
NM_000302.4(PLOD1):c.302+3_302+6del
|
rs2100743549
|
|
NM_000302.4(PLOD1):c.302+5G>C
|
rs749607584
|
|
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln)
|
rs1553133902
|
|
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.332G>A (p.Arg111Gln)
|
|
|
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys)
|
rs1645691095
|
|
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
|
|
|
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.391C>T (p.Leu131Phe)
|
|
|
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
|
|
|
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.524A>G (p.Asp175Gly)
|
|
|
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly)
|
rs1569694008
|
|
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.539A>G (p.Gln180Arg)
|
|
|
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg)
|
rs2100746537
|
|
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp)
|
rs1645711960
|
|
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.579+3A>C
|
rs1645712158
|
|
NM_000302.4(PLOD1):c.579G>A (p.Arg193=)
|
rs1553134266
|
|
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
|
|
|
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)
|
rs199990859
|
|
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
|
|
|
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)
|
rs1645566854
|
|
NM_000302.4(PLOD1):c.644-19T>C
|
|
|
NM_000302.4(PLOD1):c.652G>A (p.Val218Met)
|
rs372534520
|
|
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.704C>A (p.Thr235Asn)
|
rs1645742510
|
|
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu)
|
rs1438879558
|
|
NM_000302.4(PLOD1):c.723T>G (p.His241Gln)
|
rs2100750549
|
|
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
|
|
|
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala)
|
rs774044489
|
|
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val)
|
rs2100751390
|
|
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)
|
rs1181531160
|
|
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.844-3C>G
|
rs2100752095
|
|
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp)
|
rs1394486748
|
|
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu)
|
rs143114026
|
|
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe)
|
rs1438781151
|
|
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.965T>A (p.Ile322Asn)
|
rs1553135172
|
|
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_000393.5(COL5A2):c.1005+5G>T
|
rs752557532
|
|
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.1045C>T (p.Pro349Ser)
|
|
|
NM_000393.5(COL5A2):c.1059+6T>C
|
|
|
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His)
|
|
|
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)
|
|
|
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu)
|
rs776312058
|
|
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala)
|
|
|
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+3A>G
|
|
|
NM_000393.5(COL5A2):c.1158G>A (p.Lys386=)
|
rs2105613322
|
|
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.118G>A (p.Ala40Thr)
|
rs1559108874
|
|
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala)
|
|
|
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val)
|
rs758092388
|
|
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu)
|
|
|
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly)
|
rs1686209467
|
|
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val)
|
|
|
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>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.1261G>T (p.Ala421Ser)
|
|
|
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys)
|
rs145850743
|
|
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
|
|
|
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.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.1402-3C>T
|
|
|
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.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+6del
|
rs763475800
|
|
NM_000393.5(COL5A2):c.1456-3C>G
|
|
|
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg)
|
|
|
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro)
|
rs149305351
|
|
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp)
|
|
|
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln)
|
|
|
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu)
|
|
|
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.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
NM_000393.5(COL5A2):c.1583G>A (p.Gly528Asp)
|
rs2105595796
|
|
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg)
|
rs1576503605
|
|
NM_000393.5(COL5A2):c.1617G>T (p.Lys539Asn)
|
|
|
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr)
|
|
|
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.1658C>A (p.Pro553His)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1677T>A (p.Asp559Glu)
|
|
|
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly)
|
|
|
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)
|
rs730880066
|
|
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro)
|
rs760408439
|
|
NM_000393.5(COL5A2):c.1716+13C>T
|
|
|
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+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.1787A>T (p.Asp596Val)
|
rs768939237
|
|
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys)
|
rs1060501906
|
|
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.1813A>G (p.Ile605Val)
|
rs2105590952
|
|
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>T (p.Gln610His)
|
|
|
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala)
|
rs1438423994
|
|
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)
|
|
|
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+3G>A
|
|
|
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu)
|
|
|
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr)
|
|
|
NM_000393.5(COL5A2):c.1923+3dup
|
rs1553515318
|
|
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser)
|
|
|
NM_000393.5(COL5A2):c.1924-17T>C
|
|
|
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys)
|
|
|
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.1978-6A>G
|
|
|
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val)
|
|
|
NM_000393.5(COL5A2):c.2031+6C>T
|
rs1686033754
|
|
NM_000393.5(COL5A2):c.2032-3T>C
|
|
|
NM_000393.5(COL5A2):c.2032-3T>G
|
|
|
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu)
|
rs1019506931
|
|
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.2092C>A (p.Pro698Thr)
|
rs146005731
|
|
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr)
|
|
|
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr)
|
|
|
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser)
|
|
|
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg)
|
|
|
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu)
|
rs1553514920
|
|
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro)
|
rs1559083259
|
|
NM_000393.5(COL5A2):c.2234G>T (p.Ser745Ile)
|
rs2105575470
|
|
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.2295A>G (p.Gly765=)
|
|
|
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg)
|
rs1357408674
|
|
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly)
|
rs1032000194
|
|
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.2393G>T (p.Gly798Val)
|
|
|
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.2446-13A>G
|
|
|
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)
|
|
|
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.2512G>A (p.Glu838Lys)
|
|
|
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
|
|
|
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+5A>T
|
rs371072906
|
|
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.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.259A>C (p.Thr87Pro)
|
rs1687234505
|
|
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu)
|
rs886039694
|
|
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+17_2661+20delinsCTTGAGTCAAGTTAA
|
|
|
NM_000393.5(COL5A2):c.2661T>C (p.His887=)
|
|
|
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp)
|
|
|
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg)
|
rs2105563064
|
|
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln)
|
|
|
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.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.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.2834G>A (p.Gly945Glu)
|
rs868695034
|
|
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala)
|
rs1027615025
|
|
NM_000393.5(COL5A2):c.2851G>A (p.Gly951Arg)
|
|
|
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)
|
rs754751410
|
|
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser)
|
rs957007431
|
|
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)
|
|
|
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr)
|
|
|
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val)
|
|
|
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg)
|
|
|
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser)
|
rs1576494351
|
|
NM_000393.5(COL5A2):c.2931+5G>T
|
|
|
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.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.3035C>A (p.Pro1012Gln)
|
|
|
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=)
|
rs751945982
|
|
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val)
|
|
|
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile)
|
|
|
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val)
|
rs1685736900
|
|
NM_000393.5(COL5A2):c.3084A>C (p.Lys1028Asn)
|
rs774936724
|
|
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
|
rs1685735868
|
|
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+5_3147+16del
|
|
|
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser)
|
rs2153507740
|
|
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)
|
|
|
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.3214G>A (p.Asp1072Asn)
|
|
|
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp)
|
|
|
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val)
|
|
|
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp)
|
rs1559076883
|
|
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr)
|
|
|
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.3309+6G>A
|
rs775681859
|
|
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.336+3A>T
|
rs762140704
|
|
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg)
|
|
|
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.3428G>A (p.Gly1143Asp)
|
rs1685595072
|
|
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn)
|
rs2105690115
|
|
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala)
|
|
|
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu)
|
rs863223508
|
|
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
|
|
|
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His)
|
rs2153506953
|
|
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln)
|
rs1060501905
|
|
NM_000393.5(COL5A2):c.3538C>T (p.Pro1180Ser)
|
|
|
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg)
|
|
|
NM_000393.5(COL5A2):c.3599G>T (p.Gly1200Val)
|
rs1685564185
|
|
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.3634-3T>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.3656C>A (p.Pro1219Gln)
|
|
|
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala)
|
|
|
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr)
|
|
|
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro)
|
rs1263127952
|
|
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val)
|
rs1685513453
|
|
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg)
|
|
|
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.3766G>A (p.Ala1256Thr)
|
|
|
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu)
|
|
|
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.3847C>T (p.Arg1283Cys)
|
|
|
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val)
|
rs1251846979
|
|
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val)
|
|
|
NM_000393.5(COL5A2):c.3926-3T>C
|
rs1685452266
|
|
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp)
|
rs863223497
|
|
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu)
|
|
|
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys)
|
rs2153506166
|
|
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu)
|
rs1685452114
|
|
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro)
|
|
|
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.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.4113+3A>G
|
rs1685448298
|
|
NM_000393.5(COL5A2):c.4114-20A>G
|
rs1057523545
|
|
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr)
|
rs1685418656
|
|
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg)
|
|
|
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>T (p.Thr1388Ile)
|
rs771415085
|
|
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
|
|
|
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe)
|
|
|
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.4207T>A (p.Tyr1403Asn)
|
|
|
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile)
|
|
|
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
|
|
|
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)
|
|
|
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly)
|
rs141777954
|
|
NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe)
|
|
|
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.4400A>G (p.Gln1467Arg)
|
|
|
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly)
|
rs2153505892
|
|
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.456+3A>C
|
|
|
NM_000393.5(COL5A2):c.457-12C>T
|
rs1387666560
|
|
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.534T>A (p.His178Gln)
|
|
|
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe)
|
rs2105831569
|
|
NM_000393.5(COL5A2):c.567+3G>A
|
|
|
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.622G>A (p.Val208Ile)
|
rs2105658300
|
|
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu)
|
rs1686718032
|
|
NM_000393.5(COL5A2):c.645+5G>A
|
|
|
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.690A>G (p.Gln230=)
|
|
|
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.798+6C>T
|
|
|
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg)
|
|
|
NM_000393.5(COL5A2):c.853-3C>G
|
|
|
NM_000393.5(COL5A2):c.860G>A (p.Arg287His)
|
|
|
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser)
|
|
|
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser)
|
rs1686522348
|
|
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.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.955T>C (p.Ser319Pro)
|
rs1060501908
|
|
NM_000393.5(COL5A2):c.967G>C (p.Ala323Pro)
|
rs2105632778
|
|
NM_000393.5(COL5A2):c.98-22_98-18del
|
|
|
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
|
|
|
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.1051C>T (p.Gln351Ter)
|
|
|
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=)
|
rs1163501092
|
|
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro)
|
rs2096021765
|
|
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
|
|
|
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu)
|
rs777112793
|
|
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.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.255_269del (p.Leu87_Leu91del)
|
rs2095992049
|
|
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val)
|
rs754729494
|
|
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala)
|
rs2153291853
|
|
NM_001128225.3(SLC39A13):c.301+5G>A
|
rs1351664483
|
|
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.377dup (p.Pro127fs)
|
|
|
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala)
|
rs148165667
|
|
NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)
|
|
|
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile)
|
rs1555136368
|
|
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+3G>A
|
rs2153299338
|
|
NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)
|
|
|
NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)
|
|
|
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del)
|
rs2153299658
|
|
NM_001128225.3(SLC39A13):c.786+5G>A
|
rs1331180727
|
|
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.849A>T (p.Gln283His)
|
rs1468079148
|
|
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.919+5G>A
|
|
|
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.1048G>A (p.Val350Ile)
|
|
|
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn)
|
rs1562297952
|
|
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.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.1112T>G (p.Met371Arg)
|
|
|
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.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.1168A>C (p.Ser390Arg)
|
|
|
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val)
|
rs1032545730
|
|
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.1223A>C (p.Lys408Thr)
|
rs1325717704
|
|
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
|
|
|
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.1292G>A (p.Cys431Tyr)
|
|
|
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu)
|
rs1769450841
|
|
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met)
|
rs1769449076
|
|
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
|
|
|
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.1391A>G (p.Glu464Gly)
|
|
|
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val)
|
rs2149466346
|
|
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
|
|
|
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
|
|
|
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
|
|
|
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.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.1543G>A (p.Gly515Arg)
|
rs2149466076
|
|
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
|
|
|
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
|
|
|
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.1569G>T (p.Met523Ile)
|
|
|
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
|
|
|
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn)
|
rs2149465941
|
|
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
|
|
|
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.1649A>G (p.Asp550Gly)
|
rs2149465853
|
|
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.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.1697del (p.Asn566fs)
|
|
|
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.173C>G (p.Thr58Arg)
|
|
|
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
|
|
|
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
|
|
|
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.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.185C>G (p.Thr62Arg)
|
rs779409298
|
|
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+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.1892-6_1892-5insG
|
rs752652515
|
|
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.1898T>C (p.Val633Ala)
|
|
|
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
|
|
|
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.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
|
|
|
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu)
|
rs2149479257
|
|
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.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.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.2057T>C (p.Val686Ala)
|
|
|
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
|
|
|
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
|
|
|
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
|
|
|
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.2147A>C (p.Glu716Ala)
|
|
|
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro)
|
rs1562315490
|
|
NM_004370.6(COL12A1):c.2164+6A>G
|
rs746467248
|
|
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.2213G>C (p.Ser738Thr)
|
rs750973541
|
|
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys)
|
rs2149457038
|
|
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter)
|
rs1554186583
|
|
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
|
|
|
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.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.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.236C>A (p.Thr79Asn)
|
|
|
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
|
|
|
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.2436A>C (p.Glu812Asp)
|
rs1769033719
|
|
NM_004370.6(COL12A1):c.2437+6G>A
|
rs1769033413
|
|
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.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.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.2546C>A (p.Thr849Asn)
|
rs559028883
|
|
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.2605G>T (p.Val869Leu)
|
rs764066205
|
|
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
|
|
|
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
|
|
|
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.2694A>T (p.Glu898Asp)
|
rs1768851120
|
|
NM_004370.6(COL12A1):c.2711-5T>G
|
|
|
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.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.2794G>A (p.Val932Ile)
|
rs1768259480
|
|
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
|
|
|
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
|
|
|
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
|
|
|
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.2833G>A (p.Asp945Asn)
|
|
|
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu)
|
rs1253194188
|
|
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.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.2970T>A (p.Asp990Glu)
|
|
|
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=)
|
rs1768247192
|
|
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.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.3067G>A (p.Val1023Ile)
|
|
|
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.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.3160C>T (p.Arg1054Ter)
|
rs868543538
|
|
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
|
|
|
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
|
|
|
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys)
|
rs2149424189
|
|
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
|
|
|
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
|
|
|
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
|
|
|
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
|
|
|
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.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.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+4A>T
|
rs1769967046
|
|
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met)
|
rs2149423183
|
|
NM_004370.6(COL12A1):c.335-1G>C
|
rs779800232
|
|
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys)
|
rs1582145759
|
|
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.3407G>A (p.Gly1136Glu)
|
|
|
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
|
|
|
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
|
|
|
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
|
|
|
NM_004370.6(COL12A1):c.3444-6T>G
|
|
|
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
|
|
|
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile)
|
rs759294983
|
|
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.3529C>A (p.Leu1177Ile)
|
|
|
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.3562T>C (p.Ser1188Pro)
|
rs1190415160
|
|
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
|
|
|
NM_004370.6(COL12A1):c.3565+1G>A
|
|
|
NM_004370.6(COL12A1):c.3566-8C>G
|
rs201709757
|
|
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
|
|
|
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln)
|
rs775382202
|
|
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val)
|
rs1449618151
|
|
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
|
|
|
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
|
|
|
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr)
|
rs2149417585
|
|
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.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.3774C>A (p.Asp1258Glu)
|
rs375043994
|
|
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu)
|
rs375043994
|
|
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.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+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.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.3916C>G (p.Leu1306Val)
|
|
|
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
|
|
|
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+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.3943G>T (p.Asp1315Tyr)
|
|
|
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
|
|
|
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
|
|
|
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val)
|
rs557573017
|
|
NM_004370.6(COL12A1):c.4000+4C>T
|
rs375772555
|
|
NM_004370.6(COL12A1):c.4001-11C>A
|
|
|
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
|
|
|
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe)
|
rs1554182853
|
|
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
|
|
|
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.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.4070A>G (p.Asn1357Ser)
|
rs1562230954
|
|
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
|
|
|
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+3A>G
|
|
|
NM_004370.6(COL12A1):c.4147+4A>T
|
|
|
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.4177A>G (p.Ile1393Val)
|
rs1582133150
|
|
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser)
|
rs1767312990
|
|
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
|
|
|
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.4271G>A (p.Gly1424Glu)
|
|
|
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser)
|
rs779038394
|
|
NM_004370.6(COL12A1):c.4287+4A>T
|
rs1767305838
|
|
NM_004370.6(COL12A1):c.4288-14A>G
|
|
|
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
|
|
|
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.4337C>A (p.Pro1446His)
|
|
|
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
|
|
|
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.4387A>T (p.Ser1463Cys)
|
rs897954123
|
|
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
|
|
|
NM_004370.6(COL12A1):c.4417+4A>G
|
rs2149409130
|
|
NM_004370.6(COL12A1):c.4417+5G>A
|
|
|
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
|
|
|
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.4447T>C (p.Tyr1483His)
|
|
|
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
|
|
|
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.4520A>G (p.Tyr1507Cys)
|
rs1767180643
|
|
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
|
|
|
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
|
|
|
NM_004370.6(COL12A1):c.4560+8A>G
|
|
|
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu)
|
rs556742432
|
|
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
|
|
|
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.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.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.4620G>T (p.Glu1540Asp)
|
rs367865394
|
|
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
|
|
|
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
|
|
|
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala)
|
rs1562217199
|
|
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+5G>A
|
rs1767120188
|
|
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.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.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.4810G>A (p.Glu1604Lys)
|
|
|
NM_004370.6(COL12A1):c.4827+3A>G
|
|
|
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
|
|
|
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro)
|
rs750511139
|
|
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.4913A>C (p.His1638Pro)
|
|
|
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
|
|
|
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
|
|
|
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.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.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.5011T>C (p.Phe1671Leu)
|
rs1766757762
|
|
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.5045T>C (p.Val1682Ala)
|
|
|
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+6T>A
|
|
|
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.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.5215G>A (p.Gly1739Ser)
|
|
|
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser)
|
rs530680231
|
|
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
|
|
|
NM_004370.6(COL12A1):c.5231-9_5231-8del
|
|
|
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
|
|
|
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.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.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.5374G>A (p.Gly1792Arg)
|
|
|
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+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>G (p.Ile1801Met)
|
|
|
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu)
|
rs754812998
|
|
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.5458A>C (p.Thr1820Pro)
|
|
|
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
|
|
|
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
|
|
|
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly)
|
rs1419443025
|
|
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly)
|
rs775456254
|
|
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.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.5572A>T (p.Ser1858Cys)
|
|
|
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.5603A>T (p.Glu1868Val)
|
rs1370422060
|
|
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly)
|
rs773807635
|
|
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
|
|
|
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.5664+3A>G
|
rs2149387981
|
|
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
|
|
|
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
|
|
|
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.5713C>T (p.Pro1905Ser)
|
rs1766408982
|
|
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
|
|
|
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.5768G>C (p.Gly1923Ala)
|
|
|
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.5794T>C (p.Leu1932=)
|
|
|
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.5827T>C (p.Tyr1943His)
|
|
|
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile)
|
rs2149385416
|
|
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
|
|
|
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly)
|
rs1766324604
|
|
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.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.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.5939T>A (p.Ile1980Lys)
|
|
|
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del)
|
rs1766274789
|
|
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
|
|
|
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
|
|
|
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
|
|
|
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
|
|
|
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys)
|
rs1400789071
|
|
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
|
|
|
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys)
|
rs1766270191
|
|
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
|
|
|
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.6064A>T (p.Thr2022Ser)
|
rs780638272
|
|
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met)
|
rs1766265495
|
|
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
|
|
|
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
|
|
|
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
|
|
|
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
|
|
|
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg)
|
rs569212577
|
|
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu)
|
rs200777154
|
|
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
|
|
|
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
|
|
|
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr)
|
rs1766227819
|
|
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.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.629T>C (p.Ile210Thr)
|
|
|
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.6341-9T>A
|
rs1562169801
|
|
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg)
|
rs1766019017
|
|
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu)
|
rs1769818108
|
|
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.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+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.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.6559C>A (p.Gln2187Lys)
|
|
|
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)
|
rs1765951451
|
|
NM_004370.6(COL12A1):c.658+6T>C
|
|
|
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
|
|
|
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
|
|
|
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
|
|
|
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.6724+6T>C
|
|
|
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
|
|
|
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)
|
rs746250737
|
|
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg)
|
rs2149373796
|
|
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.6764C>T (p.Thr2255Ile)
|
|
|
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr)
|
rs2149373719
|
|
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.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.6871A>C (p.Thr2291Pro)
|
|
|
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.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.6946G>C (p.Val2316Leu)
|
rs1765839616
|
|
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.6983C>T (p.Thr2328Ile)
|
|
|
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His)
|
rs1765722908
|
|
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr)
|
rs1400495680
|
|
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
|
|
|
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.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.7086+4A>G
|
|
|
NM_004370.6(COL12A1):c.7087-3C>T
|
rs1769248501
|
|
NM_004370.6(COL12A1):c.7087-5T>G
|
rs1410734553
|
|
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
|
|
|
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.7175A>G (p.Gln2392Arg)
|
|
|
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
|
|
|
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser)
|
rs2149366659
|
|
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+3dup
|
|
|
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.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.7264A>G (p.Arg2422Gly)
|
rs1769229174
|
|
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His)
|
rs1769228699
|
|
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
|
|
|
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.7303G>A (p.Gly2435Ser)
|
rs2149366214
|
|
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
|
|
|
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val)
|
rs1224729276
|
|
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
|
|
|
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile)
|
rs2149363695
|
|
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
|
|
|
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
|
|
|
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
|
|
|
NM_004370.6(COL12A1):c.74-2A>T
|
|
|
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.7489A>G (p.Ile2497Val)
|
|
|
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+6T>C
|
rs2149363457
|
|
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+5G>A
|
|
|
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.7613A>C (p.Gln2538Pro)
|
|
|
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
|
|
|
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala)
|
rs942074618
|
|
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
|
|
|
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
|
|
|
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)
|
rs1302611725
|
|
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
|
|
|
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.7756C>G (p.Leu2586Val)
|
rs375113182
|
|
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.7819C>G (p.Gln2607Glu)
|
rs1428757896
|
|
NM_004370.6(COL12A1):c.7841-3C>T
|
|
|
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu)
|
rs1194345062
|
|
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
|
|
|
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.7883G>C (p.Gly2628Ala)
|
rs1582069073
|
|
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
|
|
|
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.7950+5A>T
|
rs771300269
|
|
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.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.8022C>G (p.Ile2674Met)
|
rs536679905
|
|
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.8098G>A (p.Ala2700Thr)
|
|
|
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
|
|
|
NM_004370.6(COL12A1):c.8100+4A>T
|
rs2149352934
|
|
NM_004370.6(COL12A1):c.8100+5G>T
|
|
|
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr)
|
rs1768551206
|
|
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
|
|
|
NM_004370.6(COL12A1):c.8178+6T>C
|
|
|
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)
|
rs1768547356
|
|
NM_004370.6(COL12A1):c.8179-17T>G
|
|
|
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.823+4G>A
|
|
|
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
|
|
|
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
|
|
|
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
|
|
|
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.8263G>T (p.Ala2755Ser)
|
|
|
NM_004370.6(COL12A1):c.8266-6T>G
|
|
|
NM_004370.6(COL12A1):c.8266-8T>A
|
|
|
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.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.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.8360C>T (p.Pro2787Leu)
|
|
|
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.8368C>T (p.Pro2790Ser)
|
rs1582050849
|
|
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp)
|
rs1768358751
|
|
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.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+2dup
|
|
|
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys)
|
rs2149343509
|
|
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
|
|
|
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
|
|
|
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.8504T>G (p.Met2835Arg)
|
|
|
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
|
|
|
NM_004370.6(COL12A1):c.8524-3T>G
|
|
|
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
|
|
|
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
|
|
|
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg)
|
rs574147225
|
|
NM_004370.6(COL12A1):c.8577+4A>G
|
rs1562105188
|
|
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=)
|
rs1768087709
|
|
NM_004370.6(COL12A1):c.8578-6T>G
|
|
|
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.8611A>C (p.Ser2871Arg)
|
|
|
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+6C>T
|
rs1037107431
|
|
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=)
|
rs900917198
|
|
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
|
|
|
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly)
|
rs1767765917
|
|
NM_004370.6(COL12A1):c.8685+3A>G
|
|
|
NM_004370.6(COL12A1):c.8685+4T>C
|
|
|
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
|
|
|
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr)
|
rs1319038184
|
|
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
|
|
|
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg)
|
rs1562093184
|
|
NM_004370.6(COL12A1):c.8752+5A>C
|
|
|
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.8783A>G (p.Asn2928Ser)
|
|
|
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
|
|
|
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu)
|
rs752206319
|
|
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
|
|
|
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
|
|
|
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.8875C>T (p.Pro2959Ser)
|
rs1562090566
|
|
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly)
|
rs1769748525
|
|
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
|
|
|
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.8922G>C (p.Gln2974His)
|
|
|
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr)
|
rs1310755474
|
|
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr)
|
rs1404705545
|
|
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
|
|
|
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
|
|
|
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.899C>T (p.Ala300Val)
|
rs763589676
|
|
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly)
|
rs1582219536
|
|
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
|
|
|
NM_004370.6(COL12A1):c.9010+4G>C
|
rs2149325295
|
|
NM_004370.6(COL12A1):c.9010+5G>A
|
|
|
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.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.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.9082C>T (p.Arg3028Cys)
|
rs1767569916
|
|
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
|
|
|
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
|
|
|
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
|
|
|
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
|
|
|
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.9146G>A (p.Cys3049Tyr)
|
rs1268620135
|
|
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
|
|
|
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
|
|
|
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
|
|
|
NM_004370.6(COL12A1):c.9181+4C>G
|
|
|
NM_004370.6(COL12A1):c.9181+5G>A
|
|
|
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
|
|
|
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
|
|
|
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.993A>C (p.Glu331Asp)
|
|
|
NM_004370.6(COL12A1):c.997+2T>C
|
|
|
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.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.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.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.242_243del (p.Pro81fs)
|
|
|
NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)
|
|
|
NM_007255.3(B4GALT7):c.258A>T (p.Glu86Asp)
|
rs759226446
|
|
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.283C>G (p.Leu95Val)
|
rs926913315
|
|
NM_007255.3(B4GALT7):c.29A>T (p.Gln10Leu)
|
|
|
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.325del (p.Leu109fs)
|
rs2127511689
|
|
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.364A>C (p.Lys122Gln)
|
rs201281389
|
|
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.413+3A>G
|
|
|
NM_007255.3(B4GALT7):c.414-2A>G
|
|
|
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.491T>C (p.Val164Ala)
|
rs1281774679
|
|
NM_007255.3(B4GALT7):c.50+1G>A
|
|
|
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.511G>A (p.Glu171Lys)
|
|
|
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.563C>G (p.Pro188Arg)
|
rs149484064
|
|
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.639+6G>T
|
|
|
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.688G>A (p.Glu230Lys)
|
rs751946151
|
|
NM_007255.3(B4GALT7):c.723+3G>A
|
|
|
NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)
|
|
|
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.781C>T (p.Pro261Ser)
|
rs1768098034
|
|
NM_007255.3(B4GALT7):c.7C>T (p.Pro3Ser)
|
rs749515076
|
|
NM_007255.3(B4GALT7):c.844G>A (p.Asp282Asn)
|
rs1768115670
|
|
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.889C>T (p.Arg297Cys)
|
rs749289544
|
|
NM_007255.3(B4GALT7):c.89C>T (p.Ser30Phe)
|
rs1433445414
|
|
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.926del (p.Val309fs)
|
|
|
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.952A>G (p.Lys318Glu)
|
rs2127514659
|
|
NM_007255.3(B4GALT7):c.962C>T (p.Thr321Ile)
|
rs773712777
|
|
NM_013352.4(DSE):c.101C>G (p.Pro34Arg)
|
rs35548455
|
|
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
|
|
|
NM_013352.4(DSE):c.110A>G (p.Asn37Ser)
|
rs371802983
|
|
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr)
|
rs2115093579
|
|
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
|
|
|
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
|
|
|
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.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.1488_1506del (p.Pro497fs)
|
rs2115094515
|
|
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn)
|
rs2115094625
|
|
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
|
|
|
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>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.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.1916A>T (p.Tyr639Phe)
|
rs1784155007
|
|
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
|
|
|
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.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.2213A>G (p.Tyr738Cys)
|
|
|
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.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.2500A>G (p.Lys834Glu)
|
|
|
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
|
|
|
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.2635C>G (p.Arg879Gly)
|
rs113277624
|
|
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp)
|
rs113277624
|
|
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
|
|
|
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.2812G>T (p.Val938Phe)
|
|
|
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.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.364G>A (p.Ala122Thr)
|
rs1781474657
|
|
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
|
|
|
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.701A>G (p.Lys234Arg)
|
|
|
NM_013352.4(DSE):c.718A>G (p.Met240Val)
|
|
|
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
|
|
|
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_014244.5(ADAMTS2):c.1049A>G (p.Gln350Arg)
|
rs2113265082
|
|
NM_014244.5(ADAMTS2):c.1087G>A (p.Ala363Thr)
|
|
|
NM_014244.5(ADAMTS2):c.1102C>T (p.Arg368Trp)
|
rs371384169
|
|
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser)
|
rs886060494
|
|
NM_014244.5(ADAMTS2):c.1132+6C>T
|
|
|
NM_014244.5(ADAMTS2):c.1136A>T (p.Tyr379Phe)
|
|
|
NM_014244.5(ADAMTS2):c.113G>A (p.Arg38Lys)
|
rs2127463853
|
|
NM_014244.5(ADAMTS2):c.1169G>A (p.Arg390His)
|
rs768623482
|
|
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.1202C>T (p.Ser401Phe)
|
|
|
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.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.1319A>G (p.Gln440Arg)
|
|
|
NM_014244.5(ADAMTS2):c.1334G>A (p.Arg445His)
|
|
|
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.1373G>A (p.Arg458His)
|
rs768230986
|
|
NM_014244.5(ADAMTS2):c.1383-3C>A
|
rs1554126056
|
|
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=)
|
rs1181728258
|
|
NM_014244.5(ADAMTS2):c.139+6T>A
|
|
|
NM_014244.5(ADAMTS2):c.1407C>A (p.Asp469Glu)
|
|
|
NM_014244.5(ADAMTS2):c.1477C>T (p.Arg493Cys)
|
rs779902229
|
|
NM_014244.5(ADAMTS2):c.148C>G (p.Leu50Val)
|
|
|
NM_014244.5(ADAMTS2):c.1516-3C>T
|
rs1763376048
|
|
NM_014244.5(ADAMTS2):c.1619C>T (p.Ala540Val)
|
|
|
NM_014244.5(ADAMTS2):c.1622C>T (p.Pro541Leu)
|
|
|
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp)
|
rs1581300233
|
|
NM_014244.5(ADAMTS2):c.1679G>A (p.Arg560Gln)
|
|
|
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu)
|
rs368700721
|
|
NM_014244.5(ADAMTS2):c.1696G>A (p.Ala566Thr)
|
|
|
NM_014244.5(ADAMTS2):c.1712G>A (p.Gly571Asp)
|
|
|
NM_014244.5(ADAMTS2):c.1761G>C (p.Gln587His)
|
|
|
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.1783A>G (p.Asn595Asp)
|
rs2113218874
|
|
NM_014244.5(ADAMTS2):c.1825C>T (p.Leu609Phe)
|
rs757961083
|
|
NM_014244.5(ADAMTS2):c.1835G>A (p.Arg612His)
|
rs1763093799
|
|
NM_014244.5(ADAMTS2):c.1849G>A (p.Asp617Asn)
|
|
|
NM_014244.5(ADAMTS2):c.1882C>T (p.Arg628Cys)
|
rs984794583
|
|
NM_014244.5(ADAMTS2):c.1904A>G (p.Glu635Gly)
|
rs1763091963
|
|
NM_014244.5(ADAMTS2):c.1906C>T (p.His636Tyr)
|
|
|
NM_014244.5(ADAMTS2):c.1928_1929delinsAC (p.Trp643Tyr)
|
rs1763091339
|
|
NM_014244.5(ADAMTS2):c.1945C>T (p.Arg649Trp)
|
|
|
NM_014244.5(ADAMTS2):c.1951+3G>T
|
rs1181830676
|
|
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg)
|
rs745588970
|
|
NM_014244.5(ADAMTS2):c.2017A>G (p.Met673Val)
|
|
|
NM_014244.5(ADAMTS2):c.2018T>C (p.Met673Thr)
|
|
|
NM_014244.5(ADAMTS2):c.2047A>G (p.Lys683Glu)
|
|
|
NM_014244.5(ADAMTS2):c.2052C>G (p.Asp684Glu)
|
|
|
NM_014244.5(ADAMTS2):c.2054C>T (p.Ala685Val)
|
|
|
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.2140G>A (p.Val714Met)
|
|
|
NM_014244.5(ADAMTS2):c.2146G>C (p.Gly716Arg)
|
|
|
NM_014244.5(ADAMTS2):c.215C>T (p.Ser72Phe)
|
|
|
NM_014244.5(ADAMTS2):c.2192G>A (p.Arg731Gln)
|
|
|
NM_014244.5(ADAMTS2):c.2198C>G (p.Pro733Arg)
|
rs1581143324
|
|
NM_014244.5(ADAMTS2):c.2208T>C (p.His736=)
|
rs2113206149
|
|
NM_014244.5(ADAMTS2):c.2210G>T (p.Gly737Val)
|
|
|
NM_014244.5(ADAMTS2):c.2215A>G (p.Ile739Val)
|
rs762128833
|
|
NM_014244.5(ADAMTS2):c.2218A>G (p.Lys740Glu)
|
rs946826671
|
|
NM_014244.5(ADAMTS2):c.2242G>A (p.Ala748Thr)
|
|
|
NM_014244.5(ADAMTS2):c.2258T>C (p.Ile753Thr)
|
|
|
NM_014244.5(ADAMTS2):c.22G>A (p.Ala8Thr)
|
rs1267078082
|
|
NM_014244.5(ADAMTS2):c.236C>T (p.Thr79Met)
|
rs1054586627
|
|
NM_014244.5(ADAMTS2):c.2377G>A (p.Val793Met)
|
|
|
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys)
|
rs747447840
|
|
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.2440_2445del (p.Gly814_Thr815del)
|
|
|
NM_014244.5(ADAMTS2):c.2450C>G (p.Thr817Ser)
|
|
|
NM_014244.5(ADAMTS2):c.2452G>A (p.Val818Ile)
|
|
|
NM_014244.5(ADAMTS2):c.2465C>T (p.Pro822Leu)
|
rs777107579
|
|
NM_014244.5(ADAMTS2):c.2477C>T (p.Thr826Ile)
|
|
|
NM_014244.5(ADAMTS2):c.2506A>C (p.Ile836Leu)
|
|
|
NM_014244.5(ADAMTS2):c.2530GAC[1] (p.Asp845del)
|
rs779695756
|
|
NM_014244.5(ADAMTS2):c.2569G>A (p.Glu857Lys)
|
|
|
NM_014244.5(ADAMTS2):c.2591C>T (p.Ser864Phe)
|
|
|
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val)
|
rs1338541722
|
|
NM_014244.5(ADAMTS2):c.2626T>C (p.Phe876Leu)
|
|
|
NM_014244.5(ADAMTS2):c.2644C>T (p.Arg882Cys)
|
|
|
NM_014244.5(ADAMTS2):c.2666T>C (p.Met889Thr)
|
|
|
NM_014244.5(ADAMTS2):c.268G>A (p.Ala90Thr)
|
|
|
NM_014244.5(ADAMTS2):c.2750+3G>A
|
|
|
NM_014244.5(ADAMTS2):c.2773C>A (p.Pro925Thr)
|
|
|
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn)
|
rs1193602528
|
|
NM_014244.5(ADAMTS2):c.2821C>A (p.Arg941Ser)
|
|
|
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.2885C>T (p.Ala962Val)
|
|
|
NM_014244.5(ADAMTS2):c.2888G>A (p.Arg963Gln)
|
|
|
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His)
|
rs775213299
|
|
NM_014244.5(ADAMTS2):c.292C>G (p.Pro98Ala)
|
rs2127463418
|
|
NM_014244.5(ADAMTS2):c.293C>G (p.Pro98Arg)
|
|
|
NM_014244.5(ADAMTS2):c.2944G>A (p.Gly982Arg)
|
|
|
NM_014244.5(ADAMTS2):c.2959-7C>G
|
rs748783596
|
|
NM_014244.5(ADAMTS2):c.2965G>C (p.Val989Leu)
|
rs2113181846
|
|
NM_014244.5(ADAMTS2):c.3013G>A (p.Ala1005Thr)
|
|
|
NM_014244.5(ADAMTS2):c.3019G>A (p.Asp1007Asn)
|
|
|
NM_014244.5(ADAMTS2):c.3046C>T (p.Arg1016Cys)
|
|
|
NM_014244.5(ADAMTS2):c.3047_3048delinsTC (p.Arg1016Leu)
|
rs1762785033
|
|
NM_014244.5(ADAMTS2):c.3062G>A (p.Arg1021Lys)
|
rs2113181448
|
|
NM_014244.5(ADAMTS2):c.3080C>T (p.Pro1027Leu)
|
rs1340671554
|
|
NM_014244.5(ADAMTS2):c.3097T>C (p.Ser1033Pro)
|
|
|
NM_014244.5(ADAMTS2):c.310G>A (p.Glu104Lys)
|
rs1757859981
|
|
NM_014244.5(ADAMTS2):c.3145G>A (p.Asp1049Asn)
|
|
|
NM_014244.5(ADAMTS2):c.314C>G (p.Pro105Arg)
|
rs1757859721
|
|
NM_014244.5(ADAMTS2):c.3158C>A (p.Pro1053His)
|
|
|
NM_014244.5(ADAMTS2):c.3161_3163del (p.Ile1054del)
|
|
|
NM_014244.5(ADAMTS2):c.3178+5C>T
|
|
|
NM_014244.5(ADAMTS2):c.3219G>A (p.Met1073Ile)
|
|
|
NM_014244.5(ADAMTS2):c.3304G>A (p.Val1102Met)
|
|
|
NM_014244.5(ADAMTS2):c.3305T>G (p.Val1102Gly)
|
|
|
NM_014244.5(ADAMTS2):c.3319G>C (p.Glu1107Gln)
|
rs775059458
|
|
NM_014244.5(ADAMTS2):c.3323C>T (p.Pro1108Leu)
|
|
|
NM_014244.5(ADAMTS2):c.3343G>C (p.Asp1115His)
|
|
|
NM_014244.5(ADAMTS2):c.3352G>C (p.Val1118Leu)
|
|
|
NM_014244.5(ADAMTS2):c.3358A>G (p.Met1120Val)
|
rs2113161569
|
|
NM_014244.5(ADAMTS2):c.335A>G (p.Asn112Ser)
|
|
|
NM_014244.5(ADAMTS2):c.3391G>A (p.Glu1131Lys)
|
rs2113161430
|
|
NM_014244.5(ADAMTS2):c.3401C>T (p.Pro1134Leu)
|
|
|
NM_014244.5(ADAMTS2):c.3427C>A (p.Pro1143Thr)
|
rs2113161332
|
|
NM_014244.5(ADAMTS2):c.3455C>T (p.Thr1152Ile)
|
|
|
NM_014244.5(ADAMTS2):c.346T>G (p.Phe116Val)
|
rs1232899709
|
|
NM_014244.5(ADAMTS2):c.3481G>A (p.Val1161Ile)
|
|
|
NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser)
|
rs776115866
|
|
NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro)
|
rs141541318
|
|
NM_014244.5(ADAMTS2):c.3529_3530delinsTT (p.Pro1177Phe)
|
rs2113161027
|
|
NM_014244.5(ADAMTS2):c.3530C>T (p.Pro1177Leu)
|
|
|
NM_014244.5(ADAMTS2):c.3548G>A (p.Arg1183Gln)
|
|
|
NM_014244.5(ADAMTS2):c.3575A>G (p.Asn1192Ser)
|
rs2113160848
|
|
NM_014244.5(ADAMTS2):c.3590A>G (p.Glu1197Gly)
|
rs1561761828
|
|
NM_014244.5(ADAMTS2):c.3603G>T (p.Glu1201Asp)
|
rs1762614743
|
|
NM_014244.5(ADAMTS2):c.365T>G (p.Leu122Arg)
|
rs1757857775
|
|
NM_014244.5(ADAMTS2):c.368G>A (p.Arg123Gln)
|
|
|
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp)
|
rs535594659
|
|
NM_014244.5(ADAMTS2):c.377C>A (p.Pro126His)
|
rs1247479642
|
|
NM_014244.5(ADAMTS2):c.41C>G (p.Pro14Arg)
|
rs2127463924
|
|
NM_014244.5(ADAMTS2):c.41C>T (p.Pro14Leu)
|
rs2127463924
|
|
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.449C>G (p.Pro150Arg)
|
|
|
NM_014244.5(ADAMTS2):c.458G>A (p.Gly153Glu)
|
rs2127463330
|
|
NM_014244.5(ADAMTS2):c.461G>A (p.Ser154Asn)
|
|
|
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.487G>C (p.Gly163Arg)
|
|
|
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup)
|
rs1365580904
|
|
NM_014244.5(ADAMTS2):c.526G>A (p.Asp176Asn)
|
rs1207222735
|
|
NM_014244.5(ADAMTS2):c.527A>G (p.Asp176Gly)
|
|
|
NM_014244.5(ADAMTS2):c.548G>A (p.Arg183Gln)
|
|
|
NM_014244.5(ADAMTS2):c.581T>C (p.Leu194Ser)
|
|
|
NM_014244.5(ADAMTS2):c.637C>G (p.Arg213Gly)
|
|
|
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.65_66insTCT (p.Leu23_Pro24insLeu)
|
|
|
NM_014244.5(ADAMTS2):c.661C>T (p.Leu221Phe)
|
|
|
NM_014244.5(ADAMTS2):c.664G>A (p.Gly222Arg)
|
|
|
NM_014244.5(ADAMTS2):c.670C>T (p.Pro224Ser)
|
|
|
NM_014244.5(ADAMTS2):c.685A>G (p.Thr229Ala)
|
|
|
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.700G>A (p.Asp234Asn)
|
|
|
NM_014244.5(ADAMTS2):c.712A>C (p.Ser238Arg)
|
|
|
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.722G>T (p.Arg241Leu)
|
rs11750821
|
|
NM_014244.5(ADAMTS2):c.725C>G (p.Ala242Gly)
|
|
|
NM_014244.5(ADAMTS2):c.732_733delinsTA (p.Val245Ile)
|
|
|
NM_014244.5(ADAMTS2):c.758C>T (p.Ser253Leu)
|
rs750197805
|
|
NM_014244.5(ADAMTS2):c.767G>A (p.Arg256Lys)
|
rs1764733855
|
|
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.789C>G (p.Asp263Glu)
|
rs144235544
|
|
NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup)
|
rs1757908540
|
|
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.80TCCTGCCGCCGCCGCCGCCGC[3] (p.Pro33_Pro34insLeuLeuProProProProProLeuLeuProProProProPro)
|
|
|
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.82_102dup (p.Pro34_Ala35insLeuProProProProProPro)
|
|
|
NM_014244.5(ADAMTS2):c.832G>A (p.Val278Met)
|
rs1764731152
|
|
NM_014244.5(ADAMTS2):c.836T>C (p.Val279Ala)
|
|
|
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.858_859delinsTA (p.Val287Ile)
|
|
|
NM_014244.5(ADAMTS2):c.863A>C (p.Gln288Pro)
|
rs368893222
|
|
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.950G>A (p.Arg317Gln)
|
|
|
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu)
|
rs886060498
|
|
NM_014244.5(ADAMTS2):c.98C>A (p.Pro33Gln)
|
|
|
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.164A>G (p.Tyr55Cys)
|
rs1156382110
|
|
NM_017946.4(FKBP14):c.182C>T (p.Ser61Phe)
|
rs1583738133
|
|
NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe)
|
|
|
NM_017946.4(FKBP14):c.203A>G (p.Lys68Arg)
|
|
|
NM_017946.4(FKBP14):c.206A>G (p.His69Arg)
|
rs564539430
|
|
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)
|
|
|
NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys)
|
|
|
NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys)
|
rs1264425307
|
|
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.295G>C (p.Glu99Gln)
|
|
|
NM_017946.4(FKBP14):c.305A>G (p.Lys102Arg)
|
rs1376933291
|
|
NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe)
|
|
|
NM_017946.4(FKBP14):c.32C>T (p.Thr11Ile)
|
rs1235130674
|
|
NM_017946.4(FKBP14):c.349+6A>C
|
rs1790066082
|
|
NM_017946.4(FKBP14):c.350-8C>G
|
rs368867118
|
|
NM_017946.4(FKBP14):c.385A>G (p.Ile129Val)
|
rs771396716
|
|
NM_017946.4(FKBP14):c.40G>C (p.Val14Leu)
|
|
|
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.478-1G>A
|
rs2127946672
|
|
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.527A>G (p.Asn176Ser)
|
rs2127946652
|
|
NM_017946.4(FKBP14):c.52A>G (p.Ile18Val)
|
|
|
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.556G>T (p.Asp186Tyr)
|
rs766873942
|
|
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser)
|
rs773564727
|
|
NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln)
|
rs141843195
|
|
NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp)
|
rs1283044971
|
|
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.632T>C (p.Leu211Ser)
|
|
|
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser)
|
rs2127950957
|
|
NM_017946.4(FKBP14):c.87T>G (p.Ile29Met)
|
|
|
NM_017946.4(FKBP14):c.99G>T (p.Gln33His)
|
|
|
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)
|
|
|
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.13C>T (p.Arg5Trp)
|
rs1638529780
|
|
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)
|
|
|
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.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.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.201_210del (p.Arg68fs)
|
rs2100993446
|
|
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.228C>G (p.Ile76Met)
|
rs1174370874
|
|
NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3])
|
rs1553151151
|
|
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)
|
|
|
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg)
|
rs1409554936
|
|
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)
|
|
|
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs)
|
rs2100993592
|
|
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.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.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.370G>A (p.Ala124Thr)
|
|
|
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly)
|
rs1478246707
|
|
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)
|
|
|
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val)
|
rs2100993852
|
|
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.457C>T (p.Leu153Phe)
|
|
|
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro)
|
rs1638553187
|
|
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu)
|
rs2100993929
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|
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)
|
|
|
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
|
|
|
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs)
|
rs2100993997
|
|
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)
|
|
|
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)
|
rs778123798
|
|
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly)
|
rs2100994072
|
|
NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)
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|
|
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup)
|
rs1057034356
|
|
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)
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|
|
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)
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|
|
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)
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|
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)
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|
|
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)
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|
|
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg)
|
rs2100994186
|
|
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg)
|
rs551984021
|
|
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)
|
rs533071750
|
|
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly)
|
rs1405919033
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|
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys)
|
rs1170976606
|
|
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.673G>T (p.Val225Leu)
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|
|
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)
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|
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NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)
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NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)
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NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)
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|
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NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)
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|
|
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly)
|
rs2100994545
|
|
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)
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|
|
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)
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|
|
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn)
|
rs2100994661
|
|
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)
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|
|
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)
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|
|
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val)
|
rs2100994726
|
|
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)
|
rs1329926209
|
|
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu)
|
rs988906237
|
|
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs)
|
rs1339079870
|
|
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.104G>C (p.Gly35Ala)
|
|
|
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val)
|
rs1566969372
|
|
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser)
|
rs748434505
|
|
NM_130468.4(CHST14):c.130A>G (p.Met44Val)
|
rs1043447552
|
|
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe)
|
rs1046833753
|
|
NM_130468.4(CHST14):c.151G>A (p.Val51Met)
|
rs199749498
|
|
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
|
|
|
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
|
|
|
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly)
|
rs1475453618
|
|
NM_130468.4(CHST14):c.275G>T (p.Gly92Val)
|
rs754720949
|
|
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn)
|
rs1354036515
|
|
NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
|
|
|
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
|
|
|
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
|
|
|
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
|
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro)
|
rs1235160320
|
|
NM_130468.4(CHST14):c.448C>G (p.Leu150Val)
|
rs2141570771
|
|
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn)
|
rs1555410748
|
|
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)
|
rs1894350607
|
|
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
|
|
|
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro)
|
rs756707600
|
|
NM_130468.4(CHST14):c.612G>T (p.Gln204His)
|
rs1894353008
|
|
NM_130468.4(CHST14):c.628C>G (p.Leu210Val)
|
rs1894353259
|
|
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
|
|
|
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp)
|
rs146662235
|
|
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
|
|
|
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe)
|
rs1894354295
|
|
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly)
|
rs1043019552
|
|
NM_130468.4(CHST14):c.692G>A (p.Arg231Gln)
|
rs751335857
|
|
NM_130468.4(CHST14):c.693A>T (p.Arg231=)
|
|
|
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg)
|
rs532315121
|
|
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser)
|
rs1894355892
|
|
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg)
|
rs2141571079
|
|
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
|
|
|
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
|
|
|
NM_130468.4(CHST14):c.977C>T (p.Ala326Val)
|
rs1234827728
|
|
Single allele
|
|
|