NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)
|
rs190796582
|
0.15534
|
NM_004370.6(COL12A1):c.4000+5G>A
|
rs181257320
|
0.00349
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu)
|
rs148291843
|
0.00217
|
NM_004370.6(COL12A1):c.1892-7T>A
|
rs779185109
|
0.00210
|
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)
|
rs568623476
|
0.00202
|
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly)
|
rs147227015
|
0.00193
|
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)
|
rs35363262
|
0.00180
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)
|
rs79632685
|
0.00162
|
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=)
|
rs201266825
|
0.00159
|
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)
|
rs140975523
|
0.00153
|
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
|
rs142476892
|
0.00150
|
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln)
|
rs181511246
|
0.00147
|
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr)
|
rs200317239
|
0.00141
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00131
|
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu)
|
rs200646131
|
0.00125
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr)
|
rs199673248
|
0.00118
|
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)
|
rs61741781
|
0.00116
|
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)
|
rs200408101
|
0.00111
|
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)
|
rs892958562
|
0.00109
|
NM_001128225.3(SLC39A13):c.416-13C>T
|
rs373723938
|
0.00108
|
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
0.00108
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_001128225.3(SLC39A13):c.406G>A (p.Ala136Thr)
|
rs141246142
|
0.00105
|
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)
|
rs199727625
|
0.00104
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val)
|
rs41266763
|
0.00101
|
NM_014244.5(ADAMTS2):c.2958+4C>T
|
rs375345961
|
0.00100
|
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg)
|
rs41269303
|
0.00096
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
|
rs113452150
|
0.00092
|
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=)
|
rs752790963
|
0.00092
|
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)
|
rs139788610
|
0.00087
|
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)
|
rs149616140
|
0.00087
|
NM_001128225.3(SLC39A13):c.646-7T>C
|
rs140597965
|
0.00087
|
NM_000302.4(PLOD1):c.843+17G>C
|
rs201244598
|
0.00086
|
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)
|
rs141650732
|
0.00086
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)
|
rs149212775
|
0.00083
|
NM_004370.6(COL12A1):c.4958-7A>C
|
rs1332779
|
0.00083
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_000302.4(PLOD1):c.776G>A (p.Arg259His)
|
rs144226170
|
0.00076
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met)
|
rs148810173
|
0.00072
|
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr)
|
rs147868179
|
0.00070
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=)
|
rs184663595
|
0.00067
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00063
|
NM_014244.5(ADAMTS2):c.732C>T (p.Gly244=)
|
rs143069972
|
0.00063
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)
|
rs150539264
|
0.00061
|
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys)
|
rs200693552
|
0.00061
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)
|
rs201547600
|
0.00061
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)
|
rs147008954
|
0.00054
|
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=)
|
rs150079799
|
0.00054
|
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=)
|
rs149253571
|
0.00053
|
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=)
|
rs139165192
|
0.00052
|
NM_000302.4(PLOD1):c.1584+17C>T
|
rs200962113
|
0.00052
|
NM_000089.4(COL1A2):c.595-16A>G
|
rs143041120
|
0.00051
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=)
|
rs374962362
|
0.00051
|
NM_013352.4(DSE):c.1173G>A (p.Leu391=)
|
rs146663575
|
0.00051
|
NM_013352.4(DSE):c.1653G>A (p.Leu551=)
|
rs147124340
|
0.00051
|
NM_004370.6(COL12A1):c.7950+18T>G
|
rs141529820
|
0.00049
|
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=)
|
rs200124872
|
0.00047
|
NM_001128225.3(SLC39A13):c.696C>T (p.His232=)
|
rs371961000
|
0.00046
|
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=)
|
rs111683983
|
0.00045
|
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)
|
rs565765056
|
0.00045
|
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)
|
rs200029869
|
0.00045
|
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)
|
rs546361762
|
0.00044
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
NM_004370.6(COL12A1):c.597A>G (p.Gln199=)
|
rs368715192
|
0.00043
|
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)
|
rs201852681
|
0.00042
|
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)
|
rs199702595
|
0.00042
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)
|
rs199724285
|
0.00041
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)
|
rs200201449
|
0.00040
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=)
|
rs200496785
|
0.00039
|
NM_004370.6(COL12A1):c.1892-7_1892-6del
|
rs1491398037
|
0.00039
|
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=)
|
rs190018580
|
0.00039
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
NM_000093.5(COL5A1):c.3690+6T>A
|
rs375998368
|
0.00038
|
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)
|
rs138251296
|
0.00037
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_014244.5(ADAMTS2):c.525C>T (p.Cys175=)
|
rs140167371
|
0.00036
|
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=)
|
rs562616873
|
0.00036
|
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)
|
rs185171880
|
0.00035
|
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val)
|
rs145175057
|
0.00034
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=)
|
rs139468110
|
0.00034
|
NM_004370.6(COL12A1):c.132A>G (p.Ser44=)
|
rs201454637
|
0.00034
|
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)
|
rs778572930
|
0.00034
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_004370.6(COL12A1):c.3954A>T (p.Ala1318=)
|
rs200346099
|
0.00033
|
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)
|
rs151324784
|
0.00033
|
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)
|
rs201988277
|
0.00033
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=)
|
rs370349155
|
0.00031
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
NM_000393.5(COL5A2):c.98-13T>A
|
rs376487446
|
0.00031
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00031
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
NM_000089.4(COL1A2):c.138A>C (p.Pro46=)
|
rs148639088
|
0.00029
|
NM_000302.4(PLOD1):c.1471-9C>G
|
rs376476977
|
0.00029
|
NM_000393.5(COL5A2):c.1923+8T>C
|
rs191193125
|
0.00029
|
NM_001128225.3(SLC39A13):c.415+17G>A
|
rs375059400
|
0.00029
|
NM_001128225.3(SLC39A13):c.792C>T (p.Gly264=)
|
rs141753455
|
0.00029
|
NM_013352.4(DSE):c.1004G>A (p.Arg335His)
|
rs371480627
|
0.00029
|
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)
|
rs368078922
|
0.00029
|
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)
|
rs41317725
|
0.00028
|
NM_007255.3(B4GALT7):c.564G>A (p.Pro188=)
|
rs115756833
|
0.00028
|
NM_014244.5(ADAMTS2):c.1383-15G>A
|
rs373540125
|
0.00028
|
NM_017946.4(FKBP14):c.350-8C>T
|
rs368867118
|
0.00028
|
NM_014244.5(ADAMTS2):c.2290+13G>A
|
rs368267104
|
0.00027
|
NM_014244.5(ADAMTS2):c.2958+7A>G
|
rs377461767
|
0.00027
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)
|
rs142544320
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)
|
rs200570792
|
0.00026
|
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys)
|
rs562076616
|
0.00026
|
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=)
|
rs571054777
|
0.00026
|
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=)
|
rs142721501
|
0.00026
|
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu)
|
rs370679548
|
0.00026
|
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)
|
rs150670521
|
0.00025
|
NM_001128225.3(SLC39A13):c.1011C>T (p.Leu337=)
|
rs113058610
|
0.00025
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
NM_000089.4(COL1A2):c.639+19A>T
|
rs183516726
|
0.00024
|
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)
|
rs147058179
|
0.00024
|
NM_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
0.00024
|
NM_000393.5(COL5A2):c.1433A>T (p.Glu478Val)
|
rs559110283
|
0.00024
|
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=)
|
rs747982811
|
0.00024
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00024
|
NM_000302.4(PLOD1):c.1471-8C>T
|
rs201661871
|
0.00023
|
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)
|
rs200450866
|
0.00023
|
NM_007255.3(B4GALT7):c.867T>C (p.Thr289=)
|
rs201616836
|
0.00023
|
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=)
|
rs145016043
|
0.00023
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=)
|
rs140031713
|
0.00022
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
NM_004370.6(COL12A1):c.1892-7_1892-6insC
|
rs34433354
|
0.00022
|
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=)
|
rs567079114
|
0.00022
|
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=)
|
rs370691983
|
0.00022
|
NM_004370.6(COL12A1):c.823+20T>C
|
rs534530101
|
0.00022
|
NM_007255.3(B4GALT7):c.222C>G (p.Ala74=)
|
rs200218920
|
0.00022
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
NM_014244.5(ADAMTS2):c.759G>A (p.Ser253=)
|
rs374180760
|
0.00022
|
NM_130468.4(CHST14):c.993C>A (p.Ala331=)
|
rs138273557
|
0.00022
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=)
|
rs146206917
|
0.00021
|
NM_000090.4(COL3A1):c.799-11A>T
|
rs200148262
|
0.00021
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000093.5(COL5A1):c.1774-7C>A
|
rs371941850
|
0.00021
|
NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro)
|
rs768691969
|
0.00021
|
NM_000093.5(COL5A1):c.921C>T (p.Pro307=)
|
rs144335980
|
0.00021
|
NM_000302.4(PLOD1):c.303-16G>A
|
rs369132980
|
0.00021
|
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=)
|
rs202092920
|
0.00021
|
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)
|
rs200034130
|
0.00021
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=)
|
rs137875904
|
0.00021
|
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)
|
rs144138766
|
0.00021
|
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=)
|
rs185794582
|
0.00021
|
NM_014244.5(ADAMTS2):c.3624C>T (p.Leu1208=)
|
rs139420412
|
0.00021
|
NM_000089.4(COL1A2):c.2754C>T (p.Asn918=)
|
rs375719762
|
0.00020
|
NM_000093.5(COL5A1):c.999C>T (p.Val333=)
|
rs138702819
|
0.00020
|
NM_000393.5(COL5A2):c.2338-6T>C
|
rs375291199
|
0.00020
|
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=)
|
rs765470622
|
0.00019
|
NM_000089.4(COL1A2):c.873C>T (p.Ser291=)
|
rs770128801
|
0.00019
|
NM_000093.5(COL5A1):c.2844+20G>A
|
rs200916696
|
0.00019
|
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser)
|
rs139116598
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met)
|
rs145093766
|
0.00019
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
NM_000302.4(PLOD1):c.411G>A (p.Arg137=)
|
rs151122664
|
0.00019
|
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=)
|
rs375110673
|
0.00019
|
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)
|
rs372170366
|
0.00019
|
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=)
|
rs147111006
|
0.00019
|
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn)
|
rs185615367
|
0.00019
|
NM_013352.4(DSE):c.450G>A (p.Pro150=)
|
rs773416085
|
0.00019
|
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)
|
rs199664723
|
0.00019
|
NM_000089.4(COL1A2):c.1474A>G (p.Ile492Val)
|
rs776551401
|
0.00018
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_000093.5(COL5A1):c.2799+11G>A
|
rs377322092
|
0.00018
|
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln)
|
rs771807198
|
0.00018
|
NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr)
|
rs150083065
|
0.00018
|
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)
|
rs200131516
|
0.00018
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)
|
rs373288848
|
0.00018
|
NM_004370.6(COL12A1):c.5251+14T>C
|
rs188210409
|
0.00018
|
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
|
rs200091648
|
0.00018
|
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln)
|
rs182768408
|
0.00018
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=)
|
rs147197558
|
0.00018
|
NM_130468.4(CHST14):c.471G>A (p.Val157=)
|
rs200761477
|
0.00018
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)
|
rs145090868
|
0.00017
|
NM_000093.5(COL5A1):c.417C>T (p.Leu139=)
|
rs138687282
|
0.00017
|
NM_000093.5(COL5A1):c.5137-8C>T
|
rs374377228
|
0.00017
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr)
|
rs754018138
|
0.00017
|
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)
|
rs377413592
|
0.00017
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
NM_013352.4(DSE):c.2727T>C (p.Ile909=)
|
rs199742443
|
0.00017
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
NM_000089.4(COL1A2):c.132+20T>C
|
rs767408109
|
0.00016
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
0.00016
|
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=)
|
rs141091206
|
0.00016
|
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)
|
rs112164939
|
0.00016
|
NM_000093.5(COL5A1):c.1569+20G>A
|
rs200690483
|
0.00016
|
NM_000093.5(COL5A1):c.2287-16T>G
|
rs201161949
|
0.00016
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
NM_000393.5(COL5A2):c.288T>C (p.Cys96=)
|
rs577308799
|
0.00016
|
NM_000393.5(COL5A2):c.961-14T>C
|
rs199880428
|
0.00016
|
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)
|
rs367630003
|
0.00016
|
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val)
|
rs201657576
|
0.00016
|
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=)
|
rs181007051
|
0.00016
|
NM_007255.3(B4GALT7):c.498G>A (p.Leu166=)
|
rs140848441
|
0.00016
|
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu)
|
rs200732558
|
0.00016
|
NM_013352.4(DSE):c.1221T>A (p.Pro407=)
|
rs140103226
|
0.00016
|
NM_000093.5(COL5A1):c.4954+16G>A
|
rs370938164
|
0.00015
|
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=)
|
rs139230801
|
0.00015
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)
|
rs140851866
|
0.00015
|
NM_004370.6(COL12A1):c.3443+16G>A
|
rs371060233
|
0.00015
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr)
|
rs199654252
|
0.00015
|
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)
|
rs756942664
|
0.00015
|
NM_013352.4(DSE):c.910+20G>A
|
rs376761852
|
0.00015
|
NM_014244.5(ADAMTS2):c.2617+19del
|
rs753157368
|
0.00015
|
NM_000089.4(COL1A2):c.1252-17T>G
|
rs774667135
|
0.00014
|
NM_000089.4(COL1A2):c.2836-17C>T
|
rs370073620
|
0.00014
|
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
|
rs369434464
|
0.00014
|
NM_000090.4(COL3A1):c.1348-18A>G
|
rs115062076
|
0.00014
|
NM_000090.4(COL3A1):c.3040-18T>G
|
rs369590025
|
0.00014
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu)
|
rs140943202
|
0.00014
|
NM_000093.5(COL5A1):c.2089-8G>A
|
rs368595229
|
0.00014
|
NM_000093.5(COL5A1):c.3114+12G>C
|
rs528913410
|
0.00014
|
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00014
|
NM_000093.5(COL5A1):c.36G>C (p.Ala12=)
|
rs1029930975
|
0.00014
|
NM_000093.5(COL5A1):c.3906+19C>T
|
rs571788196
|
0.00014
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_000302.4(PLOD1):c.2028+17C>T
|
rs373318413
|
0.00014
|
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser)
|
rs376971803
|
0.00014
|
NM_001128225.3(SLC39A13):c.416-12C>T
|
rs199512587
|
0.00014
|
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=)
|
rs370024636
|
0.00014
|
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=)
|
rs368930149
|
0.00014
|
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=)
|
rs369770672
|
0.00014
|
NM_004370.6(COL12A1):c.8469+14T>C
|
rs370535727
|
0.00014
|
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)
|
rs57396313
|
0.00014
|
NM_013352.4(DSE):c.240C>T (p.Ser80=)
|
rs143347973
|
0.00014
|
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val)
|
rs368221089
|
0.00014
|
NM_014244.5(ADAMTS2):c.2290+16G>A
|
rs377081338
|
0.00014
|
NM_014244.5(ADAMTS2):c.975+8C>T
|
rs369740542
|
0.00014
|
NM_017946.4(FKBP14):c.525G>T (p.Val175=)
|
rs747381671
|
0.00014
|
NM_130468.4(CHST14):c.765C>T (p.Gly255=)
|
rs148053059
|
0.00014
|
NM_000090.4(COL3A1):c.2733T>C (p.Thr911=)
|
rs138961881
|
0.00013
|
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)
|
rs201220788
|
0.00013
|
NM_000093.5(COL5A1):c.1476C>T (p.Val492=)
|
rs141093527
|
0.00013
|
NM_000093.5(COL5A1):c.1720-12A>C
|
rs372891725
|
0.00013
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000093.5(COL5A1):c.2332-16T>A
|
rs369948898
|
0.00013
|
NM_000093.5(COL5A1):c.2845-17C>A
|
rs368737278
|
0.00013
|
NM_000093.5(COL5A1):c.3576C>A (p.Gly1192=)
|
rs141676973
|
0.00013
|
NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=)
|
rs368011067
|
0.00013
|
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val)
|
rs112858705
|
0.00013
|
NM_000302.4(PLOD1):c.644-11C>T
|
rs375303994
|
0.00013
|
NM_000302.4(PLOD1):c.843+10C>T
|
rs149399201
|
0.00013
|
NM_000302.4(PLOD1):c.853C>T (p.Leu285=)
|
rs370663808
|
0.00013
|
NM_000302.4(PLOD1):c.975+14G>A
|
rs371184529
|
0.00013
|
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala)
|
rs542643688
|
0.00013
|
NM_000393.5(COL5A2):c.228C>T (p.Cys76=)
|
rs564136480
|
0.00013
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)
|
rs149064715
|
0.00013
|
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=)
|
rs140844921
|
0.00013
|
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys)
|
rs377223474
|
0.00013
|
NM_004370.6(COL12A1):c.4001-11C>T
|
rs374279219
|
0.00013
|
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=)
|
rs376582053
|
0.00013
|
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=)
|
rs61754844
|
0.00013
|
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=)
|
rs138580383
|
0.00013
|
NM_000089.4(COL1A2):c.1972-9T>C
|
rs372800013
|
0.00012
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
0.00012
|
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=)
|
rs370034518
|
0.00012
|
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)
|
rs146837092
|
0.00012
|
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)
|
rs201871481
|
0.00012
|
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)
|
rs767284056
|
0.00012
|
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
NM_000302.4(PLOD1):c.2181C>T (p.Pro727=)
|
rs140741046
|
0.00012
|
NM_004370.6(COL12A1):c.1891+4A>G
|
rs148292262
|
0.00012
|
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)
|
rs199692759
|
0.00012
|
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)
|
rs777544552
|
0.00012
|
NM_007255.3(B4GALT7):c.717G>C (p.Gly239=)
|
rs149805079
|
0.00012
|
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)
|
rs369654932
|
0.00012
|
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=)
|
rs780314895
|
0.00012
|
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=)
|
rs370430307
|
0.00012
|
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=)
|
rs532162467
|
0.00012
|
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
|
rs202068380
|
0.00011
|
NM_000089.4(COL1A2):c.2782-19T>G
|
rs193922164
|
0.00011
|
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu)
|
rs150543864
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)
|
rs374020067
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)
|
rs146195310
|
0.00011
|
NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=)
|
rs192806271
|
0.00011
|
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=)
|
rs143794669
|
0.00011
|
NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu)
|
rs377062537
|
0.00011
|
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)
|
rs147398633
|
0.00011
|
NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His)
|
rs199998065
|
0.00011
|
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)
|
rs747549921
|
0.00011
|
NM_000302.4(PLOD1):c.1608C>T (p.His536=)
|
rs138289419
|
0.00011
|
NM_000302.4(PLOD1):c.678G>A (p.Val226=)
|
rs371007185
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=)
|
rs370304175
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His)
|
rs139264859
|
0.00011
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
0.00011
|
NM_000393.5(COL5A2):c.906+9A>G
|
rs761662868
|
0.00011
|
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg)
|
rs752689011
|
0.00011
|
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)
|
rs558571598
|
0.00011
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00011
|
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=)
|
rs369646700
|
0.00011
|
NM_013352.4(DSE):c.1383T>A (p.Ala461=)
|
rs200485959
|
0.00011
|
NM_013352.4(DSE):c.516A>G (p.Thr172=)
|
rs200780195
|
0.00011
|
NM_013352.4(DSE):c.645G>A (p.Thr215=)
|
rs370613241
|
0.00011
|
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)
|
rs150535792
|
0.00011
|
NM_000089.4(COL1A2):c.1770A>G (p.Glu590=)
|
rs138019868
|
0.00010
|
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)
|
rs148362963
|
0.00010
|
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)
|
rs745413783
|
0.00010
|
NM_000089.4(COL1A2):c.486+15A>G
|
rs193922171
|
0.00010
|
NM_000090.4(COL3A1):c.120G>A (p.Ala40=)
|
rs138115610
|
0.00010
|
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=)
|
rs141542949
|
0.00010
|
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=)
|
rs375673185
|
0.00010
|
NM_000090.4(COL3A1):c.3525+19G>A
|
rs781061046
|
0.00010
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=)
|
rs745633063
|
0.00010
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=)
|
rs142347159
|
0.00010
|
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=)
|
rs367804791
|
0.00010
|
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)
|
rs148006741
|
0.00010
|
NM_000393.5(COL5A2):c.3039+7A>G
|
rs369227715
|
0.00010
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)
|
rs142895373
|
0.00010
|
NM_004370.6(COL12A1):c.1050T>C (p.Val350=)
|
rs372113789
|
0.00010
|
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=)
|
rs373522815
|
0.00010
|
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys)
|
rs530680231
|
0.00010
|
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=)
|
rs190984968
|
0.00010
|
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)
|
rs376189614
|
0.00010
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
NM_014244.5(ADAMTS2):c.1605C>T (p.Asp535=)
|
rs765566532
|
0.00010
|
NM_014244.5(ADAMTS2):c.2085+8C>A
|
rs199825726
|
0.00010
|
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=)
|
rs531768193
|
0.00010
|
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=)
|
rs397514722
|
0.00010
|
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp)
|
rs577809616
|
0.00010
|
NM_000089.4(COL1A2):c.1720-13A>C
|
rs755024426
|
0.00009
|
NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=)
|
rs930277720
|
0.00009
|
NM_000089.4(COL1A2):c.739-4T>G
|
rs373527410
|
0.00009
|
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=)
|
rs765802289
|
0.00009
|
NM_000090.4(COL3A1):c.3256-12A>G
|
rs763415324
|
0.00009
|
NM_000093.5(COL5A1):c.1570-7C>T
|
rs566717644
|
0.00009
|
NM_000093.5(COL5A1):c.1935+12C>T
|
rs368245632
|
0.00009
|
NM_000093.5(COL5A1):c.2844+19C>T
|
rs370610276
|
0.00009
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00009
|
NM_000093.5(COL5A1):c.3007-19A>G
|
rs370503113
|
0.00009
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=)
|
rs764683617
|
0.00009
|
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)
|
rs368305377
|
0.00009
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=)
|
rs541963919
|
0.00009
|
NM_000093.5(COL5A1):c.4068+7G>A
|
rs587780905
|
0.00009
|
NM_000093.5(COL5A1):c.5370+13C>T
|
rs368524277
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000393.5(COL5A2):c.2715+11T>C
|
rs371363636
|
0.00009
|
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys)
|
rs930378570
|
0.00009
|
NM_000393.5(COL5A2):c.570G>A (p.Pro190=)
|
rs139666335
|
0.00009
|
NM_001128225.3(SLC39A13):c.919+14G>A
|
rs377290130
|
0.00009
|
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
|
rs200167099
|
0.00009
|
NM_004370.6(COL12A1):c.3099T>C (p.His1033=)
|
rs751065518
|
0.00009
|
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala)
|
rs528319887
|
0.00009
|
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val)
|
rs763883662
|
0.00009
|
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=)
|
rs373978519
|
0.00009
|
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=)
|
rs372068116
|
0.00009
|
NM_004370.6(COL12A1):c.8100+16T>A
|
rs201476445
|
0.00009
|
NM_004370.6(COL12A1):c.8523+18G>C
|
rs202002189
|
0.00009
|
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)
|
rs200375837
|
0.00009
|
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=)
|
rs375760724
|
0.00009
|
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=)
|
rs372857848
|
0.00009
|
NM_007255.3(B4GALT7):c.828+10G>A
|
rs766078359
|
0.00009
|
NM_007255.3(B4GALT7):c.909C>T (p.Gly303=)
|
rs557374282
|
0.00009
|
NM_013352.4(DSE):c.2601C>T (p.Tyr867=)
|
rs535021192
|
0.00009
|
NM_014244.5(ADAMTS2):c.1775+18C>A
|
rs199809828
|
0.00009
|
NM_014244.5(ADAMTS2):c.3088+15G>A
|
rs910578729
|
0.00009
|
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=)
|
rs374590440
|
0.00009
|
NM_017946.4(FKBP14):c.197+16C>T
|
rs375347830
|
0.00009
|
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=)
|
rs764859016
|
0.00009
|
NM_000089.4(COL1A2):c.3954+19T>C
|
rs369698720
|
0.00008
|
NM_000090.4(COL3A1):c.1050+6C>T
|
rs528634384
|
0.00008
|
NM_000090.4(COL3A1):c.1977+10G>A
|
rs768976215
|
0.00008
|
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=)
|
rs771034601
|
0.00008
|
NM_000093.5(COL5A1):c.3852+9C>T
|
rs548696863
|
0.00008
|
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala)
|
rs556167410
|
0.00008
|
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=)
|
rs767372665
|
0.00008
|
NM_000093.5(COL5A1):c.5137-7C>T
|
rs376750863
|
0.00008
|
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
0.00008
|
NM_000302.4(PLOD1):c.643+15C>T
|
rs376661744
|
0.00008
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
NM_001128225.3(SLC39A13):c.621C>T (p.Leu207=)
|
rs775396957
|
0.00008
|
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)
|
rs201657256
|
0.00008
|
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)
|
rs200698641
|
0.00008
|
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=)
|
rs746395625
|
0.00008
|
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=)
|
rs755878864
|
0.00008
|
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)
|
rs200108494
|
0.00008
|
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)
|
rs754228661
|
0.00008
|
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)
|
rs181711422
|
0.00008
|
NM_013352.4(DSE):c.1860C>T (p.Asp620=)
|
rs376227527
|
0.00008
|
NM_014244.5(ADAMTS2):c.2086-5A>C
|
rs770697326
|
0.00008
|
NM_014244.5(ADAMTS2):c.513G>T (p.Ala171=)
|
rs369983319
|
0.00008
|
NM_130468.4(CHST14):c.151G>C (p.Val51Leu)
|
rs199749498
|
0.00008
|
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)
|
rs199732595
|
0.00007
|
NM_000089.4(COL1A2):c.2025+9A>G
|
rs368837694
|
0.00007
|
NM_000089.4(COL1A2):c.855G>C (p.Val285=)
|
rs185254570
|
0.00007
|
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=)
|
rs763343051
|
0.00007
|
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=)
|
rs147250987
|
0.00007
|
NM_000090.4(COL3A1):c.952-7T>A
|
rs371250417
|
0.00007
|
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=)
|
rs758336822
|
0.00007
|
NM_000093.5(COL5A1):c.3115-10C>T
|
rs1018752469
|
0.00007
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00007
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)
|
rs147434147
|
0.00007
|
NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=)
|
rs144081161
|
0.00007
|
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)
|
rs142886387
|
0.00007
|
NM_000302.4(PLOD1):c.1218G>A (p.Pro406=)
|
rs754812888
|
0.00007
|
NM_000302.4(PLOD1):c.1903-5T>A
|
rs776128914
|
0.00007
|
NM_000302.4(PLOD1):c.579+16C>T
|
rs552192756
|
0.00007
|
NM_000393.5(COL5A2):c.2770-6T>C
|
rs770409954
|
0.00007
|
NM_000393.5(COL5A2):c.2931+18G>A
|
rs369992922
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)
|
rs758412337
|
0.00007
|
NM_000393.5(COL5A2):c.4354-20A>G
|
rs568113641
|
0.00007
|
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)
|
rs368234550
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_001128225.3(SLC39A13):c.948G>A (p.Thr316=)
|
rs531462966
|
0.00007
|
NM_004370.6(COL12A1):c.1134C>T (p.His378=)
|
rs376523503
|
0.00007
|
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)
|
rs376514006
|
0.00007
|
NM_004370.6(COL12A1):c.4288-12T>A
|
rs377491153
|
0.00007
|
NM_004370.6(COL12A1):c.4644C>T (p.Val1548=)
|
rs747738369
|
0.00007
|
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)
|
rs373011926
|
0.00007
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00007
|
NM_007255.3(B4GALT7):c.522C>T (p.Asp174=)
|
rs775207945
|
0.00007
|
NM_007255.3(B4GALT7):c.561C>T (p.Ser187=)
|
rs767559423
|
0.00007
|
NM_013352.4(DSE):c.1005T>A (p.Arg335=)
|
rs375802351
|
0.00007
|
NM_014244.5(ADAMTS2):c.1133-19G>A
|
rs537699455
|
0.00007
|
NM_014244.5(ADAMTS2):c.1239-12C>T
|
rs772989447
|
0.00007
|
NM_014244.5(ADAMTS2):c.2052C>T (p.Asp684=)
|
rs370799965
|
0.00007
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=)
|
rs182103023
|
0.00007
|
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)
|
rs769689633
|
0.00007
|
NM_014244.5(ADAMTS2):c.663C>T (p.Leu221=)
|
rs143757086
|
0.00007
|
NM_017946.4(FKBP14):c.350-5G>A
|
rs763069544
|
0.00007
|
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=)
|
rs759484127
|
0.00007
|
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)
|
rs370328225
|
0.00007
|
NM_000089.4(COL1A2):c.1036-9G>A
|
rs202024467
|
0.00006
|
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=)
|
rs200284501
|
0.00006
|
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)
|
rs749869789
|
0.00006
|
NM_000089.4(COL1A2):c.2250C>T (p.Asn750=)
|
rs372783567
|
0.00006
|
NM_000089.4(COL1A2):c.2796C>T (p.Asn932=)
|
rs757671800
|
0.00006
|
NM_000089.4(COL1A2):c.2943+12A>T
|
rs544894904
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000089.4(COL1A2):c.81+15T>C
|
rs758384218
|
0.00006
|
NM_000090.4(COL3A1):c.1128C>T (p.His376=)
|
rs771015742
|
0.00006
|
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=)
|
rs149093989
|
0.00006
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=)
|
rs148901664
|
0.00006
|
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=)
|
rs112723105
|
0.00006
|
NM_000090.4(COL3A1):c.2824-5A>T
|
rs373994011
|
0.00006
|
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=)
|
rs367872728
|
0.00006
|
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=)
|
rs200917999
|
0.00006
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
NM_000090.4(COL3A1):c.3418-12A>G
|
rs373367218
|
0.00006
|
NM_000090.4(COL3A1):c.3993C>T (p.Ser1331=)
|
rs750815694
|
0.00006
|
NM_000090.4(COL3A1):c.546C>T (p.Pro182=)
|
rs754584062
|
0.00006
|
NM_000090.4(COL3A1):c.744+11A>G
|
rs375977001
|
0.00006
|
NM_000090.4(COL3A1):c.873C>T (p.Gly291=)
|
rs138569287
|
0.00006
|
NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu)
|
rs746905443
|
0.00006
|
NM_000093.5(COL5A1):c.1668A>G (p.Ala556=)
|
rs750022273
|
0.00006
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
0.00006
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
NM_000093.5(COL5A1):c.2646+14G>A
|
rs200583777
|
0.00006
|
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=)
|
rs746323129
|
0.00006
|
NM_000093.5(COL5A1):c.3205-18C>G
|
rs199557977
|
0.00006
|
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
|
rs376248130
|
0.00006
|
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=)
|
rs145134399
|
0.00006
|
NM_000093.5(COL5A1):c.3510G>A (p.Lys1170=)
|
rs543950268
|
0.00006
|
NM_000093.5(COL5A1):c.3600G>A (p.Pro1200=)
|
rs187345008
|
0.00006
|
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=)
|
rs150591401
|
0.00006
|
NM_000093.5(COL5A1):c.3906+11G>A
|
rs372939968
|
0.00006
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
NM_000093.5(COL5A1):c.408C>T (p.Pro136=)
|
rs376435758
|
0.00006
|
NM_000093.5(COL5A1):c.447G>A (p.Pro149=)
|
rs200290973
|
0.00006
|
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=)
|
rs144672706
|
0.00006
|
NM_000093.5(COL5A1):c.753C>T (p.Thr251=)
|
rs374813957
|
0.00006
|
NM_000302.4(PLOD1):c.1651-8C>T
|
rs191817164
|
0.00006
|
NM_000302.4(PLOD1):c.276G>A (p.Glu92=)
|
rs768169776
|
0.00006
|
NM_000302.4(PLOD1):c.534C>T (p.Ser178=)
|
rs113384442
|
0.00006
|
NM_000302.4(PLOD1):c.77-7T>C
|
rs371488160
|
0.00006
|
NM_000393.5(COL5A2):c.1617+9G>T
|
rs186490845
|
0.00006
|
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=)
|
rs773332771
|
0.00006
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)
|
rs199530997
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=)
|
rs1131429
|
0.00006
|
NM_000393.5(COL5A2):c.735T>G (p.Pro245=)
|
rs148851552
|
0.00006
|
NM_000393.5(COL5A2):c.906+14A>G
|
rs768645507
|
0.00006
|
NM_000393.5(COL5A2):c.985A>G (p.Met329Val)
|
rs140785678
|
0.00006
|
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=)
|
rs772924353
|
0.00006
|
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu)
|
rs542593908
|
0.00006
|
NM_001128225.3(SLC39A13):c.786+8C>T
|
rs572017658
|
0.00006
|
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe)
|
rs756100330
|
0.00006
|
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe)
|
rs376517147
|
0.00006
|
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met)
|
rs149832668
|
0.00006
|
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)
|
rs368113790
|
0.00006
|
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=)
|
rs376957850
|
0.00006
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)
|
rs200819563
|
0.00006
|
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=)
|
rs201270183
|
0.00006
|
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=)
|
rs536622585
|
0.00006
|
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=)
|
rs752068052
|
0.00006
|
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr)
|
rs41269309
|
0.00006
|
NM_004370.6(COL12A1):c.4518A>G (p.Ser1506=)
|
rs201039857
|
0.00006
|
NM_004370.6(COL12A1):c.525G>A (p.Glu175=)
|
rs199736979
|
0.00006
|
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=)
|
rs201965731
|
0.00006
|
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)
|
rs770194625
|
0.00006
|
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=)
|
rs144223578
|
0.00006
|
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile)
|
rs372482618
|
0.00006
|
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys)
|
rs777948762
|
0.00006
|
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys)
|
rs534778154
|
0.00006
|
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)
|
rs34336755
|
0.00006
|
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr)
|
rs576888932
|
0.00006
|
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=)
|
rs1035643006
|
0.00006
|
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala)
|
rs758182752
|
0.00006
|
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=)
|
rs568748031
|
0.00006
|
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp)
|
rs769219928
|
0.00006
|
NM_004370.6(COL12A1):c.7520-17A>G
|
rs770500462
|
0.00006
|
NM_004370.6(COL12A1):c.7558+16T>C
|
rs754091668
|
0.00006
|
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=)
|
rs763305624
|
0.00006
|
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=)
|
rs150487733
|
0.00006
|
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp)
|
rs147617631
|
0.00006
|
NM_007255.3(B4GALT7):c.723+13G>A
|
rs775276570
|
0.00006
|
NM_013352.4(DSE):c.1419C>T (p.Tyr473=)
|
rs374010235
|
0.00006
|
NM_013352.4(DSE):c.600A>G (p.Gln200=)
|
rs150006874
|
0.00006
|
NM_014244.5(ADAMTS2):c.1239-5C>T
|
rs767804420
|
0.00006
|
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr)
|
rs546681307
|
0.00006
|
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=)
|
rs778841966
|
0.00006
|
NM_014244.5(ADAMTS2):c.2085+17C>T
|
rs200253382
|
0.00006
|
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=)
|
rs763792775
|
0.00006
|
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=)
|
rs373732340
|
0.00006
|
NM_014244.5(ADAMTS2):c.747C>T (p.His249=)
|
rs755476647
|
0.00006
|
NM_014244.5(ADAMTS2):c.75G>C (p.Pro25=)
|
rs965841596
|
0.00006
|
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=)
|
rs779285702
|
0.00006
|
NM_130468.4(CHST14):c.447C>T (p.Phe149=)
|
rs761965484
|
0.00006
|
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=)
|
rs747938841
|
0.00005
|
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp)
|
rs151256720
|
0.00005
|
NM_000089.4(COL1A2):c.2388T>C (p.Gly796=)
|
rs370623514
|
0.00005
|
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)
|
rs926855674
|
0.00005
|
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu)
|
rs370234887
|
0.00005
|
NM_000090.4(COL3A1):c.1150-20T>C
|
rs377676752
|
0.00005
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=)
|
rs745440847
|
0.00005
|
NM_000090.4(COL3A1):c.2553+7T>C
|
rs951182466
|
0.00005
|
NM_000093.5(COL5A1):c.1165-8C>T
|
rs770303209
|
0.00005
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)
|
rs372082908
|
0.00005
|
NM_000093.5(COL5A1):c.2034+18G>C
|
rs200055343
|
0.00005
|
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=)
|
rs368590323
|
0.00005
|
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)
|
rs377123592
|
0.00005
|
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp)
|
rs185912761
|
0.00005
|
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=)
|
rs144775947
|
0.00005
|
NM_000093.5(COL5A1):c.2593-15T>C
|
rs747677530
|
0.00005
|
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=)
|
rs774035950
|
0.00005
|
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=)
|
rs546229885
|
0.00005
|
NM_000093.5(COL5A1):c.4068+11A>G
|
rs371926479
|
0.00005
|
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=)
|
rs537406193
|
0.00005
|
NM_000093.5(COL5A1):c.4609-18G>A
|
rs759466196
|
0.00005
|
NM_000093.5(COL5A1):c.4645-16T>C
|
rs373762865
|
0.00005
|
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=)
|
rs147904867
|
0.00005
|
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)
|
rs372971566
|
0.00005
|
NM_000302.4(PLOD1):c.1071G>A (p.Ala357=)
|
rs374036329
|
0.00005
|
NM_000302.4(PLOD1):c.1470+14G>A
|
rs761691961
|
0.00005
|
NM_000302.4(PLOD1):c.870C>T (p.Val290=)
|
rs373082170
|
0.00005
|
NM_000393.5(COL5A2):c.1005+10C>T
|
rs767297800
|
0.00005
|
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)
|
rs370774253
|
0.00005
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys)
|
rs754429372
|
0.00005
|
NM_000393.5(COL5A2):c.3309+16A>G
|
rs369424272
|
0.00005
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly)
|
rs374757163
|
0.00005
|
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=)
|
rs199994914
|
0.00005
|
NM_004370.6(COL12A1):c.1892-6A>T
|
rs60109744
|
0.00005
|
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp)
|
rs758146130
|
0.00005
|
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=)
|
rs377030726
|
0.00005
|
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=)
|
rs374531525
|
0.00005
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)
|
rs575168916
|
0.00005
|
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)
|
rs191996302
|
0.00005
|
NM_004370.6(COL12A1):c.384C>T (p.Thr128=)
|
rs200378966
|
0.00005
|
NM_004370.6(COL12A1):c.4288-5C>T
|
rs544779989
|
0.00005
|
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
|
rs200870100
|
0.00005
|
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=)
|
rs554342070
|
0.00005
|
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)
|
rs367980407
|
0.00005
|
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=)
|
rs572512247
|
0.00005
|
NM_007255.3(B4GALT7):c.600C>T (p.Val200=)
|
rs148615542
|
0.00005
|
NM_007255.3(B4GALT7):c.66C>T (p.Ser22=)
|
rs774814337
|
0.00005
|
NM_007255.3(B4GALT7):c.723+7T>C
|
rs376100460
|
0.00005
|
NM_014244.5(ADAMTS2):c.1209G>A (p.Ala403=)
|
rs142967783
|
0.00005
|
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=)
|
rs462009
|
0.00005
|
NM_014244.5(ADAMTS2):c.3178+7G>A
|
rs774767519
|
0.00005
|
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=)
|
rs540177122
|
0.00005
|
NM_014244.5(ADAMTS2):c.535-20C>T
|
rs565768078
|
0.00005
|
NM_017946.4(FKBP14):c.350-6C>T
|
rs375827354
|
0.00005
|
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=)
|
rs766907387
|
0.00005
|
NM_130468.4(CHST14):c.1119G>A (p.Ala373=)
|
rs149555952
|
0.00005
|
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=)
|
rs142310831
|
0.00004
|
NM_000089.4(COL1A2):c.3106-19T>G
|
rs779002473
|
0.00004
|
NM_000089.4(COL1A2):c.3114T>C (p.His1038=)
|
rs974267627
|
0.00004
|
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)
|
rs767399660
|
0.00004
|
NM_000089.4(COL1A2):c.3268-9C>T
|
rs763122023
|
0.00004
|
NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn)
|
rs760490617
|
0.00004
|
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=)
|
rs936707370
|
0.00004
|
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=)
|
rs777362679
|
0.00004
|
NM_000089.4(COL1A2):c.70+8C>T
|
rs982206007
|
0.00004
|
NM_000089.4(COL1A2):c.71-7T>C
|
rs774842422
|
0.00004
|
NM_000089.4(COL1A2):c.909C>T (p.Asn303=)
|
rs985639597
|
0.00004
|
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=)
|
rs373908002
|
0.00004
|
NM_000090.4(COL3A1):c.1348-13T>C
|
rs753505868
|
0.00004
|
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=)
|
rs140229974
|
0.00004
|
NM_000090.4(COL3A1):c.2121+18C>A
|
rs587780904
|
0.00004
|
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=)
|
rs113870310
|
0.00004
|
NM_000090.4(COL3A1):c.2931+8T>C
|
rs949146538
|
0.00004
|
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=)
|
rs756680770
|
0.00004
|
NM_000090.4(COL3A1):c.3202-17G>A
|
rs769789431
|
0.00004
|
NM_000090.4(COL3A1):c.898-20A>G
|
rs368279636
|
0.00004
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser)
|
rs537950589
|
0.00004
|
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=)
|
rs746510456
|
0.00004
|
NM_000093.5(COL5A1):c.219C>T (p.Val73=)
|
rs774691915
|
0.00004
|
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)
|
rs367755808
|
0.00004
|
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val)
|
rs146870918
|
0.00004
|
NM_000093.5(COL5A1):c.2485-10T>C
|
rs369553063
|
0.00004
|
NM_000093.5(COL5A1):c.2592+17G>A
|
rs750947144
|
0.00004
|
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=)
|
rs770802769
|
0.00004
|
NM_000093.5(COL5A1):c.4044C>T (p.Gly1348=)
|
rs369945188
|
0.00004
|
NM_000093.5(COL5A1):c.4123-20G>A
|
rs751725995
|
0.00004
|
NM_000093.5(COL5A1):c.4155A>G (p.Pro1385=)
|
rs1476164063
|
0.00004
|
NM_000093.5(COL5A1):c.4231-19G>T
|
rs1002531122
|
0.00004
|
NM_000093.5(COL5A1):c.4521C>T (p.Gly1507=)
|
rs552985514
|
0.00004
|
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)
|
rs367711669
|
0.00004
|
NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=)
|
rs999637196
|
0.00004
|
NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser)
|
rs551016059
|
0.00004
|
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=)
|
rs149981025
|
0.00004
|
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)
|
rs199637893
|
0.00004
|
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met)
|
rs201771867
|
0.00004
|
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=)
|
rs190912679
|
0.00004
|
NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=)
|
rs759203958
|
0.00004
|
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=)
|
rs747118500
|
0.00004
|
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp)
|
rs780400029
|
0.00004
|
NM_000093.5(COL5A1):c.5361C>T (p.Asp1787=)
|
rs776090002
|
0.00004
|
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=)
|
rs765397184
|
0.00004
|
NM_000093.5(COL5A1):c.945G>A (p.Thr315=)
|
rs149123775
|
0.00004
|
NM_000302.4(PLOD1):c.1026C>T (p.Ser342=)
|
rs140159343
|
0.00004
|
NM_000302.4(PLOD1):c.1302C>T (p.Tyr434=)
|
rs759448456
|
0.00004
|
NM_000302.4(PLOD1):c.1471-18C>T
|
rs368968576
|
0.00004
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
NM_000302.4(PLOD1):c.1629G>C (p.Leu543=)
|
rs764355890
|
0.00004
|
NM_000302.4(PLOD1):c.243G>A (p.Leu81=)
|
rs371574381
|
0.00004
|
NM_000302.4(PLOD1):c.30G>C (p.Leu10=)
|
rs886039113
|
0.00004
|
NM_000302.4(PLOD1):c.438C>T (p.Ser146=)
|
rs765725567
|
0.00004
|
NM_000302.4(PLOD1):c.742-5G>A
|
rs746658625
|
0.00004
|
NM_000302.4(PLOD1):c.930G>A (p.Arg310=)
|
rs751800110
|
0.00004
|
NM_000393.5(COL5A2):c.1005+11G>A
|
rs371296580
|
0.00004
|
NM_000393.5(COL5A2):c.1105-18T>C
|
rs930742709
|
0.00004
|
NM_000393.5(COL5A2):c.2292G>A (p.Pro764=)
|
rs751503520
|
0.00004
|
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=)
|
rs149574060
|
0.00004
|
NM_000393.5(COL5A2):c.3525+9del
|
rs1279747855
|
0.00004
|
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
|
rs745845130
|
0.00004
|
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
|
rs201460445
|
0.00004
|
NM_000393.5(COL5A2):c.3613G>A (p.Val1205Ile)
|
rs377660244
|
0.00004
|
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=)
|
rs760353505
|
0.00004
|
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=)
|
rs199904322
|
0.00004
|
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=)
|
rs754605516
|
0.00004
|
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu)
|
rs374225489
|
0.00004
|
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His)
|
rs150931608
|
0.00004
|
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=)
|
rs142857608
|
0.00004
|
NM_000393.5(COL5A2):c.4453A>C (p.Thr1485Pro)
|
rs11553463
|
0.00004
|
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)
|
rs371225266
|
0.00004
|
NM_000393.5(COL5A2):c.567+7T>C
|
rs755666206
|
0.00004
|
NM_000393.5(COL5A2):c.744+18A>G
|
rs373820975
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_000393.5(COL5A2):c.907-5C>A
|
rs756538217
|
0.00004
|
NM_001128225.3(SLC39A13):c.1041-15G>A
|
rs762412348
|
0.00004
|
NM_001128225.3(SLC39A13):c.132G>A (p.Thr44=)
|
rs201425631
|
0.00004
|
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=)
|
rs753665968
|
0.00004
|
NM_001128225.3(SLC39A13):c.336C>T (p.Phe112=)
|
rs751302246
|
0.00004
|
NM_001128225.3(SLC39A13):c.381C>T (p.Pro127=)
|
rs780281875
|
0.00004
|
NM_001128225.3(SLC39A13):c.432C>T (p.Ser144=)
|
rs755503604
|
0.00004
|
NM_001128225.3(SLC39A13):c.570C>T (p.Ala190=)
|
rs767677018
|
0.00004
|
NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=)
|
rs752707598
|
0.00004
|
NM_001128225.3(SLC39A13):c.919+7G>A
|
rs752106866
|
0.00004
|
NM_001128225.3(SLC39A13):c.919+9G>A
|
rs767725133
|
0.00004
|
NM_001128225.3(SLC39A13):c.933C>T (p.Pro311=)
|
rs374590960
|
0.00004
|
NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr)
|
rs749499150
|
0.00004
|
NM_001128225.3(SLC39A13):c.972C>T (p.Thr324=)
|
rs774905397
|
0.00004
|
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser)
|
rs370379561
|
0.00004
|
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)
|
rs757252832
|
0.00004
|
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=)
|
rs371148798
|
0.00004
|
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)
|
rs756803766
|
0.00004
|
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val)
|
rs369924790
|
0.00004
|
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)
|
rs774882851
|
0.00004
|
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=)
|
rs746946822
|
0.00004
|
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=)
|
rs776302292
|
0.00004
|
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)
|
rs370256196
|
0.00004
|
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=)
|
rs1013417237
|
0.00004
|
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)
|
rs201662983
|
0.00004
|
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
|
rs572007088
|
0.00004
|
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=)
|
rs191863996
|
0.00004
|
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly)
|
rs1180402350
|
0.00004
|
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=)
|
rs372499120
|
0.00004
|
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr)
|
rs746982506
|
0.00004
|
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=)
|
rs368940290
|
0.00004
|
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His)
|
rs79863717
|
0.00004
|
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala)
|
rs375221786
|
0.00004
|
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=)
|
rs371282637
|
0.00004
|
NM_004370.6(COL12A1):c.456A>G (p.Gly152=)
|
rs761930862
|
0.00004
|
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp)
|
rs370360673
|
0.00004
|
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)
|
rs180718181
|
0.00004
|
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)
|
rs771078518
|
0.00004
|
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met)
|
rs749368197
|
0.00004
|
NM_004370.6(COL12A1):c.5098-13C>T
|
rs186255379
|
0.00004
|
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser)
|
rs201810535
|
0.00004
|
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)
|
rs373020081
|
0.00004
|
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val)
|
rs753254039
|
0.00004
|
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)
|
rs371016672
|
0.00004
|
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=)
|
rs1479706901
|
0.00004
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile)
|
rs757737726
|
0.00004
|
NM_004370.6(COL12A1):c.546T>C (p.Val182=)
|
rs764254293
|
0.00004
|
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=)
|
rs747217911
|
0.00004
|
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys)
|
rs201372309
|
0.00004
|
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)
|
rs775862147
|
0.00004
|
NM_004370.6(COL12A1):c.588G>A (p.Gln196=)
|
rs748928908
|
0.00004
|
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=)
|
rs376241836
|
0.00004
|
NM_004370.6(COL12A1):c.633A>G (p.Pro211=)
|
rs541648868
|
0.00004
|
NM_004370.6(COL12A1):c.6607+8A>G
|
rs781751102
|
0.00004
|
NM_004370.6(COL12A1):c.6608-4G>A
|
rs374995108
|
0.00004
|
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg)
|
rs1053454286
|
0.00004
|
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val)
|
rs752850582
|
0.00004
|
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)
|
rs368686970
|
0.00004
|
NM_004370.6(COL12A1):c.7005G>C (p.Gly2335=)
|
rs760111437
|
0.00004
|
NM_004370.6(COL12A1):c.7086+14C>T
|
rs778933089
|
0.00004
|
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=)
|
rs754178898
|
0.00004
|
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)
|
rs183898615
|
0.00004
|
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)
|
rs202109365
|
0.00004
|
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr)
|
rs757556640
|
0.00004
|
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
|
rs778155362
|
0.00004
|
NM_004370.6(COL12A1):c.7950+20T>G
|
rs752468536
|
0.00004
|
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=)
|
rs187901672
|
0.00004
|
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=)
|
rs761216954
|
0.00004
|
NM_004370.6(COL12A1):c.8469+10T>C
|
rs375332527
|
0.00004
|
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)
|
rs369360559
|
0.00004
|
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)
|
rs751638930
|
0.00004
|
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
|
rs746453262
|
0.00004
|
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=)
|
rs780427259
|
0.00004
|
NM_007255.3(B4GALT7):c.51-13G>A
|
rs1405020049
|
0.00004
|
NM_007255.3(B4GALT7):c.603C>T (p.Gly201=)
|
rs374198956
|
0.00004
|
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys)
|
rs201489289
|
0.00004
|
NM_013352.4(DSE):c.120C>T (p.Tyr40=)
|
rs75392879
|
0.00004
|
NM_013352.4(DSE):c.1737C>T (p.Pro579=)
|
rs765462761
|
0.00004
|
NM_013352.4(DSE):c.730C>T (p.Leu244=)
|
rs1041865456
|
0.00004
|
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)
|
rs1402048390
|
0.00004
|
NM_014244.5(ADAMTS2):c.1062G>A (p.Thr354=)
|
rs745324060
|
0.00004
|
NM_014244.5(ADAMTS2):c.1254C>T (p.His418=)
|
rs758041605
|
0.00004
|
NM_014244.5(ADAMTS2):c.1383-8C>T
|
rs748944006
|
0.00004
|
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)
|
rs142275705
|
0.00004
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=)
|
rs372661052
|
0.00004
|
NM_014244.5(ADAMTS2):c.2403C>T (p.Asp801=)
|
rs374315892
|
0.00004
|
NM_014244.5(ADAMTS2):c.2618-18C>T
|
rs753080133
|
0.00004
|
NM_014244.5(ADAMTS2):c.2628C>T (p.Phe876=)
|
rs371021469
|
0.00004
|
NM_014244.5(ADAMTS2):c.2697G>A (p.Ser899=)
|
rs570418931
|
0.00004
|
NM_014244.5(ADAMTS2):c.2751-15G>A
|
rs376602983
|
0.00004
|
NM_014244.5(ADAMTS2):c.2959-12C>G
|
rs773920252
|
0.00004
|
NM_014244.5(ADAMTS2):c.3027C>T (p.Phe1009=)
|
rs766033559
|
0.00004
|
NM_014244.5(ADAMTS2):c.3345C>T (p.Asp1115=)
|
rs375463371
|
0.00004
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
NM_014244.5(ADAMTS2):c.846C>T (p.His282=)
|
rs150860515
|
0.00004
|
NM_014244.5(ADAMTS2):c.960C>T (p.Leu320=)
|
rs147007079
|
0.00004
|
NM_014244.5(ADAMTS2):c.976-10C>A
|
rs973000351
|
0.00004
|
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=)
|
rs928368471
|
0.00004
|
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=)
|
rs547484259
|
0.00004
|
NM_130468.4(CHST14):c.111G>C (p.Pro37=)
|
rs746603977
|
0.00004
|
NM_130468.4(CHST14):c.315G>A (p.Arg105=)
|
rs903042632
|
0.00004
|
NM_130468.4(CHST14):c.891C>G (p.Gly297=)
|
rs772809123
|
0.00004
|
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)
|
rs550867796
|
0.00003
|
NM_000089.4(COL1A2):c.1422C>T (p.Asp474=)
|
rs766360064
|
0.00003
|
NM_000089.4(COL1A2):c.150A>C (p.Pro50=)
|
rs369695645
|
0.00003
|
NM_000089.4(COL1A2):c.2403+7A>G
|
rs751913918
|
0.00003
|
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)
|
rs751960243
|
0.00003
|
NM_000089.4(COL1A2):c.2943+20T>C
|
rs777594155
|
0.00003
|
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His)
|
rs530026906
|
0.00003
|
NM_000089.4(COL1A2):c.3526+10G>T
|
rs779375338
|
0.00003
|
NM_000089.4(COL1A2):c.3712-11A>G
|
rs748154668
|
0.00003
|
NM_000089.4(COL1A2):c.81+10A>G
|
rs750283092
|
0.00003
|
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=)
|
rs778702019
|
0.00003
|
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=)
|
rs946270867
|
0.00003
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
NM_000090.4(COL3A1):c.2274T>C (p.Asp758=)
|
rs1060503872
|
0.00003
|
NM_000090.4(COL3A1):c.2446-10T>C
|
rs1060500195
|
0.00003
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
NM_000090.4(COL3A1):c.2608-19A>C
|
rs372917900
|
0.00003
|
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=)
|
rs1057524521
|
0.00003
|
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)
|
rs369992399
|
0.00003
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
NM_000090.4(COL3A1):c.39C>T (p.Leu13=)
|
rs1343634872
|
0.00003
|
NM_000090.4(COL3A1):c.447+13C>T
|
rs751726448
|
0.00003
|
NM_000090.4(COL3A1):c.708C>T (p.Pro236=)
|
rs775390389
|
0.00003
|
NM_000090.4(COL3A1):c.853-7T>C
|
rs377063305
|
0.00003
|
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)
|
rs762108965
|
0.00003
|
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=)
|
rs373846823
|
0.00003
|
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=)
|
rs529255491
|
0.00003
|
NM_000093.5(COL5A1):c.1827+11C>T
|
rs374795810
|
0.00003
|
NM_000093.5(COL5A1):c.192G>A (p.Thr64=)
|
rs746717050
|
0.00003
|
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=)
|
rs186098435
|
0.00003
|
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu)
|
rs779540528
|
0.00003
|
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)
|
rs575535171
|
0.00003
|
NM_000093.5(COL5A1):c.2386-6G>A
|
rs373383768
|
0.00003
|
NM_000093.5(COL5A1):c.2430+7C>A
|
rs569413440
|
0.00003
|
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys)
|
rs762336160
|
0.00003
|
NM_000093.5(COL5A1):c.2706C>T (p.Thr902=)
|
rs781027757
|
0.00003
|
NM_000093.5(COL5A1):c.2899-13G>T
|
rs761096695
|
0.00003
|
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)
|
rs760754491
|
0.00003
|
NM_000093.5(COL5A1):c.3529-4G>A
|
rs779064113
|
0.00003
|
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=)
|
rs766961124
|
0.00003
|
NM_000093.5(COL5A1):c.3745-17T>C
|
rs376808101
|
0.00003
|
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=)
|
rs1233949819
|
0.00003
|
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=)
|
rs773909152
|
0.00003
|
NM_000093.5(COL5A1):c.4069-16G>A
|
rs201267375
|
0.00003
|
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=)
|
rs759256816
|
0.00003
|
NM_000093.5(COL5A1):c.4392+8A>G
|
rs764596365
|
0.00003
|
NM_000093.5(COL5A1):c.4719C>T (p.Ile1573=)
|
rs966533667
|
0.00003
|
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=)
|
rs183904215
|
0.00003
|
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=)
|
rs760426595
|
0.00003
|
NM_000093.5(COL5A1):c.513C>T (p.Ser171=)
|
rs754997436
|
0.00003
|
NM_000093.5(COL5A1):c.5262C>T (p.Asp1754=)
|
rs771317760
|
0.00003
|
NM_000093.5(COL5A1):c.5371-15C>T
|
rs369764872
|
0.00003
|
NM_000093.5(COL5A1):c.603C>T (p.Ile201=)
|
rs747624923
|
0.00003
|
NM_000093.5(COL5A1):c.615C>A (p.Ile205=)
|
rs201286195
|
0.00003
|
NM_000093.5(COL5A1):c.654+11G>A
|
rs750385038
|
0.00003
|
NM_000093.5(COL5A1):c.735C>T (p.Asp245=)
|
rs746769184
|
0.00003
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
NM_000302.4(PLOD1):c.1110G>A (p.Arg370=)
|
rs148644646
|
0.00003
|
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=)
|
rs771685198
|
0.00003
|
NM_000302.4(PLOD1):c.1194A>G (p.Gln398=)
|
rs755978483
|
0.00003
|
NM_000302.4(PLOD1):c.1197G>A (p.Gln399=)
|
rs753853335
|
0.00003
|
NM_000302.4(PLOD1):c.1293C>T (p.Ser431=)
|
rs776976856
|
0.00003
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.336G>A (p.Glu112=)
|
rs746999816
|
0.00003
|
NM_000302.4(PLOD1):c.684G>A (p.Ala228=)
|
rs183225496
|
0.00003
|
NM_000302.4(PLOD1):c.774G>A (p.Pro258=)
|
rs753994916
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000393.5(COL5A2):c.1006-8G>A
|
rs200405052
|
0.00003
|
NM_000393.5(COL5A2):c.1059+8T>C
|
rs200968159
|
0.00003
|
NM_000393.5(COL5A2):c.1159-7C>A
|
rs377321742
|
0.00003
|
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr)
|
rs746339285
|
0.00003
|
NM_000393.5(COL5A2):c.1869+17A>G
|
rs776780834
|
0.00003
|
NM_000393.5(COL5A2):c.1923+11A>G
|
rs368776400
|
0.00003
|
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys)
|
rs201961021
|
0.00003
|
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
|
rs267599127
|
0.00003
|
NM_000393.5(COL5A2):c.3148-15C>T
|
rs901541312
|
0.00003
|
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu)
|
rs753383064
|
0.00003
|
NM_000393.5(COL5A2):c.3717C>T (p.His1239=)
|
rs769790821
|
0.00003
|
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=)
|
rs767144730
|
0.00003
|
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)
|
rs747653593
|
0.00003
|
NM_000393.5(COL5A2):c.399G>A (p.Pro133=)
|
rs369867930
|
0.00003
|
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser)
|
rs145755198
|
0.00003
|
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)
|
rs1436390158
|
0.00003
|
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)
|
rs762653511
|
0.00003
|
NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr)
|
rs753194366
|
0.00003
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
NM_000393.5(COL5A2):c.537G>A (p.Pro179=)
|
rs762891893
|
0.00003
|
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr)
|
rs758156613
|
0.00003
|
NM_000393.5(COL5A2):c.691-4G>A
|
rs767803370
|
0.00003
|
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr)
|
rs148005959
|
0.00003
|
NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=)
|
rs768720700
|
0.00003
|
NM_001128225.3(SLC39A13):c.405C>T (p.Ser135=)
|
rs371063274
|
0.00003
|
NM_001128225.3(SLC39A13):c.627C>T (p.Ala209=)
|
rs768982611
|
0.00003
|
NM_001128225.3(SLC39A13):c.736-18C>T
|
rs761758087
|
0.00003
|
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)
|
rs202175607
|
0.00003
|
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr)
|
rs201085951
|
0.00003
|
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His)
|
rs775010013
|
0.00003
|
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=)
|
rs780442166
|
0.00003
|
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
|
rs1235556906
|
0.00003
|
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=)
|
rs1318149393
|
0.00003
|
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=)
|
rs780620827
|
0.00003
|
NM_004370.6(COL12A1):c.2165-8T>C
|
rs909913796
|
0.00003
|
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln)
|
rs377480187
|
0.00003
|
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile)
|
rs375704787
|
0.00003
|
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg)
|
rs1357325121
|
0.00003
|
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg)
|
rs762817385
|
0.00003
|
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)
|
rs373637483
|
0.00003
|
NM_004370.6(COL12A1):c.3566-8C>A
|
rs201709757
|
0.00003
|
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn)
|
rs767422633
|
0.00003
|
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)
|
rs774035582
|
0.00003
|
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys)
|
rs978290681
|
0.00003
|
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
|
rs200125060
|
0.00003
|
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu)
|
rs773936793
|
0.00003
|
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly)
|
rs201651899
|
0.00003
|
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)
|
rs751419788
|
0.00003
|
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
|
rs373216375
|
0.00003
|
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)
|
rs373826197
|
0.00003
|
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)
|
rs373006852
|
0.00003
|
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys)
|
rs780206104
|
0.00003
|
NM_004370.6(COL12A1):c.492T>C (p.Ala164=)
|
rs748734386
|
0.00003
|
NM_004370.6(COL12A1):c.5394+10T>A
|
rs890398079
|
0.00003
|
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=)
|
rs372356221
|
0.00003
|
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)
|
rs565471668
|
0.00003
|
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile)
|
rs778672810
|
0.00003
|
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His)
|
rs751986784
|
0.00003
|
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=)
|
rs199632288
|
0.00003
|
NM_004370.6(COL12A1):c.6141T>C (p.His2047=)
|
rs773648194
|
0.00003
|
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr)
|
rs755180015
|
0.00003
|
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu)
|
rs771019349
|
0.00003
|
NM_004370.6(COL12A1):c.6947-6T>C
|
rs200538799
|
0.00003
|
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=)
|
rs373585140
|
0.00003
|
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=)
|
rs368616942
|
0.00003
|
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser)
|
rs766046177
|
0.00003
|
NM_004370.6(COL12A1):c.8578-4G>A
|
rs780000164
|
0.00003
|
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=)
|
rs751804493
|
0.00003
|
NM_004370.6(COL12A1):c.8686-5A>T
|
rs749754621
|
0.00003
|
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=)
|
rs768543325
|
0.00003
|
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)
|
rs375094592
|
0.00003
|
NM_007255.3(B4GALT7):c.273C>T (p.Gly91=)
|
rs375667092
|
0.00003
|
NM_007255.3(B4GALT7):c.517C>T (p.Leu173=)
|
rs373068387
|
0.00003
|
NM_007255.3(B4GALT7):c.829-14C>G
|
rs199973542
|
0.00003
|
NM_013352.4(DSE):c.1140G>A (p.Ser380=)
|
rs756171586
|
0.00003
|
NM_013352.4(DSE):c.136C>T (p.Leu46=)
|
rs754023509
|
0.00003
|
NM_013352.4(DSE):c.753G>A (p.Thr251=)
|
rs769250716
|
0.00003
|
NM_014244.5(ADAMTS2):c.1185C>T (p.Asn395=)
|
rs779543980
|
0.00003
|
NM_014244.5(ADAMTS2):c.1323C>T (p.Ala441=)
|
rs781602081
|
0.00003
|
NM_014244.5(ADAMTS2):c.1641A>G (p.Lys547=)
|
rs776592829
|
0.00003
|
NM_014244.5(ADAMTS2):c.1902C>T (p.Phe634=)
|
rs769205569
|
0.00003
|
NM_014244.5(ADAMTS2):c.2034G>A (p.Thr678=)
|
rs139943837
|
0.00003
|
NM_014244.5(ADAMTS2):c.2451C>T (p.Thr817=)
|
rs138564815
|
0.00003
|
NM_014244.5(ADAMTS2):c.2618-20G>A
|
rs756658312
|
0.00003
|
NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=)
|
rs373304304
|
0.00003
|
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=)
|
rs768390657
|
0.00003
|
NM_014244.5(ADAMTS2):c.2943C>T (p.Ala981=)
|
rs139382256
|
0.00003
|
NM_014244.5(ADAMTS2):c.3045G>A (p.Glu1015=)
|
rs776489447
|
0.00003
|
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=)
|
rs766731589
|
0.00003
|
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=)
|
rs761444202
|
0.00003
|
NM_014244.5(ADAMTS2):c.891+9G>A
|
rs749508251
|
0.00003
|
NM_014244.5(ADAMTS2):c.976-8C>T
|
rs745799902
|
0.00003
|
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=)
|
rs1204837935
|
0.00003
|
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=)
|
rs963500907
|
0.00003
|
NM_080605.4(B3GALT6):c.576C>T (p.Val192=)
|
rs762952410
|
0.00003
|
NM_000089.4(COL1A2):c.1036-10T>C
|
rs1363231522
|
0.00002
|
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)
|
rs753455668
|
0.00002
|
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=)
|
rs768981392
|
0.00002
|
NM_000089.4(COL1A2):c.2382G>A (p.Arg794=)
|
rs754562962
|
0.00002
|
NM_000089.4(COL1A2):c.2673+10T>A
|
rs747098214
|
0.00002
|
NM_000089.4(COL1A2):c.2782-20T>C
|
rs369687449
|
0.00002
|
NM_000089.4(COL1A2):c.280-8C>T
|
rs371996944
|
0.00002
|
NM_000089.4(COL1A2):c.3108T>C (p.Gly1036=)
|
rs768992682
|
0.00002
|
NM_000089.4(COL1A2):c.3261C>T (p.Gly1087=)
|
rs142518265
|
0.00002
|
NM_000089.4(COL1A2):c.3852C>A (p.Gly1284=)
|
rs663
|
0.00002
|
NM_000089.4(COL1A2):c.639+20T>C
|
rs771890345
|
0.00002
|
NM_000089.4(COL1A2):c.657T>G (p.Pro219=)
|
rs771837515
|
0.00002
|
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr)
|
rs375401215
|
0.00002
|
NM_000089.4(COL1A2):c.693+7G>T
|
rs759896464
|
0.00002
|
NM_000089.4(COL1A2):c.694-19C>T
|
rs758082806
|
0.00002
|
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=)
|
rs373392096
|
0.00002
|
NM_000090.4(COL3A1):c.1464T>C (p.Pro488=)
|
rs377706172
|
0.00002
|
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)
|
rs759650260
|
0.00002
|
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=)
|
rs1373257114
|
0.00002
|
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=)
|
rs141128796
|
0.00002
|
NM_000090.4(COL3A1):c.186C>T (p.Cys62=)
|
rs764749176
|
0.00002
|
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=)
|
rs746947080
|
0.00002
|
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=)
|
rs772997837
|
0.00002
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=)
|
rs886038982
|
0.00002
|
NM_000090.4(COL3A1):c.2608-10C>T
|
rs1217009146
|
0.00002
|
NM_000090.4(COL3A1):c.2823+20T>A
|
rs577105300
|
0.00002
|
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=)
|
rs41264441
|
0.00002
|
NM_000090.4(COL3A1):c.300T>C (p.Asn100=)
|
rs776373729
|
0.00002
|
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=)
|
rs151192026
|
0.00002
|
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=)
|
rs778417073
|
0.00002
|
NM_000090.4(COL3A1):c.3411C>T (p.Gly1137=)
|
rs776330422
|
0.00002
|
NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=)
|
rs776077444
|
0.00002
|
NM_000090.4(COL3A1):c.3526-16G>A
|
rs373856456
|
0.00002
|
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val)
|
rs148387626
|
0.00002
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=)
|
rs113753099
|
0.00002
|
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=)
|
rs758221289
|
0.00002
|
NM_000090.4(COL3A1):c.432C>T (p.Cys144=)
|
rs539430522
|
0.00002
|
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=)
|
rs376207711
|
0.00002
|
NM_000090.4(COL3A1):c.4341T>C (p.Tyr1447=)
|
rs773400185
|
0.00002
|
NM_000090.4(COL3A1):c.528+9A>T
|
rs746532251
|
0.00002
|
NM_000090.4(COL3A1):c.582+12C>T
|
rs41272799
|
0.00002
|
NM_000090.4(COL3A1):c.690+15C>T
|
rs374426800
|
0.00002
|
NM_000090.4(COL3A1):c.691-8C>G
|
rs749433733
|
0.00002
|
NM_000090.4(COL3A1):c.696A>G (p.Glu232=)
|
rs193922177
|
0.00002
|
NM_000090.4(COL3A1):c.804C>T (p.Phe268=)
|
rs267599121
|
0.00002
|
NM_000090.4(COL3A1):c.969C>T (p.Asp323=)
|
rs779278835
|
0.00002
|
NM_000093.5(COL5A1):c.1122C>T (p.Ala374=)
|
rs758640551
|
0.00002
|
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=)
|
rs745575705
|
0.00002
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
NM_000093.5(COL5A1):c.1332+20C>T
|
rs935688642
|
0.00002
|
NM_000093.5(COL5A1):c.1431+10C>T
|
rs1176378428
|
0.00002
|
NM_000093.5(COL5A1):c.1431+11G>A
|
rs768116740
|
0.00002
|
NM_000093.5(COL5A1):c.1508G>A (p.Arg503His)
|
rs146716315
|
0.00002
|
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)
|
rs375762619
|
0.00002
|
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=)
|
rs148094039
|
0.00002
|
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=)
|
rs761257919
|
0.00002
|
NM_000093.5(COL5A1):c.1827+16G>A
|
rs745897562
|
0.00002
|
NM_000093.5(COL5A1):c.1882-20C>G
|
rs774254944
|
0.00002
|
NM_000093.5(COL5A1):c.1899C>T (p.Asp633=)
|
rs757951119
|
0.00002
|
NM_000093.5(COL5A1):c.2088+15C>T
|
rs896840592
|
0.00002
|
NM_000093.5(COL5A1):c.2133+18C>T
|
rs751486483
|
0.00002
|
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile)
|
rs148793863
|
0.00002
|
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=)
|
rs373285312
|
0.00002
|
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=)
|
rs763634004
|
0.00002
|
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=)
|
rs767014646
|
0.00002
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
NM_000093.5(COL5A1):c.2646+18T>A
|
rs754790166
|
0.00002
|
NM_000093.5(COL5A1):c.2694C>T (p.Gly898=)
|
rs139394549
|
0.00002
|
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu)
|
rs780406577
|
0.00002
|
NM_000093.5(COL5A1):c.2715G>A (p.Lys905=)
|
rs533217850
|
0.00002
|
NM_000093.5(COL5A1):c.2808C>T (p.Ser936=)
|
rs142849628
|
0.00002
|
NM_000093.5(COL5A1):c.2895C>G (p.Pro965=)
|
rs765189446
|
0.00002
|
NM_000093.5(COL5A1):c.2952+9C>T
|
rs955068180
|
0.00002
|
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)
|
rs780601499
|
0.00002
|
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His)
|
rs754184016
|
0.00002
|
NM_000093.5(COL5A1):c.3258+7C>A
|
rs750710374
|
0.00002
|
NM_000093.5(COL5A1):c.3366+18T>C
|
rs751538872
|
0.00002
|
NM_000093.5(COL5A1):c.3483C>T (p.Ile1161=)
|
rs576483507
|
0.00002
|
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=)
|
rs748000980
|
0.00002
|
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=)
|
rs377422775
|
0.00002
|
NM_000093.5(COL5A1):c.3774A>G (p.Gly1258=)
|
rs938941709
|
0.00002
|
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)
|
rs762625123
|
0.00002
|
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser)
|
rs769814019
|
0.00002
|
NM_000093.5(COL5A1):c.3906+7G>A
|
rs200333878
|
0.00002
|
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=)
|
rs1057524173
|
0.00002
|
NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=)
|
rs951777673
|
0.00002
|
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=)
|
rs145101509
|
0.00002
|
NM_000093.5(COL5A1):c.420C>T (p.Tyr140=)
|
rs540553997
|
0.00002
|
NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln)
|
rs758650140
|
0.00002
|
NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr)
|
rs773125713
|
0.00002
|
NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu)
|
rs773728118
|
0.00002
|
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His)
|
rs373653069
|
0.00002
|
NM_000093.5(COL5A1):c.4608+19C>T
|
rs200797820
|
0.00002
|
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)
|
rs863223460
|
0.00002
|
NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu)
|
rs780846555
|
0.00002
|
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=)
|
rs370009851
|
0.00002
|
NM_000093.5(COL5A1):c.4940C>T (p.Pro1647Leu)
|
rs140669047
|
0.00002
|
NM_000093.5(COL5A1):c.4955-13C>T
|
rs770897242
|
0.00002
|
NM_000093.5(COL5A1):c.5029G>A (p.Gly1677Arg)
|
rs768184058
|
0.00002
|
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=)
|
rs371875408
|
0.00002
|
NM_000093.5(COL5A1):c.5193G>A (p.Leu1731=)
|
rs751537287
|
0.00002
|
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)
|
rs747231282
|
0.00002
|
NM_000093.5(COL5A1):c.526A>C (p.Asn176His)
|
rs369396868
|
0.00002
|
NM_000093.5(COL5A1):c.5281G>A (p.Asp1761Asn)
|
rs773055539
|
0.00002
|
NM_000093.5(COL5A1):c.528T>C (p.Asn176=)
|
rs769674770
|
0.00002
|
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=)
|
rs764817290
|
0.00002
|
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)
|
rs746104317
|
0.00002
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=)
|
rs140744620
|
0.00002
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=)
|
rs768460206
|
0.00002
|
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)
|
rs761259908
|
0.00002
|
NM_000093.5(COL5A1):c.655-16G>A
|
rs371301230
|
0.00002
|
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=)
|
rs755056846
|
0.00002
|
NM_000302.4(PLOD1):c.1202+7C>T
|
rs1264171984
|
0.00002
|
NM_000302.4(PLOD1):c.1554C>T (p.Asn518=)
|
rs759491848
|
0.00002
|
NM_000302.4(PLOD1):c.1651-10C>T
|
rs755961387
|
0.00002
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
NM_000302.4(PLOD1):c.2013C>T (p.Val671=)
|
rs541261242
|
0.00002
|
NM_000302.4(PLOD1):c.466+12G>T
|
rs774213935
|
0.00002
|
NM_000302.4(PLOD1):c.570G>A (p.Pro190=)
|
rs776173072
|
0.00002
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
NM_000302.4(PLOD1):c.834G>A (p.Lys278=)
|
rs557353959
|
0.00002
|
NM_000302.4(PLOD1):c.861G>A (p.Thr287=)
|
rs747570972
|
0.00002
|
NM_000302.4(PLOD1):c.882C>T (p.Ile294=)
|
rs747668784
|
0.00002
|
NM_000302.4(PLOD1):c.939C>T (p.Tyr313=)
|
rs1411565422
|
0.00002
|
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr)
|
rs200839338
|
0.00002
|
NM_000393.5(COL5A2):c.1564-8A>T
|
rs776187028
|
0.00002
|
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser)
|
rs200205564
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.1716+13C>G
|
rs779517028
|
0.00002
|
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=)
|
rs765364009
|
0.00002
|
NM_000393.5(COL5A2):c.2446-17T>G
|
rs774566945
|
0.00002
|
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=)
|
rs375877757
|
0.00002
|
NM_000393.5(COL5A2):c.2662-13T>G
|
rs764874823
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=)
|
rs1060504380
|
0.00002
|
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser)
|
rs909634945
|
0.00002
|
NM_000393.5(COL5A2):c.3040-8T>C
|
rs886055355
|
0.00002
|
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser)
|
rs773168254
|
0.00002
|
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val)
|
rs766499543
|
0.00002
|
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)
|
rs748601646
|
0.00002
|
NM_000393.5(COL5A2):c.3363+18G>T
|
rs1465568437
|
0.00002
|
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)
|
rs144890303
|
0.00002
|
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser)
|
rs780899667
|
0.00002
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
NM_000393.5(COL5A2):c.3792G>A (p.Thr1264=)
|
rs773058827
|
0.00002
|
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly)
|
rs555111281
|
0.00002
|
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys)
|
rs1247714244
|
0.00002
|
NM_000393.5(COL5A2):c.4114-14C>G
|
rs777751790
|
0.00002
|
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=)
|
rs965891508
|
0.00002
|
NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn)
|
rs550723518
|
0.00002
|
NM_000393.5(COL5A2):c.44T>C (p.Ile15Thr)
|
rs369394572
|
0.00002
|
NM_000393.5(COL5A2):c.568-11C>T
|
rs375129913
|
0.00002
|
NM_000393.5(COL5A2):c.799-6A>G
|
rs111586240
|
0.00002
|
NM_001128225.3(SLC39A13):c.1041-5C>G
|
rs765891564
|
0.00002
|
NM_001128225.3(SLC39A13):c.302-7C>G
|
rs746687344
|
0.00002
|
NM_001128225.3(SLC39A13):c.615C>T (p.Pro205=)
|
rs147495812
|
0.00002
|
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=)
|
rs762829962
|
0.00002
|
NM_004370.6(COL12A1):c.1023T>C (p.Ile341=)
|
rs747827698
|
0.00002
|
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe)
|
rs565496900
|
0.00002
|
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile)
|
rs759237307
|
0.00002
|
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=)
|
rs560103397
|
0.00002
|
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=)
|
rs781239880
|
0.00002
|
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)
|
rs764727126
|
0.00002
|
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=)
|
rs201511621
|
0.00002
|
NM_004370.6(COL12A1):c.191-11T>C
|
rs765124645
|
0.00002
|
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)
|
rs764241362
|
0.00002
|
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)
|
rs755046298
|
0.00002
|
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=)
|
rs1039108581
|
0.00002
|
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser)
|
rs752941721
|
0.00002
|
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile)
|
rs746079159
|
0.00002
|
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=)
|
rs776558080
|
0.00002
|
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=)
|
rs201021998
|
0.00002
|
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
|
rs770324764
|
0.00002
|
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)
|
rs761818931
|
0.00002
|
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
|
rs373583477
|
0.00002
|
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=)
|
rs747852589
|
0.00002
|
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=)
|
rs765497889
|
0.00002
|
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)
|
rs752812483
|
0.00002
|
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=)
|
rs1424598359
|
0.00002
|
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu)
|
rs374540275
|
0.00002
|
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=)
|
rs765327402
|
0.00002
|
NM_004370.6(COL12A1):c.3836-19C>G
|
rs762897672
|
0.00002
|
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)
|
rs191757914
|
0.00002
|
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val)
|
rs749722543
|
0.00002
|
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys)
|
rs780568012
|
0.00002
|
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr)
|
rs778970645
|
0.00002
|
NM_004370.6(COL12A1):c.4148-4G>A
|
rs146899194
|
0.00002
|
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln)
|
rs769711983
|
0.00002
|
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
|
rs1033545876
|
0.00002
|
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=)
|
rs765983584
|
0.00002
|
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
|
rs1453508139
|
0.00002
|
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)
|
rs771110521
|
0.00002
|
NM_004370.6(COL12A1):c.465T>C (p.Asn155=)
|
rs777308349
|
0.00002
|
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)
|
rs772069524
|
0.00002
|
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=)
|
rs369793258
|
0.00002
|
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser)
|
rs757815790
|
0.00002
|
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=)
|
rs1262898971
|
0.00002
|
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu)
|
rs779002973
|
0.00002
|
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys)
|
rs368481619
|
0.00002
|
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)
|
rs767343975
|
0.00002
|
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)
|
rs752550335
|
0.00002
|
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu)
|
rs776561287
|
0.00002
|
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=)
|
rs570972516
|
0.00002
|
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=)
|
rs1249793538
|
0.00002
|
NM_004370.6(COL12A1):c.5524+16G>C
|
rs755749812
|
0.00002
|
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=)
|
rs768333048
|
0.00002
|
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=)
|
rs774390819
|
0.00002
|
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met)
|
rs750550229
|
0.00002
|
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg)
|
rs764600940
|
0.00002
|
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=)
|
rs779833436
|
0.00002
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
NM_004370.6(COL12A1):c.5937+13G>T
|
rs769986889
|
0.00002
|
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=)
|
rs200777154
|
0.00002
|
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val)
|
rs376192452
|
0.00002
|
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu)
|
rs769755656
|
0.00002
|
NM_004370.6(COL12A1):c.6460+20A>G
|
rs751297089
|
0.00002
|
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=)
|
rs1442019750
|
0.00002
|
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=)
|
rs1384590633
|
0.00002
|
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
|
rs758186176
|
0.00002
|
NM_004370.6(COL12A1):c.7087-14A>G
|
rs779399089
|
0.00002
|
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=)
|
rs1344927209
|
0.00002
|
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=)
|
rs777334909
|
0.00002
|
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)
|
rs199633490
|
0.00002
|
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=)
|
rs755597191
|
0.00002
|
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=)
|
rs1768550709
|
0.00002
|
NM_004370.6(COL12A1):c.823+10G>A
|
rs1233608917
|
0.00002
|
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=)
|
rs555905349
|
0.00002
|
NM_004370.6(COL12A1):c.8523+11T>C
|
rs370728186
|
0.00002
|
NM_004370.6(COL12A1):c.8523+16C>T
|
rs751486526
|
0.00002
|
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)
|
rs1226171594
|
0.00002
|
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=)
|
rs372700355
|
0.00002
|
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln)
|
rs759065663
|
0.00002
|
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=)
|
rs749317169
|
0.00002
|
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala)
|
rs778365596
|
0.00002
|
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=)
|
rs767339128
|
0.00002
|
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=)
|
rs372365979
|
0.00002
|
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)
|
rs757075255
|
0.00002
|
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=)
|
rs374037516
|
0.00002
|
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln)
|
rs749005420
|
0.00002
|
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg)
|
rs762612450
|
0.00002
|
NM_007255.3(B4GALT7):c.136C>T (p.Leu46=)
|
rs748963969
|
0.00002
|
NM_007255.3(B4GALT7):c.468G>A (p.Thr156=)
|
rs775059052
|
0.00002
|
NM_013352.4(DSE):c.189G>A (p.Ser63=)
|
rs953029145
|
0.00002
|
NM_013352.4(DSE):c.2184G>A (p.Lys728=)
|
rs150939596
|
0.00002
|
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)
|
rs199731077
|
0.00002
|
NM_013352.4(DSE):c.2661A>G (p.Thr887=)
|
rs762839207
|
0.00002
|
NM_013352.4(DSE):c.2850C>T (p.Tyr950=)
|
rs751986225
|
0.00002
|
NM_013352.4(DSE):c.780G>A (p.Ala260=)
|
rs765697282
|
0.00002
|
NM_014244.5(ADAMTS2):c.1080C>T (p.His360=)
|
rs777406209
|
0.00002
|
NM_014244.5(ADAMTS2):c.1086C>T (p.His362=)
|
rs140784888
|
0.00002
|
NM_014244.5(ADAMTS2):c.1382+20C>A
|
rs1057524448
|
0.00002
|
NM_014244.5(ADAMTS2):c.140-7G>T
|
rs759954552
|
0.00002
|
NM_014244.5(ADAMTS2):c.1632T>C (p.His544=)
|
rs1343776477
|
0.00002
|
NM_014244.5(ADAMTS2):c.1707G>A (p.Pro569=)
|
rs749970172
|
0.00002
|
NM_014244.5(ADAMTS2):c.2025T>C (p.His675=)
|
rs769344433
|
0.00002
|
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)
|
rs150587776
|
0.00002
|
NM_014244.5(ADAMTS2):c.2184G>A (p.Thr728=)
|
rs770111550
|
0.00002
|
NM_014244.5(ADAMTS2):c.2343G>A (p.Val781=)
|
rs774384325
|
0.00002
|
NM_014244.5(ADAMTS2):c.237G>A (p.Thr79=)
|
rs753133442
|
0.00002
|
NM_014244.5(ADAMTS2):c.2397C>T (p.Asp799=)
|
rs753746822
|
0.00002
|
NM_014244.5(ADAMTS2):c.241A>C (p.Arg81=)
|
rs936171876
|
0.00002
|
NM_014244.5(ADAMTS2):c.2592T>G (p.Ser864=)
|
rs776605625
|
0.00002
|
NM_014244.5(ADAMTS2):c.2751-5G>C
|
rs751090751
|
0.00002
|
NM_014244.5(ADAMTS2):c.3009C>G (p.Arg1003=)
|
rs1294025373
|
0.00002
|
NM_014244.5(ADAMTS2):c.3339C>T (p.His1113=)
|
rs780346183
|
0.00002
|
NM_014244.5(ADAMTS2):c.339C>T (p.Val113=)
|
rs143877087
|
0.00002
|
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=)
|
rs886060490
|
0.00002
|
NM_014244.5(ADAMTS2):c.534+11A>C
|
rs768717695
|
0.00002
|
NM_014244.5(ADAMTS2):c.535-5C>T
|
rs772473736
|
0.00002
|
NM_014244.5(ADAMTS2):c.678C>G (p.Ala226=)
|
rs766547415
|
0.00002
|
NM_014244.5(ADAMTS2):c.690G>A (p.Gly230=)
|
rs138176208
|
0.00002
|
NM_014244.5(ADAMTS2):c.804C>T (p.Ile268=)
|
rs200868191
|
0.00002
|
NM_017946.4(FKBP14):c.39C>T (p.Phe13=)
|
rs371838963
|
0.00002
|
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=)
|
rs933332160
|
0.00002
|
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=)
|
rs1200418637
|
0.00002
|
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=)
|
rs981250392
|
0.00002
|
NM_130468.4(CHST14):c.252C>T (p.Arg84=)
|
rs1377145039
|
0.00002
|
NM_130468.4(CHST14):c.861G>A (p.Gln287=)
|
rs772452727
|
0.00002
|
NM_000089.4(COL1A2):c.1071C>T (p.Ser357=)
|
rs752193830
|
0.00001
|
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=)
|
rs547506739
|
0.00001
|
NM_000089.4(COL1A2):c.1146C>T (p.Gly382=)
|
rs1397328517
|
0.00001
|
NM_000089.4(COL1A2):c.1197+14G>A
|
rs756968679
|
0.00001
|
NM_000089.4(COL1A2):c.1198-12A>G
|
rs1292046736
|
0.00001
|
NM_000089.4(COL1A2):c.1198-16A>T
|
rs984345878
|
0.00001
|
NM_000089.4(COL1A2):c.1198-8T>C
|
rs769888724
|
0.00001
|
NM_000089.4(COL1A2):c.1245C>T (p.Gly415=)
|
rs752359132
|
0.00001
|
NM_000089.4(COL1A2):c.132+7A>G
|
rs751380636
|
0.00001
|
NM_000089.4(COL1A2):c.1350+14T>A
|
rs377624499
|
0.00001
|
NM_000089.4(COL1A2):c.1377C>T (p.Ile459=)
|
rs770230919
|
0.00001
|
NM_000089.4(COL1A2):c.1419C>T (p.Ile473=)
|
rs543815305
|
0.00001
|
NM_000089.4(COL1A2):c.1503+11C>T
|
rs538640615
|
0.00001
|
NM_000089.4(COL1A2):c.1503+13A>G
|
rs759564451
|
0.00001
|
NM_000089.4(COL1A2):c.1504-19T>G
|
rs746631924
|
0.00001
|
NM_000089.4(COL1A2):c.1563T>C (p.Ala521=)
|
rs765688776
|
0.00001
|
NM_000089.4(COL1A2):c.1611+9T>A
|
rs200333208
|
0.00001
|
NM_000089.4(COL1A2):c.1666-17T>C
|
rs758247671
|
0.00001
|
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)
|
rs1394933873
|
0.00001
|
NM_000089.4(COL1A2):c.1719+15T>C
|
rs746176634
|
0.00001
|
NM_000089.4(COL1A2):c.1761A>G (p.Pro587=)
|
rs746150563
|
0.00001
|
NM_000089.4(COL1A2):c.1764+13T>G
|
rs780458719
|
0.00001
|
NM_000089.4(COL1A2):c.1773C>T (p.Arg591=)
|
rs774232044
|
0.00001
|
NM_000089.4(COL1A2):c.1971+17A>G
|
rs1057524258
|
0.00001
|
NM_000089.4(COL1A2):c.1972-7C>T
|
rs776401729
|
0.00001
|
NM_000089.4(COL1A2):c.2026-19G>A
|
rs546549922
|
0.00001
|
NM_000089.4(COL1A2):c.2079+8T>C
|
rs745913455
|
0.00001
|
NM_000089.4(COL1A2):c.2091G>A (p.Gly697=)
|
rs749221597
|
0.00001
|
NM_000089.4(COL1A2):c.2151C>T (p.Val717=)
|
rs763380136
|
0.00001
|
NM_000089.4(COL1A2):c.2187+8T>C
|
rs763816519
|
0.00001
|
NM_000089.4(COL1A2):c.219C>T (p.Leu73=)
|
rs768467735
|
0.00001
|
NM_000089.4(COL1A2):c.225+14C>T
|
rs751435484
|
0.00001
|
NM_000089.4(COL1A2):c.2295+15C>T
|
rs1359360545
|
0.00001
|
NM_000089.4(COL1A2):c.2296-6A>G
|
rs1004706789
|
0.00001
|
NM_000089.4(COL1A2):c.2424T>C (p.Gly808=)
|
rs766541855
|
0.00001
|
NM_000089.4(COL1A2):c.2565+7G>A
|
rs368445054
|
0.00001
|
NM_000089.4(COL1A2):c.2566-19G>A
|
rs754764745
|
0.00001
|
NM_000089.4(COL1A2):c.2622T>C (p.Gly874=)
|
rs769128071
|
0.00001
|
NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu)
|
rs773819922
|
0.00001
|
NM_000089.4(COL1A2):c.2634G>A (p.Ser878=)
|
rs762339011
|
0.00001
|
NM_000089.4(COL1A2):c.2673+8C>T
|
rs760346992
|
0.00001
|
NM_000089.4(COL1A2):c.2781+10A>G
|
rs760431398
|
0.00001
|
NM_000089.4(COL1A2):c.2781+13C>G
|
rs193922163
|
0.00001
|
NM_000089.4(COL1A2):c.279+12T>C
|
rs751199493
|
0.00001
|
NM_000089.4(COL1A2):c.280-7T>C
|
rs750868020
|
0.00001
|
NM_000089.4(COL1A2):c.2802T>C (p.Gly934=)
|
rs1379123302
|
0.00001
|
NM_000089.4(COL1A2):c.2805C>A (p.Pro935=)
|
rs377577833
|
0.00001
|
NM_000089.4(COL1A2):c.2823A>G (p.Gln941=)
|
rs1187487060
|
0.00001
|
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=)
|
rs141516754
|
0.00001
|
NM_000089.4(COL1A2):c.2870T>A (p.Val957Asp)
|
rs374347304
|
0.00001
|
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rs1473955537
|
0.00001
|
NM_000093.5(COL5A1):c.1570-10A>T
|
rs530036079
|
0.00001
|
NM_000093.5(COL5A1):c.1638G>A (p.Ala546=)
|
rs775508023
|
0.00001
|
NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr)
|
rs761717025
|
0.00001
|
NM_000093.5(COL5A1):c.1663-10T>C
|
rs767306262
|
0.00001
|
NM_000093.5(COL5A1):c.1674G>A (p.Arg558=)
|
rs746502968
|
0.00001
|
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=)
|
rs143647239
|
0.00001
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
NM_000093.5(COL5A1):c.1755G>A (p.Pro585=)
|
rs779658584
|
0.00001
|
NM_000093.5(COL5A1):c.1761C>T (p.Asp587=)
|
rs974596853
|
0.00001
|
NM_000093.5(COL5A1):c.1797G>A (p.Pro599=)
|
rs201463583
|
0.00001
|
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu)
|
rs749007253
|
0.00001
|
NM_000093.5(COL5A1):c.186C>T (p.Cys62=)
|
rs778516121
|
0.00001
|
NM_000093.5(COL5A1):c.1882-4G>T
|
rs1253885983
|
0.00001
|
NM_000093.5(COL5A1):c.1936-10C>T
|
rs779506561
|
0.00001
|
NM_000093.5(COL5A1):c.1936-15C>G
|
rs755787951
|
0.00001
|
NM_000093.5(COL5A1):c.1989+15G>A
|
rs765969450
|
0.00001
|
NM_000093.5(COL5A1):c.198A>C (p.Arg66=)
|
rs1463204835
|
0.00001
|
NM_000093.5(COL5A1):c.1990-12T>C
|
rs776163211
|
0.00001
|
NM_000093.5(COL5A1):c.1995C>T (p.Asp665=)
|
rs765776659
|
0.00001
|
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys)
|
rs764603796
|
0.00001
|
NM_000093.5(COL5A1):c.2019G>T (p.Gly673=)
|
rs139822656
|
0.00001
|
NM_000093.5(COL5A1):c.2073T>A (p.Gly691=)
|
rs1037184070
|
0.00001
|
NM_000093.5(COL5A1):c.2133+9C>T
|
rs765287192
|
0.00001
|
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser)
|
rs142612655
|
0.00001
|
NM_000093.5(COL5A1):c.2181C>T (p.Gly727=)
|
rs201298716
|
0.00001
|
NM_000093.5(COL5A1):c.2188-8C>T
|
rs369789387
|
0.00001
|
NM_000093.5(COL5A1):c.2226A>G (p.Gly742=)
|
rs1338817325
|
0.00001
|
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=)
|
rs373617798
|
0.00001
|
NM_000093.5(COL5A1):c.2282C>T (p.Pro761Leu)
|
rs150434732
|
0.00001
|
NM_000093.5(COL5A1):c.2331+11G>A
|
rs753145256
|
0.00001
|
NM_000093.5(COL5A1):c.2343C>T (p.Gly781=)
|
rs1384349031
|
0.00001
|
NM_000093.5(COL5A1):c.2382C>T (p.Val794=)
|
rs758190171
|
0.00001
|
NM_000093.5(COL5A1):c.2385+15C>T
|
rs937874882
|
0.00001
|
NM_000093.5(COL5A1):c.2388G>T (p.Gly796=)
|
rs1432407799
|
0.00001
|
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val)
|
rs745370910
|
0.00001
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
NM_000093.5(COL5A1):c.2485-18C>T
|
rs757531928
|
0.00001
|
NM_000093.5(COL5A1):c.2538G>A (p.Lys846=)
|
rs751065864
|
0.00001
|
NM_000093.5(COL5A1):c.2580C>A (p.Pro860=)
|
rs762553184
|
0.00001
|
NM_000093.5(COL5A1):c.2593-14C>G
|
rs771529245
|
0.00001
|
NM_000093.5(COL5A1):c.2646+12C>T
|
rs751662116
|
0.00001
|
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=)
|
rs770622608
|
0.00001
|
NM_000093.5(COL5A1):c.2701-12C>G
|
rs751422216
|
0.00001
|
NM_000093.5(COL5A1):c.2739C>T (p.Gly913=)
|
rs1449725761
|
0.00001
|
NM_000093.5(COL5A1):c.2746-5T>C
|
rs777834778
|
0.00001
|
NM_000093.5(COL5A1):c.277+10G>T
|
rs774861340
|
0.00001
|
NM_000093.5(COL5A1):c.277+20G>C
|
rs772363522
|
0.00001
|
NM_000093.5(COL5A1):c.2770C>T (p.Arg924Trp)
|
rs1472700264
|
0.00001
|
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=)
|
rs774491536
|
0.00001
|
NM_000093.5(COL5A1):c.2800-17del
|
rs1168930103
|
0.00001
|
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)
|
rs1131691874
|
0.00001
|
NM_000093.5(COL5A1):c.2845-11T>C
|
rs769433136
|
0.00001
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
NM_000093.5(COL5A1):c.2847A>T (p.Gly949=)
|
rs898479012
|
0.00001
|
NM_000093.5(COL5A1):c.2880T>G (p.Pro960=)
|
rs560755167
|
0.00001
|
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=)
|
rs1244102860
|
0.00001
|
NM_000093.5(COL5A1):c.2898+20C>T
|
rs781174331
|
0.00001
|
NM_000093.5(COL5A1):c.2907A>G (p.Pro969=)
|
rs1281296909
|
0.00001
|
NM_000093.5(COL5A1):c.2967G>A (p.Lys989=)
|
rs1838131061
|
0.00001
|
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=)
|
rs768883188
|
0.00001
|
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met)
|
rs776676564
|
0.00001
|
NM_000093.5(COL5A1):c.3006+11G>A
|
rs749946777
|
0.00001
|
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu)
|
rs1001786208
|
0.00001
|
NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=)
|
rs1016663584
|
0.00001
|
NM_000093.5(COL5A1):c.3120C>T (p.Asp1040=)
|
rs1216403908
|
0.00001
|
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His)
|
rs778769810
|
0.00001
|
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser)
|
rs763310793
|
0.00001
|
NM_000093.5(COL5A1):c.324C>T (p.Ala108=)
|
rs765929345
|
0.00001
|
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=)
|
rs949276689
|
0.00001
|
NM_000093.5(COL5A1):c.3299C>T (p.Pro1100Leu)
|
rs564375308
|
0.00001
|
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu)
|
rs139039658
|
0.00001
|
NM_000093.5(COL5A1):c.3366+11C>T
|
rs863223438
|
0.00001
|
NM_000093.5(COL5A1):c.3367-16C>G
|
rs1166753078
|
0.00001
|
NM_000093.5(COL5A1):c.3441C>A (p.Gly1147=)
|
rs755982747
|
0.00001
|
NM_000093.5(COL5A1):c.3453C>T (p.Pro1151=)
|
rs753485525
|
0.00001
|
NM_000093.5(COL5A1):c.3492G>A (p.Pro1164=)
|
rs774312418
|
0.00001
|
NM_000093.5(COL5A1):c.3528+15G>A
|
rs541481267
|
0.00001
|
NM_000093.5(COL5A1):c.3529-5C>T
|
rs755227263
|
0.00001
|
NM_000093.5(COL5A1):c.354C>T (p.Ser118=)
|
rs748711211
|
0.00001
|
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu)
|
rs749093832
|
0.00001
|
NM_000093.5(COL5A1):c.3582+20G>T
|
rs375930756
|
0.00001
|
NM_000093.5(COL5A1):c.363C>T (p.Asn121=)
|
rs369180922
|
0.00001
|
NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=)
|
rs1351482667
|
0.00001
|
NM_000093.5(COL5A1):c.3654A>G (p.Arg1218=)
|
rs1330978908
|
0.00001
|
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)
|
rs770392149
|
0.00001
|
NM_000093.5(COL5A1):c.3733G>A (p.Val1245Met)
|
rs1435045393
|
0.00001
|
NM_000093.5(COL5A1):c.3744+12T>G
|
rs750453604
|
0.00001
|
NM_000093.5(COL5A1):c.3745-20T>A
|
rs760842092
|
0.00001
|
NM_000093.5(COL5A1):c.3771A>G (p.Arg1257=)
|
rs1042269053
|
0.00001
|
NM_000093.5(COL5A1):c.3852+10G>A
|
rs749190469
|
0.00001
|
NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=)
|
rs879205988
|
0.00001
|
NM_000093.5(COL5A1):c.3921A>G (p.Glu1307=)
|
rs1322220087
|
0.00001
|
NM_000093.5(COL5A1):c.3933G>A (p.Lys1311=)
|
rs1331038066
|
0.00001
|
NM_000093.5(COL5A1):c.3961G>A (p.Gly1321Arg)
|
rs1034436638
|
0.00001
|
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=)
|
rs1363178603
|
0.00001
|
NM_000093.5(COL5A1):c.4069-4A>G
|
rs377325113
|
0.00001
|
NM_000093.5(COL5A1):c.4176+19A>C
|
rs746397034
|
0.00001
|
NM_000093.5(COL5A1):c.4177-8T>A
|
rs1838818747
|
0.00001
|
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
|
rs765217611
|
0.00001
|
NM_000093.5(COL5A1):c.4231-10C>T
|
rs772316957
|
0.00001
|
NM_000093.5(COL5A1):c.4231-13C>T
|
rs558048358
|
0.00001
|
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)
|
rs755495352
|
0.00001
|
NM_000093.5(COL5A1):c.4338+18G>C
|
rs781247782
|
0.00001
|
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val)
|
rs369740453
|
0.00001
|
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=)
|
rs756096066
|
0.00001
|
NM_000093.5(COL5A1):c.4392+16C>T
|
rs763448522
|
0.00001
|
NM_000093.5(COL5A1):c.4446+16C>T
|
rs1392869887
|
0.00001
|
NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys)
|
rs200987038
|
0.00001
|
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala)
|
rs1008518818
|
0.00001
|
NM_000093.5(COL5A1):c.4554+12G>A
|
rs777162668
|
0.00001
|
NM_000093.5(COL5A1):c.4555-8C>T
|
rs1393610396
|
0.00001
|
NM_000093.5(COL5A1):c.456C>T (p.Tyr152=)
|
rs1833616245
|
0.00001
|
NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=)
|
rs770238710
|
0.00001
|
NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=)
|
rs774464652
|
0.00001
|
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=)
|
rs762698462
|
0.00001
|
NM_000093.5(COL5A1):c.4644+11T>C
|
rs559588659
|
0.00001
|
NM_000093.5(COL5A1):c.4644+16C>T
|
rs376268793
|
0.00001
|
NM_000093.5(COL5A1):c.4668G>A (p.Glu1556=)
|
rs1457901052
|
0.00001
|
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=)
|
rs775725420
|
0.00001
|
NM_000093.5(COL5A1):c.474C>T (p.Ile158=)
|
rs372769772
|
0.00001
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn)
|
rs748610273
|
0.00001
|
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=)
|
rs886063677
|
0.00001
|
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)
|
rs754447923
|
0.00001
|
NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser)
|
rs764543567
|
0.00001
|
NM_000093.5(COL5A1):c.492-16A>G
|
rs775028310
|
0.00001
|
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr)
|
rs863223461
|
0.00001
|
NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=)
|
rs367902089
|
0.00001
|
NM_000093.5(COL5A1):c.5033C>G (p.Ser1678Trp)
|
rs145299315
|
0.00001
|
NM_000093.5(COL5A1):c.5067+7A>G
|
rs374122742
|
0.00001
|
NM_000093.5(COL5A1):c.5068-13G>A
|
rs761059323
|
0.00001
|
NM_000093.5(COL5A1):c.5068-9C>T
|
rs572218532
|
0.00001
|
NM_000093.5(COL5A1):c.5099C>T (p.Pro1700Leu)
|
rs751699482
|
0.00001
|
NM_000093.5(COL5A1):c.5136+17C>T
|
rs765571792
|
0.00001
|
NM_000093.5(COL5A1):c.5137-5C>T
|
rs748416238
|
0.00001
|
NM_000093.5(COL5A1):c.5298C>T (p.Phe1766=)
|
rs1231716528
|
0.00001
|
NM_000093.5(COL5A1):c.5358G>T (p.Val1786=)
|
rs766205598
|
0.00001
|
NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser)
|
rs759291514
|
0.00001
|
NM_000093.5(COL5A1):c.5370+12G>A
|
rs752141684
|
0.00001
|
NM_000093.5(COL5A1):c.540C>A (p.Ile180=)
|
rs374994926
|
0.00001
|
NM_000093.5(COL5A1):c.5421G>A (p.Val1807=)
|
rs1245708449
|
0.00001
|
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=)
|
rs886063678
|
0.00001
|
NM_000093.5(COL5A1):c.543C>T (p.Leu181=)
|
rs368485498
|
0.00001
|
NM_000093.5(COL5A1):c.544G>A (p.Asp182Asn)
|
rs761005141
|
0.00001
|
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=)
|
rs748940142
|
0.00001
|
NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp)
|
rs1251114548
|
0.00001
|
NM_000093.5(COL5A1):c.582C>T (p.Ser194=)
|
rs563191799
|
0.00001
|
NM_000093.5(COL5A1):c.609C>T (p.Gly203=)
|
rs146054551
|
0.00001
|
NM_000093.5(COL5A1):c.610A>G (p.Ile204Val)
|
rs1060502245
|
0.00001
|
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln)
|
rs1382944823
|
0.00001
|
NM_000093.5(COL5A1):c.702T>C (p.Tyr234=)
|
rs767696801
|
0.00001
|
NM_000093.5(COL5A1):c.723C>T (p.Ser241=)
|
rs1554787555
|
0.00001
|
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn)
|
rs758431206
|
0.00001
|
NM_000093.5(COL5A1):c.756A>C (p.Pro252=)
|
rs1030582099
|
0.00001
|
NM_000093.5(COL5A1):c.762G>T (p.Ser254=)
|
rs767928508
|
0.00001
|
NM_000093.5(COL5A1):c.786+11T>G
|
rs766319028
|
0.00001
|
NM_000093.5(COL5A1):c.787-9C>G
|
rs751472921
|
0.00001
|
NM_000093.5(COL5A1):c.801C>T (p.Asp267=)
|
rs778401280
|
0.00001
|
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=)
|
rs771253587
|
0.00001
|
NM_000093.5(COL5A1):c.846C>T (p.Asp282=)
|
rs775736911
|
0.00001
|
NM_000093.5(COL5A1):c.849C>T (p.Pro283=)
|
rs761805821
|
0.00001
|
NM_000093.5(COL5A1):c.888C>T (p.Pro296=)
|
rs747624704
|
0.00001
|
NM_000093.5(COL5A1):c.987G>A (p.Lys329=)
|
rs769516996
|
0.00001
|
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=)
|
rs1159010003
|
0.00001
|
NM_000302.4(PLOD1):c.1097+10G>A
|
rs562510011
|
0.00001
|
NM_000302.4(PLOD1):c.117G>A (p.Glu39=)
|
rs779453447
|
0.00001
|
NM_000302.4(PLOD1):c.1202+14G>A
|
rs757830518
|
0.00001
|
NM_000302.4(PLOD1):c.1209C>T (p.Val403=)
|
rs1401528073
|
0.00001
|
NM_000302.4(PLOD1):c.1299C>T (p.Asp433=)
|
rs886039111
|
0.00001
|
NM_000302.4(PLOD1):c.1317G>A (p.Gln439=)
|
rs1334363341
|
0.00001
|
NM_000302.4(PLOD1):c.135G>A (p.Lys45=)
|
rs765354146
|
0.00001
|
NM_000302.4(PLOD1):c.1461C>T (p.Ile487=)
|
rs746099980
|
0.00001
|
NM_000302.4(PLOD1):c.1471-17G>A
|
rs373324035
|
0.00001
|
NM_000302.4(PLOD1):c.1471-6C>T
|
rs751904520
|
0.00001
|
NM_000302.4(PLOD1):c.1515G>A (p.Leu505=)
|
rs1034116707
|
0.00001
|
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=)
|
rs1025133534
|
0.00001
|
NM_000302.4(PLOD1):c.1542C>T (p.Thr514=)
|
rs916626462
|
0.00001
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
NM_000302.4(PLOD1):c.1659G>A (p.Pro553=)
|
rs778242162
|
0.00001
|
NM_000302.4(PLOD1):c.169-6C>T
|
rs766073845
|
0.00001
|
NM_000302.4(PLOD1):c.1872G>A (p.Thr624=)
|
rs1026914936
|
0.00001
|
NM_000302.4(PLOD1):c.1887C>T (p.Pro629=)
|
rs1359830439
|
0.00001
|
NM_000302.4(PLOD1):c.1926C>T (p.Val642=)
|
rs763454814
|
0.00001
|
NM_000302.4(PLOD1):c.1998C>T (p.Ile666=)
|
rs748080300
|
0.00001
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
NM_000302.4(PLOD1):c.2172C>T (p.Phe724=)
|
rs1255270684
|
0.00001
|
NM_000302.4(PLOD1):c.2175C>T (p.Val725=)
|
rs768818916
|
0.00001
|
NM_000302.4(PLOD1):c.246G>A (p.Lys82=)
|
rs1258534388
|
0.00001
|
NM_000302.4(PLOD1):c.303-7G>A
|
rs1428437805
|
0.00001
|
NM_000302.4(PLOD1):c.309C>T (p.Asp103=)
|
rs750096749
|
0.00001
|
NM_000302.4(PLOD1):c.354G>C (p.Arg118=)
|
rs746072884
|
0.00001
|
NM_000302.4(PLOD1):c.498A>G (p.Lys166=)
|
rs1290621264
|
0.00001
|
NM_000302.4(PLOD1):c.54G>A (p.Ala18=)
|
rs1266038179
|
0.00001
|
NM_000302.4(PLOD1):c.562T>C (p.Leu188=)
|
rs967684441
|
0.00001
|
NM_000302.4(PLOD1):c.643+13C>A
|
rs1297071034
|
0.00001
|
NM_000302.4(PLOD1):c.643+8G>T
|
rs768848010
|
0.00001
|
NM_000302.4(PLOD1):c.644-16G>A
|
rs778818723
|
0.00001
|
NM_000302.4(PLOD1):c.651C>T (p.Val217=)
|
rs759435283
|
0.00001
|
NM_000302.4(PLOD1):c.741+7G>A
|
rs751215041
|
0.00001
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
NM_000302.4(PLOD1):c.789C>T (p.Phe263=)
|
rs908800499
|
0.00001
|
NM_000302.4(PLOD1):c.844-16G>A
|
rs565657931
|
0.00001
|
NM_000302.4(PLOD1):c.846T>C (p.Asp282=)
|
rs755620088
|
0.00001
|
NM_000302.4(PLOD1):c.873C>T (p.Gly291=)
|
rs1391173198
|
0.00001
|
NM_000302.4(PLOD1):c.894G>A (p.Thr298=)
|
rs763229200
|
0.00001
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
NM_000302.4(PLOD1):c.951C>T (p.His317=)
|
rs770032875
|
0.00001
|
NM_000393.5(COL5A2):c.1059+13G>C
|
rs1559093269
|
0.00001
|
NM_000393.5(COL5A2):c.1059+15T>C
|
rs772728428
|
0.00001
|
NM_000393.5(COL5A2):c.1059+9A>G
|
rs776100559
|
0.00001
|
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln)
|
rs761072017
|
0.00001
|
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg)
|
rs760117362
|
0.00001
|
NM_000393.5(COL5A2):c.1158+14G>A
|
rs1057523022
|
0.00001
|
NM_000393.5(COL5A2):c.1159-10A>G
|
rs767892138
|
0.00001
|
NM_000393.5(COL5A2):c.1159-13T>C
|
rs756321922
|
0.00001
|
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=)
|
rs863223485
|
0.00001
|
NM_000393.5(COL5A2):c.1302+9T>C
|
rs1199559237
|
0.00001
|
NM_000393.5(COL5A2):c.1365G>A (p.Gln455=)
|
rs1200615943
|
0.00001
|
NM_000393.5(COL5A2):c.142T>C (p.Tyr48His)
|
rs750126490
|
0.00001
|
NM_000393.5(COL5A2):c.1456-10T>C
|
rs918840882
|
0.00001
|
NM_000393.5(COL5A2):c.1527A>C (p.Pro509=)
|
rs202234821
|
0.00001
|
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=)
|
rs770622592
|
0.00001
|
NM_000393.5(COL5A2):c.1611G>A (p.Gly537=)
|
rs1686117535
|
0.00001
|
NM_000393.5(COL5A2):c.1618-17G>A
|
rs1272843185
|
0.00001
|
NM_000393.5(COL5A2):c.1618-8C>T
|
rs746841809
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.1698T>G (p.Pro566=)
|
rs1483483512
|
0.00001
|
NM_000393.5(COL5A2):c.1704T>C (p.Leu568=)
|
rs776228988
|
0.00001
|
NM_000393.5(COL5A2):c.1716+12G>A
|
rs745767713
|
0.00001
|
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
|
rs544303636
|
0.00001
|
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu)
|
rs746458284
|
0.00001
|
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr)
|
rs904166744
|
0.00001
|
NM_000393.5(COL5A2):c.2031+14C>T
|
rs749030256
|
0.00001
|
NM_000393.5(COL5A2):c.2121A>G (p.Leu707=)
|
rs1247190308
|
0.00001
|
NM_000393.5(COL5A2):c.2131-16C>T
|
rs1187598016
|
0.00001
|
NM_000393.5(COL5A2):c.2131-5G>T
|
rs1219841781
|
0.00001
|
NM_000393.5(COL5A2):c.2138G>A (p.Arg713Gln)
|
rs776302656
|
0.00001
|
NM_000393.5(COL5A2):c.2229+10A>G
|
rs1269243284
|
0.00001
|
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=)
|
rs549187703
|
0.00001
|
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=)
|
rs138457003
|
0.00001
|
NM_000393.5(COL5A2):c.2392-4A>G
|
rs758314268
|
0.00001
|
NM_000393.5(COL5A2):c.2400A>G (p.Pro800=)
|
rs1335810893
|
0.00001
|
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)
|
rs575864379
|
0.00001
|
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)
|
rs200019093
|
0.00001
|
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp)
|
rs778544623
|
0.00001
|
NM_000393.5(COL5A2):c.2499+18G>T
|
rs1275018864
|
0.00001
|
NM_000393.5(COL5A2):c.2500-12G>T
|
rs749087232
|
0.00001
|
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn)
|
rs745528957
|
0.00001
|
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=)
|
rs1192759045
|
0.00001
|
NM_000393.5(COL5A2):c.2554-5T>C
|
rs373495598
|
0.00001
|
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met)
|
rs778591411
|
0.00001
|
NM_000393.5(COL5A2):c.2623C>T (p.Pro875Ser)
|
rs754389345
|
0.00001
|
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
|
rs760858324
|
0.00001
|
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)
|
rs773515722
|
0.00001
|
NM_000393.5(COL5A2):c.2715+12T>G
|
rs369677461
|
0.00001
|
NM_000393.5(COL5A2):c.2715+16G>A
|
rs774654781
|
0.00001
|
NM_000393.5(COL5A2):c.2715+18T>G
|
rs781686307
|
0.00001
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
NM_000393.5(COL5A2):c.2745C>A (p.Gly915=)
|
rs778360315
|
0.00001
|
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser)
|
rs1189019903
|
0.00001
|
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=)
|
rs141089340
|
0.00001
|
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)
|
rs761988412
|
0.00001
|
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=)
|
rs372780282
|
0.00001
|
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=)
|
rs1685766903
|
0.00001
|
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=)
|
rs757271535
|
0.00001
|
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)
|
rs1354785209
|
0.00001
|
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=)
|
rs777896102
|
0.00001
|
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=)
|
rs756259584
|
0.00001
|
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val)
|
rs763462242
|
0.00001
|
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser)
|
rs187336363
|
0.00001
|
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=)
|
rs769755441
|
0.00001
|
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=)
|
rs746246121
|
0.00001
|
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys)
|
rs779213867
|
0.00001
|
NM_000393.5(COL5A2):c.3201+8C>A
|
rs751150447
|
0.00001
|
NM_000393.5(COL5A2):c.324T>C (p.Gly108=)
|
rs201881801
|
0.00001
|
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=)
|
rs1576490715
|
0.00001
|
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln)
|
rs369725456
|
0.00001
|
NM_000393.5(COL5A2):c.3330A>G (p.Gly1110=)
|
rs928228342
|
0.00001
|
NM_000393.5(COL5A2):c.3336T>A (p.Pro1112=)
|
rs773532298
|
0.00001
|
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)
|
rs886055354
|
0.00001
|
NM_000393.5(COL5A2):c.3406C>A (p.Arg1136=)
|
rs754843093
|
0.00001
|
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=)
|
rs754108091
|
0.00001
|
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=)
|
rs140022057
|
0.00001
|
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala)
|
rs863223496
|
0.00001
|
NM_000393.5(COL5A2):c.3633+12A>G
|
rs886055353
|
0.00001
|
NM_000393.5(COL5A2):c.3633+14G>T
|
rs776087725
|
0.00001
|
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
|
rs1056466895
|
0.00001
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
|
rs762902468
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser)
|
rs766162092
|
0.00001
|
NM_000393.5(COL5A2):c.3881G>A (p.Arg1294His)
|
rs150063612
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)
|
rs372897632
|
0.00001
|
NM_000393.5(COL5A2):c.3925+17C>T
|
rs1685506449
|
0.00001
|
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)
|
rs141206016
|
0.00001
|
NM_000393.5(COL5A2):c.4089T>G (p.Gly1363=)
|
rs753760854
|
0.00001
|
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=)
|
rs755092575
|
0.00001
|
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala)
|
rs370026245
|
0.00001
|
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
|
rs754932150
|
0.00001
|
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)
|
rs146982082
|
0.00001
|
NM_000393.5(COL5A2):c.4353+9T>C
|
rs776352996
|
0.00001
|
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met)
|
rs745935107
|
0.00001
|
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)
|
rs1430667498
|
0.00001
|
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)
|
rs781760462
|
0.00001
|
NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=)
|
rs1193385199
|
0.00001
|
NM_000393.5(COL5A2):c.464G>A (p.Arg155His)
|
rs754702218
|
0.00001
|
NM_000393.5(COL5A2):c.528T>A (p.Pro176=)
|
rs751404827
|
0.00001
|
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu)
|
rs766179958
|
0.00001
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
NM_000393.5(COL5A2):c.615G>A (p.Gly205=)
|
rs757199738
|
0.00001
|
NM_000393.5(COL5A2):c.687G>A (p.Gln229=)
|
rs1010903537
|
0.00001
|
NM_000393.5(COL5A2):c.690+17T>C
|
rs1171215082
|
0.00001
|
NM_000393.5(COL5A2):c.690+9C>G
|
rs745863682
|
0.00001
|
NM_000393.5(COL5A2):c.691-15T>G
|
rs756189756
|
0.00001
|
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser)
|
rs763287143
|
0.00001
|
NM_000393.5(COL5A2):c.798+15C>T
|
rs1476791697
|
0.00001
|
NM_000393.5(COL5A2):c.878C>T (p.Pro293Leu)
|
rs754230712
|
0.00001
|
NM_000393.5(COL5A2):c.961-10T>G
|
rs770126461
|
0.00001
|
NM_000393.5(COL5A2):c.969T>C (p.Ala323=)
|
rs781515066
|
0.00001
|
NM_001128225.3(SLC39A13):c.1101G>A (p.Ser367=)
|
rs1404886730
|
0.00001
|
NM_001128225.3(SLC39A13):c.249C>T (p.Val83=)
|
rs1314433275
|
0.00001
|
NM_001128225.3(SLC39A13):c.302-17G>A
|
rs775872862
|
0.00001
|
NM_001128225.3(SLC39A13):c.348A>G (p.Gly116=)
|
rs202080209
|
0.00001
|
NM_001128225.3(SLC39A13):c.399G>A (p.Thr133=)
|
rs539165797
|
0.00001
|
NM_001128225.3(SLC39A13):c.477C>T (p.Ile159=)
|
rs778348255
|
0.00001
|
NM_001128225.3(SLC39A13):c.513C>T (p.Asp171=)
|
rs775273374
|
0.00001
|
NM_001128225.3(SLC39A13):c.531C>T (p.Thr177=)
|
rs370685869
|
0.00001
|
NM_001128225.3(SLC39A13):c.537+13C>T
|
rs1198805632
|
0.00001
|
NM_001128225.3(SLC39A13):c.603G>A (p.Pro201=)
|
rs372236399
|
0.00001
|
NM_001128225.3(SLC39A13):c.609A>G (p.Ala203=)
|
rs774755322
|
0.00001
|
NM_001128225.3(SLC39A13):c.645+16A>G
|
rs772265206
|
0.00001
|
NM_001128225.3(SLC39A13):c.816C>T (p.Ala272=)
|
rs764438635
|
0.00001
|
NM_001128225.3(SLC39A13):c.874C>T (p.Leu292=)
|
rs747733289
|
0.00001
|
NM_001128225.3(SLC39A13):c.879C>T (p.Gly293=)
|
rs1047022550
|
0.00001
|
NM_001128225.3(SLC39A13):c.978C>T (p.Gly326=)
|
rs199818224
|
0.00001
|
NM_001128225.3(SLC39A13):c.993C>T (p.Ile331=)
|
rs368704328
|
0.00001
|
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser)
|
rs375542964
|
0.00001
|
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=)
|
rs371748094
|
0.00001
|
NM_004370.6(COL12A1):c.1083G>A (p.Val361=)
|
rs373691118
|
0.00001
|
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)
|
rs370952607
|
0.00001
|
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=)
|
rs751787368
|
0.00001
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=)
|
rs1769468260
|
0.00001
|
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp)
|
rs759184281
|
0.00001
|
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn)
|
rs563331592
|
0.00001
|
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=)
|
rs1004269418
|
0.00001
|
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=)
|
rs192004528
|
0.00001
|
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=)
|
rs1242358815
|
0.00001
|
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=)
|
rs769824937
|
0.00001
|
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln)
|
rs768545712
|
0.00001
|
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=)
|
rs748722008
|
0.00001
|
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn)
|
rs1169546055
|
0.00001
|
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)
|
rs775466928
|
0.00001
|
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=)
|
rs1769411353
|
0.00001
|
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg)
|
rs752633980
|
0.00001
|
NM_004370.6(COL12A1):c.177G>A (p.Val59=)
|
rs772158281
|
0.00001
|
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=)
|
rs552726593
|
0.00001
|
NM_004370.6(COL12A1):c.18C>T (p.Pro6=)
|
rs1427431369
|
0.00001
|
NM_004370.6(COL12A1):c.191-12T>C
|
rs772991479
|
0.00001
|
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys)
|
rs760872362
|
0.00001
|
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser)
|
rs1436987187
|
0.00001
|
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=)
|
rs779972390
|
0.00001
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=)
|
rs759595683
|
0.00001
|
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln)
|
rs775023310
|
0.00001
|
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=)
|
rs770644269
|
0.00001
|
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu)
|
rs770965835
|
0.00001
|
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=)
|
rs1582185053
|
0.00001
|
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=)
|
rs752359605
|
0.00001
|
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
|
rs772979149
|
0.00001
|
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val)
|
rs769631929
|
0.00001
|
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=)
|
rs781557444
|
0.00001
|
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)
|
rs770970810
|
0.00001
|
NM_004370.6(COL12A1):c.2577C>T (p.Val859=)
|
rs902436577
|
0.00001
|
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter)
|
rs765303183
|
0.00001
|
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=)
|
rs756052823
|
0.00001
|
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=)
|
rs1420771479
|
0.00001
|
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=)
|
rs780559642
|
0.00001
|
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=)
|
rs760141819
|
0.00001
|
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=)
|
rs777357134
|
0.00001
|
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=)
|
rs910433493
|
0.00001
|
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His)
|
rs752304678
|
0.00001
|
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn)
|
rs778135297
|
0.00001
|
NM_004370.6(COL12A1):c.334+8C>T
|
rs1359112911
|
0.00001
|
NM_004370.6(COL12A1):c.335-16T>C
|
rs1286151975
|
0.00001
|
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu)
|
rs1029379585
|
0.00001
|
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=)
|
rs1420617553
|
0.00001
|
NM_004370.6(COL12A1):c.3443+10A>T
|
rs1217280037
|
0.00001
|
NM_004370.6(COL12A1):c.3443+15C>T
|
rs762336310
|
0.00001
|
NM_004370.6(COL12A1):c.3444-8C>T
|
rs765303217
|
0.00001
|
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)
|
rs201542066
|
0.00001
|
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn)
|
rs370641424
|
0.00001
|
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)
|
rs746929943
|
0.00001
|
NM_004370.6(COL12A1):c.363G>A (p.Val121=)
|
rs559388395
|
0.00001
|
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)
|
rs748277540
|
0.00001
|
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=)
|
rs374534617
|
0.00001
|
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=)
|
rs1210652893
|
0.00001
|
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=)
|
rs770806561
|
0.00001
|
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=)
|
rs370675782
|
0.00001
|
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)
|
rs764448554
|
0.00001
|
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys)
|
rs1194355123
|
0.00001
|
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=)
|
rs531318332
|
0.00001
|
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser)
|
rs1187079906
|
0.00001
|
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=)
|
rs751690563
|
0.00001
|
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly)
|
rs1295465247
|
0.00001
|
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=)
|
rs771642899
|
0.00001
|
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=)
|
rs1171598389
|
0.00001
|
NM_004370.6(COL12A1):c.417T>A (p.Thr139=)
|
rs777652114
|
0.00001
|
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile)
|
rs772461470
|
0.00001
|
NM_004370.6(COL12A1):c.4288-6C>T
|
rs768371908
|
0.00001
|
NM_004370.6(COL12A1):c.42G>A (p.Ala14=)
|
rs758961396
|
0.00001
|
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=)
|
rs749367997
|
0.00001
|
NM_004370.6(COL12A1):c.432C>T (p.Leu144=)
|
rs528524927
|
0.00001
|
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=)
|
rs749957138
|
0.00001
|
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=)
|
rs761741355
|
0.00001
|
NM_004370.6(COL12A1):c.4417+15_4417+19del
|
rs768514093
|
0.00001
|
NM_004370.6(COL12A1):c.441C>T (p.Gly147=)
|
rs370007721
|
0.00001
|
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=)
|
rs372904002
|
0.00001
|
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=)
|
rs1554182178
|
0.00001
|
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=)
|
rs1267756642
|
0.00001
|
NM_004370.6(COL12A1):c.4560+10G>C
|
rs372490462
|
0.00001
|
NM_004370.6(COL12A1):c.4561-15C>T
|
rs777154641
|
0.00001
|
NM_004370.6(COL12A1):c.4561-4G>A
|
rs148650016
|
0.00001
|
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)
|
rs76453279
|
0.00001
|
NM_004370.6(COL12A1):c.4690+7T>C
|
rs1364868781
|
0.00001
|
NM_004370.6(COL12A1):c.4690+8A>T
|
rs760044445
|
0.00001
|
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=)
|
rs1429126907
|
0.00001
|
NM_004370.6(COL12A1):c.4737C>T (p.His1579=)
|
rs765450196
|
0.00001
|
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=)
|
rs1464793469
|
0.00001
|
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=)
|
rs749072028
|
0.00001
|
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln)
|
rs781463654
|
0.00001
|
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=)
|
rs1025841228
|
0.00001
|
NM_004370.6(COL12A1):c.4827+16T>C
|
rs535965773
|
0.00001
|
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu)
|
rs754277446
|
0.00001
|
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=)
|
rs767188736
|
0.00001
|
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=)
|
rs1219807352
|
0.00001
|
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=)
|
rs762832336
|
0.00001
|
NM_004370.6(COL12A1):c.4957+10G>C
|
rs1172874533
|
0.00001
|
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn)
|
rs754587593
|
0.00001
|
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=)
|
rs1301829570
|
0.00001
|
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=)
|
rs757968333
|
0.00001
|
NM_004370.6(COL12A1):c.5098-14C>T
|
rs370402417
|
0.00001
|
NM_004370.6(COL12A1):c.5098-5C>T
|
rs766762283
|
0.00001
|
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr)
|
rs780886772
|
0.00001
|
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=)
|
rs767349975
|
0.00001
|
NM_004370.6(COL12A1):c.5252-12A>C
|
rs747721408
|
0.00001
|
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=)
|
rs1372127467
|
0.00001
|
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=)
|
rs1422128161
|
0.00001
|
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=)
|
rs750914354
|
0.00001
|
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr)
|
rs1464239210
|
0.00001
|
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)
|
rs757825778
|
0.00001
|
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys)
|
rs773807635
|
0.00001
|
NM_004370.6(COL12A1):c.5664+14G>T
|
rs371510068
|
0.00001
|
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=)
|
rs200130428
|
0.00001
|
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn)
|
rs759905934
|
0.00001
|
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=)
|
rs369481796
|
0.00001
|
NM_004370.6(COL12A1):c.5795-14C>T
|
rs1178311224
|
0.00001
|
NM_004370.6(COL12A1):c.5938-7C>T
|
rs1343757913
|
0.00001
|
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)
|
rs768824483
|
0.00001
|
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp)
|
rs199501842
|
0.00001
|
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu)
|
rs752189896
|
0.00001
|
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=)
|
rs762626921
|
0.00001
|
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=)
|
rs764896298
|
0.00001
|
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=)
|
rs1248355913
|
0.00001
|
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser)
|
rs202186932
|
0.00001
|
NM_004370.6(COL12A1):c.6211-4A>G
|
rs762268779
|
0.00001
|
NM_004370.6(COL12A1):c.6340+12G>A
|
rs749187959
|
0.00001
|
NM_004370.6(COL12A1):c.6340+19C>T
|
rs1244591730
|
0.00001
|
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe)
|
rs772205982
|
0.00001
|
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu)
|
rs186836845
|
0.00001
|
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=)
|
rs372703375
|
0.00001
|
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys)
|
rs776701367
|
0.00001
|
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=)
|
rs763927693
|
0.00001
|
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=)
|
rs1458129254
|
0.00001
|
NM_004370.6(COL12A1):c.6724+13A>G
|
rs757071502
|
0.00001
|
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=)
|
rs1420789055
|
0.00001
|
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=)
|
rs781120781
|
0.00001
|
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=)
|
rs754181144
|
0.00001
|
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=)
|
rs1189256592
|
0.00001
|
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln)
|
rs374405599
|
0.00001
|
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)
|
rs772161963
|
0.00001
|
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)
|
rs745852751
|
0.00001
|
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=)
|
rs1227090004
|
0.00001
|
NM_004370.6(COL12A1):c.7210+9A>G
|
rs369099620
|
0.00001
|
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=)
|
rs368333381
|
0.00001
|
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=)
|
rs776372586
|
0.00001
|
NM_004370.6(COL12A1):c.74-19T>C
|
rs564822630
|
0.00001
|
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln)
|
rs747410893
|
0.00001
|
NM_004370.6(COL12A1):c.7437C>T (p.His2479=)
|
rs775670738
|
0.00001
|
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=)
|
rs745549241
|
0.00001
|
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=)
|
rs778626937
|
0.00001
|
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met)
|
rs572216195
|
0.00001
|
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=)
|
rs895079123
|
0.00001
|
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys)
|
rs372985511
|
0.00001
|
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys)
|
rs777688811
|
0.00001
|
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=)
|
rs1157317368
|
0.00001
|
NM_004370.6(COL12A1):c.75T>C (p.Val25=)
|
rs749054316
|
0.00001
|
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=)
|
rs748445921
|
0.00001
|
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)
|
rs200751269
|
0.00001
|
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
|
rs994920789
|
0.00001
|
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=)
|
rs747657598
|
0.00001
|
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val)
|
rs199660424
|
0.00001
|
NM_004370.6(COL12A1):c.801T>C (p.Val267=)
|
rs781375448
|
0.00001
|
NM_004370.6(COL12A1):c.804A>G (p.Gly268=)
|
rs754993343
|
0.00001
|
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=)
|
rs367966608
|
0.00001
|
NM_004370.6(COL12A1):c.8100+14T>A
|
rs750417570
|
0.00001
|
NM_004370.6(COL12A1):c.8101-16T>C
|
rs757858823
|
0.00001
|
NM_004370.6(COL12A1):c.810A>G (p.Glu270=)
|
rs1326391180
|
0.00001
|
NM_004370.6(COL12A1):c.8266-10T>C
|
rs377345950
|
0.00001
|
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=)
|
rs780813814
|
0.00001
|
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=)
|
rs767957084
|
0.00001
|
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=)
|
rs553998601
|
0.00001
|
NM_004370.6(COL12A1):c.8470-5T>G
|
rs776830409
|
0.00001
|
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)
|
rs779184954
|
0.00001
|
NM_004370.6(COL12A1):c.8523+8T>C
|
rs752217139
|
0.00001
|
NM_004370.6(COL12A1):c.8577+14G>A
|
rs775776703
|
0.00001
|
NM_004370.6(COL12A1):c.8649+7G>A
|
rs1274498192
|
0.00001
|
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys)
|
rs1381259753
|
0.00001
|
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=)
|
rs376238729
|
0.00001
|
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)
|
rs778941390
|
0.00001
|
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser)
|
rs201760746
|
0.00001
|
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu)
|
rs751306147
|
0.00001
|
NM_004370.6(COL12A1):c.912A>G (p.Ala304=)
|
rs767135101
|
0.00001
|
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr)
|
rs774136306
|
0.00001
|
NM_004370.6(COL12A1):c.979T>C (p.Leu327=)
|
rs768698427
|
0.00001
|
NM_007255.3(B4GALT7):c.100C>T (p.Leu34=)
|
rs753921062
|
0.00001
|
NM_007255.3(B4GALT7):c.15G>A (p.Arg5=)
|
rs778740793
|
0.00001
|
NM_007255.3(B4GALT7):c.288A>G (p.Ala96=)
|
rs748595740
|
0.00001
|
NM_007255.3(B4GALT7):c.50+13G>T
|
rs746553066
|
0.00001
|
NM_007255.3(B4GALT7):c.50+20C>A
|
rs1259555733
|
0.00001
|
NM_007255.3(B4GALT7):c.50+9C>T
|
rs1180310359
|
0.00001
|
NM_007255.3(B4GALT7):c.51-12C>T
|
rs374904923
|
0.00001
|
NM_007255.3(B4GALT7):c.51-15C>A
|
rs750251768
|
0.00001
|
NM_007255.3(B4GALT7):c.702C>T (p.Arg234=)
|
rs1768086053
|
0.00001
|
NM_007255.3(B4GALT7):c.726T>A (p.Leu242=)
|
rs367964168
|
0.00001
|
NM_007255.3(B4GALT7):c.813C>T (p.Ile271=)
|
rs570926723
|
0.00001
|
NM_007255.3(B4GALT7):c.879T>C (p.His293=)
|
rs755949684
|
0.00001
|
NM_013352.4(DSE):c.1278A>G (p.Ala426=)
|
rs1253141581
|
0.00001
|
NM_013352.4(DSE):c.1437C>T (p.Phe479=)
|
rs757356537
|
0.00001
|
NM_013352.4(DSE):c.1491C>T (p.Pro497=)
|
rs768130032
|
0.00001
|
NM_013352.4(DSE):c.1512A>G (p.Glu504=)
|
rs200018749
|
0.00001
|
NM_013352.4(DSE):c.243C>T (p.Ser81=)
|
rs780478969
|
0.00001
|
NM_013352.4(DSE):c.2580A>G (p.Leu860=)
|
rs1361177296
|
0.00001
|
NM_013352.4(DSE):c.2724C>T (p.Asn908=)
|
rs750711471
|
0.00001
|
NM_013352.4(DSE):c.2766T>C (p.Tyr922=)
|
rs148311424
|
0.00001
|
NM_013352.4(DSE):c.416+13C>T
|
rs765373035
|
0.00001
|
NM_013352.4(DSE):c.670+12C>T
|
rs190922886
|
0.00001
|
NM_013352.4(DSE):c.75C>T (p.Thr25=)
|
rs752936676
|
0.00001
|
NM_013352.4(DSE):c.864G>A (p.Pro288=)
|
rs780424278
|
0.00001
|
NM_013352.4(DSE):c.885A>C (p.Ala295=)
|
rs1444681997
|
0.00001
|
NM_013352.4(DSE):c.911-15A>G
|
rs1232495093
|
0.00001
|
NM_014244.5(ADAMTS2):c.1068C>T (p.His356=)
|
rs372834434
|
0.00001
|
NM_014244.5(ADAMTS2):c.1132+11C>T
|
rs367786616
|
0.00001
|
NM_014244.5(ADAMTS2):c.1133-12G>A
|
rs765717511
|
0.00001
|
NM_014244.5(ADAMTS2):c.1236C>T (p.His412=)
|
rs375556579
|
0.00001
|
NM_014244.5(ADAMTS2):c.1238+15G>T
|
rs756540143
|
0.00001
|
NM_014244.5(ADAMTS2):c.1239-4G>A
|
rs922294987
|
0.00001
|
NM_014244.5(ADAMTS2):c.1257C>T (p.Asp419=)
|
rs368720430
|
0.00001
|
NM_014244.5(ADAMTS2):c.1260G>A (p.Gly420=)
|
rs376231597
|
0.00001
|
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=)
|
rs746088783
|
0.00001
|
NM_014244.5(ADAMTS2):c.132C>T (p.Asp44=)
|
rs1180118665
|
0.00001
|
NM_014244.5(ADAMTS2):c.1377C>T (p.Tyr459=)
|
rs933381749
|
0.00001
|
NM_014244.5(ADAMTS2):c.1383-5C>G
|
rs1447276433
|
0.00001
|
NM_014244.5(ADAMTS2):c.1398G>C (p.Leu466=)
|
rs200341951
|
0.00001
|
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=)
|
rs751565994
|
0.00001
|
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=)
|
rs758260638
|
0.00001
|
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)
|
rs374288519
|
0.00001
|
NM_014244.5(ADAMTS2):c.1467C>T (p.Asn489=)
|
rs111893309
|
0.00001
|
NM_014244.5(ADAMTS2):c.1470G>A (p.Glu490=)
|
rs780547229
|
0.00001
|
NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=)
|
rs1182897591
|
0.00001
|
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val)
|
rs757394676
|
0.00001
|
NM_014244.5(ADAMTS2):c.1516-9G>A
|
rs768309325
|
0.00001
|
NM_014244.5(ADAMTS2):c.1527T>C (p.Phe509=)
|
rs770787111
|
0.00001
|
NM_014244.5(ADAMTS2):c.1590G>A (p.Lys530=)
|
rs1403889639
|
0.00001
|
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=)
|
rs368700721
|
0.00001
|
NM_014244.5(ADAMTS2):c.1689C>T (p.Ser563=)
|
rs376357664
|
0.00001
|
NM_014244.5(ADAMTS2):c.168C>T (p.Arg56=)
|
rs1179722227
|
0.00001
|
NM_014244.5(ADAMTS2):c.1785C>T (p.Asn595=)
|
rs749792014
|
0.00001
|
NM_014244.5(ADAMTS2):c.1827C>T (p.Leu609=)
|
rs150448689
|
0.00001
|
NM_014244.5(ADAMTS2):c.1836C>T (p.Arg612=)
|
rs1763093760
|
0.00001
|
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=)
|
rs569510744
|
0.00001
|
NM_014244.5(ADAMTS2):c.1881C>T (p.Cys627=)
|
rs762965208
|
0.00001
|
NM_014244.5(ADAMTS2):c.1894C>T (p.Leu632=)
|
rs1763092530
|
0.00001
|
NM_014244.5(ADAMTS2):c.1930C>T (p.Leu644=)
|
rs1450097151
|
0.00001
|
NM_014244.5(ADAMTS2):c.1951+18G>A
|
rs1243999996
|
0.00001
|
NM_014244.5(ADAMTS2):c.1956G>A (p.Lys652=)
|
rs368354498
|
0.00001
|
NM_014244.5(ADAMTS2):c.1998G>A (p.Glu666=)
|
rs548886013
|
0.00001
|
NM_014244.5(ADAMTS2):c.2085+18G>A
|
rs555952324
|
0.00001
|
NM_014244.5(ADAMTS2):c.2209+9G>T
|
rs1017374804
|
0.00001
|
NM_014244.5(ADAMTS2):c.228G>T (p.Ser76=)
|
rs1162154516
|
0.00001
|
NM_014244.5(ADAMTS2):c.2290+15C>T
|
rs764259203
|
0.00001
|
NM_014244.5(ADAMTS2):c.2355C>T (p.Ser785=)
|
rs771411876
|
0.00001
|
NM_014244.5(ADAMTS2):c.2376C>T (p.Gly792=)
|
rs779908624
|
0.00001
|
NM_014244.5(ADAMTS2):c.2412G>A (p.Glu804=)
|
rs766422618
|
0.00001
|
NM_014244.5(ADAMTS2):c.2415G>A (p.Thr805=)
|
rs1376577676
|
0.00001
|
NM_014244.5(ADAMTS2):c.2430C>T (p.Gly810=)
|
rs762314815
|
0.00001
|
NM_014244.5(ADAMTS2):c.2436C>T (p.Leu812=)
|
rs1762929607
|
0.00001
|
NM_014244.5(ADAMTS2):c.2466G>A (p.Pro822=)
|
rs377085746
|
0.00001
|
NM_014244.5(ADAMTS2):c.2487A>C (p.Ser829=)
|
rs201592583
|
0.00001
|
NM_014244.5(ADAMTS2):c.2487A>T (p.Ser829=)
|
rs201592583
|
0.00001
|
NM_014244.5(ADAMTS2):c.2488C>T (p.Leu830=)
|
rs758515627
|
0.00001
|
NM_014244.5(ADAMTS2):c.2529C>T (p.Val843=)
|
rs754467396
|
0.00001
|
NM_014244.5(ADAMTS2):c.2559T>C (p.Ser853=)
|
rs772792600
|
0.00001
|
NM_014244.5(ADAMTS2):c.2568C>T (p.Tyr856=)
|
rs769226679
|
0.00001
|
NM_014244.5(ADAMTS2):c.2617+9G>T
|
rs943437047
|
0.00001
|
NM_014244.5(ADAMTS2):c.2661C>T (p.His887=)
|
rs1425874397
|
0.00001
|
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)
|
rs370747086
|
0.00001
|
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=)
|
rs151261888
|
0.00001
|
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=)
|
rs768036305
|
0.00001
|
NM_014244.5(ADAMTS2):c.2750+10C>T
|
rs1045751866
|
0.00001
|
NM_014244.5(ADAMTS2):c.2787C>G (p.Thr929=)
|
rs149424876
|
0.00001
|
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=)
|
rs557019144
|
0.00001
|
NM_014244.5(ADAMTS2):c.2838A>G (p.Leu946=)
|
rs1762831173
|
0.00001
|
NM_014244.5(ADAMTS2):c.2841C>T (p.His947=)
|
rs779661341
|
0.00001
|
NM_014244.5(ADAMTS2):c.2859C>T (p.Ser953=)
|
rs1273919427
|
0.00001
|
NM_014244.5(ADAMTS2):c.2880T>C (p.Asn960=)
|
rs1350390171
|
0.00001
|
NM_014244.5(ADAMTS2):c.2883C>T (p.Asp961=)
|
rs370397254
|
0.00001
|
NM_014244.5(ADAMTS2):c.2931T>C (p.Gly977=)
|
rs1435384175
|
0.00001
|
NM_014244.5(ADAMTS2):c.2946G>T (p.Gly982=)
|
rs771598781
|
0.00001
|
NM_014244.5(ADAMTS2):c.2958+14C>T
|
rs755961602
|
0.00001
|
NM_014244.5(ADAMTS2):c.2979C>T (p.Asn993=)
|
rs747970179
|
0.00001
|
NM_014244.5(ADAMTS2):c.3089-7C>A
|
rs760424301
|
0.00001
|
NM_014244.5(ADAMTS2):c.3089-9T>C
|
rs776485241
|
0.00001
|
NM_014244.5(ADAMTS2):c.3096C>T (p.Ile1032=)
|
rs1296847536
|
0.00001
|
NM_014244.5(ADAMTS2):c.3120C>T (p.Tyr1040=)
|
rs749365337
|
0.00001
|
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=)
|
rs781264319
|
0.00001
|
NM_014244.5(ADAMTS2):c.3135G>A (p.Leu1045=)
|
rs753027177
|
0.00001
|
NM_014244.5(ADAMTS2):c.3138C>T (p.Ser1046=)
|
rs1164259596
|
0.00001
|
NM_014244.5(ADAMTS2):c.3144G>A (p.Pro1048=)
|
rs1036733329
|
0.00001
|
NM_014244.5(ADAMTS2):c.3150C>T (p.Pro1050=)
|
rs374907597
|
0.00001
|
NM_014244.5(ADAMTS2):c.3156G>A (p.Ser1052=)
|
rs763966576
|
0.00001
|
NM_014244.5(ADAMTS2):c.3243C>T (p.Ser1081=)
|
rs1294398330
|
0.00001
|
NM_014244.5(ADAMTS2):c.3262C>T (p.Leu1088=)
|
rs960542347
|
0.00001
|
NM_014244.5(ADAMTS2):c.3267C>T (p.Cys1089=)
|
rs1172286327
|
0.00001
|
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=)
|
rs769116395
|
0.00001
|
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=)
|
rs777279065
|
0.00001
|
NM_014244.5(ADAMTS2):c.3369C>T (p.Leu1123=)
|
rs372364065
|
0.00001
|
NM_014244.5(ADAMTS2):c.3399G>T (p.Arg1133=)
|
rs775974436
|
0.00001
|
NM_014244.5(ADAMTS2):c.3414C>A (p.Thr1138=)
|
rs777522306
|
0.00001
|
NM_014244.5(ADAMTS2):c.3504T>C (p.His1168=)
|
rs1762617368
|
0.00001
|
NM_014244.5(ADAMTS2):c.3609G>A (p.Arg1203=)
|
rs745724759
|
0.00001
|
NM_014244.5(ADAMTS2):c.370C>T (p.Leu124=)
|
rs760256504
|
0.00001
|
NM_014244.5(ADAMTS2):c.405C>T (p.Ala135=)
|
rs749177926
|
0.00001
|
NM_014244.5(ADAMTS2):c.453G>A (p.Leu151=)
|
rs758831916
|
0.00001
|
NM_014244.5(ADAMTS2):c.456C>G (p.Leu152=)
|
rs750739595
|
0.00001
|
NM_014244.5(ADAMTS2):c.456C>T (p.Leu152=)
|
rs750739595
|
0.00001
|
NM_014244.5(ADAMTS2):c.471C>T (p.Tyr157=)
|
rs752433735
|
0.00001
|
NM_014244.5(ADAMTS2):c.48G>C (p.Leu16=)
|
rs1342781405
|
0.00001
|
NM_014244.5(ADAMTS2):c.535-4G>A
|
rs765017540
|
0.00001
|
NM_014244.5(ADAMTS2):c.597G>A (p.Ala199=)
|
rs758074163
|
0.00001
|
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=)
|
rs886060495
|
0.00001
|
NM_014244.5(ADAMTS2):c.689-8C>A
|
rs992351765
|
0.00001
|
NM_014244.5(ADAMTS2):c.708G>A (p.Leu236=)
|
rs781247753
|
0.00001
|
NM_014244.5(ADAMTS2):c.708G>C (p.Leu236=)
|
rs781247753
|
0.00001
|
NM_014244.5(ADAMTS2):c.717C>T (p.Leu239=)
|
rs1561805614
|
0.00001
|
NM_014244.5(ADAMTS2):c.765G>T (p.Arg255=)
|
rs1764733920
|
0.00001
|
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)
|
rs751895494
|
0.00001
|
NM_014244.5(ADAMTS2):c.87G>A (p.Pro29=)
|
rs1300328320
|
0.00001
|
NM_014244.5(ADAMTS2):c.894C>T (p.Val298=)
|
rs766163593
|
0.00001
|
NM_014244.5(ADAMTS2):c.93G>A (p.Pro31=)
|
rs1326446417
|
0.00001
|
NM_014244.5(ADAMTS2):c.975+9A>G
|
rs1581171879
|
0.00001
|
NM_014244.5(ADAMTS2):c.990C>T (p.Ile330=)
|
rs543342610
|
0.00001
|
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)
|
rs767485549
|
0.00001
|
NM_017946.4(FKBP14):c.174G>A (p.Lys58=)
|
rs1242692107
|
0.00001
|
NM_017946.4(FKBP14):c.198-16T>A
|
rs1345590310
|
0.00001
|
NM_017946.4(FKBP14):c.333T>C (p.Tyr111=)
|
rs564024029
|
0.00001
|
NM_017946.4(FKBP14):c.349+10T>C
|
rs369590377
|
0.00001
|
NM_017946.4(FKBP14):c.468T>C (p.Ser156=)
|
rs1273014447
|
0.00001
|
NM_017946.4(FKBP14):c.486A>T (p.Ala162=)
|
rs370487182
|
0.00001
|
NM_017946.4(FKBP14):c.66C>A (p.Ile22=)
|
rs151294110
|
0.00001
|
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=)
|
rs1638537998
|
0.00001
|
NM_080605.4(B3GALT6):c.189G>A (p.Val63=)
|
rs1471843111
|
0.00001
|
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=)
|
rs1305896128
|
0.00001
|
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=)
|
rs1457990186
|
0.00001
|
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=)
|
rs767598361
|
0.00001
|
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=)
|
rs750669776
|
0.00001
|
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=)
|
rs1402832925
|
0.00001
|
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=)
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rs1489962435
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0.00001
|
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=)
|
rs1057524131
|
0.00001
|
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=)
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rs1256336773
|
0.00001
|
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=)
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rs1300221753
|
0.00001
|
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=)
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rs764901184
|
0.00001
|
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=)
|
rs766274999
|
0.00001
|
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=)
|
rs764915085
|
0.00001
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NM_080605.4(B3GALT6):c.783C>T (p.Arg261=)
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rs1031675737
|
0.00001
|
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=)
|
rs1441211766
|
0.00001
|
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=)
|
rs914725170
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0.00001
|
NM_130468.4(CHST14):c.180C>T (p.Ile60=)
|
rs938393246
|
0.00001
|
NM_130468.4(CHST14):c.189C>T (p.Gly63=)
|
rs1398111943
|
0.00001
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
NM_130468.4(CHST14):c.217C>T (p.Leu73=)
|
rs1482604204
|
0.00001
|
NM_130468.4(CHST14):c.297C>T (p.Asp99=)
|
rs1328842726
|
0.00001
|
NM_130468.4(CHST14):c.378C>G (p.Pro126=)
|
rs752221539
|
0.00001
|
NM_130468.4(CHST14):c.45C>G (p.Ala15=)
|
rs1566969002
|
0.00001
|
NM_130468.4(CHST14):c.580C>T (p.Leu194=)
|
rs1310579126
|
0.00001
|
NM_130468.4(CHST14):c.582G>A (p.Leu194=)
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rs1377861803
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0.00001
|
NM_130468.4(CHST14):c.642G>A (p.Glu214=)
|
rs146662235
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0.00001
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NM_130468.4(CHST14):c.732G>C (p.Arg244=)
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rs1208945086
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0.00001
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NM_130468.4(CHST14):c.801G>C (p.Leu267=)
|
rs998708059
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0.00001
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NM_130468.4(CHST14):c.822C>G (p.Arg274=)
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rs111456654
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0.00001
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NM_130468.4(CHST14):c.843C>T (p.Pro281=)
|
rs778120798
|
0.00001
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NM_130468.4(CHST14):c.978C>T (p.Ala326=)
|
rs576061822
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0.00001
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NM_130468.4(CHST14):c.99G>A (p.Gly33=)
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rs545629118
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0.00001
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NM_000089.4(COL1A2):c.1017T>C (p.Thr339=)
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rs1584319446
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NM_000089.4(COL1A2):c.1029A>G (p.Gly343=)
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NM_000089.4(COL1A2):c.1035+14A>T
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NM_000089.4(COL1A2):c.1036-14G>T
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rs114322680
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NM_000089.4(COL1A2):c.1036-15T>C
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NM_000089.4(COL1A2):c.1036-16C>T
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NM_000089.4(COL1A2):c.1036-19G>C
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NM_000089.4(COL1A2):c.1036-5C>A
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NM_000089.4(COL1A2):c.1041G>A (p.Glu347=)
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NM_000089.4(COL1A2):c.1050A>C (p.Pro350=)
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NM_000089.4(COL1A2):c.1089+14T>C
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NM_000089.4(COL1A2):c.1089+16A>G
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NM_000089.4(COL1A2):c.1089+8del
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rs1791895030
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NM_000089.4(COL1A2):c.1090-10C>A
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NM_000089.4(COL1A2):c.1090-18G>T
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NM_000089.4(COL1A2):c.1090-6A>G
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NM_000089.4(COL1A2):c.1101G>A (p.Gly367=)
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NM_000089.4(COL1A2):c.1107A>G (p.Gln369=)
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NM_000089.4(COL1A2):c.1134A>G (p.Glu378=)
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NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
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NM_000089.4(COL1A2):c.1188T>C (p.Pro396=)
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NM_000089.4(COL1A2):c.1191G>A (p.Gly397=)
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NM_000089.4(COL1A2):c.1197+19C>T
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NM_000089.4(COL1A2):c.1251+11T>C
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NM_000089.4(COL1A2):c.1251+9T>C
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NM_000089.4(COL1A2):c.1252-15T>C
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NM_000089.4(COL1A2):c.1252-19T>G
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NM_000089.4(COL1A2):c.1252-20T>G
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NM_000089.4(COL1A2):c.1252-6G>T
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NM_000089.4(COL1A2):c.1252-6del
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NM_000089.4(COL1A2):c.1296A>G (p.Arg432=)
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NM_000089.4(COL1A2):c.132+14G>T
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NM_000089.4(COL1A2):c.133-17C>T
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NM_000089.4(COL1A2):c.133-19C>G
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NM_000089.4(COL1A2):c.133-5A>G
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NM_000089.4(COL1A2):c.1338C>T (p.Leu446=)
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rs1213032761
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NM_000089.4(COL1A2):c.1350+13C>G
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NM_000089.4(COL1A2):c.1351-16C>G
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NM_000089.4(COL1A2):c.1351-16C>T
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NM_000089.4(COL1A2):c.1351-17C>G
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NM_000089.4(COL1A2):c.1351-17C>T
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NM_000089.4(COL1A2):c.1351-9A>G
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NM_000089.4(COL1A2):c.1371A>G (p.Gly457=)
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NM_000089.4(COL1A2):c.1383C>A (p.Pro461=)
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NM_000089.4(COL1A2):c.1405-10_1405-9del
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rs778910090
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NM_000089.4(COL1A2):c.1416C>T (p.Gly472=)
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NM_000089.4(COL1A2):c.1425C>T (p.Gly475=)
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NM_000089.4(COL1A2):c.1434C>A (p.Gly478=)
|
rs756412829
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NM_000089.4(COL1A2):c.1443C>G (p.Gly481=)
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rs757839011
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NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
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rs412777
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NM_000089.4(COL1A2):c.1503+12_1503+14del
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rs772246319
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NM_000089.4(COL1A2):c.1503+20T>C
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NM_000089.4(COL1A2):c.1503+5_1503+9dup
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NM_000089.4(COL1A2):c.1504-18T>G
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NM_000089.4(COL1A2):c.150A>G (p.Pro50=)
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rs369695645
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NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)
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NM_000089.4(COL1A2):c.1524T>C (p.Gly508=)
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NM_000089.4(COL1A2):c.1555C>A (p.Arg519=)
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NM_000089.4(COL1A2):c.1557+11A>G
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NM_000089.4(COL1A2):c.1557+12C>T
|
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NM_000089.4(COL1A2):c.1557+8C>T
|
rs1584321985
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NM_000089.4(COL1A2):c.1558-7T>C
|
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NM_000089.4(COL1A2):c.159T>C (p.Asp53=)
|
rs201699348
|
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NM_000089.4(COL1A2):c.1611+10T>C
|
rs2115908396
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NM_000089.4(COL1A2):c.1611+3_1611+6del
|
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NM_000089.4(COL1A2):c.1612-18C>G
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NM_000089.4(COL1A2):c.1612-20C>A
|
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NM_000089.4(COL1A2):c.1612-20C>T
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NM_000089.4(COL1A2):c.1612-7C>T
|
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NM_000089.4(COL1A2):c.1612-9C>T
|
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NM_000089.4(COL1A2):c.1644_1645delinsTG (p.Pro549Ala)
|
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NM_000089.4(COL1A2):c.1665+10C>T
|
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NM_000089.4(COL1A2):c.1665+20T>C
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NM_000089.4(COL1A2):c.1665+9A>G
|
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NM_000089.4(COL1A2):c.1666-19T>C
|
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NM_000089.4(COL1A2):c.1666-6T>C
|
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NM_000089.4(COL1A2):c.1689C>G (p.Pro563=)
|
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NM_000089.4(COL1A2):c.1689C>T (p.Pro563=)
|
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NM_000089.4(COL1A2):c.1707A>G (p.Lys569=)
|
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|
NM_000089.4(COL1A2):c.1710A>T (p.Pro570=)
|
rs373341681
|
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NM_000089.4(COL1A2):c.1719+18T>C
|
|
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NM_000089.4(COL1A2):c.1719+7A>T
|
rs1554396853
|
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NM_000089.4(COL1A2):c.1720-19A>G
|
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NM_000089.4(COL1A2):c.1720-4C>T
|
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NM_000089.4(COL1A2):c.1764+7G>A
|
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NM_000089.4(COL1A2):c.1764+8T>C
|
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NM_000089.4(COL1A2):c.1765-10C>T
|
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NM_000089.4(COL1A2):c.1797T>C (p.Ala599=)
|
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|
NM_000089.4(COL1A2):c.1800C>T (p.Ala600=)
|
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|
NM_000089.4(COL1A2):c.180C>A (p.Gly60=)
|
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|
NM_000089.4(COL1A2):c.180C>T (p.Gly60=)
|
rs756659600
|
|
NM_000089.4(COL1A2):c.1842C>A (p.Pro614=)
|
rs931023370
|
|
NM_000089.4(COL1A2):c.1854T>C (p.Asp618=)
|
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NM_000089.4(COL1A2):c.1863+11A>G
|
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NM_000089.4(COL1A2):c.1863+12T>C
|
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NM_000089.4(COL1A2):c.1864-16A>G
|
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NM_000089.4(COL1A2):c.1864-18A>G
|
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NM_000089.4(COL1A2):c.1902T>C (p.Gly634=)
|
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NM_000089.4(COL1A2):c.1971+10G>C
|
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NM_000089.4(COL1A2):c.2025+13T>C
|
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NM_000089.4(COL1A2):c.2025+7A>G
|
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NM_000089.4(COL1A2):c.2026-19G>C
|
rs546549922
|
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NM_000089.4(COL1A2):c.2026-20T>C
|
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NM_000089.4(COL1A2):c.2026-5A>G
|
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NM_000089.4(COL1A2):c.2040T>C (p.Ala680=)
|
rs2115927910
|
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NM_000089.4(COL1A2):c.2046T>A (p.Gly682=)
|
rs2115927971
|
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NM_000089.4(COL1A2):c.2079+11A>G
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NM_000089.4(COL1A2):c.2079+9G>A
|
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NM_000089.4(COL1A2):c.207C>A (p.Gly69=)
|
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NM_000089.4(COL1A2):c.207C>G (p.Gly69=)
|
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NM_000089.4(COL1A2):c.2080-11T>C
|
rs983048164
|
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NM_000089.4(COL1A2):c.2080-15T>G
|
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NM_000089.4(COL1A2):c.2080-20C>A
|
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NM_000089.4(COL1A2):c.2080-20C>T
|
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NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)
|
rs193229878
|
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NM_000089.4(COL1A2):c.2082C>T (p.Gly694=)
|
rs193229878
|
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NM_000089.4(COL1A2):c.2088T>A (p.Ala696=)
|
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NM_000089.4(COL1A2):c.2097T>C (p.Ala699=)
|
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NM_000089.4(COL1A2):c.210C>G (p.Pro70=)
|
rs1791665131
|
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NM_000089.4(COL1A2):c.2133+19C>A
|
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NM_000089.4(COL1A2):c.2133+8A>C
|
rs1554397570
|
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NM_000089.4(COL1A2):c.2134-14del
|
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NM_000089.4(COL1A2):c.2134-4C>T
|
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NM_000089.4(COL1A2):c.2134-8C>G
|
rs1792132576
|
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NM_000089.4(COL1A2):c.2145T>G (p.Gly715=)
|
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NM_000089.4(COL1A2):c.2187+13T>G
|
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NM_000089.4(COL1A2):c.2187+15A>G
|
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NM_000089.4(COL1A2):c.2188-11dup
|
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NM_000089.4(COL1A2):c.2188-12T>C
|
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NM_000089.4(COL1A2):c.2188-7C>T
|
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NM_000089.4(COL1A2):c.222T>C (p.Gly74=)
|
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NM_000089.4(COL1A2):c.225+15G>A
|
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NM_000089.4(COL1A2):c.226-16T>C
|
rs542458716
|
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NM_000089.4(COL1A2):c.226-7T>C
|
rs2115865163
|
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NM_000089.4(COL1A2):c.2262T>C (p.Gly754=)
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NM_000089.4(COL1A2):c.2277T>C (p.Val759=)
|
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NM_000089.4(COL1A2):c.2280A>G (p.Gly760=)
|
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NM_000089.4(COL1A2):c.2295+15C>G
|
rs1359360545
|
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NM_000089.4(COL1A2):c.2296-9del
|
rs1193169956
|
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NM_000089.4(COL1A2):c.2301A>T (p.Pro767=)
|
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NM_000089.4(COL1A2):c.2313C>A (p.Pro771=)
|
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NM_000089.4(COL1A2):c.2313C>G (p.Pro771=)
|
rs144837722
|
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NM_000089.4(COL1A2):c.2313C>T (p.Pro771=)
|
rs144837722
|
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NM_000089.4(COL1A2):c.2316T>C (p.Gly772=)
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NM_000089.4(COL1A2):c.2350-20C>G
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NM_000089.4(COL1A2):c.2385T>G (p.Thr795=)
|
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NM_000089.4(COL1A2):c.2403+14T>C
|
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NM_000089.4(COL1A2):c.2403+20C>T
|
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NM_000089.4(COL1A2):c.2406T>C (p.Gly802=)
|
rs1792198032
|
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NM_000089.4(COL1A2):c.2472C>T (p.Asp824=)
|
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NM_000089.4(COL1A2):c.2481A>T (p.Pro827=)
|
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NM_000089.4(COL1A2):c.2508A>G (p.Ala836=)
|
rs563505012
|
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NM_000089.4(COL1A2):c.255A>C (p.Gly85=)
|
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NM_000089.4(COL1A2):c.255A>G (p.Gly85=)
|
rs772309296
|
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NM_000089.4(COL1A2):c.2565+12C>A
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NM_000089.4(COL1A2):c.2565+15A>G
|
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NM_000089.4(COL1A2):c.2565+7G>C
|
rs368445054
|
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NM_000089.4(COL1A2):c.2566-10dup
|
|
|
NM_000089.4(COL1A2):c.2566-9T>C
|
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NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)
|
rs150179964
|
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NM_000089.4(COL1A2):c.2595T>C (p.Gly865=)
|
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NM_000089.4(COL1A2):c.2622T>A (p.Gly874=)
|
rs769128071
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NM_000089.4(COL1A2):c.2625C>G (p.Leu875=)
|
rs1300787252
|
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NM_000089.4(COL1A2):c.2640T>G (p.Gly880=)
|
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NM_000089.4(COL1A2):c.2652A>G (p.Leu884=)
|
rs767163464
|
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NM_000089.4(COL1A2):c.2673+15G>A
|
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NM_000089.4(COL1A2):c.2673+20C>T
|
rs2115947001
|
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NM_000089.4(COL1A2):c.2673+7G>T
|
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NM_000089.4(COL1A2):c.2673+9T>C
|
rs2115946928
|
|
NM_000089.4(COL1A2):c.2674-6G>C
|
rs771442891
|
|
NM_000089.4(COL1A2):c.2727T>A (p.Pro909=)
|
rs2115949635
|
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NM_000089.4(COL1A2):c.2739T>G (p.Gly913=)
|
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NM_000089.4(COL1A2):c.2775T>A (p.Gly925=)
|
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NM_000089.4(COL1A2):c.2782-11T>C
|
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NM_000089.4(COL1A2):c.2782-18T>G
|
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NM_000089.4(COL1A2):c.2782-8C>G
|
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NM_000089.4(COL1A2):c.2784C>A (p.Gly928=)
|
|
|
NM_000089.4(COL1A2):c.279+7T>A
|
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NM_000089.4(COL1A2):c.280-16T>C
|
|
|
NM_000089.4(COL1A2):c.280-17A>C
|
|
|
NM_000089.4(COL1A2):c.2832C>T (p.His944=)
|
|
|
NM_000089.4(COL1A2):c.2836-20del
|
|
|
NM_000089.4(COL1A2):c.2841G>A (p.Glu947=)
|
rs1562907108
|
|
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=)
|
rs772555004
|
|
NM_000089.4(COL1A2):c.285A>G (p.Leu95=)
|
rs918955690
|
|
NM_000089.4(COL1A2):c.2865T>C (p.Gly955=)
|
|
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NM_000089.4(COL1A2):c.2869G>A (p.Val957Ile)
|
|
|
NM_000089.4(COL1A2):c.2913T>C (p.Pro971=)
|
rs2115952533
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rs1381061693
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NM_000093.5(COL5A1):c.2898+19G>C
|
|
|
NM_000093.5(COL5A1):c.2898+19G>T
|
|
|
NM_000093.5(COL5A1):c.2899-12T>C
|
|
|
NM_000093.5(COL5A1):c.2899-19C>T
|
|
|
NM_000093.5(COL5A1):c.2899-20T>C
|
|
|
NM_000093.5(COL5A1):c.2899-6C>A
|
|
|
NM_000093.5(COL5A1):c.2899-7T>C
|
|
|
NM_000093.5(COL5A1):c.291C>T (p.Pro97=)
|
|
|
NM_000093.5(COL5A1):c.2952+10_2952+11delinsAT
|
|
|
NM_000093.5(COL5A1):c.2952+16del
|
|
|
NM_000093.5(COL5A1):c.2952+20G>A
|
|
|
NM_000093.5(COL5A1):c.2953-10C>T
|
|
|
NM_000093.5(COL5A1):c.2953-14CT[3]
|
|
|
NM_000093.5(COL5A1):c.2970C>G (p.Thr990=)
|
rs548678914
|
|
NM_000093.5(COL5A1):c.2975C>T (p.Pro992Leu)
|
|
|
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
|
|
|
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.2986C>A (p.Pro996Thr)
|
|
|
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=)
|
rs374409202
|
|
NM_000093.5(COL5A1):c.2997C>G (p.Val999=)
|
|
|
NM_000093.5(COL5A1):c.3006+8C>A
|
rs1386029156
|
|
NM_000093.5(COL5A1):c.3007-15T>C
|
|
|
NM_000093.5(COL5A1):c.3007-17A>G
|
|
|
NM_000093.5(COL5A1):c.3007-7C>T
|
|
|
NM_000093.5(COL5A1):c.3015G>T (p.Thr1005=)
|
rs751265351
|
|
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys)
|
rs1060502249
|
|
NM_000093.5(COL5A1):c.3045C>T (p.Gly1015=)
|
|
|
NM_000093.5(COL5A1):c.3054G>T (p.Gly1018=)
|
rs369163868
|
|
NM_000093.5(COL5A1):c.3084T>C (p.Leu1028=)
|
rs2132822335
|
|
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
|
|
|
NM_000093.5(COL5A1):c.3114+10T>C
|
rs1057523401
|
|
NM_000093.5(COL5A1):c.3115-10_3115-9del
|
|
|
NM_000093.5(COL5A1):c.3115-12C>T
|
|
|
NM_000093.5(COL5A1):c.3115-4T>G
|
|
|
NM_000093.5(COL5A1):c.3132A>G (p.Ala1044=)
|
rs2132827122
|
|
NM_000093.5(COL5A1):c.315T>C (p.Thr105=)
|
rs1232024630
|
|
NM_000093.5(COL5A1):c.3162A>T (p.Gly1054=)
|
rs2132827198
|
|
NM_000093.5(COL5A1):c.3163T>C (p.Leu1055=)
|
|
|
NM_000093.5(COL5A1):c.3165A>G (p.Leu1055=)
|
rs1588569724
|
|
NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=)
|
rs943030077
|
|
NM_000093.5(COL5A1):c.3189G>A (p.Gly1063=)
|
|
|
NM_000093.5(COL5A1):c.318G>A (p.Val106=)
|
rs372181142
|
|
NM_000093.5(COL5A1):c.3204+18C>T
|
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|
NM_000093.5(COL5A1):c.3204+19G>A
|
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|
NM_000093.5(COL5A1):c.3205-12A>T
|
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|
NM_000093.5(COL5A1):c.3205-18C>A
|
rs199557977
|
|
NM_000093.5(COL5A1):c.3205-5T>C
|
|
|
NM_000093.5(COL5A1):c.3234G>C (p.Gly1078=)
|
|
|
NM_000093.5(COL5A1):c.3236C>A (p.Pro1079His)
|
|
|
NM_000093.5(COL5A1):c.3255T>C (p.Pro1085=)
|
|
|
NM_000093.5(COL5A1):c.3258+13C>G
|
|
|
NM_000093.5(COL5A1):c.3258+20C>T
|
|
|
NM_000093.5(COL5A1):c.3259-11C>G
|
|
|
NM_000093.5(COL5A1):c.3259-11C>T
|
|
|
NM_000093.5(COL5A1):c.3259-12G>T
|
|
|
NM_000093.5(COL5A1):c.3261A>T (p.Gly1087=)
|
|
|
NM_000093.5(COL5A1):c.3270G>A (p.Gly1090=)
|
|
|
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=)
|
rs760754491
|
|
NM_000093.5(COL5A1):c.3312A>G (p.Pro1104=)
|
rs1554803839
|
|
NM_000093.5(COL5A1):c.3354G>A (p.Glu1118=)
|
rs2132830826
|
|
NM_000093.5(COL5A1):c.3360G>T (p.Gly1120=)
|
|
|
NM_000093.5(COL5A1):c.3366+12C>A
|
|
|
NM_000093.5(COL5A1):c.3366+20G>T
|
|
|
NM_000093.5(COL5A1):c.3367-11G>C
|
|
|
NM_000093.5(COL5A1):c.3367-13C>G
|
|
|
NM_000093.5(COL5A1):c.3367-14_3367-12del
|
rs750002182
|
|
NM_000093.5(COL5A1):c.3367-15T>G
|
|
|
NM_000093.5(COL5A1):c.3367-16C>T
|
|
|
NM_000093.5(COL5A1):c.3367-4C>T
|
rs1411238332
|
|
NM_000093.5(COL5A1):c.3367-7T>A
|
|
|
NM_000093.5(COL5A1):c.3384A>G (p.Gln1128=)
|
|
|
NM_000093.5(COL5A1):c.3414G>A (p.Gly1138=)
|
|
|
NM_000093.5(COL5A1):c.3426C>T (p.Leu1142=)
|
|
|
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
|
rs750169623
|
|
NM_000093.5(COL5A1):c.342C>G (p.Ala114=)
|
rs2132569714
|
|
NM_000093.5(COL5A1):c.3442C>T (p.Pro1148Ser)
|
|
|
NM_000093.5(COL5A1):c.3468A>C (p.Gly1156=)
|
rs1296980747
|
|
NM_000093.5(COL5A1):c.346C>T (p.Leu116=)
|
|
|
NM_000093.5(COL5A1):c.3474+20A>G
|
|
|
NM_000093.5(COL5A1):c.3475-4C>T
|
|
|
NM_000093.5(COL5A1):c.3475-7C>A
|
|
|
NM_000093.5(COL5A1):c.3487G>A (p.Glu1163Lys)
|
|
|
NM_000093.5(COL5A1):c.3528+13A>G
|
|
|
NM_000093.5(COL5A1):c.3528+14C>G
|
|
|
NM_000093.5(COL5A1):c.3529-16G>C
|
|
|
NM_000093.5(COL5A1):c.3529-8C>T
|
|
|
NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=)
|
|
|
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)
|
rs766961124
|
|
NM_000093.5(COL5A1):c.3576C>T (p.Gly1192=)
|
|
|
NM_000093.5(COL5A1):c.3582+7A>G
|
|
|
NM_000093.5(COL5A1):c.3582+9C>T
|
rs1838518099
|
|
NM_000093.5(COL5A1):c.3583-17C>T
|
|
|
NM_000093.5(COL5A1):c.3583-6dup
|
rs773032514
|
|
NM_000093.5(COL5A1):c.3597G>A (p.Glu1199=)
|
rs2132844895
|
|
NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=)
|
rs369518896
|
|
NM_000093.5(COL5A1):c.3690+10G>A
|
|
|
NM_000093.5(COL5A1):c.3690+12G>A
|
rs2132845317
|
|
NM_000093.5(COL5A1):c.3690+8T>G
|
|
|
NM_000093.5(COL5A1):c.3690+8_3690+9del
|
|
|
NM_000093.5(COL5A1):c.3691-13T>G
|
|
|
NM_000093.5(COL5A1):c.3691-6T>C
|
rs1187330689
|
|
NM_000093.5(COL5A1):c.3691-8del
|
rs2132847274
|
|
NM_000093.5(COL5A1):c.36G>A (p.Ala12=)
|
rs1029930975
|
|
NM_000093.5(COL5A1):c.3711C>A (p.Gly1237=)
|
|
|
NM_000093.5(COL5A1):c.3744+11C>T
|
|
|
NM_000093.5(COL5A1):c.3744+16A>G
|
|
|
NM_000093.5(COL5A1):c.3744+9G>T
|
|
|
NM_000093.5(COL5A1):c.3745-15T>A
|
|
|
NM_000093.5(COL5A1):c.3745-4C>G
|
|
|
NM_000093.5(COL5A1):c.3747C>G (p.Gly1249=)
|
|
|
NM_000093.5(COL5A1):c.3747C>T (p.Gly1249=)
|
|
|
NM_000093.5(COL5A1):c.3752C>T (p.Pro1251Leu)
|
|
|
NM_000093.5(COL5A1):c.3807A>G (p.Gln1269=)
|
|
|
NM_000093.5(COL5A1):c.3813C>T (p.Pro1271=)
|
|
|
NM_000093.5(COL5A1):c.3834T>C (p.Pro1278=)
|
|
|
NM_000093.5(COL5A1):c.3847G>A (p.Glu1283Lys)
|
|
|
NM_000093.5(COL5A1):c.3853-14C>A
|
|
|
NM_000093.5(COL5A1):c.3853-19A>G
|
|
|
NM_000093.5(COL5A1):c.3853-20C>T
|
|
|
NM_000093.5(COL5A1):c.3853-33_3853-17del
|
|
|
NM_000093.5(COL5A1):c.3853-8C>T
|
|
|
NM_000093.5(COL5A1):c.3869C>G (p.Ala1290Gly)
|
|
|
NM_000093.5(COL5A1):c.3888G>T (p.Pro1296=)
|
rs375631252
|
|
NM_000093.5(COL5A1):c.3896G>A (p.Gly1299Asp)
|
|
|
NM_000093.5(COL5A1):c.3907-15G>C
|
|
|
NM_000093.5(COL5A1):c.3907-18C>G
|
rs1838675880
|
|
NM_000093.5(COL5A1):c.3907-20C>T
|
|
|
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=)
|
rs367804791
|
|
NM_000093.5(COL5A1):c.3939G>A (p.Glu1313=)
|
rs886063676
|
|
NM_000093.5(COL5A1):c.3957T>C (p.Ala1319=)
|
|
|
NM_000093.5(COL5A1):c.3960C>G (p.Ala1320=)
|
|
|
NM_000093.5(COL5A1):c.3967C>T (p.Pro1323Ser)
|
|
|
NM_000093.5(COL5A1):c.3984T>G (p.Pro1328=)
|
|
|
NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=)
|
rs770802769
|
|
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=)
|
rs1554805651
|
|
NM_000093.5(COL5A1):c.4005A>G (p.Lys1335=)
|
rs2132853979
|
|
NM_000093.5(COL5A1):c.4014+10C>T
|
rs1434635162
|
|
NM_000093.5(COL5A1):c.4014+12A>G
|
|
|
NM_000093.5(COL5A1):c.4015-13T>G
|
|
|
NM_000093.5(COL5A1):c.4015-18_4015-15del
|
rs1360635637
|
|
NM_000093.5(COL5A1):c.4020A>C (p.Pro1340=)
|
rs776564144
|
|
NM_000093.5(COL5A1):c.4045C>A (p.Pro1349Thr)
|
|
|
NM_000093.5(COL5A1):c.404C>T (p.Ser135Phe)
|
rs201997623
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4053A>C (p.Gly1351=)
|
|
|
NM_000093.5(COL5A1):c.4058C>T (p.Pro1353Leu)
|
|
|
NM_000093.5(COL5A1):c.4068+9T>A
|
rs2132855525
|
|
NM_000093.5(COL5A1):c.4069-17C>T
|
|
|
NM_000093.5(COL5A1):c.4069-6C>T
|
rs756079712
|
|
NM_000093.5(COL5A1):c.4076A>G (p.Asp1359Gly)
|
|
|
NM_000093.5(COL5A1):c.4081C>A (p.Pro1361Thr)
|
|
|
NM_000093.5(COL5A1):c.4083C>A (p.Pro1361=)
|
|
|
NM_000093.5(COL5A1):c.4083C>G (p.Pro1361=)
|
rs868648962
|
|
NM_000093.5(COL5A1):c.4095A>G (p.Lys1365=)
|
|
|
NM_000093.5(COL5A1):c.4122+12A>G
|
|
|
NM_000093.5(COL5A1):c.4123-10C>T
|
rs1057524402
|
|
NM_000093.5(COL5A1):c.4123-11C>T
|
|
|
NM_000093.5(COL5A1):c.4123-17C>A
|
|
|
NM_000093.5(COL5A1):c.4123-4C>T
|
|
|
NM_000093.5(COL5A1):c.4123-6T>A
|
|
|
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=)
|
rs1383677988
|
|
NM_000093.5(COL5A1):c.4176+11C>G
|
|
|
NM_000093.5(COL5A1):c.4176+17G>C
|
|
|
NM_000093.5(COL5A1):c.4176+20C>T
|
rs2132858882
|
|
NM_000093.5(COL5A1):c.4177-11G>C
|
|
|
NM_000093.5(COL5A1):c.4177-16C>G
|
|
|
NM_000093.5(COL5A1):c.4177-18T>C
|
rs922274540
|
|
NM_000093.5(COL5A1):c.4177-8T>G
|
rs1838818747
|
|
NM_000093.5(COL5A1):c.4191C>T (p.Pro1397=)
|
|
|
NM_000093.5(COL5A1):c.4200C>T (p.Pro1400=)
|
rs752468183
|
|
NM_000093.5(COL5A1):c.4230+13G>A
|
|
|
NM_000093.5(COL5A1):c.4230+7T>C
|
|
|
NM_000093.5(COL5A1):c.4231-11C>T
|
|
|
NM_000093.5(COL5A1):c.4231-12G>C
|
|
|
NM_000093.5(COL5A1):c.4231-16C>T
|
rs1057522679
|
|
NM_000093.5(COL5A1):c.4231-7C>G
|
|
|
NM_000093.5(COL5A1):c.4251C>T (p.Gly1417=)
|
|
|
NM_000093.5(COL5A1):c.4252C>T (p.Pro1418Ser)
|
rs796151769
|
|
NM_000093.5(COL5A1):c.4287G>A (p.Gly1429=)
|
rs936839849
|
|
NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=)
|
rs936839849
|
|
NM_000093.5(COL5A1):c.4289C>A (p.Ala1430Asp)
|
|
|
NM_000093.5(COL5A1):c.4326C>A (p.Ile1442=)
|
rs942145911
|
|
NM_000093.5(COL5A1):c.432G>A (p.Thr144=)
|
rs528963362
|
|
NM_000093.5(COL5A1):c.4338+7A>G
|
|
|
NM_000093.5(COL5A1):c.4338+9G>A
|
|
|
NM_000093.5(COL5A1):c.4339-15G>A
|
|
|
NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=)
|
rs1300586902
|
|
NM_000093.5(COL5A1):c.4368C>G (p.Gly1456=)
|
|
|
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn)
|
rs577270517
|
|
NM_000093.5(COL5A1):c.4392+10A>G
|
|
|
NM_000093.5(COL5A1):c.4392+11T>C
|
|
|
NM_000093.5(COL5A1):c.4392+14C>T
|
|
|
NM_000093.5(COL5A1):c.4393-15del
|
|
|
NM_000093.5(COL5A1):c.4393-16C>T
|
|
|
NM_000093.5(COL5A1):c.4393-6C>T
|
rs2132865196
|
|
NM_000093.5(COL5A1):c.441T>C (p.Pro147=)
|
rs1833615155
|
|
NM_000093.5(COL5A1):c.4446+14C>T
|
rs1564481400
|
|
NM_000093.5(COL5A1):c.4446+9G>C
|
|
|
NM_000093.5(COL5A1):c.4447-10T>G
|
rs1227842888
|
|
NM_000093.5(COL5A1):c.4447-16C>T
|
|
|
NM_000093.5(COL5A1):c.4447-17T>C
|
|
|
NM_000093.5(COL5A1):c.4447-18G>A
|
|
|
NM_000093.5(COL5A1):c.4447-19T>C
|
rs1554806958
|
|
NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)
|
|
|
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)
|
rs148669237
|
|
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=)
|
rs148669237
|
|
NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=)
|
rs878853653
|
|
NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)
|
|
|
NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)
|
|
|
NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=)
|
|
|
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
|
|
|
NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=)
|
|
|
NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)
|
|
|
NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser)
|
rs148687561
|
|
NM_000093.5(COL5A1):c.4554+16C>A
|
|
|
NM_000093.5(COL5A1):c.4554+20T>C
|
|
|
NM_000093.5(COL5A1):c.4554+20T>G
|
|
|
NM_000093.5(COL5A1):c.4555-11G>T
|
rs2132874427
|
|
NM_000093.5(COL5A1):c.4555-17T>A
|
|
|
NM_000093.5(COL5A1):c.4555-6T>C
|
rs1588592849
|
|
NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)
|
|
|
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)
|
rs770238710
|
|
NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)
|
|
|
NM_000093.5(COL5A1):c.459C>A (p.Pro153=)
|
rs1588448882
|
|
NM_000093.5(COL5A1):c.459C>T (p.Pro153=)
|
rs1588448882
|
|
NM_000093.5(COL5A1):c.45G>A (p.Pro15=)
|
|
|
NM_000093.5(COL5A1):c.4608+14A>C
|
|
|
NM_000093.5(COL5A1):c.4608+18G>A
|
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|
NM_000093.5(COL5A1):c.4608+18G>C
|
|
|
NM_000093.5(COL5A1):c.4608+19C>G
|
|
|
NM_000093.5(COL5A1):c.4608+7A>G
|
rs1554807494
|
|
NM_000093.5(COL5A1):c.4609-12CT[3]
|
|
|
NM_000093.5(COL5A1):c.4609-15C>T
|
rs769679819
|
|
NM_000093.5(COL5A1):c.4609-6C>T
|
rs1034866420
|
|
NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=)
|
rs1588594834
|
|
NM_000093.5(COL5A1):c.463T>C (p.Phe155Leu)
|
|
|
NM_000093.5(COL5A1):c.4644+10A>G
|
rs373032507
|
|
NM_000093.5(COL5A1):c.4644+20G>C
|
|
|
NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)
|
|
|
NM_000093.5(COL5A1):c.4645-12C>A
|
|
|
NM_000093.5(COL5A1):c.4645-17C>A
|
|
|
NM_000093.5(COL5A1):c.4645-5C>T
|
rs1308872784
|
|
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)
|
rs778312075
|
|
NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)
|
|
|
NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)
|
|
|
NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)
|
|
|
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
|
|
|
NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=)
|
|
|
NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=)
|
rs61735501
|
|
NM_000093.5(COL5A1):c.4695C>G (p.Pro1565=)
|
rs752029679
|
|
NM_000093.5(COL5A1):c.4698+16A>G
|
rs1232246029
|
|
NM_000093.5(COL5A1):c.4698+6dup
|
|
|
NM_000093.5(COL5A1):c.4698+9C>A
|
|
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NM_000093.5(COL5A1):c.4698+9C>T
|
rs753030199
|
|
NM_000093.5(COL5A1):c.4699-14G>A
|
|
|
NM_000093.5(COL5A1):c.4699-19C>T
|
|
|
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
|
|
|
NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)
|
|
|
NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)
|
|
|
NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu)
|
rs531431738
|
|
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=)
|
rs139332528
|
|
NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)
|
|
|
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=)
|
rs1318402758
|
|
NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)
|
|
|
NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr)
|
|
|
NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=)
|
rs2132884435
|
|
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=)
|
rs1588598230
|
|
NM_000093.5(COL5A1):c.4892C>A (p.Thr1631Lys)
|
rs764446683
|
|
NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg)
|
rs764446683
|
|
NM_000093.5(COL5A1):c.491+10C>A
|
rs757598488
|
|
NM_000093.5(COL5A1):c.491+11A>G
|
|
|
NM_000093.5(COL5A1):c.491+20C>T
|
|
|
NM_000093.5(COL5A1):c.491+9G>A
|
rs752150900
|
|
NM_000093.5(COL5A1):c.492-18C>T
|
|
|
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=)
|
rs2132884637
|
|
NM_000093.5(COL5A1):c.4938C>T (p.His1646=)
|
|
|
NM_000093.5(COL5A1):c.4954+11G>C
|
rs957818279
|
|
NM_000093.5(COL5A1):c.4954+11G>T
|
|
|
NM_000093.5(COL5A1):c.4954+15G>T
|
rs2132884821
|
|
NM_000093.5(COL5A1):c.4954+17del
|
|
|
NM_000093.5(COL5A1):c.4955-15G>A
|
|
|
NM_000093.5(COL5A1):c.4955-20T>G
|
|
|
NM_000093.5(COL5A1):c.4968C>G (p.Val1656=)
|
rs201871481
|
|
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=)
|
rs560774273
|
|
NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=)
|
rs560774273
|
|
NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=)
|
|
|
NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)
|
|
|
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
|
|
|
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
|
|
|
NM_000093.5(COL5A1):c.5068-14C>G
|
|
|
NM_000093.5(COL5A1):c.5068-14C>T
|
|
|
NM_000093.5(COL5A1):c.5068-19C>T
|
|
|
NM_000093.5(COL5A1):c.5068-20C>T
|
rs908690867
|
|
NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)
|
|
|
NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=)
|
rs2132907681
|
|
NM_000093.5(COL5A1):c.5136+13C>T
|
rs1839537836
|
|
NM_000093.5(COL5A1):c.5136+15G>A
|
|
|
NM_000093.5(COL5A1):c.5136+16G>T
|
|
|
NM_000093.5(COL5A1):c.5136+18G>A
|
|
|
NM_000093.5(COL5A1):c.5136+8G>C
|
rs770378717
|
|
NM_000093.5(COL5A1):c.5137-12_5137-11del
|
|
|
NM_000093.5(COL5A1):c.5137-18A>G
|
|
|
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
|
|
|
NM_000093.5(COL5A1):c.514G>A (p.Val172Ile)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)
|
|
|
NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser)
|
rs1482037877
|
|
NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=)
|
rs1839798652
|
|
NM_000093.5(COL5A1):c.519C>T (p.His173=)
|
|
|
NM_000093.5(COL5A1):c.5217C>T (p.His1739=)
|
rs869025374
|
|
NM_000093.5(COL5A1):c.5226C>T (p.Val1742=)
|
rs1355725982
|
|
NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser)
|
|
|
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=)
|
rs1564187943
|
|
NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)
|
|
|
NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=)
|
rs753245063
|
|
NM_000093.5(COL5A1):c.531C>G (p.Val177=)
|
|
|
NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=)
|
rs1375535475
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)
|
|
|
NM_000093.5(COL5A1):c.5370+16C>T
|
|
|
NM_000093.5(COL5A1):c.5370+17G>A
|
|
|
NM_000093.5(COL5A1):c.5370+18C>T
|
rs370535777
|
|
NM_000093.5(COL5A1):c.5370+19G>A
|
|
|
NM_000093.5(COL5A1):c.5371-15C>A
|
|
|
NM_000093.5(COL5A1):c.5371-6C>A
|
|
|
NM_000093.5(COL5A1):c.5390A>G (p.Lys1797Arg)
|
|
|
NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu)
|
|
|
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=)
|
rs1002314921
|
|
NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)
|
|
|
NM_000093.5(COL5A1):c.543C>G (p.Leu181=)
|
|
|
NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)
|
|
|
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=)
|
rs367657505
|
|
NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=)
|
rs1060504530
|
|
NM_000093.5(COL5A1):c.561C>G (p.Thr187=)
|
|
|
NM_000093.5(COL5A1):c.576C>T (p.Asp192=)
|
|
|
NM_000093.5(COL5A1):c.58C>T (p.Leu20=)
|
|
|
NM_000093.5(COL5A1):c.597C>T (p.Ile199=)
|
rs147008954
|
|
NM_000093.5(COL5A1):c.611T>C (p.Ile204Thr)
|
rs773693941
|
|
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
|
|
|
NM_000093.5(COL5A1):c.63C>T (p.Pro21=)
|
|
|
NM_000093.5(COL5A1):c.654+14C>T
|
|
|
NM_000093.5(COL5A1):c.655-17C>A
|
|
|
NM_000093.5(COL5A1):c.655-17C>T
|
rs560814216
|
|
NM_000093.5(COL5A1):c.655-20G>T
|
|
|
NM_000093.5(COL5A1):c.655-9C>G
|
|
|
NM_000093.5(COL5A1):c.655-9_655-7del
|
|
|
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
|
|
|
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
|
|
|
NM_000093.5(COL5A1):c.753C>A (p.Thr251=)
|
rs374813957
|
|
NM_000093.5(COL5A1):c.75G>A (p.Leu25=)
|
rs2132455041
|
|
NM_000093.5(COL5A1):c.780T>C (p.Asp260=)
|
rs1588476059
|
|
NM_000093.5(COL5A1):c.786+11T>C
|
|
|
NM_000093.5(COL5A1):c.786+15G>T
|
|
|
NM_000093.5(COL5A1):c.786+18G>A
|
|
|
NM_000093.5(COL5A1):c.786+8_786+12del
|
rs1564414492
|
|
NM_000093.5(COL5A1):c.787-13A>G
|
|
|
NM_000093.5(COL5A1):c.787-15G>T
|
|
|
NM_000093.5(COL5A1):c.787-16del
|
|
|
NM_000093.5(COL5A1):c.787-8G>A
|
rs780803048
|
|
NM_000093.5(COL5A1):c.787-8G>C
|
rs780803048
|
|
NM_000093.5(COL5A1):c.787-8G>T
|
|
|
NM_000093.5(COL5A1):c.787-9C>T
|
rs751472921
|
|
NM_000093.5(COL5A1):c.792G>A (p.Thr264=)
|
rs757360763
|
|
NM_000093.5(COL5A1):c.792G>T (p.Thr264=)
|
rs757360763
|
|
NM_000093.5(COL5A1):c.807G>A (p.Glu269=)
|
|
|
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
|
|
|
NM_000093.5(COL5A1):c.858A>G (p.Leu286=)
|
|
|
NM_000093.5(COL5A1):c.867G>A (p.Glu289=)
|
|
|
NM_000093.5(COL5A1):c.873C>A (p.Thr291=)
|
rs1834751406
|
|
NM_000093.5(COL5A1):c.921C>A (p.Pro307=)
|
|
|
NM_000093.5(COL5A1):c.924+14G>C
|
|
|
NM_000093.5(COL5A1):c.924+15G>A
|
|
|
NM_000093.5(COL5A1):c.924+16G>C
|
|
|
NM_000093.5(COL5A1):c.924+17G>A
|
|
|
NM_000093.5(COL5A1):c.924+18G>A
|
|
|
NM_000093.5(COL5A1):c.925-11T>C
|
|
|
NM_000093.5(COL5A1):c.925-12C>T
|
|
|
NM_000093.5(COL5A1):c.927G>A (p.Glu309=)
|
|
|
NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu)
|
|
|
NM_000093.5(COL5A1):c.957C>T (p.Pro319=)
|
rs2132639092
|
|
NM_000093.5(COL5A1):c.993G>A (p.Glu331=)
|
rs1834830929
|
|
NM_000302.4(PLOD1):c.1038T>G (p.Ser346=)
|
|
|
NM_000302.4(PLOD1):c.1050G>C (p.Val350=)
|
|
|
NM_000302.4(PLOD1):c.1077A>G (p.Ala359=)
|
rs1569713675
|
|
NM_000302.4(PLOD1):c.1097+11G>C
|
|
|
NM_000302.4(PLOD1):c.1097+13C>T
|
|
|
NM_000302.4(PLOD1):c.1097+14C>T
|
|
|
NM_000302.4(PLOD1):c.1097+17A>C
|
|
|
NM_000302.4(PLOD1):c.1097+17A>G
|
|
|
NM_000302.4(PLOD1):c.1097+17A>T
|
|
|
NM_000302.4(PLOD1):c.1097+17dup
|
|
|
NM_000302.4(PLOD1):c.1097+18G>C
|
|
|
NM_000302.4(PLOD1):c.1097+7T>C
|
|
|
NM_000302.4(PLOD1):c.1098-11C>T
|
|
|
NM_000302.4(PLOD1):c.1098-13C>G
|
|
|
NM_000302.4(PLOD1):c.1098-13C>T
|
rs372681138
|
|
NM_000302.4(PLOD1):c.1098-19T>C
|
|
|
NM_000302.4(PLOD1):c.1098-20C>T
|
|
|
NM_000302.4(PLOD1):c.1098-20_1098-19del
|
|
|
NM_000302.4(PLOD1):c.1098-5T>C
|
|
|
NM_000302.4(PLOD1):c.1098-8C>G
|
|
|
NM_000302.4(PLOD1):c.10C>T (p.Leu4=)
|
|
|
NM_000302.4(PLOD1):c.1101C>T (p.Asp367=)
|
|
|
NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)
|
|
|
NM_000302.4(PLOD1):c.114C>T (p.Thr38=)
|
rs11553679
|
|
NM_000302.4(PLOD1):c.1170C>T (p.Pro390=)
|
rs1482515706
|
|
NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)
|
|
|
NM_000302.4(PLOD1):c.1186C>T (p.Leu396=)
|
|
|
NM_000302.4(PLOD1):c.1191C>A (p.Ile397=)
|
rs899107980
|
|
NM_000302.4(PLOD1):c.1202+11T>A
|
|
|
NM_000302.4(PLOD1):c.1202+12C>A
|
|
|
NM_000302.4(PLOD1):c.1202+13C>T
|
|
|
NM_000302.4(PLOD1):c.1202+15T>C
|
|
|
NM_000302.4(PLOD1):c.1202+19C>T
|
|
|
NM_000302.4(PLOD1):c.1202+9G>C
|
|
|
NM_000302.4(PLOD1):c.1203-10C>G
|
rs1569721056
|
|
NM_000302.4(PLOD1):c.1203-13T>C
|
|
|
NM_000302.4(PLOD1):c.1203-16del
|
|
|
NM_000302.4(PLOD1):c.1230G>T (p.Arg410=)
|
|
|
NM_000302.4(PLOD1):c.1233T>C (p.His411=)
|
|
|
NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)
|
|
|
NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)
|
|
|
NM_000302.4(PLOD1):c.1284T>C (p.Tyr428=)
|
|
|
NM_000302.4(PLOD1):c.1305G>A (p.Val435=)
|
|
|
NM_000302.4(PLOD1):c.1321C>A (p.Arg441=)
|
rs11553676
|
|
NM_000302.4(PLOD1):c.1328+16G>A
|
|
|
NM_000302.4(PLOD1):c.1329-13G>A
|
|
|
NM_000302.4(PLOD1):c.1329-6C>T
|
|
|
NM_000302.4(PLOD1):c.1344G>A (p.Val448=)
|
|
|
NM_000302.4(PLOD1):c.1347C>G (p.Pro449=)
|
|
|
NM_000302.4(PLOD1):c.1356A>T (p.Ser452=)
|
|
|
NM_000302.4(PLOD1):c.1359C>T (p.Asn453=)
|
|
|
NM_000302.4(PLOD1):c.1386G>A (p.Leu462=)
|
|
|
NM_000302.4(PLOD1):c.1401G>A (p.Gln467=)
|
rs2100758313
|
|
NM_000302.4(PLOD1):c.1419C>T (p.His473=)
|
|
|
NM_000302.4(PLOD1):c.1437C>T (p.Pro479=)
|
|
|
NM_000302.4(PLOD1):c.1464G>A (p.Arg488=)
|
rs2100758413
|
|
NM_000302.4(PLOD1):c.1470+11A>G
|
rs768467070
|
|
NM_000302.4(PLOD1):c.1470+12G>A
|
|
|
NM_000302.4(PLOD1):c.1470+13C>T
|
|
|
NM_000302.4(PLOD1):c.1470+18A>G
|
|
|
NM_000302.4(PLOD1):c.1471-13C>T
|
|
|
NM_000302.4(PLOD1):c.1471-16G>T
|
|
|
NM_000302.4(PLOD1):c.1471-17G>C
|
|
|
NM_000302.4(PLOD1):c.1471-17G>T
|
|
|
NM_000302.4(PLOD1):c.1471-18del
|
|
|
NM_000302.4(PLOD1):c.1471-20A>G
|
|
|
NM_000302.4(PLOD1):c.1471-4C>T
|
|
|
NM_000302.4(PLOD1):c.1471-8C>G
|
|
|
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT
|
rs1553136318
|
|
NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)
|
|
|
NM_000302.4(PLOD1):c.1494C>T (p.Asn498=)
|
rs1645810603
|
|
NM_000302.4(PLOD1):c.1546C>T (p.Leu516=)
|
|
|
NM_000302.4(PLOD1):c.1548G>C (p.Leu516=)
|
|
|
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
|
|
|
NM_000302.4(PLOD1):c.1578C>T (p.Asn526=)
|
|
|
NM_000302.4(PLOD1):c.1584+11G>C
|
|
|
NM_000302.4(PLOD1):c.1584+12G>T
|
|
|
NM_000302.4(PLOD1):c.1584+16G>A
|
|
|
NM_000302.4(PLOD1):c.1584+20A>G
|
|
|
NM_000302.4(PLOD1):c.1585-11A>T
|
|
|
NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]
|
|
|
NM_000302.4(PLOD1):c.1585-19T>C
|
rs1645816365
|
|
NM_000302.4(PLOD1):c.1585-5C>A
|
|
|
NM_000302.4(PLOD1):c.1585-7C>T
|
|
|
NM_000302.4(PLOD1):c.1585-9T>G
|
|
|
NM_000302.4(PLOD1):c.159C>T (p.Tyr53=)
|
rs1569682156
|
|
NM_000302.4(PLOD1):c.1605C>T (p.Ile535=)
|
|
|
NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)
|
|
|
NM_000302.4(PLOD1):c.1627C>T (p.Leu543=)
|
|
|
NM_000302.4(PLOD1):c.1632A>T (p.Ala544=)
|
|
|
NM_000302.4(PLOD1):c.1635G>A (p.Gly545=)
|
rs2100760044
|
|
NM_000302.4(PLOD1):c.1638G>A (p.Lys546=)
|
rs1569726862
|
|
NM_000302.4(PLOD1):c.1650+11T>C
|
|
|
NM_000302.4(PLOD1):c.1650+12G>A
|
|
|
NM_000302.4(PLOD1):c.1650+13del
|
|
|
NM_000302.4(PLOD1):c.1650+15C>T
|
|
|
NM_000302.4(PLOD1):c.1650+16_1650+19del
|
|
|
NM_000302.4(PLOD1):c.1650+18C>A
|
|
|
NM_000302.4(PLOD1):c.1650+19C>T
|
|
|
NM_000302.4(PLOD1):c.1650+20T>C
|
|
|
NM_000302.4(PLOD1):c.1650+8C>T
|
|
|
NM_000302.4(PLOD1):c.1651-16T>A
|
|
|
NM_000302.4(PLOD1):c.1651-19G>A
|
|
|
NM_000302.4(PLOD1):c.1653C>A (p.Pro551=)
|
|
|
NM_000302.4(PLOD1):c.1665C>T (p.Val555=)
|
|
|
NM_000302.4(PLOD1):c.168+16G>A
|
|
|
NM_000302.4(PLOD1):c.168+9T>C
|
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
NM_000302.4(PLOD1):c.169-12G>A
|
|
|
NM_000302.4(PLOD1):c.169-16G>A
|
|
|
NM_000302.4(PLOD1):c.169-17G>A
|
|
|
NM_000302.4(PLOD1):c.169-4C>T
|
|
|
NM_000302.4(PLOD1):c.1692G>A (p.Val564=)
|
|
|
NM_000302.4(PLOD1):c.1710G>A (p.Val570=)
|
|
|
NM_000302.4(PLOD1):c.1713G>A (p.Glu571=)
|
|
|
NM_000302.4(PLOD1):c.171G>A (p.Ala57=)
|
|
|
NM_000302.4(PLOD1):c.1722G>A (p.Glu574=)
|
|
|
NM_000302.4(PLOD1):c.174T>G (p.Leu58=)
|
rs2100743311
|
|
NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)
|
|
|
NM_000302.4(PLOD1):c.1755+20G>T
|
|
|
NM_000302.4(PLOD1):c.1755+9C>G
|
|
|
NM_000302.4(PLOD1):c.1755+9C>T
|
|
|
NM_000302.4(PLOD1):c.1756-12G>T
|
|
|
NM_000302.4(PLOD1):c.1756-13C>G
|
|
|
NM_000302.4(PLOD1):c.1756-15C>G
|
|
|
NM_000302.4(PLOD1):c.1756-6C>A
|
|
|
NM_000302.4(PLOD1):c.1756-7C>T
|
|
|
NM_000302.4(PLOD1):c.1756-9C>T
|
|
|
NM_000302.4(PLOD1):c.1764C>T (p.Arg588=)
|
|
|
NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)
|
|
|
NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=)
|
|
|
NM_000302.4(PLOD1):c.1785C>T (p.Asn595=)
|
|
|
NM_000302.4(PLOD1):c.1791G>A (p.Pro597=)
|
rs151051718
|
|
NM_000302.4(PLOD1):c.1791G>C (p.Pro597=)
|
rs151051718
|
|
NM_000302.4(PLOD1):c.1794T>G (p.Thr598=)
|
rs773916889
|
|
NM_000302.4(PLOD1):c.1800C>T (p.Asp600=)
|
|
|
NM_000302.4(PLOD1):c.1803C>T (p.Ile601=)
|
|
|
NM_000302.4(PLOD1):c.1806C>T (p.His602=)
|
|
|
NM_000302.4(PLOD1):c.180A>G (p.Leu60=)
|
|
|
NM_000302.4(PLOD1):c.1815G>A (p.Gln605=)
|
|
|
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=)
|
rs372579008
|
|
NM_000302.4(PLOD1):c.1833G>A (p.Glu611=)
|
|
|
NM_000302.4(PLOD1):c.183G>A (p.Gly61=)
|
|
|
NM_000302.4(PLOD1):c.1863G>A (p.Ala621=)
|
rs912522044
|
|
NM_000302.4(PLOD1):c.1866C>G (p.Pro622=)
|
|
|
NM_000302.4(PLOD1):c.1866C>T (p.Pro622=)
|
|
|
NM_000302.4(PLOD1):c.1878G>A (p.Lys626=)
|
|
|
NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)
|
|
|
NM_000302.4(PLOD1):c.1887C>G (p.Pro629=)
|
|
|
NM_000302.4(PLOD1):c.1896C>T (p.Tyr632=)
|
|
|
NM_000302.4(PLOD1):c.189C>T (p.Asp63=)
|
rs1259023201
|
|
NM_000302.4(PLOD1):c.1903-12G>C
|
|
|
NM_000302.4(PLOD1):c.1903-15C>T
|
|
|
NM_000302.4(PLOD1):c.1903-17C>T
|
|
|
NM_000302.4(PLOD1):c.1903-18C>A
|
rs750758605
|
|
NM_000302.4(PLOD1):c.1903-18C>T
|
rs750758605
|
|
NM_000302.4(PLOD1):c.1903-20del
|
|
|
NM_000302.4(PLOD1):c.1905C>G (p.Ala635=)
|
|
|
NM_000302.4(PLOD1):c.1905C>T (p.Ala635=)
|
|
|
NM_000302.4(PLOD1):c.1908G>A (p.Gln636=)
|
|
|
NM_000302.4(PLOD1):c.1911T>C (p.Phe637=)
|
|
|
NM_000302.4(PLOD1):c.1929C>T (p.Val643=)
|
rs752137195
|
|
NM_000302.4(PLOD1):c.1947G>A (p.Glu649=)
|
|
|
NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)
|
|
|
NM_000302.4(PLOD1):c.1968C>T (p.His656=)
|
|
|
NM_000302.4(PLOD1):c.1971T>C (p.His657=)
|
|
|
NM_000302.4(PLOD1):c.1977C>T (p.Ala659=)
|
|
|
NM_000302.4(PLOD1):c.1986C>T (p.Phe662=)
|
|
|
NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=)
|
|
|
NM_000302.4(PLOD1):c.2028+12C>A
|
|
|
NM_000302.4(PLOD1):c.2028+12C>G
|
|
|
NM_000302.4(PLOD1):c.2028+16C>G
|
|
|
NM_000302.4(PLOD1):c.2028+17C>G
|
|
|
NM_000302.4(PLOD1):c.2028+18G>A
|
|
|
NM_000302.4(PLOD1):c.2028+7A>C
|
|
|
NM_000302.4(PLOD1):c.2029-20T>C
|
|
|
NM_000302.4(PLOD1):c.2029-20T>G
|
|
|
NM_000302.4(PLOD1):c.2029-3del
|
rs1273287120
|
|
NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)
|
|
|
NM_000302.4(PLOD1):c.2034G>A (p.Gly678=)
|
|
|
NM_000302.4(PLOD1):c.2043G>T (p.Arg681=)
|
rs2100768727
|
|
NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=)
|
|
|
NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)
|
|
|
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
|
|
|
NM_000302.4(PLOD1):c.2115G>A (p.Thr705=)
|
|
|
NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)
|
|
|
NM_000302.4(PLOD1):c.2130G>A (p.Gly710=)
|
|
|
NM_000302.4(PLOD1):c.2136C>A (p.Pro712=)
|
|
|
NM_000302.4(PLOD1):c.2136C>T (p.Pro712=)
|
|
|
NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)
|
|
|
NM_000302.4(PLOD1):c.213G>A (p.Ser71=)
|
|
|
NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)
|
|
|
NM_000302.4(PLOD1):c.2163A>C (p.Ala721=)
|
|
|
NM_000302.4(PLOD1):c.2169C>T (p.Ser723=)
|
|
|
NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)
|
|
|
NM_000302.4(PLOD1):c.25C>T (p.Leu9=)
|
|
|
NM_000302.4(PLOD1):c.264C>T (p.His88=)
|
|
|
NM_000302.4(PLOD1):c.297A>G (p.Ala99=)
|
rs2100743542
|
|
NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA
|
|
|
NM_000302.4(PLOD1):c.303-13G>C
|
|
|
NM_000302.4(PLOD1):c.303-14T>C
|
|
|
NM_000302.4(PLOD1):c.303-17C>T
|
|
|
NM_000302.4(PLOD1):c.303-18T>G
|
rs2100743986
|
|
NM_000302.4(PLOD1):c.303-18_303-17del
|
rs2100743981
|
|
NM_000302.4(PLOD1):c.303-20T>G
|
|
|
NM_000302.4(PLOD1):c.303-6C>T
|
rs2100744004
|
|
NM_000302.4(PLOD1):c.30G>A (p.Leu10=)
|
rs886039113
|
|
NM_000302.4(PLOD1):c.312G>C (p.Val104=)
|
|
|
NM_000302.4(PLOD1):c.313C>T (p.Leu105=)
|
rs1557487050
|
|
NM_000302.4(PLOD1):c.315G>A (p.Leu105=)
|
|
|
NM_000302.4(PLOD1):c.33C>T (p.Gly11=)
|
rs2100729686
|
|
NM_000302.4(PLOD1):c.340C>T (p.Leu114=)
|
|
|
NM_000302.4(PLOD1):c.345G>A (p.Lys115=)
|
|
|
NM_000302.4(PLOD1):c.351C>T (p.Phe117=)
|
|
|
NM_000302.4(PLOD1):c.360C>G (p.Ala120=)
|
|
|
NM_000302.4(PLOD1):c.384T>G (p.Ala128=)
|
|
|
NM_000302.4(PLOD1):c.396C>T (p.Ile132=)
|
rs999062403
|
|
NM_000302.4(PLOD1):c.417G>A (p.Glu139=)
|
|
|
NM_000302.4(PLOD1):c.423G>A (p.Lys141=)
|
|
|
NM_000302.4(PLOD1):c.429G>A (p.Pro143=)
|
|
|
NM_000302.4(PLOD1):c.429G>T (p.Pro143=)
|
|
|
NM_000302.4(PLOD1):c.466+10C>G
|
|
|
NM_000302.4(PLOD1):c.466+13G>T
|
|
|
NM_000302.4(PLOD1):c.466+20G>A
|
|
|
NM_000302.4(PLOD1):c.466+7G>A
|
|
|
NM_000302.4(PLOD1):c.467-12A>G
|
|
|
NM_000302.4(PLOD1):c.467-13_467-6del
|
|
|
NM_000302.4(PLOD1):c.467-14C>T
|
|
|
NM_000302.4(PLOD1):c.467-19C>T
|
|
|
NM_000302.4(PLOD1):c.467-20C>T
|
rs1645710680
|
|
NM_000302.4(PLOD1):c.467-6C>A
|
|
|
NM_000302.4(PLOD1):c.467-8A>C
|
|
|
NM_000302.4(PLOD1):c.474C>A (p.Ile158=)
|
|
|
NM_000302.4(PLOD1):c.474C>T (p.Ile158=)
|
|
|
NM_000302.4(PLOD1):c.486C>A (p.Pro162=)
|
|
|
NM_000302.4(PLOD1):c.48C>T (p.Ala16=)
|
|
|
NM_000302.4(PLOD1):c.507C>T (p.Ala169=)
|
|
|
NM_000302.4(PLOD1):c.510G>A (p.Glu170=)
|
|
|
NM_000302.4(PLOD1):c.528C>T (p.Ser176=)
|
|
|
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.541C>T (p.Leu181=)
|
|
|
NM_000302.4(PLOD1):c.543G>C (p.Leu181=)
|
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000302.4(PLOD1):c.558C>T (p.Ile186=)
|
|
|
NM_000302.4(PLOD1):c.567C>T (p.Asp189=)
|
|
|
NM_000302.4(PLOD1):c.576G>A (p.Lys192=)
|
rs1645712079
|
|
NM_000302.4(PLOD1):c.579+12T>C
|
|
|
NM_000302.4(PLOD1):c.579+8G>A
|
|
|
NM_000302.4(PLOD1):c.579+8G>T
|
|
|
NM_000302.4(PLOD1):c.580-10T>C
|
rs1645726829
|
|
NM_000302.4(PLOD1):c.580-11C>G
|
|
|
NM_000302.4(PLOD1):c.580-12T>A
|
|
|
NM_000302.4(PLOD1):c.580-13T>G
|
|
|
NM_000302.4(PLOD1):c.580-16A>G
|
|
|
NM_000302.4(PLOD1):c.580-19G>A
|
|
|
NM_000302.4(PLOD1):c.580-20T>G
|
|
|
NM_000302.4(PLOD1):c.580-4G>T
|
|
|
NM_000302.4(PLOD1):c.580-7C>T
|
|
|
NM_000302.4(PLOD1):c.582G>A (p.Glu194=)
|
|
|
NM_000302.4(PLOD1):c.598C>T (p.Leu200=)
|
|
|
NM_000302.4(PLOD1):c.603C>T (p.Asp201=)
|
|
|
NM_000302.4(PLOD1):c.609C>G (p.Arg203=)
|
|
|
NM_000302.4(PLOD1):c.60C>T (p.Gly20=)
|
|
|
NM_000302.4(PLOD1):c.618C>A (p.Ile206=)
|
|
|
NM_000302.4(PLOD1):c.624G>A (p.Gln208=)
|
|
|
NM_000302.4(PLOD1):c.627C>T (p.Asn209=)
|
rs2100748753
|
|
NM_000302.4(PLOD1):c.628C>T (p.Leu210=)
|
|
|
NM_000302.4(PLOD1):c.639C>T (p.Ala213=)
|
|
|
NM_000302.4(PLOD1):c.643+10C>T
|
|
|
NM_000302.4(PLOD1):c.643+12C>T
|
|
|
NM_000302.4(PLOD1):c.643+13C>G
|
|
|
NM_000302.4(PLOD1):c.643+16G>C
|
|
|
NM_000302.4(PLOD1):c.643+19G>A
|
|
|
NM_000302.4(PLOD1):c.643+20A>T
|
|
|
NM_000302.4(PLOD1):c.644-15C>T
|
|
|
NM_000302.4(PLOD1):c.644-17_644-16del
|
rs755109500
|
|
NM_000302.4(PLOD1):c.644-18G>A
|
|
|
NM_000302.4(PLOD1):c.648G>A (p.Glu216=)
|
rs150852515
|
|
NM_000302.4(PLOD1):c.651C>G (p.Val217=)
|
|
|
NM_000302.4(PLOD1):c.654G>A (p.Val218=)
|
|
|
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
|
rs566018612
|
|
NM_000302.4(PLOD1):c.711G>A (p.Pro237=)
|
|
|
NM_000302.4(PLOD1):c.720C>T (p.Ile240=)
|
rs770749842
|
|
NM_000302.4(PLOD1):c.723T>C (p.His241=)
|
rs2100750549
|
|
NM_000302.4(PLOD1):c.726C>T (p.Gly242=)
|
|
|
NM_000302.4(PLOD1):c.729C>T (p.Asn243=)
|
|
|
NM_000302.4(PLOD1):c.72G>A (p.Pro24=)
|
rs1645566983
|
|
NM_000302.4(PLOD1):c.72G>T (p.Pro24=)
|
|
|
NM_000302.4(PLOD1):c.741+11C>T
|
|
|
NM_000302.4(PLOD1):c.741+12C>T
|
|
|
NM_000302.4(PLOD1):c.741+13C>G
|
|
|
NM_000302.4(PLOD1):c.741+13C>T
|
rs2100750594
|
|
NM_000302.4(PLOD1):c.741+16C>T
|
|
|
NM_000302.4(PLOD1):c.741+19C>G
|
|
|
NM_000302.4(PLOD1):c.741+8G>T
|
|
|
NM_000302.4(PLOD1):c.742-13G>A
|
|
|
NM_000302.4(PLOD1):c.742-14C>A
|
|
|
NM_000302.4(PLOD1):c.742-14C>T
|
|
|
NM_000302.4(PLOD1):c.742-9C>A
|
|
|
NM_000302.4(PLOD1):c.744G>A (p.Leu248=)
|
|
|
NM_000302.4(PLOD1):c.759G>A (p.Leu253=)
|
|
|
NM_000302.4(PLOD1):c.759G>C (p.Leu253=)
|
rs762271097
|
|
NM_000302.4(PLOD1):c.76+10C>T
|
rs2100729726
|
|
NM_000302.4(PLOD1):c.76+11G>A
|
|
|
NM_000302.4(PLOD1):c.76+13A>C
|
|
|
NM_000302.4(PLOD1):c.76+14G>A
|
|
|
NM_000302.4(PLOD1):c.76+15G>T
|
|
|
NM_000302.4(PLOD1):c.76+19G>A
|
|
|
NM_000302.4(PLOD1):c.76+20G>A
|
|
|
NM_000302.4(PLOD1):c.77-13C>A
|
|
|
NM_000302.4(PLOD1):c.77-13C>T
|
|
|
NM_000302.4(PLOD1):c.77-16C>T
|
|
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NM_000302.4(PLOD1):c.77-17C>A
|
|
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NM_000302.4(PLOD1):c.77-17C>T
|
rs748925361
|
|
NM_000302.4(PLOD1):c.77-18A>G
|
|
|
NM_000302.4(PLOD1):c.77-19T>C
|
|
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NM_000302.4(PLOD1):c.77-20A>C
|
|
|
NM_000302.4(PLOD1):c.77-20A>G
|
|
|
NM_000302.4(PLOD1):c.77-6C>G
|
|
|
NM_000302.4(PLOD1):c.771C>T (p.Ile257=)
|
|
|
NM_000302.4(PLOD1):c.777C>T (p.Arg259=)
|
rs1473839953
|
|
NM_000302.4(PLOD1):c.825C>T (p.Arg275=)
|
|
|
NM_000302.4(PLOD1):c.828C>T (p.Ser276=)
|
|
|
NM_000302.4(PLOD1):c.843+11G>A
|
|
|
NM_000302.4(PLOD1):c.843+14C>T
|
|
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NM_000302.4(PLOD1):c.843+15A>G
|
|
|
NM_000302.4(PLOD1):c.844-10C>T
|
rs2100752088
|
|
NM_000302.4(PLOD1):c.844-12T>C
|
|
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NM_000302.4(PLOD1):c.844-13C>T
|
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NM_000302.4(PLOD1):c.844-14C>T
|
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NM_000302.4(PLOD1):c.844-15C>T
|
|
|
NM_000302.4(PLOD1):c.844-16G>T
|
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NM_000302.4(PLOD1):c.844-17C>T
|
|
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NM_000302.4(PLOD1):c.844-6G>C
|
|
|
NM_000302.4(PLOD1):c.844-9C>T
|
|
|
NM_000302.4(PLOD1):c.855G>A (p.Leu285=)
|
|
|
NM_000302.4(PLOD1):c.858C>T (p.Pro286=)
|
|
|
NM_000302.4(PLOD1):c.861G>T (p.Thr287=)
|
|
|
NM_000302.4(PLOD1):c.864C>T (p.Val288=)
|
|
|
NM_000302.4(PLOD1):c.873C>A (p.Gly291=)
|
|
|
NM_000302.4(PLOD1):c.876G>A (p.Val292=)
|
|
|
NM_000302.4(PLOD1):c.907C>T (p.Leu303=)
|
|
|
NM_000302.4(PLOD1):c.90C>T (p.Val30=)
|
|
|
NM_000302.4(PLOD1):c.921G>A (p.Arg307=)
|
rs754534604
|
|
NM_000302.4(PLOD1):c.942C>G (p.Pro314=)
|
|
|
NM_000302.4(PLOD1):c.955C>A (p.Arg319=)
|
|
|
NM_000302.4(PLOD1):c.963C>T (p.Phe321=)
|
rs2100752293
|
|
NM_000302.4(PLOD1):c.96G>A (p.Thr32=)
|
|
|
NM_000302.4(PLOD1):c.976-14A>G
|
|
|
NM_000302.4(PLOD1):c.976-15C>A
|
|
|
NM_000302.4(PLOD1):c.976-17C>T
|
|
|
NM_000302.4(PLOD1):c.976-18C>T
|
|
|
NM_000302.4(PLOD1):c.999G>A (p.Val333=)
|
|
|
NM_000302.4(PLOD1):c.9C>T (p.Pro3=)
|
|
|
NM_000393.5(COL5A2):c.1005+7G>A
|
rs1402008959
|
|
NM_000393.5(COL5A2):c.1006-11A>G
|
|
|
NM_000393.5(COL5A2):c.1006-19del
|
|
|
NM_000393.5(COL5A2):c.1006-20T>C
|
|
|
NM_000393.5(COL5A2):c.1035G>A (p.Gly345=)
|
|
|
NM_000393.5(COL5A2):c.1059+11_1059+12del
|
|
|
NM_000393.5(COL5A2):c.1059+8T>G
|
|
|
NM_000393.5(COL5A2):c.1060-7T>C
|
rs754055737
|
|
NM_000393.5(COL5A2):c.1074A>C (p.Ala358=)
|
|
|
NM_000393.5(COL5A2):c.10A>G (p.Asn4Asp)
|
|
|
NM_000393.5(COL5A2):c.1105-11T>G
|
rs1057523251
|
|
NM_000393.5(COL5A2):c.1105-13T>A
|
|
|
NM_000393.5(COL5A2):c.1119A>G (p.Ile373Met)
|
|
|
NM_000393.5(COL5A2):c.1122A>G (p.Pro374=)
|
|
|
NM_000393.5(COL5A2):c.1158+20A>G
|
|
|
NM_000393.5(COL5A2):c.1159-11C>T
|
|
|
NM_000393.5(COL5A2):c.1159-12G>C
|
|
|
NM_000393.5(COL5A2):c.1159-16C>T
|
|
|
NM_000393.5(COL5A2):c.1159-18C>T
|
|
|
NM_000393.5(COL5A2):c.1159-8C>T
|
rs1273116792
|
|
NM_000393.5(COL5A2):c.1165G>T (p.Ala389Ser)
|
|
|
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=)
|
rs1553515878
|
|
NM_000393.5(COL5A2):c.117A>T (p.Ile39=)
|
rs1060504379
|
|
NM_000393.5(COL5A2):c.1190C>T (p.Pro397Leu)
|
rs1189039397
|
|
NM_000393.5(COL5A2):c.1203G>A (p.Gln401=)
|
|
|
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser)
|
rs1042644306
|
|
NM_000393.5(COL5A2):c.1244C>G (p.Ser415Cys)
|
|
|
NM_000393.5(COL5A2):c.1257+11A>G
|
|
|
NM_000393.5(COL5A2):c.1257+12G>A
|
rs759316090
|
|
NM_000393.5(COL5A2):c.1257+13C>A
|
|
|
NM_000393.5(COL5A2):c.1302+17T>C
|
|
|
NM_000393.5(COL5A2):c.1302+20C>T
|
|
|
NM_000393.5(COL5A2):c.1303-8T>C
|
|
|
NM_000393.5(COL5A2):c.1308T>C (p.Ser436=)
|
|
|
NM_000393.5(COL5A2):c.1350A>T (p.Gly450=)
|
|
|
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro)
|
rs548441536
|
|
NM_000393.5(COL5A2):c.1402-10T>A
|
|
|
NM_000393.5(COL5A2):c.1402-13A>G
|
|
|
NM_000393.5(COL5A2):c.1402-17C>T
|
|
|
NM_000393.5(COL5A2):c.1402-5T>C
|
|
|
NM_000393.5(COL5A2):c.1443A>C (p.Pro481=)
|
rs1686160458
|
|
NM_000393.5(COL5A2):c.1455+20A>T
|
rs2105600190
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1456-11G>A
|
|
|
NM_000393.5(COL5A2):c.1456-16C>T
|
|
|
NM_000393.5(COL5A2):c.1456-17C>A
|
|
|
NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)
|
|
|
NM_000393.5(COL5A2):c.1459C>T (p.Pro487Ser)
|
|
|
NM_000393.5(COL5A2):c.1464T>C (p.His488=)
|
|
|
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
|
|
|
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1494T>C (p.Gly498=)
|
|
|
NM_000393.5(COL5A2):c.1514C>T (p.Pro505Leu)
|
rs1234716349
|
|
NM_000393.5(COL5A2):c.1532C>G (p.Thr511Arg)
|
|
|
NM_000393.5(COL5A2):c.1563+11A>G
|
|
|
NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)
|
|
|
NM_000393.5(COL5A2):c.1596T>G (p.Ser532=)
|
|
|
NM_000393.5(COL5A2):c.1617+12del
|
|
|
NM_000393.5(COL5A2):c.1617+17A>G
|
|
|
NM_000393.5(COL5A2):c.1617+8T>G
|
|
|
NM_000393.5(COL5A2):c.1617+9G>A
|
|
|
NM_000393.5(COL5A2):c.1625A>T (p.Gln542Leu)
|
|
|
NM_000393.5(COL5A2):c.1626A>G (p.Gln542=)
|
rs745880832
|
|
NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)
|
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1674G>T (p.Gly558=)
|
|
|
NM_000393.5(COL5A2):c.1680A>C (p.Pro560=)
|
|
|
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser)
|
rs372910621
|
|
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=)
|
rs1576503230
|
|
NM_000393.5(COL5A2):c.1717-10T>G
|
|
|
NM_000393.5(COL5A2):c.1717-15G>T
|
|
|
NM_000393.5(COL5A2):c.1770+12A>T
|
rs915090349
|
|
NM_000393.5(COL5A2):c.1770+14A>G
|
|
|
NM_000393.5(COL5A2):c.1771-7T>A
|
|
|
NM_000393.5(COL5A2):c.1771-7_1771-6insTA
|
rs777484785
|
|
NM_000393.5(COL5A2):c.1773T>A (p.Gly591=)
|
rs2105591117
|
|
NM_000393.5(COL5A2):c.1775C>G (p.Ala592Gly)
|
|
|
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)
|
rs145169816
|
|
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
|
|
|
NM_000393.5(COL5A2):c.1809C>A (p.Gly603=)
|
|
|
NM_000393.5(COL5A2):c.180G>A (p.Gln60=)
|
rs759303686
|
|
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=)
|
rs1576502365
|
|
NM_000393.5(COL5A2):c.1830G>A (p.Gln610=)
|
|
|
NM_000393.5(COL5A2):c.1832C>T (p.Pro611Leu)
|
|
|
NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)
|
|
|
NM_000393.5(COL5A2):c.1854C>A (p.Gly618=)
|
|
|
NM_000393.5(COL5A2):c.1869+14A>G
|
|
|
NM_000393.5(COL5A2):c.1869+16A>G
|
|
|
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
|
|
|
NM_000393.5(COL5A2):c.1954C>A (p.Pro652Thr)
|
|
|
NM_000393.5(COL5A2):c.1955C>T (p.Pro652Leu)
|
rs766743234
|
|
NM_000393.5(COL5A2):c.1959T>C (p.Ser653=)
|
|
|
NM_000393.5(COL5A2):c.1971C>T (p.Gly657=)
|
rs1686065633
|
|
NM_000393.5(COL5A2):c.1974G>A (p.Pro658=)
|
|
|
NM_000393.5(COL5A2):c.1977+10T>C
|
|
|
NM_000393.5(COL5A2):c.1977+13dup
|
|
|
NM_000393.5(COL5A2):c.1977+8A>G
|
|
|
NM_000393.5(COL5A2):c.1977+9T>C
|
|
|
NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)
|
|
|
NM_000393.5(COL5A2):c.2013A>G (p.Pro671=)
|
rs2105586702
|
|
NM_000393.5(COL5A2):c.2019C>T (p.Pro673=)
|
rs2105586689
|
|
NM_000393.5(COL5A2):c.2032-13A>T
|
|
|
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=)
|
rs1553515128
|
|
NM_000393.5(COL5A2):c.2061A>C (p.Gly687=)
|
rs2105584664
|
|
NM_000393.5(COL5A2):c.2085+10T>C
|
|
|
NM_000393.5(COL5A2):c.2085+19A>G
|
rs2105584543
|
|
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
|
|
|
NM_000393.5(COL5A2):c.2130+13A>G
|
|
|
NM_000393.5(COL5A2):c.2130+16T>G
|
|
|
NM_000393.5(COL5A2):c.2131-15C>A
|
|
|
NM_000393.5(COL5A2):c.2151G>A (p.Gly717=)
|
|
|
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=)
|
rs1272808206
|
|
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=)
|
rs1307423893
|
|
NM_000393.5(COL5A2):c.2193G>A (p.Lys731=)
|
|
|
NM_000393.5(COL5A2):c.2229+14T>G
|
|
|
NM_000393.5(COL5A2):c.2229+15G>A
|
|
|
NM_000393.5(COL5A2):c.2229+8T>C
|
|
|
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=)
|
rs928855762
|
|
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
|
|
|
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=)
|
rs369130743
|
|
NM_000393.5(COL5A2):c.2310A>G (p.Ala770=)
|
|
|
NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)
|
|
|
NM_000393.5(COL5A2):c.2329G>T (p.Gly777Cys)
|
|
|
NM_000393.5(COL5A2):c.2337+11T>C
|
|
|
NM_000393.5(COL5A2):c.2337+18_2337+29del
|
|
|
NM_000393.5(COL5A2):c.2337+8C>T
|
rs999144463
|
|
NM_000393.5(COL5A2):c.2337+8_2337+10del
|
|
|
NM_000393.5(COL5A2):c.2337+8_2337+11del
|
rs2105574989
|
|
NM_000393.5(COL5A2):c.2338-12G>T
|
|
|
NM_000393.5(COL5A2):c.2338-15T>G
|
|
|
NM_000393.5(COL5A2):c.2340T>A (p.Gly780=)
|
|
|
NM_000393.5(COL5A2):c.2392-15_2392-14insTGTTG
|
|
|
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
|
|
|
NM_000393.5(COL5A2):c.2445+15G>A
|
rs767821578
|
|
NM_000393.5(COL5A2):c.2445+19A>C
|
|
|
NM_000393.5(COL5A2):c.2445+8A>G
|
|
|
NM_000393.5(COL5A2):c.2446-11C>T
|
|
|
NM_000393.5(COL5A2):c.2446-5T>C
|
rs1685846142
|
|
NM_000393.5(COL5A2):c.2446-7T>C
|
rs1685846268
|
|
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=)
|
rs749675749
|
|
NM_000393.5(COL5A2):c.2493C>G (p.Gly831=)
|
|
|
NM_000393.5(COL5A2):c.2499+10A>G
|
rs886055356
|
|
NM_000393.5(COL5A2):c.2499+16_2499+17dup
|
|
|
NM_000393.5(COL5A2):c.2499+19G>C
|
|
|
NM_000393.5(COL5A2):c.2499+8A>G
|
|
|
NM_000393.5(COL5A2):c.2499+9C>G
|
|
|
NM_000393.5(COL5A2):c.2500-14_2500-13del
|
rs2105565157
|
|
NM_000393.5(COL5A2):c.2500-16C>G
|
|
|
NM_000393.5(COL5A2):c.2500-5C>T
|
rs1306555149
|
|
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly)
|
rs367718811
|
|
NM_000393.5(COL5A2):c.250G>C (p.Asp84His)
|
rs745528957
|
|
NM_000393.5(COL5A2):c.2538T>A (p.Gly846=)
|
|
|
NM_000393.5(COL5A2):c.2553+11C>T
|
|
|
NM_000393.5(COL5A2):c.2553+20C>T
|
|
|
NM_000393.5(COL5A2):c.2554-10T>A
|
|
|
NM_000393.5(COL5A2):c.2571T>C (p.Pro857=)
|
|
|
NM_000393.5(COL5A2):c.2598A>G (p.Pro866=)
|
rs757721541
|
|
NM_000393.5(COL5A2):c.2614G>T (p.Ala872Ser)
|
|
|
NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)
|
|
|
NM_000393.5(COL5A2):c.2661+10C>A
|
|
|
NM_000393.5(COL5A2):c.2661+10C>T
|
|
|
NM_000393.5(COL5A2):c.2661+11A>G
|
|
|
NM_000393.5(COL5A2):c.2661+16_2661+17insCTTGAGTC
|
|
|
NM_000393.5(COL5A2):c.2661+20G>T
|
rs79623676
|
|
NM_000393.5(COL5A2):c.2662-16G>C
|
|
|
NM_000393.5(COL5A2):c.2662-6A>G
|
|
|
NM_000393.5(COL5A2):c.2703C>A (p.Thr901=)
|
|
|
NM_000393.5(COL5A2):c.2715+14A>G
|
|
|
NM_000393.5(COL5A2):c.2715+15T>C
|
|
|
NM_000393.5(COL5A2):c.2716-20A>G
|
|
|
NM_000393.5(COL5A2):c.273A>G (p.Glu91=)
|
|
|
NM_000393.5(COL5A2):c.2769+13A>C
|
|
|
NM_000393.5(COL5A2):c.2769+14G>C
|
|
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NM_000393.5(COL5A2):c.2769+20C>T
|
|
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NM_000393.5(COL5A2):c.2770-14_2770-11del
|
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NM_000393.5(COL5A2):c.2770-14del
|
|
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NM_000393.5(COL5A2):c.2770-18C>T
|
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NM_000393.5(COL5A2):c.2770-4C>T
|
rs1576494559
|
|
NM_000393.5(COL5A2):c.27A>G (p.Arg9=)
|
|
|
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=)
|
rs1576494477
|
|
NM_000393.5(COL5A2):c.2830C>T (p.Arg944Cys)
|
|
|
NM_000393.5(COL5A2):c.2835G>A (p.Gly945=)
|
|
|
NM_000393.5(COL5A2):c.2859G>A (p.Val953=)
|
rs1685784025
|
|
NM_000393.5(COL5A2):c.2880C>T (p.Gly960=)
|
|
|
NM_000393.5(COL5A2):c.2892C>A (p.Gly964=)
|
|
|
NM_000393.5(COL5A2):c.2892C>T (p.Gly964=)
|
rs2105558761
|
|
NM_000393.5(COL5A2):c.2901C>T (p.Asp967=)
|
rs2105558694
|
|
NM_000393.5(COL5A2):c.2907G>C (p.Gly969=)
|
rs2105558672
|
|
NM_000393.5(COL5A2):c.291A>G (p.Ser97=)
|
|
|
NM_000393.5(COL5A2):c.2922T>C (p.Asp974=)
|
|
|
NM_000393.5(COL5A2):c.2931+10G>A
|
|
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NM_000393.5(COL5A2):c.2931+12G>A
|
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NM_000393.5(COL5A2):c.2931+17C>T
|
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NM_000393.5(COL5A2):c.2932-11C>T
|
rs1158417509
|
|
NM_000393.5(COL5A2):c.296C>T (p.Thr99Ile)
|
|
|
NM_000393.5(COL5A2):c.3002G>A (p.Arg1001His)
|
|
|
NM_000393.5(COL5A2):c.3003T>A (p.Arg1001=)
|
|
|
NM_000393.5(COL5A2):c.3015C>T (p.Gly1005=)
|
|
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NM_000393.5(COL5A2):c.3039+13A>G
|
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NM_000393.5(COL5A2):c.3039+16G>A
|
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NM_000393.5(COL5A2):c.3039+8G>A
|
|
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NM_000393.5(COL5A2):c.303A>G (p.Gly101=)
|
|
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NM_000393.5(COL5A2):c.3040-19A>G
|
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NM_000393.5(COL5A2):c.3040-7A>G
|
rs1236877990
|
|
NM_000393.5(COL5A2):c.3044C>A (p.Thr1015Lys)
|
|
|
NM_000393.5(COL5A2):c.3064A>C (p.Thr1022Pro)
|
|
|
NM_000393.5(COL5A2):c.306T>C (p.Gly102=)
|
|
|
NM_000393.5(COL5A2):c.3070G>A (p.Ala1024Thr)
|
|
|
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=)
|
rs774936724
|
|
NM_000393.5(COL5A2):c.3108C>A (p.Pro1036=)
|
rs2153507896
|
|
NM_000393.5(COL5A2):c.3114C>T (p.Gly1038=)
|
|
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NM_000393.5(COL5A2):c.3147+12A>G
|
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NM_000393.5(COL5A2):c.3148-6T>G
|
|
|
NM_000393.5(COL5A2):c.3148-9T>A
|
|
|
NM_000393.5(COL5A2):c.3159C>A (p.Gly1053=)
|
|
|
NM_000393.5(COL5A2):c.3171C>G (p.Thr1057=)
|
|
|
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=)
|
rs374549843
|
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NM_000393.5(COL5A2):c.3201+15A>C
|
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NM_000393.5(COL5A2):c.3201+17T>A
|
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NM_000393.5(COL5A2):c.3202-17A>G
|
|
|
NM_000393.5(COL5A2):c.3207T>C (p.Asp1069=)
|
|
|
NM_000393.5(COL5A2):c.322+10T>A
|
rs2105711790
|
|
NM_000393.5(COL5A2):c.322+7A>G
|
|
|
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
|
|
|
NM_000393.5(COL5A2):c.326G>A (p.Arg109Lys)
|
|
|
NM_000393.5(COL5A2):c.3296A>G (p.Gln1099Arg)
|
|
|
NM_000393.5(COL5A2):c.3309+20C>T
|
rs2153507358
|
|
NM_000393.5(COL5A2):c.3309+9G>A
|
|
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NM_000393.5(COL5A2):c.3310-4T>G
|
rs2153507285
|
|
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=)
|
rs1553513577
|
|
NM_000393.5(COL5A2):c.3351A>G (p.Lys1117=)
|
|
|
NM_000393.5(COL5A2):c.3363+18_3363+21del
|
|
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NM_000393.5(COL5A2):c.3364-10C>G
|
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NM_000393.5(COL5A2):c.3364-18C>T
|
|
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NM_000393.5(COL5A2):c.3364-5T>A
|
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NM_000393.5(COL5A2):c.337-15T>C
|
|
|
NM_000393.5(COL5A2):c.337-17T>C
|
|
|
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln)
|
rs562950263
|
|
NM_000393.5(COL5A2):c.3432C>T (p.His1144=)
|
rs1685594948
|
|
NM_000393.5(COL5A2):c.3438C>G (p.Gly1146=)
|
|
|
NM_000393.5(COL5A2):c.3444T>G (p.Thr1148=)
|
rs2153507006
|
|
NM_000393.5(COL5A2):c.3471+11C>T
|
|
|
NM_000393.5(COL5A2):c.3471+17_3471+20del
|
|
|
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe)
|
rs768807471
|
|
NM_000393.5(COL5A2):c.3525+15G>A
|
|
|
NM_000393.5(COL5A2):c.3525+15G>T
|
rs2153506949
|
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NM_000393.5(COL5A2):c.3525+20A>C
|
|
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NM_000393.5(COL5A2):c.3526-17G>C
|
|
|
NM_000393.5(COL5A2):c.3526-5T>G
|
|
|
NM_000393.5(COL5A2):c.3573G>T (p.Gly1191=)
|
rs2153506821
|
|
NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)
|
|
|
NM_000393.5(COL5A2):c.3633+14G>A
|
|
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NM_000393.5(COL5A2):c.3633+17T>C
|
|
|
NM_000393.5(COL5A2):c.3633+9A>T
|
|
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NM_000393.5(COL5A2):c.3634-4T>C
|
|
|
NM_000393.5(COL5A2):c.3642T>A (p.Pro1214=)
|
|
|
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
|
|
|
NM_000393.5(COL5A2):c.370-9A>T
|
rs2105686943
|
|
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile)
|
rs780628821
|
|
NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)
|
|
|
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=)
|
rs1576486483
|
|
NM_000393.5(COL5A2):c.3798A>G (p.Pro1266=)
|
|
|
NM_000393.5(COL5A2):c.3834G>A (p.Gln1278=)
|
rs2153506504
|
|
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
|
rs772344964
|
|
NM_000393.5(COL5A2):c.3879C>T (p.Ala1293=)
|
rs1685508284
|
|
NM_000393.5(COL5A2):c.3895C>T (p.Leu1299=)
|
|
|
NM_000393.5(COL5A2):c.3903T>C (p.Leu1301=)
|
|
|
NM_000393.5(COL5A2):c.3906C>T (p.Cys1302=)
|
rs532409377
|
|
NM_000393.5(COL5A2):c.3912C>T (p.Ser1304=)
|
|
|
NM_000393.5(COL5A2):c.3918G>A (p.Lys1306=)
|
|
|
NM_000393.5(COL5A2):c.3925+17C>G
|
rs1685506449
|
|
NM_000393.5(COL5A2):c.3926-14A>G
|
rs1377852358
|
|
NM_000393.5(COL5A2):c.3969A>G (p.Ala1323=)
|
rs1131429
|
|
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=)
|
rs775697182
|
|
NM_000393.5(COL5A2):c.402+15C>T
|
|
|
NM_000393.5(COL5A2):c.402+17A>G
|
|
|
NM_000393.5(COL5A2):c.403-15C>G
|
|
|
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=)
|
rs2153506152
|
|
NM_000393.5(COL5A2):c.4044C>A (p.Thr1348=)
|
rs1430568106
|
|
NM_000393.5(COL5A2):c.4076C>A (p.Pro1359His)
|
rs745580343
|
|
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
|
|
|
NM_000393.5(COL5A2):c.4113+16del
|
rs779762130
|
|
NM_000393.5(COL5A2):c.4113+17A>C
|
|
|
NM_000393.5(COL5A2):c.4113+18C>G
|
|
|
NM_000393.5(COL5A2):c.4114-18_4114-17del
|
rs1440458273
|
|
NM_000393.5(COL5A2):c.4114-20_4114-19del
|
|
|
NM_000393.5(COL5A2):c.4137A>G (p.Ser1379=)
|
rs2153505989
|
|
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
|
|
|
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=)
|
rs1685417610
|
|
NM_000393.5(COL5A2):c.4164T>A (p.Thr1388=)
|
|
|
NM_000393.5(COL5A2):c.4179A>G (p.Leu1393=)
|
rs200888890
|
|
NM_000393.5(COL5A2):c.4194C>G (p.Ser1398=)
|
|
|
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=)
|
rs979486002
|
|
NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)
|
|
|
NM_000393.5(COL5A2):c.426A>G (p.Pro142=)
|
|
|
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
|
|
|
NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)
|
|
|
NM_000393.5(COL5A2):c.429A>G (p.Arg143=)
|
rs1488001302
|
|
NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)
|
|
|
NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)
|
|
|
NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=)
|
rs1685413573
|
|
NM_000393.5(COL5A2):c.4353+13T>A
|
|
|
NM_000393.5(COL5A2):c.4353+14G>C
|
|
|
NM_000393.5(COL5A2):c.4353+15A>T
|
rs375110145
|
|
NM_000393.5(COL5A2):c.4353+16T>C
|
|
|
NM_000393.5(COL5A2):c.4353+20C>T
|
|
|
NM_000393.5(COL5A2):c.4353+8C>G
|
rs1057523735
|
|
NM_000393.5(COL5A2):c.4354-6T>A
|
rs1576482939
|
|
NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)
|
|
|
NM_000393.5(COL5A2):c.441G>A (p.Gly147=)
|
|
|
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
|
|
|
NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)
|
|
|
NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=)
|
rs78905646
|
|
NM_000393.5(COL5A2):c.4497G>A (p.Val1499=)
|
rs1249280287
|
|
NM_000393.5(COL5A2):c.450A>C (p.Gly150=)
|
|
|
NM_000393.5(COL5A2):c.456+10C>T
|
|
|
NM_000393.5(COL5A2):c.456+18C>T
|
rs887004952
|
|
NM_000393.5(COL5A2):c.457-18A>G
|
|
|
NM_000393.5(COL5A2):c.457-6T>A
|
rs756707881
|
|
NM_000393.5(COL5A2):c.459C>T (p.Gly153=)
|
rs2105668392
|
|
NM_000393.5(COL5A2):c.507A>G (p.Gln169=)
|
|
|
NM_000393.5(COL5A2):c.519A>C (p.Pro173=)
|
rs1553517803
|
|
NM_000393.5(COL5A2):c.534T>C (p.His178=)
|
|
|
NM_000393.5(COL5A2):c.537G>C (p.Pro179=)
|
|
|
NM_000393.5(COL5A2):c.537G>T (p.Pro179=)
|
|
|
NM_000393.5(COL5A2):c.54A>G (p.Leu18=)
|
rs2105831569
|
|
NM_000393.5(COL5A2):c.552C>G (p.Pro184=)
|
|
|
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)
|
rs775933907
|
|
NM_000393.5(COL5A2):c.559T>C (p.Leu187=)
|
|
|
NM_000393.5(COL5A2):c.567+15T>C
|
|
|
NM_000393.5(COL5A2):c.567+16T>G
|
|
|
NM_000393.5(COL5A2):c.609A>G (p.Gly203=)
|
|
|
NM_000393.5(COL5A2):c.615G>C (p.Gly205=)
|
rs757199738
|
|
NM_000393.5(COL5A2):c.645+12T>G
|
rs2105658220
|
|
NM_000393.5(COL5A2):c.690+12T>G
|
|
|
NM_000393.5(COL5A2):c.690+13A>G
|
|
|
NM_000393.5(COL5A2):c.690+14T>C
|
|
|
NM_000393.5(COL5A2):c.691-18C>A
|
rs1440268271
|
|
NM_000393.5(COL5A2):c.691-20T>C
|
|
|
NM_000393.5(COL5A2):c.693T>A (p.Gly231=)
|
|
|
NM_000393.5(COL5A2):c.744+13_744+16del
|
|
|
NM_000393.5(COL5A2):c.744+17C>G
|
|
|
NM_000393.5(COL5A2):c.744+7G>A
|
rs774993105
|
|
NM_000393.5(COL5A2):c.744+8T>A
|
rs2105650306
|
|
NM_000393.5(COL5A2):c.745-19T>C
|
|
|
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)
|
rs556805686
|
|
NM_000393.5(COL5A2):c.761G>A (p.Arg254His)
|
|
|
NM_000393.5(COL5A2):c.798+10C>A
|
|
|
NM_000393.5(COL5A2):c.798+10del
|
|
|
NM_000393.5(COL5A2):c.799-13T>A
|
rs2105645853
|
|
NM_000393.5(COL5A2):c.799-18A>G
|
|
|
NM_000393.5(COL5A2):c.799-7C>T
|
rs879227018
|
|
NM_000393.5(COL5A2):c.799-8C>T
|
|
|
NM_000393.5(COL5A2):c.852+13T>G
|
rs2105645578
|
|
NM_000393.5(COL5A2):c.852+8T>C
|
rs2105645627
|
|
NM_000393.5(COL5A2):c.853-13G>A
|
rs1553516867
|
|
NM_000393.5(COL5A2):c.853-17_853-14del
|
|
|
NM_000393.5(COL5A2):c.853-8C>T
|
|
|
NM_000393.5(COL5A2):c.897G>A (p.Lys299=)
|
|
|
NM_000393.5(COL5A2):c.902A>G (p.His301Arg)
|
|
|
NM_000393.5(COL5A2):c.906+12C>G
|
rs1057521955
|
|
NM_000393.5(COL5A2):c.906+20A>G
|
|
|
NM_000393.5(COL5A2):c.907-12T>G
|
|
|
NM_000393.5(COL5A2):c.907-18T>C
|
|
|
NM_000393.5(COL5A2):c.907-19T>C
|
|
|
NM_000393.5(COL5A2):c.90C>T (p.Asp30=)
|
|
|
NM_000393.5(COL5A2):c.939A>G (p.Glu313=)
|
|
|
NM_000393.5(COL5A2):c.946G>A (p.Ala316Thr)
|
|
|
NM_000393.5(COL5A2):c.960+11A>G
|
|
|
NM_000393.5(COL5A2):c.961-15C>T
|
|
|
NM_000393.5(COL5A2):c.961-18A>G
|
|
|
NM_000393.5(COL5A2):c.97+10C>T
|
|
|
NM_000393.5(COL5A2):c.97+15T>C
|
|
|
NM_000393.5(COL5A2):c.978T>C (p.Thr326=)
|
rs1053327487
|
|
NM_000393.5(COL5A2):c.98-10C>T
|
rs2105712624
|
|
NM_000393.5(COL5A2):c.994A>T (p.Met332Leu)
|
|
|
NM_001128225.3(SLC39A13):c.1040+15G>T
|
|
|
NM_001128225.3(SLC39A13):c.1040+18G>A
|
|
|
NM_001128225.3(SLC39A13):c.1040+19G>T
|
|
|
NM_001128225.3(SLC39A13):c.1041-5C>A
|
|
|
NM_001128225.3(SLC39A13):c.1044C>T (p.Arg348=)
|
|
|
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=)
|
rs1398817706
|
|
NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=)
|
|
|
NM_001128225.3(SLC39A13):c.1080C>T (p.Ile360=)
|
|
|
NM_001128225.3(SLC39A13):c.108C>T (p.Ala36=)
|
rs2153290859
|
|
NM_001128225.3(SLC39A13):c.1093C>T (p.Leu365=)
|
rs2153302063
|
|
NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=)
|
|
|
NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=)
|
|
|
NM_001128225.3(SLC39A13):c.1107C>T (p.Phe369=)
|
|
|
NM_001128225.3(SLC39A13):c.111C>T (p.Leu37=)
|
rs777719077
|
|
NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)
|
|
|
NM_001128225.3(SLC39A13):c.141C>T (p.Arg47=)
|
|
|
NM_001128225.3(SLC39A13):c.153G>A (p.Lys51=)
|
rs529299524
|
|
NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=)
|
|
|
NM_001128225.3(SLC39A13):c.234G>T (p.Val78=)
|
rs140298838
|
|
NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=)
|
|
|
NM_001128225.3(SLC39A13):c.255G>A (p.Pro85=)
|
rs145309500
|
|
NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)
|
|
|
NM_001128225.3(SLC39A13):c.301+12_301+13del
|
|
|
NM_001128225.3(SLC39A13):c.301+14C>T
|
|
|
NM_001128225.3(SLC39A13):c.302-4G>C
|
|
|
NM_001128225.3(SLC39A13):c.302-6T>C
|
|
|
NM_001128225.3(SLC39A13):c.325C>T (p.Leu109=)
|
|
|
NM_001128225.3(SLC39A13):c.352T>C (p.Leu118=)
|
|
|
NM_001128225.3(SLC39A13):c.369G>C (p.Leu123=)
|
|
|
NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=)
|
|
|
NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=)
|
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001128225.3(SLC39A13):c.39C>T (p.Gly13=)
|
rs1595877349
|
|
NM_001128225.3(SLC39A13):c.402C>T (p.Cys134=)
|
|
|
NM_001128225.3(SLC39A13):c.415+11C>T
|
|
|
NM_001128225.3(SLC39A13):c.415+16C>T
|
|
|
NM_001128225.3(SLC39A13):c.415+23_415+39del
|
|
|
NM_001128225.3(SLC39A13):c.415+9G>A
|
rs1595881246
|
|
NM_001128225.3(SLC39A13):c.416-11G>A
|
|
|
NM_001128225.3(SLC39A13):c.420T>C (p.Gly140=)
|
|
|
NM_001128225.3(SLC39A13):c.447A>G (p.Gln149=)
|
|
|
NM_001128225.3(SLC39A13):c.456G>A (p.Gly152=)
|
|
|
NM_001128225.3(SLC39A13):c.459G>A (p.Leu153=)
|
|
|
NM_001128225.3(SLC39A13):c.492G>A (p.Ala164=)
|
rs149634596
|
|
NM_001128225.3(SLC39A13):c.492G>C (p.Ala164=)
|
|
|
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=)
|
rs149634596
|
|
NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)
|
|
|
NM_001128225.3(SLC39A13):c.537+18G>A
|
|
|
NM_001128225.3(SLC39A13):c.537+19G>A
|
|
|
NM_001128225.3(SLC39A13):c.537+8C>A
|
|
|
NM_001128225.3(SLC39A13):c.537+8C>T
|
|
|
NM_001128225.3(SLC39A13):c.538-12_538-11del
|
|
|
NM_001128225.3(SLC39A13):c.538-13C>T
|
|
|
NM_001128225.3(SLC39A13):c.538-20C>T
|
|
|
NM_001128225.3(SLC39A13):c.558T>A (p.Thr186=)
|
rs749530840
|
|
NM_001128225.3(SLC39A13):c.567C>T (p.Ala189=)
|
|
|
NM_001128225.3(SLC39A13):c.579T>C (p.Asn193=)
|
rs2096009710
|
|
NM_001128225.3(SLC39A13):c.57_58inv (p.Thr20Ala)
|
|
|
NM_001128225.3(SLC39A13):c.582A>T (p.Gly194=)
|
|
|
NM_001128225.3(SLC39A13):c.585C>T (p.Gly195=)
|
|
|
NM_001128225.3(SLC39A13):c.588C>T (p.His196=)
|
|
|
NM_001128225.3(SLC39A13):c.615C>G (p.Pro205=)
|
rs147495812
|
|
NM_001128225.3(SLC39A13):c.634C>A (p.Arg212=)
|
rs1242800592
|
|
NM_001128225.3(SLC39A13):c.645+20C>T
|
|
|
NM_001128225.3(SLC39A13):c.645+8G>T
|
|
|
NM_001128225.3(SLC39A13):c.645+9C>A
|
|
|
NM_001128225.3(SLC39A13):c.648C>A (p.Val216=)
|
|
|
NM_001128225.3(SLC39A13):c.648C>G (p.Val216=)
|
|
|
NM_001128225.3(SLC39A13):c.681C>T (p.Ile227=)
|
rs768663803
|
|
NM_001128225.3(SLC39A13):c.687C>T (p.Asn229=)
|
rs2153299573
|
|
NM_001128225.3(SLC39A13):c.693C>T (p.Thr231=)
|
rs2153299580
|
|
NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)
|
|
|
NM_001128225.3(SLC39A13):c.714C>G (p.Ala238=)
|
|
|
NM_001128225.3(SLC39A13):c.735+8G>A
|
|
|
NM_001128225.3(SLC39A13):c.735+8G>T
|
rs568529293
|
|
NM_001128225.3(SLC39A13):c.736-10C>A
|
|
|
NM_001128225.3(SLC39A13):c.736-13C>T
|
|
|
NM_001128225.3(SLC39A13):c.736-16G>A
|
|
|
NM_001128225.3(SLC39A13):c.750A>C (p.Thr250=)
|
rs756237499
|
|
NM_001128225.3(SLC39A13):c.753C>T (p.Thr251=)
|
|
|
NM_001128225.3(SLC39A13):c.786+12T>C
|
|
|
NM_001128225.3(SLC39A13):c.786+15G>A
|
|
|
NM_001128225.3(SLC39A13):c.786+26_786+41dup
|
rs2153301015
|
|
NM_001128225.3(SLC39A13):c.786+7G>A
|
|
|
NM_001128225.3(SLC39A13):c.786+7G>C
|
rs375548129
|
|
NM_001128225.3(SLC39A13):c.787-16C>G
|
|
|
NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=)
|
|
|
NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=)
|
|
|
NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=)
|
|
|
NM_001128225.3(SLC39A13):c.909C>A (p.Pro303=)
|
rs527684138
|
|
NM_001128225.3(SLC39A13):c.919+13C>A
|
|
|
NM_001128225.3(SLC39A13):c.919+13C>T
|
|
|
NM_001128225.3(SLC39A13):c.919+16G>A
|
|
|
NM_001128225.3(SLC39A13):c.919+19G>C
|
rs1203376008
|
|
NM_001128225.3(SLC39A13):c.919+19dup
|
rs747836551
|
|
NM_001128225.3(SLC39A13):c.919+20_919+32del
|
|
|
NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=)
|
|
|
NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)
|
|
|
NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=)
|
|
|
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=)
|
|
|
NM_004370.6(COL12A1):c.1059T>C (p.Asn353=)
|
|
|
NM_004370.6(COL12A1):c.108A>C (p.Ile36=)
|
|
|
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=)
|
rs2149467427
|
|
NM_004370.6(COL12A1):c.10A>C (p.Arg4=)
|
|
|
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=)
|
rs575544133
|
|
NM_004370.6(COL12A1):c.1127G>A (p.Arg376Gln)
|
|
|
NM_004370.6(COL12A1):c.1131G>A (p.Gln377=)
|
|
|
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=)
|
rs2149467274
|
|
NM_004370.6(COL12A1):c.1149G>A (p.Gly383=)
|
|
|
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=)
|
rs2149467222
|
|
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys)
|
rs201657256
|
|
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=)
|
rs763051678
|
|
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn)
|
|
|
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu)
|
rs775157077
|
|
NM_004370.6(COL12A1):c.1243C>T (p.Pro415Ser)
|
|
|
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=)
|
rs2149467023
|
|
NM_004370.6(COL12A1):c.1288+12T>G
|
|
|
NM_004370.6(COL12A1):c.1288+15G>A
|
|
|
NM_004370.6(COL12A1):c.1288+18T>C
|
|
|
NM_004370.6(COL12A1):c.1289-13T>G
|
|
|
NM_004370.6(COL12A1):c.1289-15T>C
|
rs2149466614
|
|
NM_004370.6(COL12A1):c.1289-17T>A
|
|
|
NM_004370.6(COL12A1):c.1289-19A>G
|
|
|
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=)
|
|
|
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=)
|
|
|
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=)
|
rs372285460
|
|
NM_004370.6(COL12A1):c.1383C>G (p.Ala461=)
|
|
|
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=)
|
rs2149466384
|
|
NM_004370.6(COL12A1):c.141A>G (p.Lys47=)
|
rs2149482731
|
|
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=)
|
rs762385473
|
|
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=)
|
rs533536940
|
|
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=)
|
|
|
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=)
|
rs777711709
|
|
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=)
|
rs777711709
|
|
NM_004370.6(COL12A1):c.1494C>T (p.Thr498=)
|
|
|
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser)
|
|
|
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=)
|
|
|
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=)
|
|
|
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=)
|
|
|
NM_004370.6(COL12A1):c.1566A>G (p.Ala522=)
|
|
|
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=)
|
rs1003898953
|
|
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=)
|
|
|
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=)
|
|
|
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
|
|
|
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=)
|
rs761187970
|
|
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=)
|
rs2149465844
|
|
NM_004370.6(COL12A1):c.1659A>G (p.Ser553=)
|
|
|
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=)
|
rs2149465802
|
|
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
|
|
|
NM_004370.6(COL12A1):c.1707T>C (p.Val569=)
|
|
|
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr)
|
|
|
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=)
|
|
|
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=)
|
|
|
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)
|
|
|
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met)
|
rs140583215
|
|
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=)
|
|
|
NM_004370.6(COL12A1):c.1785T>C (p.His595=)
|
rs2149465524
|
|
NM_004370.6(COL12A1):c.1788G>A (p.Val596=)
|
|
|
NM_004370.6(COL12A1):c.1839A>G (p.Thr613=)
|
|
|
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=)
|
rs1484924756
|
|
NM_004370.6(COL12A1):c.1860T>C (p.Ile620=)
|
|
|
NM_004370.6(COL12A1):c.1891+13T>C
|
|
|
NM_004370.6(COL12A1):c.1891+14G>A
|
|
|
NM_004370.6(COL12A1):c.1891+17A>G
|
|
|
NM_004370.6(COL12A1):c.1892-14_1892-13insA
|
|
|
NM_004370.6(COL12A1):c.1892-6dup
|
rs753233369
|
|
NM_004370.6(COL12A1):c.1892-7T>C
|
rs779185109
|
|
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT
|
rs560088357
|
|
NM_004370.6(COL12A1):c.190+11A>G
|
|
|
NM_004370.6(COL12A1):c.190+18G>A
|
|
|
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=)
|
|
|
NM_004370.6(COL12A1):c.191-16C>A
|
rs2149479283
|
|
NM_004370.6(COL12A1):c.191-8A>G
|
|
|
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=)
|
rs2149462302
|
|
NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn)
|
|
|
NM_004370.6(COL12A1):c.198T>C (p.Pro66=)
|
|
|
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=)
|
rs1582191777
|
|
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=)
|
rs1039108581
|
|
NM_004370.6(COL12A1):c.2061T>C (p.Val687=)
|
|
|
NM_004370.6(COL12A1):c.207A>G (p.Glu69=)
|
rs2149479234
|
|
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=)
|
rs2149461949
|
|
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=)
|
rs2149461922
|
|
NM_004370.6(COL12A1):c.2145A>G (p.Gly715=)
|
|
|
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
|
|
|
NM_004370.6(COL12A1):c.2164+8G>C
|
|
|
NM_004370.6(COL12A1):c.2165-4T>C
|
|
|
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=)
|
|
|
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)
|
rs984509796
|
|
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser)
|
rs984509796
|
|
NM_004370.6(COL12A1):c.2205T>G (p.Thr735=)
|
|
|
NM_004370.6(COL12A1):c.2225C>G (p.Thr742Ser)
|
|
|
NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)
|
|
|
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=)
|
rs2149456961
|
|
NM_004370.6(COL12A1):c.2260C>A (p.Arg754=)
|
|
|
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=)
|
rs982309132
|
|
NM_004370.6(COL12A1):c.228C>T (p.Thr76=)
|
rs1432448789
|
|
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=)
|
rs2149456858
|
|
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=)
|
|
|
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=)
|
|
|
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=)
|
rs750671040
|
|
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
|
|
|
NM_004370.6(COL12A1):c.2437+18A>G
|
|
|
NM_004370.6(COL12A1):c.2438-11T>C
|
|
|
NM_004370.6(COL12A1):c.2438-14A>C
|
|
|
NM_004370.6(COL12A1):c.2438-20G>A
|
|
|
NM_004370.6(COL12A1):c.2438-5T>C
|
rs1768879542
|
|
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=)
|
|
|
NM_004370.6(COL12A1):c.2506G>C (p.Gly836Arg)
|
|
|
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=)
|
rs374489011
|
|
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=)
|
rs372378385
|
|
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=)
|
rs775341470
|
|
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=)
|
|
|
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=)
|
rs554348257
|
|
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=)
|
rs554348257
|
|
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met)
|
rs764066205
|
|
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=)
|
rs2149451975
|
|
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=)
|
rs2149451941
|
|
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala)
|
rs1277353575
|
|
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=)
|
rs1554186131
|
|
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=)
|
rs1554186125
|
|
NM_004370.6(COL12A1):c.2710+17_2710+18insTA
|
|
|
NM_004370.6(COL12A1):c.2710+7A>G
|
rs969629618
|
|
NM_004370.6(COL12A1):c.2710+8C>A
|
|
|
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA
|
rs2149451710
|
|
NM_004370.6(COL12A1):c.2711-9C>A
|
rs2149439017
|
|
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=)
|
|
|
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=)
|
rs1768261405
|
|
NM_004370.6(COL12A1):c.2766G>T (p.Gly922=)
|
|
|
NM_004370.6(COL12A1):c.2787A>G (p.Pro929=)
|
|
|
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His)
|
rs779848906
|
|
NM_004370.6(COL12A1):c.2808G>A (p.Arg936=)
|
|
|
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=)
|
|
|
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=)
|
rs375540397
|
|
NM_004370.6(COL12A1):c.2856T>C (p.Asn952=)
|
|
|
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=)
|
rs930413173
|
|
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=)
|
|
|
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=)
|
|
|
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=)
|
|
|
NM_004370.6(COL12A1):c.2966G>C (p.Gly989Ala)
|
|
|
NM_004370.6(COL12A1):c.2976A>C (p.Thr992=)
|
|
|
NM_004370.6(COL12A1):c.2983+11T>C
|
|
|
NM_004370.6(COL12A1):c.2983+12_2983+14del
|
|
|
NM_004370.6(COL12A1):c.2983+17G>A
|
|
|
NM_004370.6(COL12A1):c.2984-18C>A
|
|
|
NM_004370.6(COL12A1):c.2984-18C>G
|
|
|
NM_004370.6(COL12A1):c.2984-7C>T
|
|
|
NM_004370.6(COL12A1):c.2984-8T>C
|
|
|
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=)
|
rs753423916
|
|
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)
|
rs200985706
|
|
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=)
|
rs1582146956
|
|
NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=)
|
|
|
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)
|
rs577784031
|
|
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=)
|
|
|
NM_004370.6(COL12A1):c.3193G>A (p.Val1065Ile)
|
|
|
NM_004370.6(COL12A1):c.3228T>C (p.Leu1076=)
|
|
|
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
|
|
|
NM_004370.6(COL12A1):c.3250+16T>G
|
rs1554183547
|
|
NM_004370.6(COL12A1):c.3250+7AAT[2]
|
rs778868677
|
|
NM_004370.6(COL12A1):c.3251-8C>T
|
rs754632351
|
|
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
|
|
|
NM_004370.6(COL12A1):c.3279C>A (p.Leu1093=)
|
|
|
NM_004370.6(COL12A1):c.330A>G (p.Leu110=)
|
rs2149479020
|
|
NM_004370.6(COL12A1):c.334+13A>T
|
rs991483498
|
|
NM_004370.6(COL12A1):c.335-15A>G
|
|
|
NM_004370.6(COL12A1):c.335-22TAA[2]
|
|
|
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=)
|
rs776878636
|
|
NM_004370.6(COL12A1):c.3366C>T (p.His1122=)
|
rs2149423139
|
|
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
|
|
|
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=)
|
rs749287034
|
|
NM_004370.6(COL12A1):c.3372G>C (p.Thr1124=)
|
|
|
NM_004370.6(COL12A1):c.33C>G (p.Ala11=)
|
rs1770596486
|
|
NM_004370.6(COL12A1):c.33C>T (p.Ala11=)
|
rs1770596486
|
|
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=)
|
rs752420015
|
|
NM_004370.6(COL12A1):c.342A>G (p.Thr114=)
|
rs2149478404
|
|
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=)
|
|
|
NM_004370.6(COL12A1):c.3443+20G>A
|
|
|
NM_004370.6(COL12A1):c.3444-15A>G
|
|
|
NM_004370.6(COL12A1):c.3444-17A>G
|
|
|
NM_004370.6(COL12A1):c.3444-19A>G
|
|
|
NM_004370.6(COL12A1):c.3453C>A (p.Thr1151=)
|
|
|
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)
|
rs764153192
|
|
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=)
|
|
|
NM_004370.6(COL12A1):c.351G>T (p.Ser117=)
|
|
|
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=)
|
|
|
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=)
|
|
|
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=)
|
|
|
NM_004370.6(COL12A1):c.3561T>A (p.Ser1187=)
|
rs1582143439
|
|
NM_004370.6(COL12A1):c.3565+11G>A
|
|
|
NM_004370.6(COL12A1):c.3566-15T>C
|
|
|
NM_004370.6(COL12A1):c.3566-19C>G
|
|
|
NM_004370.6(COL12A1):c.3566-5G>A
|
rs2149417897
|
|
NM_004370.6(COL12A1):c.3566-6T>C
|
|
|
NM_004370.6(COL12A1):c.3566-7A>G
|
|
|
NM_004370.6(COL12A1):c.3566-8C>T
|
|
|
NM_004370.6(COL12A1):c.3646A>C (p.Arg1216=)
|
|
|
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn)
|
rs1436778165
|
|
NM_004370.6(COL12A1):c.366G>A (p.Glu122=)
|
|
|
NM_004370.6(COL12A1):c.36G>A (p.Leu12=)
|
|
|
NM_004370.6(COL12A1):c.36G>T (p.Leu12=)
|
|
|
NM_004370.6(COL12A1):c.3715+17T>C
|
|
|
NM_004370.6(COL12A1):c.3715+18T>C
|
|
|
NM_004370.6(COL12A1):c.3716-10G>T
|
|
|
NM_004370.6(COL12A1):c.3716-20T>C
|
rs1176638204
|
|
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu)
|
rs199692759
|
|
NM_004370.6(COL12A1):c.3835+18G>A
|
|
|
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=)
|
|
|
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
|
|
|
NM_004370.6(COL12A1):c.390A>T (p.Ile130=)
|
|
|
NM_004370.6(COL12A1):c.3918C>T (p.Leu1306=)
|
|
|
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=)
|
|
|
NM_004370.6(COL12A1):c.394+11C>T
|
|
|
NM_004370.6(COL12A1):c.394+16A>G
|
|
|
NM_004370.6(COL12A1):c.394+16A>T
|
|
|
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=)
|
rs570245614
|
|
NM_004370.6(COL12A1):c.395-19G>C
|
|
|
NM_004370.6(COL12A1):c.395-19G>T
|
|
|
NM_004370.6(COL12A1):c.395-9G>A
|
|
|
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=)
|
|
|
NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=)
|
|
|
NM_004370.6(COL12A1):c.4000+14A>G
|
|
|
NM_004370.6(COL12A1):c.4000+15G>T
|
|
|
NM_004370.6(COL12A1):c.4000+18C>T
|
|
|
NM_004370.6(COL12A1):c.4001-6T>C
|
|
|
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=)
|
rs1425739513
|
|
NM_004370.6(COL12A1):c.4010A>T (p.Asn1337Ile)
|
|
|
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=)
|
rs1582137847
|
|
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=)
|
rs2149415478
|
|
NM_004370.6(COL12A1):c.4050T>C (p.Pro1350=)
|
|
|
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=)
|
rs992754948
|
|
NM_004370.6(COL12A1):c.4086G>A (p.Glu1362=)
|
|
|
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=)
|
|
|
NM_004370.6(COL12A1):c.4147+17G>A
|
|
|
NM_004370.6(COL12A1):c.4148-15dup
|
rs1227725033
|
|
NM_004370.6(COL12A1):c.4148-20C>A
|
rs1767317341
|
|
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
|
|
|
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=)
|
rs754233830
|
|
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val)
|
|
|
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=)
|
rs2149410580
|
|
NM_004370.6(COL12A1):c.423G>A (p.Leu141=)
|
rs755912419
|
|
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=)
|
rs2149410457
|
|
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=)
|
|
|
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=)
|
rs1767306131
|
|
NM_004370.6(COL12A1):c.4287+11A>G
|
|
|
NM_004370.6(COL12A1):c.4287+14C>A
|
|
|
NM_004370.6(COL12A1):c.4287+15C>G
|
|
|
NM_004370.6(COL12A1):c.4288-10T>C
|
rs776440408
|
|
NM_004370.6(COL12A1):c.4288-15A>G
|
rs2149409487
|
|
NM_004370.6(COL12A1):c.4288-19G>C
|
rs1554182346
|
|
NM_004370.6(COL12A1):c.4288-6C>G
|
|
|
NM_004370.6(COL12A1):c.4288-9T>C
|
rs1582131968
|
|
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=)
|
rs2149409419
|
|
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=)
|
rs975876036
|
|
NM_004370.6(COL12A1):c.42G>C (p.Ala14=)
|
|
|
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)
|
|
|
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=)
|
rs2149409308
|
|
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=)
|
|
|
NM_004370.6(COL12A1):c.433G>A (p.Val145Met)
|
|
|
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=)
|
|
|
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=)
|
|
|
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=)
|
rs2149409171
|
|
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala)
|
|
|
NM_004370.6(COL12A1):c.4401G>A (p.Lys1467=)
|
|
|
NM_004370.6(COL12A1):c.4404G>A (p.Gly1468=)
|
|
|
NM_004370.6(COL12A1):c.4417+9G>A
|
|
|
NM_004370.6(COL12A1):c.4418-18G>C
|
|
|
NM_004370.6(COL12A1):c.4418-20C>G
|
rs2149407223
|
|
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=)
|
|
|
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr)
|
rs760640025
|
|
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=)
|
|
|
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn)
|
rs771864984
|
|
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=)
|
rs763276220
|
|
NM_004370.6(COL12A1):c.4467C>G (p.Thr1489=)
|
|
|
NM_004370.6(COL12A1):c.4473T>C (p.His1491=)
|
|
|
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=)
|
rs2149407078
|
|
NM_004370.6(COL12A1):c.4518A>C (p.Ser1506=)
|
|
|
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)
|
|
|
NM_004370.6(COL12A1):c.4560+14G>A
|
|
|
NM_004370.6(COL12A1):c.4561-18C>T
|
|
|
NM_004370.6(COL12A1):c.4561-6G>A
|
rs560550352
|
|
NM_004370.6(COL12A1):c.4561-7T>C
|
|
|
NM_004370.6(COL12A1):c.4561-7_4561-2del
|
rs1582127639
|
|
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly)
|
rs574863380
|
|
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)
|
rs574863380
|
|
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=)
|
rs1767129736
|
|
NM_004370.6(COL12A1):c.4578A>G (p.Thr1526=)
|
|
|
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=)
|
rs762128925
|
|
NM_004370.6(COL12A1):c.459A>G (p.Arg153=)
|
|
|
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys)
|
rs373216375
|
|
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=)
|
|
|
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=)
|
|
|
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln)
|
rs754993978
|
|
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=)
|
rs2149405550
|
|
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=)
|
|
|
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=)
|
rs1767121915
|
|
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
|
|
|
NM_004370.6(COL12A1):c.4690+17T>C
|
|
|
NM_004370.6(COL12A1):c.4690+19T>C
|
|
|
NM_004370.6(COL12A1):c.4690+9C>T
|
|
|
NM_004370.6(COL12A1):c.4691-13C>G
|
|
|
NM_004370.6(COL12A1):c.4691-13C>T
|
|
|
NM_004370.6(COL12A1):c.4691-16T>G
|
rs750281471
|
|
NM_004370.6(COL12A1):c.4691-20A>C
|
|
|
NM_004370.6(COL12A1):c.46C>T (p.Leu16=)
|
|
|
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=)
|
rs17791238
|
|
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=)
|
rs17791238
|
|
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=)
|
|
|
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=)
|
rs1361287372
|
|
NM_004370.6(COL12A1):c.4827+12A>G
|
|
|
NM_004370.6(COL12A1):c.4827+16T>G
|
|
|
NM_004370.6(COL12A1):c.4828-19T>C
|
|
|
NM_004370.6(COL12A1):c.4828-4A>G
|
|
|
NM_004370.6(COL12A1):c.4828-8T>C
|
|
|
NM_004370.6(COL12A1):c.483C>T (p.Asp161=)
|
rs1769829163
|
|
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=)
|
|
|
NM_004370.6(COL12A1):c.4898G>A (p.Ser1633Asn)
|
|
|
NM_004370.6(COL12A1):c.489T>C (p.Ile163=)
|
|
|
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=)
|
|
|
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=)
|
|
|
NM_004370.6(COL12A1):c.4958-16C>T
|
|
|
NM_004370.6(COL12A1):c.4958-4A>T
|
|
|
NM_004370.6(COL12A1):c.4958-7A>G
|
rs1332779
|
|
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala)
|
|
|
NM_004370.6(COL12A1):c.5010T>G (p.Gly1670=)
|
|
|
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro)
|
|
|
NM_004370.6(COL12A1):c.5040A>G (p.Ser1680=)
|
|
|
NM_004370.6(COL12A1):c.5049T>C (p.Ser1683=)
|
|
|
NM_004370.6(COL12A1):c.504T>G (p.Ser168=)
|
rs371436873
|
|
NM_004370.6(COL12A1):c.5097+11C>A
|
|
|
NM_004370.6(COL12A1):c.5097+20T>G
|
|
|
NM_004370.6(COL12A1):c.5098-10T>C
|
rs968352189
|
|
NM_004370.6(COL12A1):c.5098-17T>C
|
|
|
NM_004370.6(COL12A1):c.5098-19T>C
|
|
|
NM_004370.6(COL12A1):c.5147C>T (p.Pro1716Leu)
|
|
|
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=)
|
rs1766737359
|
|
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)
|
rs762021815
|
|
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=)
|
|
|
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys)
|
|
|
NM_004370.6(COL12A1):c.5230+12G>A
|
|
|
NM_004370.6(COL12A1):c.5230+17C>T
|
|
|
NM_004370.6(COL12A1):c.5230+20A>C
|
|
|
NM_004370.6(COL12A1):c.5231-8T>C
|
rs1766724577
|
|
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=)
|
rs979503995
|
|
NM_004370.6(COL12A1):c.5247A>G (p.Thr1749=)
|
|
|
NM_004370.6(COL12A1):c.5252-11T>C
|
|
|
NM_004370.6(COL12A1):c.5252-14C>T
|
|
|
NM_004370.6(COL12A1):c.5252-7C>A
|
|
|
NM_004370.6(COL12A1):c.5256C>G (p.Pro1752=)
|
|
|
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=)
|
|
|
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=)
|
rs2149394288
|
|
NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=)
|
|
|
NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=)
|
|
|
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=)
|
rs2149394158
|
|
NM_004370.6(COL12A1):c.5394+14A>G
|
|
|
NM_004370.6(COL12A1):c.5394+15A>C
|
|
|
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=)
|
rs1470703983
|
|
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=)
|
|
|
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=)
|
|
|
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=)
|
rs1003584679
|
|
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=)
|
rs373978519
|
|
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)
|
rs201408175
|
|
NM_004370.6(COL12A1):c.546T>G (p.Val182=)
|
rs764254293
|
|
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=)
|
rs766269568
|
|
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=)
|
rs1582107388
|
|
NM_004370.6(COL12A1):c.549A>G (p.Gln183=)
|
|
|
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp)
|
|
|
NM_004370.6(COL12A1):c.5524+10A>G
|
|
|
NM_004370.6(COL12A1):c.5524+13T>G
|
|
|
NM_004370.6(COL12A1):c.5525-11G>A
|
|
|
NM_004370.6(COL12A1):c.5525-18G>T
|
|
|
NM_004370.6(COL12A1):c.5525-20G>A
|
|
|
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=)
|
|
|
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr)
|
|
|
NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val)
|
|
|
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=)
|
rs2149388082
|
|
NM_004370.6(COL12A1):c.561T>C (p.Asp187=)
|
|
|
NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys)
|
|
|
NM_004370.6(COL12A1):c.5662C>T (p.Leu1888=)
|
|
|
NM_004370.6(COL12A1):c.5664+16_5664+35del
|
rs1333051927
|
|
NM_004370.6(COL12A1):c.5665-19G>A
|
rs903881382
|
|
NM_004370.6(COL12A1):c.5665-4T>C
|
|
|
NM_004370.6(COL12A1):c.5665-6C>A
|
|
|
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=)
|
|
|
NM_004370.6(COL12A1):c.567G>A (p.Arg189=)
|
|
|
NM_004370.6(COL12A1):c.5694C>T (p.Ala1898=)
|
|
|
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=)
|
rs1582103755
|
|
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=)
|
|
|
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
|
|
|
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=)
|
|
|
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=)
|
rs780813171
|
|
NM_004370.6(COL12A1):c.5751T>C (p.Tyr1917=)
|
|
|
NM_004370.6(COL12A1):c.5790G>A (p.Arg1930=)
|
|
|
NM_004370.6(COL12A1):c.5794+13G>A
|
|
|
NM_004370.6(COL12A1):c.5794+17A>G
|
|
|
NM_004370.6(COL12A1):c.5795-16G>A
|
|
|
NM_004370.6(COL12A1):c.580T>C (p.Leu194=)
|
rs2149475695
|
|
NM_004370.6(COL12A1):c.5817T>C (p.Asn1939=)
|
|
|
NM_004370.6(COL12A1):c.5826A>G (p.Val1942=)
|
|
|
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser)
|
rs191233787
|
|
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu)
|
rs768626277
|
|
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn)
|
rs771175230
|
|
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)
|
|
|
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=)
|
rs594012
|
|
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
|
|
|
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met)
|
|
|
NM_004370.6(COL12A1):c.5937+14T>A
|
rs2149385207
|
|
NM_004370.6(COL12A1):c.5937+17T>C
|
rs1023564287
|
|
NM_004370.6(COL12A1):c.5938-9C>G
|
|
|
NM_004370.6(COL12A1):c.5938-9C>T
|
rs1166562974
|
|
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=)
|
|
|
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=)
|
rs770005423
|
|
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser)
|
rs373170333
|
|
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)
|
|
|
NM_004370.6(COL12A1):c.5967G>A (p.Val1989=)
|
|
|
NM_004370.6(COL12A1):c.5970T>C (p.His1990=)
|
|
|
NM_004370.6(COL12A1):c.5982G>A (p.Leu1994=)
|
|
|
NM_004370.6(COL12A1):c.5988G>A (p.Pro1996=)
|
|
|
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=)
|
|
|
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=)
|
rs111547439
|
|
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln)
|
rs1265886692
|
|
NM_004370.6(COL12A1):c.600G>A (p.Arg200=)
|
rs2149475654
|
|
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=)
|
|
|
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=)
|
|
|
NM_004370.6(COL12A1):c.6060C>T (p.Gly2020=)
|
|
|
NM_004370.6(COL12A1):c.6067+12A>G
|
|
|
NM_004370.6(COL12A1):c.6067+19C>A
|
|
|
NM_004370.6(COL12A1):c.6068-15A>G
|
|
|
NM_004370.6(COL12A1):c.6068-16T>C
|
|
|
NM_004370.6(COL12A1):c.6068-20A>G
|
|
|
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=)
|
|
|
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=)
|
rs909100621
|
|
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
|
|
|
NM_004370.6(COL12A1):c.6126G>A (p.Ser2042=)
|
|
|
NM_004370.6(COL12A1):c.6144T>A (p.Ala2048=)
|
|
|
NM_004370.6(COL12A1):c.6158A>G (p.Gln2053Arg)
|
|
|
NM_004370.6(COL12A1):c.6171C>T (p.Ile2057=)
|
|
|
NM_004370.6(COL12A1):c.6210+10A>T
|
|
|
NM_004370.6(COL12A1):c.6210+16A>G
|
|
|
NM_004370.6(COL12A1):c.6210+17T>C
|
|
|
NM_004370.6(COL12A1):c.6210+20A>T
|
rs377223538
|
|
NM_004370.6(COL12A1):c.6211-10T>A
|
|
|
NM_004370.6(COL12A1):c.6211-19A>C
|
|
|
NM_004370.6(COL12A1):c.6211-6C>G
|
|
|
NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=)
|
|
|
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=)
|
|
|
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=)
|
|
|
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=)
|
rs2149379927
|
|
NM_004370.6(COL12A1):c.6312T>C (p.Gly2104=)
|
|
|
NM_004370.6(COL12A1):c.6318T>C (p.His2106=)
|
|
|
NM_004370.6(COL12A1):c.6340+12G>C
|
|
|
NM_004370.6(COL12A1):c.6340+14A>G
|
|
|
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)
|
rs1424010902
|
|
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=)
|
rs371734128
|
|
NM_004370.6(COL12A1):c.6382T>C (p.Trp2128Arg)
|
|
|
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=)
|
rs757397618
|
|
NM_004370.6(COL12A1):c.6460+10_6460+11dup
|
rs2149377067
|
|
NM_004370.6(COL12A1):c.6501A>T (p.Thr2167=)
|
|
|
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=)
|
rs1486712607
|
|
NM_004370.6(COL12A1):c.658+10A>G
|
rs2149475491
|
|
NM_004370.6(COL12A1):c.658+13G>A
|
|
|
NM_004370.6(COL12A1):c.658+13G>T
|
|
|
NM_004370.6(COL12A1):c.659-8C>T
|
|
|
NM_004370.6(COL12A1):c.6607+14A>T
|
|
|
NM_004370.6(COL12A1):c.6607+16T>A
|
|
|
NM_004370.6(COL12A1):c.6607+7C>T
|
|
|
NM_004370.6(COL12A1):c.6608-19T>C
|
rs2149374329
|
|
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=)
|
|
|
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=)
|
|
|
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=)
|
rs2149374132
|
|
NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=)
|
|
|
NM_004370.6(COL12A1):c.6724+11A>G
|
rs1398653047
|
|
NM_004370.6(COL12A1):c.6725-14G>A
|
|
|
NM_004370.6(COL12A1):c.6725-16T>C
|
|
|
NM_004370.6(COL12A1):c.6725-18C>A
|
|
|
NM_004370.6(COL12A1):c.6725-6_6725-4del
|
rs2149373848
|
|
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=)
|
|
|
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=)
|
rs1765889227
|
|
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=)
|
rs2149373749
|
|
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=)
|
rs1765886657
|
|
NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln)
|
|
|
NM_004370.6(COL12A1):c.6871+14G>A
|
|
|
NM_004370.6(COL12A1):c.6871+20G>T
|
|
|
NM_004370.6(COL12A1):c.6872-14T>C
|
|
|
NM_004370.6(COL12A1):c.6872-15A>G
|
|
|
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=)
|
rs1194108575
|
|
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA
|
rs2149372484
|
|
NM_004370.6(COL12A1):c.6947-12C>T
|
|
|
NM_004370.6(COL12A1):c.6947-5T>C
|
|
|
NM_004370.6(COL12A1):c.6947-6T>G
|
rs200538799
|
|
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=)
|
rs1364212431
|
|
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=)
|
rs2149369622
|
|
NM_004370.6(COL12A1):c.7017T>C (p.Phe2339=)
|
|
|
NM_004370.6(COL12A1):c.7027G>A (p.Val2343Ile)
|
|
|
NM_004370.6(COL12A1):c.702T>C (p.Ser234=)
|
|
|
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=)
|
rs2149369561
|
|
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=)
|
rs1055080261
|
|
NM_004370.6(COL12A1):c.7086+10del
|
|
|
NM_004370.6(COL12A1):c.7086+15G>A
|
|
|
NM_004370.6(COL12A1):c.7086+20T>A
|
|
|
NM_004370.6(COL12A1):c.7087-11T>A
|
rs2149366872
|
|
NM_004370.6(COL12A1):c.7087-16del
|
|
|
NM_004370.6(COL12A1):c.7087-20C>T
|
|
|
NM_004370.6(COL12A1):c.7087-6C>T
|
|
|
NM_004370.6(COL12A1):c.7087-8T>C
|
|
|
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=)
|
rs2149366781
|
|
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=)
|
rs2149366759
|
|
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=)
|
rs2149366746
|
|
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=)
|
rs2149366727
|
|
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
|
|
|
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
|
|
|
NM_004370.6(COL12A1):c.7210+19C>G
|
rs747884107
|
|
NM_004370.6(COL12A1):c.7210+7G>A
|
|
|
NM_004370.6(COL12A1):c.7211-11A>G
|
|
|
NM_004370.6(COL12A1):c.7211-16A>G
|
|
|
NM_004370.6(COL12A1):c.7211-19T>C
|
|
|
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=)
|
rs2149366384
|
|
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
|
|
|
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=)
|
rs35551395
|
|
NM_004370.6(COL12A1):c.73+16C>T
|
|
|
NM_004370.6(COL12A1):c.73+19C>T
|
|
|
NM_004370.6(COL12A1):c.73+8G>A
|
|
|
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=)
|
rs2149366203
|
|
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)
|
|
|
NM_004370.6(COL12A1):c.7355-11C>T
|
|
|
NM_004370.6(COL12A1):c.7355-17T>C
|
|
|
NM_004370.6(COL12A1):c.7355-18A>C
|
|
|
NM_004370.6(COL12A1):c.7355-19T>G
|
|
|
NM_004370.6(COL12A1):c.7355-4G>T
|
rs2149363736
|
|
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=)
|
|
|
NM_004370.6(COL12A1):c.7365C>T (p.Val2455=)
|
|
|
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=)
|
|
|
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=)
|
|
|
NM_004370.6(COL12A1):c.74-15CT[3]
|
rs756206757
|
|
NM_004370.6(COL12A1):c.74-18A>G
|
rs2149482912
|
|
NM_004370.6(COL12A1):c.7401G>A (p.Glu2467=)
|
|
|
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=)
|
rs2149363505
|
|
NM_004370.6(COL12A1):c.7519+17A>G
|
rs2149363447
|
|
NM_004370.6(COL12A1):c.7519+18T>A
|
|
|
NM_004370.6(COL12A1):c.7520-11G>A
|
|
|
NM_004370.6(COL12A1):c.7520-4G>A
|
|
|
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
|
|
|
NM_004370.6(COL12A1):c.7558+17T>C
|
rs1323169221
|
|
NM_004370.6(COL12A1):c.7559-6G>A
|
|
|
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=)
|
rs2149361484
|
|
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=)
|
rs778124838
|
|
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=)
|
rs2149361397
|
|
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=)
|
|
|
NM_004370.6(COL12A1):c.765T>C (p.Asp255=)
|
rs2149475018
|
|
NM_004370.6(COL12A1):c.7697+18_7697+20del
|
|
|
NM_004370.6(COL12A1):c.7697+19G>A
|
|
|
NM_004370.6(COL12A1):c.7698-10T>C
|
|
|
NM_004370.6(COL12A1):c.7698-14G>T
|
|
|
NM_004370.6(COL12A1):c.7698-18_7698-15del
|
|
|
NM_004370.6(COL12A1):c.7698-6C>T
|
rs1582070030
|
|
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=)
|
rs772064054
|
|
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=)
|
rs745685013
|
|
NM_004370.6(COL12A1):c.7743A>G (p.Leu2581=)
|
|
|
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=)
|
rs1768943747
|
|
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)
|
|
|
NM_004370.6(COL12A1):c.7840+9T>G
|
rs774128333
|
|
NM_004370.6(COL12A1):c.7841-18C>T
|
|
|
NM_004370.6(COL12A1):c.7841-4A>G
|
|
|
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=)
|
rs190984968
|
|
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=)
|
rs201337277
|
|
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=)
|
rs1015843320
|
|
NM_004370.6(COL12A1):c.789G>A (p.Glu263=)
|
rs2149474985
|
|
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=)
|
|
|
NM_004370.6(COL12A1):c.7950+10_7950+11del
|
rs762026995
|
|
NM_004370.6(COL12A1):c.7951-14_7951-13del
|
rs745783404
|
|
NM_004370.6(COL12A1):c.7970C>T (p.Ser2657Leu)
|
|
|
NM_004370.6(COL12A1):c.7980T>C (p.Val2660=)
|
|
|
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=)
|
|
|
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=)
|
rs2149353076
|
|
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=)
|
rs2149352990
|
|
NM_004370.6(COL12A1):c.8136A>G (p.Pro2712=)
|
|
|
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
|
|
|
NM_004370.6(COL12A1):c.8178+16T>C
|
|
|
NM_004370.6(COL12A1):c.8179-12T>C
|
|
|
NM_004370.6(COL12A1):c.8179-15T>C
|
|
|
NM_004370.6(COL12A1):c.8179-16C>A
|
|
|
NM_004370.6(COL12A1):c.8179-20T>C
|
|
|
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=)
|
|
|
NM_004370.6(COL12A1):c.823+15G>C
|
|
|
NM_004370.6(COL12A1):c.823+15G>T
|
|
|
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA
|
|
|
NM_004370.6(COL12A1):c.823+19A>G
|
|
|
NM_004370.6(COL12A1):c.823+8A>C
|
rs1769795222
|
|
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=)
|
rs1582055336
|
|
NM_004370.6(COL12A1):c.824-20C>G
|
|
|
NM_004370.6(COL12A1):c.824-20C>T
|
rs369499035
|
|
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=)
|
|
|
NM_004370.6(COL12A1):c.8265+11T>C
|
rs775543292
|
|
NM_004370.6(COL12A1):c.8265+20T>A
|
|
|
NM_004370.6(COL12A1):c.8266-14T>A
|
|
|
NM_004370.6(COL12A1):c.8266-8T>C
|
|
|
NM_004370.6(COL12A1):c.8319+16_8319+17del
|
|
|
NM_004370.6(COL12A1):c.8319+17G>A
|
|
|
NM_004370.6(COL12A1):c.8320-12del
|
rs1436326715
|
|
NM_004370.6(COL12A1):c.8320-16C>G
|
|
|
NM_004370.6(COL12A1):c.8320-9G>A
|
|
|
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=)
|
|
|
NM_004370.6(COL12A1):c.8415+12G>A
|
rs2149344185
|
|
NM_004370.6(COL12A1):c.8415+13C>T
|
rs2149344182
|
|
NM_004370.6(COL12A1):c.8415+17T>C
|
rs2149344172
|
|
NM_004370.6(COL12A1):c.8415+18C>T
|
|
|
NM_004370.6(COL12A1):c.8416-17C>T
|
|
|
NM_004370.6(COL12A1):c.8416-8C>A
|
rs775559307
|
|
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys)
|
|
|
NM_004370.6(COL12A1):c.8469+20G>T
|
rs1768324536
|
|
NM_004370.6(COL12A1):c.8470-12C>T
|
|
|
NM_004370.6(COL12A1):c.8470-4G>T
|
|
|
NM_004370.6(COL12A1):c.8493A>G (p.Pro2831=)
|
|
|
NM_004370.6(COL12A1):c.8523+17del
|
|
|
NM_004370.6(COL12A1):c.8524-10T>G
|
|
|
NM_004370.6(COL12A1):c.8524-12dup
|
rs1261200705
|
|
NM_004370.6(COL12A1):c.8524-15dup
|
rs2149337428
|
|
NM_004370.6(COL12A1):c.8524-6C>A
|
rs777596531
|
|
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=)
|
|
|
NM_004370.6(COL12A1):c.8541C>T (p.Asp2847=)
|
|
|
NM_004370.6(COL12A1):c.8573C>T (p.Pro2858Leu)
|
|
|
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=)
|
|
|
NM_004370.6(COL12A1):c.8577+20C>T
|
|
|
NM_004370.6(COL12A1):c.8578-19C>G
|
|
|
NM_004370.6(COL12A1):c.8578-8T>C
|
rs2149333586
|
|
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=)
|
rs189999387
|
|
NM_004370.6(COL12A1):c.8601C>T (p.Val2867=)
|
|
|
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)
|
|
|
NM_004370.6(COL12A1):c.8613T>C (p.Ser2871=)
|
|
|
NM_004370.6(COL12A1):c.8630C>A (p.Pro2877His)
|
|
|
NM_004370.6(COL12A1):c.8649+10C>G
|
|
|
NM_004370.6(COL12A1):c.8649+13C>A
|
|
|
NM_004370.6(COL12A1):c.8649+13C>G
|
|
|
NM_004370.6(COL12A1):c.8649+16G>C
|
|
|
NM_004370.6(COL12A1):c.8650-14T>A
|
|
|
NM_004370.6(COL12A1):c.8650-19T>C
|
|
|
NM_004370.6(COL12A1):c.8650-20A>C
|
rs1281657456
|
|
NM_004370.6(COL12A1):c.867C>T (p.Ser289=)
|
|
|
NM_004370.6(COL12A1):c.8685+13A>T
|
|
|
NM_004370.6(COL12A1):c.8685+17A>G
|
|
|
NM_004370.6(COL12A1):c.8685+18A>G
|
rs2149328733
|
|
NM_004370.6(COL12A1):c.8685+8T>C
|
rs763115734
|
|
NM_004370.6(COL12A1):c.8686-6A>G
|
|
|
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=)
|
|
|
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=)
|
|
|
NM_004370.6(COL12A1):c.8752+14T>C
|
|
|
NM_004370.6(COL12A1):c.8752+15C>G
|
|
|
NM_004370.6(COL12A1):c.8752+18T>C
|
|
|
NM_004370.6(COL12A1):c.8752+9del
|
|
|
NM_004370.6(COL12A1):c.877C>T (p.Leu293=)
|
|
|
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=)
|
|
|
NM_004370.6(COL12A1):c.8813G>A (p.Arg2938His)
|
|
|
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=)
|
|
|
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=)
|
rs2149327016
|
|
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=)
|
rs2149327011
|
|
NM_004370.6(COL12A1):c.8840C>T (p.Pro2947Leu)
|
|
|
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=)
|
rs2149326931
|
|
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=)
|
rs942666795
|
|
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=)
|
rs774577979
|
|
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=)
|
rs760317754
|
|
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=)
|
rs2149326803
|
|
NM_004370.6(COL12A1):c.892A>C (p.Asn298His)
|
rs1404705545
|
|
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=)
|
rs2149326774
|
|
NM_004370.6(COL12A1):c.8941+14G>C
|
|
|
NM_004370.6(COL12A1):c.8941+16T>C
|
|
|
NM_004370.6(COL12A1):c.8942-14T>G
|
|
|
NM_004370.6(COL12A1):c.8942-5C>A
|
|
|
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=)
|
rs1321003013
|
|
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=)
|
rs1321003013
|
|
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=)
|
rs1321003013
|
|
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=)
|
rs1281725784
|
|
NM_004370.6(COL12A1):c.9011-20T>A
|
rs1336319358
|
|
NM_004370.6(COL12A1):c.9011-20_9011-19del
|
|
|
NM_004370.6(COL12A1):c.9011-8C>T
|
|
|
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)
|
|
|
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)
|
rs572512247
|
|
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=)
|
rs1448973629
|
|
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=)
|
rs777425494
|
|
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)
|
|
|
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)
|
|
|
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)
|
|
|
NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=)
|
|
|
NM_004370.6(COL12A1):c.9181+11G>A
|
|
|
NM_004370.6(COL12A1):c.9181+16T>C
|
|
|
NM_004370.6(COL12A1):c.9181+18T>C
|
|
|
NM_004370.6(COL12A1):c.9181+20G>A
|
|
|
NM_004370.6(COL12A1):c.9182-11A>G
|
|
|
NM_004370.6(COL12A1):c.9182-19C>A
|
rs1767498861
|
|
NM_004370.6(COL12A1):c.939C>T (p.Ile313=)
|
|
|
NM_004370.6(COL12A1):c.974G>A (p.Gly325Asp)
|
|
|
NM_004370.6(COL12A1):c.997+15T>G
|
rs2149473736
|
|
NM_004370.6(COL12A1):c.997+7A>G
|
|
|
NM_004370.6(COL12A1):c.997+9A>G
|
rs560228996
|
|
NM_004370.6(COL12A1):c.998-15C>T
|
|
|
NM_004370.6(COL12A1):c.998-17T>C
|
|
|
NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)
|
|
|
NM_007255.3(B4GALT7):c.135C>T (p.Ser45=)
|
|
|
NM_007255.3(B4GALT7):c.171G>A (p.Val57=)
|
|
|
NM_007255.3(B4GALT7):c.18G>A (p.Arg6=)
|
|
|
NM_007255.3(B4GALT7):c.204C>A (p.Thr68=)
|
rs1767919814
|
|
NM_007255.3(B4GALT7):c.240C>T (p.Pro80=)
|
rs377379133
|
|
NM_007255.3(B4GALT7):c.246G>A (p.Glu82=)
|
|
|
NM_007255.3(B4GALT7):c.261C>T (p.Asp87=)
|
|
|
NM_007255.3(B4GALT7):c.267C>T (p.Ser89=)
|
|
|
NM_007255.3(B4GALT7):c.27G>A (p.Ala9=)
|
rs1448005107
|
|
NM_007255.3(B4GALT7):c.283C>T (p.Leu95=)
|
|
|
NM_007255.3(B4GALT7):c.300C>T (p.Pro100=)
|
|
|
NM_007255.3(B4GALT7):c.324C>T (p.Leu108=)
|
rs1767927262
|
|
NM_007255.3(B4GALT7):c.33G>A (p.Leu11=)
|
rs1005210482
|
|
NM_007255.3(B4GALT7):c.351C>T (p.Arg117=)
|
|
|
NM_007255.3(B4GALT7):c.396C>T (p.Asn132=)
|
|
|
NM_007255.3(B4GALT7):c.408C>T (p.His136=)
|
|
|
NM_007255.3(B4GALT7):c.413+12C>T
|
|
|
NM_007255.3(B4GALT7):c.413+13C>T
|
|
|
NM_007255.3(B4GALT7):c.413+14C>T
|
|
|
NM_007255.3(B4GALT7):c.413+15C>T
|
rs757790046
|
|
NM_007255.3(B4GALT7):c.413+16A>C
|
rs1767932065
|
|
NM_007255.3(B4GALT7):c.413+16A>G
|
|
|
NM_007255.3(B4GALT7):c.413+17C>G
|
|
|
NM_007255.3(B4GALT7):c.413+17C>T
|
|
|
NM_007255.3(B4GALT7):c.413+19C>T
|
|
|
NM_007255.3(B4GALT7):c.421C>A (p.Arg141=)
|
|
|
NM_007255.3(B4GALT7):c.429G>A (p.Ala143=)
|
|
|
NM_007255.3(B4GALT7):c.438C>T (p.Asn146=)
|
|
|
NM_007255.3(B4GALT7):c.486C>T (p.His162=)
|
|
|
NM_007255.3(B4GALT7):c.492T>C (p.Val164=)
|
|
|
NM_007255.3(B4GALT7):c.50+14G>A
|
|
|
NM_007255.3(B4GALT7):c.50+5GCG[4]
|
|
|
NM_007255.3(B4GALT7):c.51-11G>A
|
rs763444666
|
|
NM_007255.3(B4GALT7):c.51-19T>C
|
|
|
NM_007255.3(B4GALT7):c.51-20C>G
|
|
|
NM_007255.3(B4GALT7):c.51-4C>T
|
|
|
NM_007255.3(B4GALT7):c.510C>T (p.Asn170=)
|
|
|
NM_007255.3(B4GALT7):c.519G>A (p.Leu173=)
|
|
|
NM_007255.3(B4GALT7):c.54C>T (p.Ser18=)
|
|
|
NM_007255.3(B4GALT7):c.564G>T (p.Pro188=)
|
|
|
NM_007255.3(B4GALT7):c.579C>T (p.Leu193=)
|
|
|
NM_007255.3(B4GALT7):c.57G>A (p.Gly19=)
|
|
|
NM_007255.3(B4GALT7):c.585C>T (p.His195=)
|
|
|
NM_007255.3(B4GALT7):c.597T>C (p.Tyr199=)
|
rs560198890
|
|
NM_007255.3(B4GALT7):c.633C>T (p.Tyr211=)
|
|
|
NM_007255.3(B4GALT7):c.636G>A (p.Arg212=)
|
|
|
NM_007255.3(B4GALT7):c.639+10G>A
|
rs1023872849
|
|
NM_007255.3(B4GALT7):c.639+13C>A
|
rs746538176
|
|
NM_007255.3(B4GALT7):c.639+9C>A
|
|
|
NM_007255.3(B4GALT7):c.639+9C>T
|
|
|
NM_007255.3(B4GALT7):c.640-14T>G
|
|
|
NM_007255.3(B4GALT7):c.648G>A (p.Gly216=)
|
|
|
NM_007255.3(B4GALT7):c.654C>T (p.Ser218=)
|
rs780413704
|
|
NM_007255.3(B4GALT7):c.678C>T (p.Arg226=)
|
|
|
NM_007255.3(B4GALT7):c.684C>T (p.Asp228=)
|
|
|
NM_007255.3(B4GALT7):c.693C>T (p.Phe231=)
|
|
|
NM_007255.3(B4GALT7):c.705T>A (p.Ile235=)
|
|
|
NM_007255.3(B4GALT7):c.720C>T (p.Leu240=)
|
|
|
NM_007255.3(B4GALT7):c.723+12C>T
|
|
|
NM_007255.3(B4GALT7):c.723+13G>T
|
rs775276570
|
|
NM_007255.3(B4GALT7):c.723+15del
|
rs773263037
|
|
NM_007255.3(B4GALT7):c.723+18C>T
|
|
|
NM_007255.3(B4GALT7):c.724-20A>C
|
|
|
NM_007255.3(B4GALT7):c.724-21_724-19del
|
rs2127514102
|
|
NM_007255.3(B4GALT7):c.724-6C>T
|
|
|
NM_007255.3(B4GALT7):c.72C>T (p.Gly24=)
|
|
|
NM_007255.3(B4GALT7):c.750T>C (p.Thr250=)
|
rs772835831
|
|
NM_007255.3(B4GALT7):c.780C>T (p.Asp260=)
|
|
|
NM_007255.3(B4GALT7):c.786C>A (p.Ala262=)
|
|
|
NM_007255.3(B4GALT7):c.786C>T (p.Ala262=)
|
rs757401980
|
|
NM_007255.3(B4GALT7):c.828+19A>G
|
|
|
NM_007255.3(B4GALT7):c.828+7G>C
|
|
|
NM_007255.3(B4GALT7):c.829-16C>A
|
|
|
NM_007255.3(B4GALT7):c.829-16C>T
|
|
|
NM_007255.3(B4GALT7):c.829-6C>T
|
rs377212592
|
|
NM_007255.3(B4GALT7):c.840G>A (p.Lys280=)
|
|
|
NM_007255.3(B4GALT7):c.864C>T (p.Asn288=)
|
|
|
NM_007255.3(B4GALT7):c.888C>T (p.Ser296=)
|
|
|
NM_007255.3(B4GALT7):c.900G>A (p.Leu300=)
|
rs1421610470
|
|
NM_007255.3(B4GALT7):c.915C>A (p.Ala305=)
|
|
|
NM_007255.3(B4GALT7):c.915C>T (p.Ala305=)
|
|
|
NM_007255.3(B4GALT7):c.918C>T (p.Pro306=)
|
rs2127514617
|
|
NM_007255.3(B4GALT7):c.924T>A (p.Thr308=)
|
|
|
NM_007255.3(B4GALT7):c.927C>T (p.Val309=)
|
|
|
NM_007255.3(B4GALT7):c.945C>T (p.Asp315=)
|
rs2127514653
|
|
NM_007255.3(B4GALT7):c.957C>G (p.Thr319=)
|
|
|
NM_007255.3(B4GALT7):c.957C>T (p.Thr319=)
|
rs138973879
|
|
NM_007255.3(B4GALT7):c.960C>A (p.Ala320=)
|
|
|
NM_007255.3(B4GALT7):c.963A>G (p.Thr321=)
|
|
|
NM_013352.4(DSE):c.102C>T (p.Pro34=)
|
|
|
NM_013352.4(DSE):c.110A>T (p.Asn37Ile)
|
rs371802983
|
|
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
|
|
|
NM_013352.4(DSE):c.1197C>T (p.Val399=)
|
|
|
NM_013352.4(DSE):c.1284T>C (p.Tyr428=)
|
rs1583235798
|
|
NM_013352.4(DSE):c.1293C>A (p.Val431=)
|
|
|
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
|
|
|
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
|
|
|
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
|
|
|
NM_013352.4(DSE):c.144C>T (p.Phe48=)
|
|
|
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
|
|
|
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
|
|
|
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
|
|
|
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
|
|
|
NM_013352.4(DSE):c.16C>A (p.Arg6=)
|
|
|
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
|
|
|
NM_013352.4(DSE):c.1752G>C (p.Ala584=)
|
rs561665809
|
|
NM_013352.4(DSE):c.1809T>C (p.His603=)
|
|
|
NM_013352.4(DSE):c.1897G>A (p.Val633Met)
|
rs550208733
|
|
NM_013352.4(DSE):c.1911G>C (p.Arg637=)
|
rs2115096083
|
|
NM_013352.4(DSE):c.192C>T (p.His64=)
|
|
|
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
|
|
|
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
|
|
|
NM_013352.4(DSE):c.201T>A (p.Ile67=)
|
|
|
NM_013352.4(DSE):c.2031C>T (p.His677=)
|
|
|
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
|
|
|
NM_013352.4(DSE):c.2196C>A (p.Val732=)
|
|
|
NM_013352.4(DSE):c.21G>C (p.Gly7=)
|
|
|
NM_013352.4(DSE):c.2358T>C (p.Thr786=)
|
rs781704477
|
|
NM_013352.4(DSE):c.237G>A (p.Leu79=)
|
|
|
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
|
|
|
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
|
|
|
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
|
|
|
NM_013352.4(DSE):c.2646G>A (p.Gln882=)
|
rs2115099368
|
|
NM_013352.4(DSE):c.264C>G (p.Pro88=)
|
|
|
NM_013352.4(DSE):c.27C>A (p.Pro9=)
|
|
|
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
|
|
|
NM_013352.4(DSE):c.33G>A (p.Val11=)
|
|
|
NM_013352.4(DSE):c.357C>T (p.Asn119=)
|
|
|
NM_013352.4(DSE):c.447C>T (p.Val149=)
|
|
|
NM_013352.4(DSE):c.670+18C>T
|
|
|
NM_013352.4(DSE):c.670+20A>G
|
|
|
NM_013352.4(DSE):c.681A>G (p.Gln227=)
|
|
|
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
|
|
|
NM_013352.4(DSE):c.714C>T (p.Thr238=)
|
|
|
NM_013352.4(DSE):c.780G>T (p.Ala260=)
|
|
|
NM_013352.4(DSE):c.78C>T (p.Asp26=)
|
rs146524076
|
|
NM_013352.4(DSE):c.807C>T (p.Leu269=)
|
|
|
NM_013352.4(DSE):c.910+10G>A
|
|
|
NM_013352.4(DSE):c.910+8G>A
|
|
|
NM_013352.4(DSE):c.910+9A>C
|
|
|
NM_013352.4(DSE):c.945T>C (p.Asn315=)
|
|
|
NM_013352.4(DSE):c.966A>G (p.Pro322=)
|
|
|
NM_013352.4(DSE):c.975A>G (p.Gln325=)
|
|
|
NM_013352.4(DSE):c.981G>A (p.Val327=)
|
rs951430479
|
|
NM_014244.5(ADAMTS2):c.1002C>T (p.Asn334=)
|
rs766934969
|
|
NM_014244.5(ADAMTS2):c.1008T>C (p.Ser336=)
|
rs1581160048
|
|
NM_014244.5(ADAMTS2):c.1017G>A (p.Leu339=)
|
|
|
NM_014244.5(ADAMTS2):c.1020G>A (p.Glu340=)
|
rs2113265237
|
|
NM_014244.5(ADAMTS2):c.1023T>C (p.Asn341=)
|
|
|
NM_014244.5(ADAMTS2):c.1026C>G (p.Val342=)
|
rs1298706423
|
|
NM_014244.5(ADAMTS2):c.1029C>T (p.Cys343=)
|
rs953931922
|
|
NM_014244.5(ADAMTS2):c.102C>T (p.Pro34=)
|
rs1402048390
|
|
NM_014244.5(ADAMTS2):c.1038C>G (p.Ala346=)
|
|
|
NM_014244.5(ADAMTS2):c.1047G>A (p.Gln349=)
|
|
|
NM_014244.5(ADAMTS2):c.105G>A (p.Ala35=)
|
|
|
NM_014244.5(ADAMTS2):c.1077C>T (p.Tyr359=)
|
|
|
NM_014244.5(ADAMTS2):c.108C>T (p.Asn36=)
|
|
|
NM_014244.5(ADAMTS2):c.1098C>T (p.Leu366=)
|
rs374671543
|
|
NM_014244.5(ADAMTS2):c.1110C>T (p.Asp370=)
|
|
|
NM_014244.5(ADAMTS2):c.111C>T (p.Ala37=)
|
rs2127463854
|
|
NM_014244.5(ADAMTS2):c.1122C>G (p.Ser374=)
|
|
|
NM_014244.5(ADAMTS2):c.1132+11C>A
|
|
|
NM_014244.5(ADAMTS2):c.1132+16G>T
|
|
|
NM_014244.5(ADAMTS2):c.1132+17C>G
|
|
|
NM_014244.5(ADAMTS2):c.1132+7C>G
|
|
|
NM_014244.5(ADAMTS2):c.1132+9C>A
|
rs1196360635
|
|
NM_014244.5(ADAMTS2):c.1133-10C>T
|
rs934418118
|
|
NM_014244.5(ADAMTS2):c.1133-15C>T
|
|
|
NM_014244.5(ADAMTS2):c.1133-19G>T
|
|
|
NM_014244.5(ADAMTS2):c.1133-20C>T
|
|
|
NM_014244.5(ADAMTS2):c.1133-5C>A
|
|
|
NM_014244.5(ADAMTS2):c.1133-8C>T
|
rs2113254774
|
|
NM_014244.5(ADAMTS2):c.1134C>T (p.Gly378=)
|
|
|
NM_014244.5(ADAMTS2):c.1149C>G (p.Thr383=)
|
rs199664723
|
|
NM_014244.5(ADAMTS2):c.1161T>C (p.His387=)
|
rs770426851
|
|
NM_014244.5(ADAMTS2):c.1170C>T (p.Arg390=)
|
|
|
NM_014244.5(ADAMTS2):c.117C>A (p.Leu39=)
|
rs1323794483
|
|
NM_014244.5(ADAMTS2):c.117C>T (p.Leu39=)
|
|
|
NM_014244.5(ADAMTS2):c.1206A>G (p.Ser402=)
|
rs2113254497
|
|
NM_014244.5(ADAMTS2):c.120C>A (p.Ala40=)
|
rs2127463847
|
|
NM_014244.5(ADAMTS2):c.120C>G (p.Ala40=)
|
|
|
NM_014244.5(ADAMTS2):c.1221C>T (p.Ala407=)
|
|
|
NM_014244.5(ADAMTS2):c.1238+10del
|
|
|
NM_014244.5(ADAMTS2):c.1238+15G>A
|
|
|
NM_014244.5(ADAMTS2):c.1238+17A>G
|
|
|
NM_014244.5(ADAMTS2):c.1239-14C>T
|
|
|
NM_014244.5(ADAMTS2):c.1239-16G>A
|
rs370225850
|
|
NM_014244.5(ADAMTS2):c.1239-17T>C
|
|
|
NM_014244.5(ADAMTS2):c.1239-6T>C
|
|
|
NM_014244.5(ADAMTS2):c.1245C>G (p.Gly415=)
|
|
|
NM_014244.5(ADAMTS2):c.1263G>A (p.Gln421=)
|
|
|
NM_014244.5(ADAMTS2):c.126C>T (p.Ala42=)
|
|
|
NM_014244.5(ADAMTS2):c.1291C>T (p.Leu431=)
|
rs1445349116
|
|
NM_014244.5(ADAMTS2):c.1293G>A (p.Leu431=)
|
rs952594565
|
|
NM_014244.5(ADAMTS2):c.129C>A (p.Ala43=)
|
rs758316365
|
|
NM_014244.5(ADAMTS2):c.129C>G (p.Ala43=)
|
rs758316365
|
|
NM_014244.5(ADAMTS2):c.129C>T (p.Ala43=)
|
rs758316365
|
|
NM_014244.5(ADAMTS2):c.12G>T (p.Pro4=)
|
|
|
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.1308G>T (p.Ala436=)
|
|
|
NM_014244.5(ADAMTS2):c.1311C>A (p.Pro437=)
|
rs1158008718
|
|
NM_014244.5(ADAMTS2):c.1311C>T (p.Pro437=)
|
rs1158008718
|
|
NM_014244.5(ADAMTS2):c.1335C>T (p.Arg445=)
|
|
|
NM_014244.5(ADAMTS2):c.1356C>T (p.Ser452=)
|
rs2113252195
|
|
NM_014244.5(ADAMTS2):c.1362G>A (p.Gln454=)
|
rs2113252179
|
|
NM_014244.5(ADAMTS2):c.1365G>A (p.Glu455=)
|
|
|
NM_014244.5(ADAMTS2):c.1368G>A (p.Leu456=)
|
|
|
NM_014244.5(ADAMTS2):c.1378C>T (p.Leu460=)
|
rs2113252098
|
|
NM_014244.5(ADAMTS2):c.1382+12C>A
|
rs773245710
|
|
NM_014244.5(ADAMTS2):c.1382+14A>C
|
|
|
NM_014244.5(ADAMTS2):c.1382+17T>G
|
|
|
NM_014244.5(ADAMTS2):c.1382+19C>G
|
|
|
NM_014244.5(ADAMTS2):c.1383-11G>T
|
|
|
NM_014244.5(ADAMTS2):c.1383-15G>C
|
|
|
NM_014244.5(ADAMTS2):c.1383-16C>G
|
|
|
NM_014244.5(ADAMTS2):c.1383-4A>G
|
|
|
NM_014244.5(ADAMTS2):c.1383-6C>G
|
|
|
NM_014244.5(ADAMTS2):c.1383-6C>T
|
|
|
NM_014244.5(ADAMTS2):c.1383-7C>G
|
|
|
NM_014244.5(ADAMTS2):c.1383-8C>G
|
rs748944006
|
|
NM_014244.5(ADAMTS2):c.1383-9C>A
|
|
|
NM_014244.5(ADAMTS2):c.1389T>C (p.Tyr463=)
|
|
|
NM_014244.5(ADAMTS2):c.139+12C>T
|
|
|
NM_014244.5(ADAMTS2):c.139+14G>A
|
|
|
NM_014244.5(ADAMTS2):c.139+17C>T
|
|
|
NM_014244.5(ADAMTS2):c.139+19C>T
|
|
|
NM_014244.5(ADAMTS2):c.1392C>T (p.Asp464=)
|
|
|
NM_014244.5(ADAMTS2):c.1396C>T (p.Leu466=)
|
|
|
NM_014244.5(ADAMTS2):c.140-10C>G
|
rs2127463508
|
|
NM_014244.5(ADAMTS2):c.140-13C>T
|
|
|
NM_014244.5(ADAMTS2):c.140-15C>G
|
|
|
NM_014244.5(ADAMTS2):c.140-16C>T
|
|
|
NM_014244.5(ADAMTS2):c.140-17G>T
|
|
|
NM_014244.5(ADAMTS2):c.140-18C>A
|
|
|
NM_014244.5(ADAMTS2):c.140-18C>T
|
|
|
NM_014244.5(ADAMTS2):c.140-7G>A
|
rs759954552
|
|
NM_014244.5(ADAMTS2):c.140-7G>C
|
|
|
NM_014244.5(ADAMTS2):c.140-9C>T
|
|
|
NM_014244.5(ADAMTS2):c.1407C>T (p.Asp469=)
|
rs1763409611
|
|
NM_014244.5(ADAMTS2):c.1410C>G (p.Pro470=)
|
|
|
NM_014244.5(ADAMTS2):c.1434G>A (p.Leu478=)
|
|
|
NM_014244.5(ADAMTS2):c.144G>A (p.Gly48=)
|
rs2127463501
|
|
NM_014244.5(ADAMTS2):c.1452G>A (p.Leu484=)
|
rs2113250612
|
|
NM_014244.5(ADAMTS2):c.1479C>G (p.Arg493=)
|
rs901870480
|
|
NM_014244.5(ADAMTS2):c.147C>T (p.Pro49=)
|
|
|
NM_014244.5(ADAMTS2):c.148C>T (p.Leu50=)
|
rs1757867571
|
|
NM_014244.5(ADAMTS2):c.1491C>T (p.Gly497=)
|
|
|
NM_014244.5(ADAMTS2):c.1497C>G (p.Gly499=)
|
|
|
NM_014244.5(ADAMTS2):c.1500C>T (p.Tyr500=)
|
rs1763406502
|
|
NM_014244.5(ADAMTS2):c.150G>T (p.Leu50=)
|
|
|
NM_014244.5(ADAMTS2):c.1512G>C (p.Thr504=)
|
rs141369064
|
|
NM_014244.5(ADAMTS2):c.1515+10C>G
|
rs1044323118
|
|
NM_014244.5(ADAMTS2):c.1515+17G>A
|
|
|
NM_014244.5(ADAMTS2):c.1515+18C>T
|
rs771376424
|
|
NM_014244.5(ADAMTS2):c.1515+8T>C
|
|
|
NM_014244.5(ADAMTS2):c.1515+9G>T
|
rs1269715966
|
|
NM_014244.5(ADAMTS2):c.1516-11C>T
|
|
|
NM_014244.5(ADAMTS2):c.1516-12G>A
|
|
|
NM_014244.5(ADAMTS2):c.1516-13T>C
|
|
|
NM_014244.5(ADAMTS2):c.1516-20_1516-19del
|
|
|
NM_014244.5(ADAMTS2):c.1516-4C>T
|
|
|
NM_014244.5(ADAMTS2):c.1516-7C>T
|
|
|
NM_014244.5(ADAMTS2):c.1530C>T (p.Asp510=)
|
rs2113246787
|
|
NM_014244.5(ADAMTS2):c.1545G>A (p.Leu515=)
|
rs2113246753
|
|
NM_014244.5(ADAMTS2):c.1560T>C (p.Pro520=)
|
rs756375016
|
|
NM_014244.5(ADAMTS2):c.156C>T (p.His52=)
|
|
|
NM_014244.5(ADAMTS2):c.1575T>C (p.Phe525=)
|
|
|
NM_014244.5(ADAMTS2):c.1587G>A (p.Lys529=)
|
|
|
NM_014244.5(ADAMTS2):c.1593G>A (p.Gly531=)
|
|
|
NM_014244.5(ADAMTS2):c.1593G>C (p.Gly531=)
|
|
|
NM_014244.5(ADAMTS2):c.1599C>A (p.Pro533=)
|
|
|
NM_014244.5(ADAMTS2):c.1599C>T (p.Pro533=)
|
|
|
NM_014244.5(ADAMTS2):c.15G>C (p.Ala5=)
|
rs1757918431
|
|
NM_014244.5(ADAMTS2):c.15G>T (p.Ala5=)
|
rs1757918431
|
|
NM_014244.5(ADAMTS2):c.1602G>A (p.Leu534=)
|
|
|
NM_014244.5(ADAMTS2):c.1608G>T (p.Gly536=)
|
|
|
NM_014244.5(ADAMTS2):c.1611T>G (p.Thr537=)
|
|
|
NM_014244.5(ADAMTS2):c.1617T>C (p.Cys539=)
|
|
|
NM_014244.5(ADAMTS2):c.1626C>G (p.Gly542=)
|
|
|
NM_014244.5(ADAMTS2):c.1629+11A>C
|
|
|
NM_014244.5(ADAMTS2):c.1629+20T>C
|
|
|
NM_014244.5(ADAMTS2):c.1630-18T>G
|
|
|
NM_014244.5(ADAMTS2):c.1630-19C>A
|
rs2113223531
|
|
NM_014244.5(ADAMTS2):c.1647C>T (p.His549=)
|
rs2113223410
|
|
NM_014244.5(ADAMTS2):c.1650C>T (p.Cys550=)
|
|
|
NM_014244.5(ADAMTS2):c.1653C>T (p.Ile551=)
|
rs747238964
|
|
NM_014244.5(ADAMTS2):c.1659G>A (p.Leu553=)
|
|
|
NM_014244.5(ADAMTS2):c.1665T>C (p.Pro555=)
|
rs2113223348
|
|
NM_014244.5(ADAMTS2):c.1668C>T (p.Asp556=)
|
rs2113223337
|
|
NM_014244.5(ADAMTS2):c.1686C>T (p.Gly562=)
|
|
|
NM_014244.5(ADAMTS2):c.1707G>C (p.Pro569=)
|
rs749970172
|
|
NM_014244.5(ADAMTS2):c.1713C>T (p.Gly571=)
|
|
|
NM_014244.5(ADAMTS2):c.1725T>C (p.Arg575=)
|
rs2113223195
|
|
NM_014244.5(ADAMTS2):c.1728C>T (p.Thr576=)
|
rs776539764
|
|
NM_014244.5(ADAMTS2):c.1740C>T (p.Gly580=)
|
rs745886151
|
|
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=)
|
rs1763133750
|
|
NM_014244.5(ADAMTS2):c.1750A>C (p.Arg584=)
|
rs2113223107
|
|
NM_014244.5(ADAMTS2):c.1755C>T (p.Thr585=)
|
|
|
NM_014244.5(ADAMTS2):c.1775+13C>A
|
rs2113223021
|
|
NM_014244.5(ADAMTS2):c.1775+9G>T
|
rs2113223038
|
|
NM_014244.5(ADAMTS2):c.1776-10T>C
|
|
|
NM_014244.5(ADAMTS2):c.1776-11T>C
|
rs1763095114
|
|
NM_014244.5(ADAMTS2):c.1776-19C>T
|
|
|
NM_014244.5(ADAMTS2):c.1776-7C>T
|
|
|
NM_014244.5(ADAMTS2):c.1776-8T>C
|
rs1763095009
|
|
NM_014244.5(ADAMTS2):c.1776-8T>G
|
|
|
NM_014244.5(ADAMTS2):c.1776-9C>A
|
|
|
NM_014244.5(ADAMTS2):c.1776-9C>T
|
rs1763095056
|
|
NM_014244.5(ADAMTS2):c.177G>A (p.Ala59=)
|
rs2127463492
|
|
NM_014244.5(ADAMTS2):c.1782C>T (p.Ala594=)
|
|
|
NM_014244.5(ADAMTS2):c.1788G>A (p.Gly596=)
|
rs2113218858
|
|
NM_014244.5(ADAMTS2):c.1791C>A (p.Gly597=)
|
|
|
NM_014244.5(ADAMTS2):c.1800C>T (p.Cys600=)
|
rs2113218813
|
|
NM_014244.5(ADAMTS2):c.1803G>C (p.Ser601=)
|
|
|
NM_014244.5(ADAMTS2):c.1824G>A (p.Gln608=)
|
rs1581147040
|
|
NM_014244.5(ADAMTS2):c.1830C>T (p.Cys610=)
|
rs2113218723
|
|
NM_014244.5(ADAMTS2):c.1833C>T (p.Ser611=)
|
|
|
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)
|
rs375775300
|
|
NM_014244.5(ADAMTS2):c.183C>T (p.Pro61=)
|
rs375775300
|
|
NM_014244.5(ADAMTS2):c.1845C>T (p.Cys615=)
|
|
|
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)
|
rs569510744
|
|
NM_014244.5(ADAMTS2):c.1866C>T (p.Phe622=)
|
|
|
NM_014244.5(ADAMTS2):c.1869C>A (p.Arg623=)
|
rs376058580
|
|
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)
|
rs376058580
|
|
NM_014244.5(ADAMTS2):c.186G>A (p.Val62=)
|
rs2127463488
|
|
NM_014244.5(ADAMTS2):c.18A>G (p.Gly6=)
|
|
|
NM_014244.5(ADAMTS2):c.1905G>A (p.Glu635=)
|
|
|
NM_014244.5(ADAMTS2):c.1911C>G (p.Gly637=)
|
rs142275705
|
|
NM_014244.5(ADAMTS2):c.1917C>A (p.Ala639=)
|
|
|
NM_014244.5(ADAMTS2):c.1920G>A (p.Gln640=)
|
rs2113218417
|
|
NM_014244.5(ADAMTS2):c.1923C>T (p.His641=)
|
rs2113218407
|
|
NM_014244.5(ADAMTS2):c.192T>C (p.Thr64=)
|
|
|
NM_014244.5(ADAMTS2):c.192T>G (p.Thr64=)
|
rs1276616753
|
|
NM_014244.5(ADAMTS2):c.1935C>G (p.Pro645=)
|
|
|
NM_014244.5(ADAMTS2):c.1938C>T (p.His646=)
|
rs867867813
|
|
NM_014244.5(ADAMTS2):c.1941G>A (p.Glu647=)
|
|
|
NM_014244.5(ADAMTS2):c.1951+15G>A
|
|
|
NM_014244.5(ADAMTS2):c.1951+16A>G
|
|
|
NM_014244.5(ADAMTS2):c.1951+17G>A
|
|
|
NM_014244.5(ADAMTS2):c.1951+8C>G
|
|
|
NM_014244.5(ADAMTS2):c.1952-11T>C
|
|
|
NM_014244.5(ADAMTS2):c.1952-17A>C
|
|
|
NM_014244.5(ADAMTS2):c.1952-20C>G
|
|
|
NM_014244.5(ADAMTS2):c.1952-20C>T
|
|
|
NM_014244.5(ADAMTS2):c.1952-23_1952-16del
|
rs773015606
|
|
NM_014244.5(ADAMTS2):c.1952-9C>G
|
|
|
NM_014244.5(ADAMTS2):c.1952-9C>T
|
|
|
NM_014244.5(ADAMTS2):c.1974C>T (p.Tyr658=)
|
|
|
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)
|
rs758599662
|
|
NM_014244.5(ADAMTS2):c.1989G>A (p.Glu663=)
|
|
|
NM_014244.5(ADAMTS2):c.1992C>T (p.Thr664=)
|
|
|
NM_014244.5(ADAMTS2):c.1995G>A (p.Gly665=)
|
|
|
NM_014244.5(ADAMTS2):c.2004G>A (p.Val668=)
|
rs531056355
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
NM_014244.5(ADAMTS2):c.2040C>T (p.Cys680=)
|
rs2113214443
|
|
NM_014244.5(ADAMTS2):c.2043C>T (p.Ser681=)
|
rs1239463457
|
|
NM_014244.5(ADAMTS2):c.2046C>T (p.Tyr682=)
|
rs2113214436
|
|
NM_014244.5(ADAMTS2):c.204C>G (p.Gly68=)
|
rs1264559270
|
|
NM_014244.5(ADAMTS2):c.2055C>T (p.Ala685=)
|
|
|
NM_014244.5(ADAMTS2):c.2058C>T (p.Phe686=)
|
|
|
NM_014244.5(ADAMTS2):c.2070G>A (p.Val690=)
|
|
|
NM_014244.5(ADAMTS2):c.2085+10C>T
|
rs2113214298
|
|
NM_014244.5(ADAMTS2):c.2085+16C>T
|
|
|
NM_014244.5(ADAMTS2):c.2085+17C>A
|
|
|
NM_014244.5(ADAMTS2):c.2085+7A>T
|
|
|
NM_014244.5(ADAMTS2):c.2085+8C>T
|
rs199825726
|
|
NM_014244.5(ADAMTS2):c.2086-10C>T
|
|
|
NM_014244.5(ADAMTS2):c.2086-14T>C
|
|
|
NM_014244.5(ADAMTS2):c.2086-15C>A
|
|
|
NM_014244.5(ADAMTS2):c.2086-15C>T
|
|
|
NM_014244.5(ADAMTS2):c.2086-5A>G
|
|
|
NM_014244.5(ADAMTS2):c.2086-6C>T
|
rs2113206493
|
|
NM_014244.5(ADAMTS2):c.2086-7C>T
|
|
|
NM_014244.5(ADAMTS2):c.2086-9C>T
|
rs2113206511
|
|
NM_014244.5(ADAMTS2):c.2094C>G (p.Gly698=)
|
|
|
NM_014244.5(ADAMTS2):c.2112C>T (p.Gly704=)
|
|
|
NM_014244.5(ADAMTS2):c.2130C>T (p.Asp710=)
|
|
|
NM_014244.5(ADAMTS2):c.2157C>T (p.Asn719=)
|
|
|
NM_014244.5(ADAMTS2):c.2163C>T (p.His721=)
|
rs774087568
|
|
NM_014244.5(ADAMTS2):c.216C>A (p.Ser72=)
|
rs754117015
|
|
NM_014244.5(ADAMTS2):c.216C>G (p.Ser72=)
|
rs754117015
|
|
NM_014244.5(ADAMTS2):c.2175C>T (p.Val725=)
|
rs2113206249
|
|
NM_014244.5(ADAMTS2):c.2196A>G (p.Ser732=)
|
|
|
NM_014244.5(ADAMTS2):c.21C>G (p.Ala7=)
|
rs1757917963
|
|
NM_014244.5(ADAMTS2):c.21C>T (p.Ala7=)
|
|
|
NM_014244.5(ADAMTS2):c.2209+12C>T
|
|
|
NM_014244.5(ADAMTS2):c.2209+14T>G
|
|
|
NM_014244.5(ADAMTS2):c.2209+18C>T
|
|
|
NM_014244.5(ADAMTS2):c.2209+20C>A
|
|
|
NM_014244.5(ADAMTS2):c.2209+8G>C
|
|
|
NM_014244.5(ADAMTS2):c.2210-21_2210-20del
|
rs531944108
|
|
NM_014244.5(ADAMTS2):c.2210-4A>C
|
|
|
NM_014244.5(ADAMTS2):c.2210-4A>T
|
|
|
NM_014244.5(ADAMTS2):c.2210-6A>C
|
|
|
NM_014244.5(ADAMTS2):c.2210-9C>T
|
rs199874212
|
|
NM_014244.5(ADAMTS2):c.2214C>T (p.Tyr738=)
|
rs769653741
|
|
NM_014244.5(ADAMTS2):c.2217C>T (p.Ile739=)
|
|
|
NM_014244.5(ADAMTS2):c.2226T>C (p.Phe742=)
|
|
|
NM_014244.5(ADAMTS2):c.222G>A (p.Val74=)
|
|
|
NM_014244.5(ADAMTS2):c.222G>C (p.Val74=)
|
rs2127463467
|
|
NM_014244.5(ADAMTS2):c.2244C>T (p.Ala748=)
|
rs1581143017
|
|
NM_014244.5(ADAMTS2):c.2262G>A (p.Gln754=)
|
rs2113204986
|
|
NM_014244.5(ADAMTS2):c.2268A>T (p.Val756=)
|
|
|
NM_014244.5(ADAMTS2):c.228G>A (p.Ser76=)
|
rs1162154516
|
|
NM_014244.5(ADAMTS2):c.228G>C (p.Ser76=)
|
|
|
NM_014244.5(ADAMTS2):c.2290+10A>G
|
|
|
NM_014244.5(ADAMTS2):c.2290+15C>A
|
|
|
NM_014244.5(ADAMTS2):c.2290+18A>G
|
|
|
NM_014244.5(ADAMTS2):c.2290+19C>T
|
|
|
NM_014244.5(ADAMTS2):c.2290+9C>T
|
|
|
NM_014244.5(ADAMTS2):c.2291-10C>T
|
rs753601981
|
|
NM_014244.5(ADAMTS2):c.2291-17G>T
|
|
|
NM_014244.5(ADAMTS2):c.2291-18T>C
|
|
|
NM_014244.5(ADAMTS2):c.2291-4T>G
|
rs2113200420
|
|
NM_014244.5(ADAMTS2):c.2291-9del
|
|
|
NM_014244.5(ADAMTS2):c.2295C>G (p.Val765=)
|
|
|
NM_014244.5(ADAMTS2):c.2304G>T (p.Leu768=)
|
rs936271491
|
|
NM_014244.5(ADAMTS2):c.2310A>G (p.Thr770=)
|
rs2113200354
|
|
NM_014244.5(ADAMTS2):c.2316G>A (p.Lys772=)
|
|
|
NM_014244.5(ADAMTS2):c.231A>C (p.Ala77=)
|
rs2127463463
|
|
NM_014244.5(ADAMTS2):c.2331A>G (p.Glu777=)
|
rs2113200307
|
|
NM_014244.5(ADAMTS2):c.2334G>A (p.Glu778=)
|
|
|
NM_014244.5(ADAMTS2):c.2340C>T (p.Asp780=)
|
|
|
NM_014244.5(ADAMTS2):c.2352T>C (p.Ser784=)
|
|
|
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=)
|
rs745407557
|
|
NM_014244.5(ADAMTS2):c.2388G>A (p.Glu796=)
|
|
|
NM_014244.5(ADAMTS2):c.2418G>A (p.Leu806=)
|
rs1191831330
|
|
NM_014244.5(ADAMTS2):c.2430C>A (p.Gly810=)
|
rs762314815
|
|
NM_014244.5(ADAMTS2):c.243A>G (p.Arg81=)
|
|
|
NM_014244.5(ADAMTS2):c.2448C>T (p.Ile816=)
|
|
|
NM_014244.5(ADAMTS2):c.2454T>A (p.Val818=)
|
|
|
NM_014244.5(ADAMTS2):c.2454T>C (p.Val818=)
|
rs2113199908
|
|
NM_014244.5(ADAMTS2):c.2455C>T (p.Leu819=)
|
|
|
NM_014244.5(ADAMTS2):c.2457+12C>G
|
|
|
NM_014244.5(ADAMTS2):c.2457+13A>C
|
|
|
NM_014244.5(ADAMTS2):c.2457+16G>C
|
|
|
NM_014244.5(ADAMTS2):c.2457+17C>T
|
|
|
NM_014244.5(ADAMTS2):c.2457+7C>A
|
rs777818449
|
|
NM_014244.5(ADAMTS2):c.2457+7C>T
|
|
|
NM_014244.5(ADAMTS2):c.2458-10del
|
rs748892203
|
|
NM_014244.5(ADAMTS2):c.2458-15C>G
|
|
|
NM_014244.5(ADAMTS2):c.2458-18G>T
|
|
|
NM_014244.5(ADAMTS2):c.2458-4dup
|
rs2113196203
|
|
NM_014244.5(ADAMTS2):c.2458-6G>T
|
|
|
NM_014244.5(ADAMTS2):c.2466G>T (p.Pro822=)
|
rs377085746
|
|
NM_014244.5(ADAMTS2):c.246A>G (p.Ala82=)
|
|
|
NM_014244.5(ADAMTS2):c.2472A>C (p.Gly824=)
|
rs1581140650
|
|
NM_014244.5(ADAMTS2):c.2479C>A (p.Arg827=)
|
|
|
NM_014244.5(ADAMTS2):c.2487A>G (p.Ser829=)
|
rs201592583
|
|
NM_014244.5(ADAMTS2):c.2493G>A (p.Thr831=)
|
rs1210832473
|
|
NM_014244.5(ADAMTS2):c.2499A>G (p.Lys833=)
|
|
|
NM_014244.5(ADAMTS2):c.249G>A (p.Gly83=)
|
rs1757863304
|
|
NM_014244.5(ADAMTS2):c.249G>C (p.Gly83=)
|
|
|
NM_014244.5(ADAMTS2):c.2502C>T (p.Tyr834=)
|
rs1230842657
|
|
NM_014244.5(ADAMTS2):c.2508C>T (p.Ile836=)
|
rs1275040573
|
|
NM_014244.5(ADAMTS2):c.2514G>A (p.Glu838=)
|
|
|
NM_014244.5(ADAMTS2):c.253C>A (p.Arg85=)
|
|
|
NM_014244.5(ADAMTS2):c.2541C>T (p.Asn847=)
|
rs1436992389
|
|
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=)
|
rs1581140577
|
|
NM_014244.5(ADAMTS2):c.2547G>A (p.Leu849=)
|
rs1202859803
|
|
NM_014244.5(ADAMTS2):c.2559T>A (p.Ser853=)
|
rs772792600
|
|
NM_014244.5(ADAMTS2):c.255A>C (p.Arg85=)
|
|
|
NM_014244.5(ADAMTS2):c.2565C>A (p.Val855=)
|
rs2113195729
|
|
NM_014244.5(ADAMTS2):c.2578C>T (p.Leu860=)
|
|
|
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=)
|
rs886060497
|
|
NM_014244.5(ADAMTS2):c.2595G>A (p.Pro865=)
|
rs142355768
|
|
NM_014244.5(ADAMTS2):c.2595G>T (p.Pro865=)
|
rs142355768
|
|
NM_014244.5(ADAMTS2):c.2617+13C>A
|
|
|
NM_014244.5(ADAMTS2):c.2617+13C>T
|
rs756651045
|
|
NM_014244.5(ADAMTS2):c.2617+14G>A
|
rs753127866
|
|
NM_014244.5(ADAMTS2):c.2617+7G>A
|
|
|
NM_014244.5(ADAMTS2):c.2617+8G>A
|
rs2113195552
|
|
NM_014244.5(ADAMTS2):c.2617+9G>A
|
rs943437047
|
|
NM_014244.5(ADAMTS2):c.2617+9G>C
|
|
|
NM_014244.5(ADAMTS2):c.2617+9del
|
rs745450151
|
|
NM_014244.5(ADAMTS2):c.2618-17G>A
|
|
|
NM_014244.5(ADAMTS2):c.2618-9T>C
|
rs2113190668
|
|
NM_014244.5(ADAMTS2):c.261C>T (p.Arg87=)
|
|
|
NM_014244.5(ADAMTS2):c.2622C>T (p.Ser874=)
|
rs2113190624
|
|
NM_014244.5(ADAMTS2):c.2631C>T (p.Thr877=)
|
rs2113190594
|
|
NM_014244.5(ADAMTS2):c.2634G>A (p.Lys878=)
|
rs370686613
|
|
NM_014244.5(ADAMTS2):c.2637T>C (p.Tyr879=)
|
rs1762852594
|
|
NM_014244.5(ADAMTS2):c.2655G>A (p.Leu885=)
|
rs2113190514
|
|
NM_014244.5(ADAMTS2):c.2673C>T (p.His891=)
|
|
|
NM_014244.5(ADAMTS2):c.267C>A (p.Ala89=)
|
rs2127463442
|
|
NM_014244.5(ADAMTS2):c.267C>G (p.Ala89=)
|
rs2127463442
|
|
NM_014244.5(ADAMTS2):c.267C>T (p.Ala89=)
|
|
|
NM_014244.5(ADAMTS2):c.2682C>T (p.Phe894=)
|
|
|
NM_014244.5(ADAMTS2):c.2691C>T (p.Ala897=)
|
|
|
NM_014244.5(ADAMTS2):c.2703C>G (p.Pro901=)
|
rs2113190367
|
|
NM_014244.5(ADAMTS2):c.2703C>T (p.Pro901=)
|
|
|
NM_014244.5(ADAMTS2):c.2721G>C (p.Ala907=)
|
|
|
NM_014244.5(ADAMTS2):c.2730A>T (p.Pro910=)
|
rs6869261
|
|
NM_014244.5(ADAMTS2):c.2739C>T (p.Cys913=)
|
|
|
NM_014244.5(ADAMTS2):c.273G>A (p.Pro91=)
|
rs768036305
|
|
NM_014244.5(ADAMTS2):c.273G>T (p.Pro91=)
|
rs768036305
|
|
NM_014244.5(ADAMTS2):c.2742C>G (p.Ser914=)
|
rs567635584
|
|
NM_014244.5(ADAMTS2):c.2745G>A (p.Gln915=)
|
|
|
NM_014244.5(ADAMTS2):c.2748A>G (p.Pro916=)
|
rs2113190158
|
|
NM_014244.5(ADAMTS2):c.2750+14G>A
|
|
|
NM_014244.5(ADAMTS2):c.2750+14G>C
|
|
|
NM_014244.5(ADAMTS2):c.2750+15C>T
|
|
|
NM_014244.5(ADAMTS2):c.2750+16T>C
|
|
|
NM_014244.5(ADAMTS2):c.2750+17C>T
|
|
|
NM_014244.5(ADAMTS2):c.2750+18G>A
|
|
|
NM_014244.5(ADAMTS2):c.2751-14C>T
|
|
|
NM_014244.5(ADAMTS2):c.2751-16C>T
|
|
|
NM_014244.5(ADAMTS2):c.2751-19C>G
|
|
|
NM_014244.5(ADAMTS2):c.2751-19C>T
|
|
|
NM_014244.5(ADAMTS2):c.2751-20G>A
|
|
|
NM_014244.5(ADAMTS2):c.2751-4G>T
|
rs112155474
|
|
NM_014244.5(ADAMTS2):c.2751-8C>G
|
|
|
NM_014244.5(ADAMTS2):c.2757C>T (p.Val919=)
|
|
|
NM_014244.5(ADAMTS2):c.2787C>A (p.Thr929=)
|
rs149424876
|
|
NM_014244.5(ADAMTS2):c.2787C>T (p.Thr929=)
|
rs149424876
|
|
NM_014244.5(ADAMTS2):c.2790T>C (p.Cys930=)
|
|
|
NM_014244.5(ADAMTS2):c.2793G>A (p.Gly931=)
|
rs2113187995
|
|
NM_014244.5(ADAMTS2):c.279G>C (p.Arg93=)
|
|
|
NM_014244.5(ADAMTS2):c.2814C>T (p.Arg938=)
|
|
|
NM_014244.5(ADAMTS2):c.2820G>A (p.Val940=)
|
rs2113187899
|
|
NM_014244.5(ADAMTS2):c.282C>A (p.Thr94=)
|
|
|
NM_014244.5(ADAMTS2):c.282C>T (p.Thr94=)
|
|
|
NM_014244.5(ADAMTS2):c.2832G>A (p.Gln944=)
|
|
|
NM_014244.5(ADAMTS2):c.2853C>A (p.Thr951=)
|
rs372360565
|
|
NM_014244.5(ADAMTS2):c.285G>C (p.Pro95=)
|
rs1757861087
|
|
NM_014244.5(ADAMTS2):c.285G>T (p.Pro95=)
|
|
|
NM_014244.5(ADAMTS2):c.2889G>A (p.Arg963=)
|
|
|
NM_014244.5(ADAMTS2):c.2901C>T (p.Arg967=)
|
|
|
NM_014244.5(ADAMTS2):c.2904G>T (p.Arg968=)
|
|
|
NM_014244.5(ADAMTS2):c.2907C>T (p.Ala969=)
|
|
|
NM_014244.5(ADAMTS2):c.2916C>A (p.Arg972=)
|
rs201390812
|
|
NM_014244.5(ADAMTS2):c.2925C>T (p.Cys975=)
|
rs1762828613
|
|
NM_014244.5(ADAMTS2):c.2928T>C (p.Pro976=)
|
|
|
NM_014244.5(ADAMTS2):c.2938C>A (p.Arg980=)
|
|
|
NM_014244.5(ADAMTS2):c.2940A>C (p.Arg980=)
|
|
|
NM_014244.5(ADAMTS2):c.294C>A (p.Pro98=)
|
|
|
NM_014244.5(ADAMTS2):c.294C>G (p.Pro98=)
|
|
|
NM_014244.5(ADAMTS2):c.294C>T (p.Pro98=)
|
|
|
NM_014244.5(ADAMTS2):c.2955C>T (p.Ser985=)
|
|
|
NM_014244.5(ADAMTS2):c.2958+10C>G
|
rs955501546
|
|
NM_014244.5(ADAMTS2):c.2958+10C>T
|
rs955501546
|
|
NM_014244.5(ADAMTS2):c.2958+11C>A
|
|
|
NM_014244.5(ADAMTS2):c.2958+15G>A
|
|
|
NM_014244.5(ADAMTS2):c.2958+18C>A
|
|
|
NM_014244.5(ADAMTS2):c.2958+8A>G
|
rs2113187351
|
|
NM_014244.5(ADAMTS2):c.2959-10C>A
|
|
|
NM_014244.5(ADAMTS2):c.2959-13T>C
|
|
|
NM_014244.5(ADAMTS2):c.2959-14C>T
|
|
|
NM_014244.5(ADAMTS2):c.2959-16G>T
|
rs6863024
|
|
NM_014244.5(ADAMTS2):c.2959-4G>A
|
rs2113181889
|
|
NM_014244.5(ADAMTS2):c.2959-5del
|
|
|
NM_014244.5(ADAMTS2):c.2959-6C>G
|
rs2113181904
|
|
NM_014244.5(ADAMTS2):c.2959-7C>T
|
|
|
NM_014244.5(ADAMTS2):c.2961C>T (p.Cys987=)
|
rs1581137330
|
|
NM_014244.5(ADAMTS2):c.2964A>G (p.Ser988=)
|
|
|
NM_014244.5(ADAMTS2):c.2970C>G (p.Thr990=)
|
|
|
NM_014244.5(ADAMTS2):c.297A>G (p.Gly99=)
|
|
|
NM_014244.5(ADAMTS2):c.2991G>A (p.Glu997=)
|
rs1581137308
|
|
NM_014244.5(ADAMTS2):c.3000G>C (p.Val1000=)
|
|
|
NM_014244.5(ADAMTS2):c.3003C>T (p.Leu1001=)
|
rs2113181708
|
|
NM_014244.5(ADAMTS2):c.3012C>A (p.Thr1004=)
|
rs571054777
|
|
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)
|
rs571054777
|
|
NM_014244.5(ADAMTS2):c.3015G>A (p.Ala1005=)
|
|
|
NM_014244.5(ADAMTS2):c.3015G>T (p.Ala1005=)
|
rs1462683964
|
|
NM_014244.5(ADAMTS2):c.3030C>A (p.Gly1010=)
|
|
|
NM_014244.5(ADAMTS2):c.3051T>C (p.Pro1017=)
|
rs2113181493
|
|
NM_014244.5(ADAMTS2):c.3063G>A (p.Arg1021=)
|
|
|
NM_014244.5(ADAMTS2):c.3066C>T (p.Thr1022=)
|
|
|
NM_014244.5(ADAMTS2):c.3069C>T (p.Cys1023=)
|
rs2113181422
|
|
NM_014244.5(ADAMTS2):c.3072G>A (p.Arg1024=)
|
|
|
NM_014244.5(ADAMTS2):c.3078C>A (p.Gly1026=)
|
rs886060491
|
|
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=)
|
rs886060491
|
|
NM_014244.5(ADAMTS2):c.3088+12G>A
|
|
|
NM_014244.5(ADAMTS2):c.3088+16C>G
|
|
|
NM_014244.5(ADAMTS2):c.3088+16_3088+17insGCGCCT
|
|
|
NM_014244.5(ADAMTS2):c.3088+7C>T
|
|
|
NM_014244.5(ADAMTS2):c.3089-13C>G
|
|
|
NM_014244.5(ADAMTS2):c.3089-17C>T
|
|
|
NM_014244.5(ADAMTS2):c.3089-19C>G
|
|
|
NM_014244.5(ADAMTS2):c.3089-20C>A
|
|
|
NM_014244.5(ADAMTS2):c.3089-20C>T
|
|
|
NM_014244.5(ADAMTS2):c.3089-6C>T
|
rs1210414674
|
|
NM_014244.5(ADAMTS2):c.3089-8C>G
|
|
|
NM_014244.5(ADAMTS2):c.3089-8C>T
|
|
|
NM_014244.5(ADAMTS2):c.30C>A (p.Arg10=)
|
rs1757917460
|
|
NM_014244.5(ADAMTS2):c.30C>T (p.Arg10=)
|
|
|
NM_014244.5(ADAMTS2):c.3102T>C (p.Asp1034=)
|
|
|
NM_014244.5(ADAMTS2):c.3105C>G (p.Pro1035=)
|
|
|
NM_014244.5(ADAMTS2):c.3108C>T (p.Ser1036=)
|
|
|
NM_014244.5(ADAMTS2):c.3117C>T (p.Ser1039=)
|
rs1374731675
|
|
NM_014244.5(ADAMTS2):c.3147C>T (p.Asp1049=)
|
|
|
NM_014244.5(ADAMTS2):c.3156G>T (p.Ser1052=)
|
|
|
NM_014244.5(ADAMTS2):c.3159C>T (p.Pro1053=)
|
rs1355717119
|
|
NM_014244.5(ADAMTS2):c.315T>C (p.Pro105=)
|
|
|
NM_014244.5(ADAMTS2):c.3174G>A (p.Ser1058=)
|
rs1167217144
|
|
NM_014244.5(ADAMTS2):c.3174G>C (p.Ser1058=)
|
rs1167217144
|
|
NM_014244.5(ADAMTS2):c.3174G>T (p.Ser1058=)
|
|
|
NM_014244.5(ADAMTS2):c.3178+10C>G
|
|
|
NM_014244.5(ADAMTS2):c.3178+11C>T
|
|
|
NM_014244.5(ADAMTS2):c.3178+12G>T
|
rs1053898928
|
|
NM_014244.5(ADAMTS2):c.3178+15_3178+18del
|
|
|
NM_014244.5(ADAMTS2):c.3178+17T>C
|
|
|
NM_014244.5(ADAMTS2):c.3178+20C>T
|
|
|
NM_014244.5(ADAMTS2):c.3178+7G>C
|
|
|
NM_014244.5(ADAMTS2):c.3178+7G>T
|
rs774767519
|
|
NM_014244.5(ADAMTS2):c.3178+8A>G
|
rs2113178579
|
|
NM_014244.5(ADAMTS2):c.3179-14C>T
|
|
|
NM_014244.5(ADAMTS2):c.3179-19T>C
|
|
|
NM_014244.5(ADAMTS2):c.3179-4T>A
|
rs2113162098
|
|
NM_014244.5(ADAMTS2):c.3204A>C (p.Ser1068=)
|
rs2113162029
|
|
NM_014244.5(ADAMTS2):c.3216G>A (p.Arg1072=)
|
rs1233299160
|
|
NM_014244.5(ADAMTS2):c.3231C>T (p.Ser1077=)
|
|
|
NM_014244.5(ADAMTS2):c.3234C>G (p.Arg1078=)
|
rs1581132640
|
|
NM_014244.5(ADAMTS2):c.3237T>C (p.Tyr1079=)
|
rs2113161951
|
|
NM_014244.5(ADAMTS2):c.3249A>C (p.Pro1083=)
|
rs1581132628
|
|
NM_014244.5(ADAMTS2):c.3252C>T (p.Gly1084=)
|
rs1402465914
|
|
NM_014244.5(ADAMTS2):c.3255C>T (p.Tyr1085=)
|
rs1438867174
|
|
NM_014244.5(ADAMTS2):c.3291C>T (p.Asn1097=)
|
rs1581132604
|
|
NM_014244.5(ADAMTS2):c.3300C>T (p.Thr1100=)
|
rs1284339752
|
|
NM_014244.5(ADAMTS2):c.330C>T (p.Phe110=)
|
rs2127463393
|
|
NM_014244.5(ADAMTS2):c.3312C>A (p.Gly1104=)
|
|
|
NM_014244.5(ADAMTS2):c.3330T>C (p.Pro1110=)
|
|
|
NM_014244.5(ADAMTS2):c.333C>T (p.Tyr111=)
|
|
|
NM_014244.5(ADAMTS2):c.3363T>C (p.Pro1121=)
|
|
|
NM_014244.5(ADAMTS2):c.3366C>T (p.Thr1122=)
|
rs752223388
|
|
NM_014244.5(ADAMTS2):c.3369C>A (p.Leu1123=)
|
|
|
NM_014244.5(ADAMTS2):c.336T>C (p.Asn112=)
|
rs1757858928
|
|
NM_014244.5(ADAMTS2):c.3372A>G (p.Pro1124=)
|
|
|
NM_014244.5(ADAMTS2):c.3375G>A (p.Val1125=)
|
|
|
NM_014244.5(ADAMTS2):c.3378C>G (p.Pro1126=)
|
|
|
NM_014244.5(ADAMTS2):c.3378C>T (p.Pro1126=)
|
rs1412956412
|
|
NM_014244.5(ADAMTS2):c.3384A>G (p.Val1128=)
|
rs2113161464
|
|
NM_014244.5(ADAMTS2):c.3396G>A (p.Val1132=)
|
rs1762619793
|
|
NM_014244.5(ADAMTS2):c.339C>G (p.Val113=)
|
rs143877087
|
|
NM_014244.5(ADAMTS2):c.33G>C (p.Leu11=)
|
|
|
NM_014244.5(ADAMTS2):c.3408A>G (p.Pro1136=)
|
|
|
NM_014244.5(ADAMTS2):c.3414C>T (p.Thr1138=)
|
|
|
NM_014244.5(ADAMTS2):c.3417C>G (p.Pro1139=)
|
|
|
NM_014244.5(ADAMTS2):c.3420G>C (p.Leu1140=)
|
rs571329157
|
|
NM_014244.5(ADAMTS2):c.3438C>T (p.Ala1146=)
|
|
|
NM_014244.5(ADAMTS2):c.3447C>G (p.Thr1149=)
|
|
|
NM_014244.5(ADAMTS2):c.3459G>A (p.Glu1153=)
|
rs2113161261
|
|
NM_014244.5(ADAMTS2):c.345C>T (p.Val115=)
|
rs2127463388
|
|
NM_014244.5(ADAMTS2):c.3465C>T (p.His1155=)
|
rs2113161239
|
|
NM_014244.5(ADAMTS2):c.3477T>C (p.Asn1159=)
|
rs200636359
|
|
NM_014244.5(ADAMTS2):c.3480C>T (p.Ala1160=)
|
rs34437036
|
|
NM_014244.5(ADAMTS2):c.3489A>G (p.Glu1163=)
|
rs764091863
|
|
NM_014244.5(ADAMTS2):c.3508C>T (p.Leu1170=)
|
rs769503304
|
|
NM_014244.5(ADAMTS2):c.3510G>A (p.Leu1170=)
|
rs2113161090
|
|
NM_014244.5(ADAMTS2):c.3513A>G (p.Glu1171=)
|
|
|
NM_014244.5(ADAMTS2):c.351C>T (p.Gly117=)
|
|
|
NM_014244.5(ADAMTS2):c.3522C>A (p.Val1174=)
|
rs1273934347
|
|
NM_014244.5(ADAMTS2):c.3537A>G (p.Leu1179=)
|
|
|
NM_014244.5(ADAMTS2):c.3543T>C (p.Pro1181=)
|
|
|
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu)
|
rs150989902
|
|
NM_014244.5(ADAMTS2):c.3561T>C (p.Tyr1187=)
|
rs752679558
|
|
NM_014244.5(ADAMTS2):c.3567G>A (p.Lys1189=)
|
|
|
NM_014244.5(ADAMTS2):c.3576C>T (p.Asn1192=)
|
|
|
NM_014244.5(ADAMTS2):c.3591G>A (p.Glu1197=)
|
|
|
NM_014244.5(ADAMTS2):c.3594C>T (p.Leu1198=)
|
|
|
NM_014244.5(ADAMTS2):c.3597T>C (p.Ile1199=)
|
rs1245816073
|
|
NM_014244.5(ADAMTS2):c.360G>T (p.Leu120=)
|
|
|
NM_014244.5(ADAMTS2):c.3615A>G (p.Lys1205=)
|
|
|
NM_014244.5(ADAMTS2):c.3627A>G (p.Gly1209=)
|
rs1290092850
|
|
NM_014244.5(ADAMTS2):c.369G>T (p.Arg123=)
|
|
|
NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=)
|
rs1235773868
|
|
NM_014244.5(ADAMTS2):c.396G>T (p.Ala132=)
|
rs770621969
|
|
NM_014244.5(ADAMTS2):c.39C>T (p.Cys13=)
|
rs2127463927
|
|
NM_014244.5(ADAMTS2):c.408T>C (p.Thr136=)
|
rs2127463354
|
|
NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=)
|
rs1581302053
|
|
NM_014244.5(ADAMTS2):c.435C>T (p.Thr145=)
|
rs2127463343
|
|
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=)
|
rs886060496
|
|
NM_014244.5(ADAMTS2):c.450C>A (p.Pro150=)
|
|
|
NM_014244.5(ADAMTS2):c.459G>A (p.Gly153=)
|
|
|
NM_014244.5(ADAMTS2):c.45G>C (p.Ala15=)
|
|
|
NM_014244.5(ADAMTS2):c.474C>T (p.Val158=)
|
|
|
NM_014244.5(ADAMTS2):c.486C>G (p.Ala162=)
|
|
|
NM_014244.5(ADAMTS2):c.486C>T (p.Ala162=)
|
rs774428426
|
|
NM_014244.5(ADAMTS2):c.48G>A (p.Leu16=)
|
rs1342781405
|
|
NM_014244.5(ADAMTS2):c.492A>G (p.Leu164=)
|
rs1581299393
|
|
NM_014244.5(ADAMTS2):c.495C>G (p.Ala165=)
|
rs1757852530
|
|
NM_014244.5(ADAMTS2):c.510G>C (p.Val170=)
|
rs2127463299
|
|
NM_014244.5(ADAMTS2):c.531G>C (p.Gly177=)
|
rs2127463290
|
|
NM_014244.5(ADAMTS2):c.534+13T>G
|
|
|
NM_014244.5(ADAMTS2):c.534+14T>C
|
|
|
NM_014244.5(ADAMTS2):c.534+15C>G
|
|
|
NM_014244.5(ADAMTS2):c.534+17C>G
|
|
|
NM_014244.5(ADAMTS2):c.534+17C>T
|
|
|
NM_014244.5(ADAMTS2):c.534+19A>G
|
|
|
NM_014244.5(ADAMTS2):c.534+20del
|
|
|
NM_014244.5(ADAMTS2):c.534+8C>A
|
|
|
NM_014244.5(ADAMTS2):c.534+8C>G
|
|
|
NM_014244.5(ADAMTS2):c.534+8C>T
|
|
|
NM_014244.5(ADAMTS2):c.534+9G>A
|
rs2271213
|
|
NM_014244.5(ADAMTS2):c.534+9G>T
|
rs2271213
|
|
NM_014244.5(ADAMTS2):c.535-13C>T
|
|
|
NM_014244.5(ADAMTS2):c.535-17T>C
|
|
|
NM_014244.5(ADAMTS2):c.535-21_535-11del
|
|
|
NM_014244.5(ADAMTS2):c.535-6C>A
|
|
|
NM_014244.5(ADAMTS2):c.535-7C>G
|
|
|
NM_014244.5(ADAMTS2):c.535-7C>T
|
rs372454455
|
|
NM_014244.5(ADAMTS2):c.535-8T>C
|
|
|
NM_014244.5(ADAMTS2):c.543G>C (p.Leu181=)
|
rs1349808338
|
|
NM_014244.5(ADAMTS2):c.555G>A (p.Glu185=)
|
rs1355953711
|
|
NM_014244.5(ADAMTS2):c.570C>T (p.Phe190=)
|
|
|
NM_014244.5(ADAMTS2):c.573C>T (p.Ile191=)
|
rs774498509
|
|
NM_014244.5(ADAMTS2):c.579C>G (p.Pro193=)
|
rs1766588917
|
|
NM_014244.5(ADAMTS2):c.580T>C (p.Leu194=)
|
rs1554094148
|
|
NM_014244.5(ADAMTS2):c.592C>T (p.Leu198=)
|
|
|
NM_014244.5(ADAMTS2):c.594G>A (p.Leu198=)
|
rs1766588483
|
|
NM_014244.5(ADAMTS2):c.600G>C (p.Ala200=)
|
rs761444202
|
|
NM_014244.5(ADAMTS2):c.600G>T (p.Ala200=)
|
rs761444202
|
|
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr)
|
rs543859669
|
|
NM_014244.5(ADAMTS2):c.612G>A (p.Glu204=)
|
|
|
NM_014244.5(ADAMTS2):c.618C>A (p.Gly206=)
|
rs1253142639
|
|
NM_014244.5(ADAMTS2):c.621T>C (p.Arg207=)
|
rs763850575
|
|
NM_014244.5(ADAMTS2):c.624G>A (p.Val208=)
|
|
|
NM_014244.5(ADAMTS2):c.633G>A (p.Val211=)
|
|
|
NM_014244.5(ADAMTS2):c.63G>C (p.Leu21=)
|
rs2127463907
|
|
NM_014244.5(ADAMTS2):c.642G>A (p.Arg214=)
|
|
|
NM_014244.5(ADAMTS2):c.648C>A (p.Pro216=)
|
rs2113513153
|
|
NM_014244.5(ADAMTS2):c.64C>T (p.Leu22=)
|
rs2127463905
|
|
NM_014244.5(ADAMTS2):c.654C>A (p.Ser218=)
|
rs1581236091
|
|
NM_014244.5(ADAMTS2):c.654C>G (p.Ser218=)
|
rs1581236091
|
|
NM_014244.5(ADAMTS2):c.654C>T (p.Ser218=)
|
|
|
NM_014244.5(ADAMTS2):c.666G>A (p.Gly222=)
|
|
|
NM_014244.5(ADAMTS2):c.669G>A (p.Gly223=)
|
rs886060495
|
|
NM_014244.5(ADAMTS2):c.66G>C (p.Leu22=)
|
rs1757914356
|
|
NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=)
|
rs1386741882
|
|
NM_014244.5(ADAMTS2):c.678C>T (p.Ala226=)
|
rs766547415
|
|
NM_014244.5(ADAMTS2):c.679C>T (p.Leu227=)
|
|
|
NM_014244.5(ADAMTS2):c.681G>A (p.Leu227=)
|
rs1394677898
|
|
NM_014244.5(ADAMTS2):c.688+12G>A
|
|
|
NM_014244.5(ADAMTS2):c.688+9A>G
|
|
|
NM_014244.5(ADAMTS2):c.689-10C>T
|
rs761165003
|
|
NM_014244.5(ADAMTS2):c.689-11T>C
|
rs1269138698
|
|
NM_014244.5(ADAMTS2):c.689-12C>G
|
|
|
NM_014244.5(ADAMTS2):c.689-12C>T
|
|
|
NM_014244.5(ADAMTS2):c.689-5T>G
|
|
|
NM_014244.5(ADAMTS2):c.689-6T>C
|
|
|
NM_014244.5(ADAMTS2):c.689-7C>T
|
|
|
NM_014244.5(ADAMTS2):c.689-8C>T
|
|
|
NM_014244.5(ADAMTS2):c.689-9T>C
|
rs2113374801
|
|
NM_014244.5(ADAMTS2):c.690G>C (p.Gly230=)
|
rs138176208
|
|
NM_014244.5(ADAMTS2):c.699G>A (p.Leu233=)
|
|
|
NM_014244.5(ADAMTS2):c.69G>A (p.Leu23=)
|
|
|
NM_014244.5(ADAMTS2):c.702C>T (p.Asp234=)
|
|
|
NM_014244.5(ADAMTS2):c.706C>T (p.Leu236=)
|
rs2113374688
|
|
NM_014244.5(ADAMTS2):c.711C>T (p.Asp237=)
|
|
|
NM_014244.5(ADAMTS2):c.714C>T (p.Ser238=)
|
rs2113374639
|
|
NM_014244.5(ADAMTS2):c.720C>T (p.Ser240=)
|
|
|
NM_014244.5(ADAMTS2):c.722_723delinsAT (p.Arg241His)
|
rs2113374579
|
|
NM_014244.5(ADAMTS2):c.723C>A (p.Arg241=)
|
|
|
NM_014244.5(ADAMTS2):c.726C>G (p.Ala242=)
|
|
|
NM_014244.5(ADAMTS2):c.726C>T (p.Ala242=)
|
rs767903981
|
|
NM_014244.5(ADAMTS2):c.738A>G (p.Leu246=)
|
rs2113374482
|
|
NM_014244.5(ADAMTS2):c.750C>T (p.Ala250=)
|
rs2113374415
|
|
NM_014244.5(ADAMTS2):c.753C>T (p.Asn251=)
|
|
|
NM_014244.5(ADAMTS2):c.759G>C (p.Ser253=)
|
|
|
NM_014244.5(ADAMTS2):c.75G>A (p.Pro25=)
|
|
|
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=)
|
rs965841596
|
|
NM_014244.5(ADAMTS2):c.763C>A (p.Arg255=)
|
rs767850400
|
|
NM_014244.5(ADAMTS2):c.768G>A (p.Arg256=)
|
rs2113374347
|
|
NM_014244.5(ADAMTS2):c.783T>C (p.Ala261=)
|
rs2113374285
|
|
NM_014244.5(ADAMTS2):c.795C>T (p.Asp265=)
|
|
|
NM_014244.5(ADAMTS2):c.816G>A (p.Leu272=)
|
rs2113374177
|
|
NM_014244.5(ADAMTS2):c.81C>T (p.Leu27=)
|
rs1288102968
|
|
NM_014244.5(ADAMTS2):c.825T>C (p.Asp275=)
|
rs1398080224
|
|
NM_014244.5(ADAMTS2):c.834G>A (p.Val278=)
|
|
|
NM_014244.5(ADAMTS2):c.840G>A (p.Gln280=)
|
|
|
NM_014244.5(ADAMTS2):c.84G>T (p.Leu28=)
|
|
|
NM_014244.5(ADAMTS2):c.855G>A (p.Glu285=)
|
rs2113374083
|
|
NM_014244.5(ADAMTS2):c.867G>A (p.Lys289=)
|
rs1191391499
|
|
NM_014244.5(ADAMTS2):c.874C>T (p.Leu292=)
|
|
|
NM_014244.5(ADAMTS2):c.876G>A (p.Leu292=)
|
rs2113374018
|
|
NM_014244.5(ADAMTS2):c.891+13G>A
|
|
|
NM_014244.5(ADAMTS2):c.891+14C>G
|
|
|
NM_014244.5(ADAMTS2):c.891+14C>T
|
|
|
NM_014244.5(ADAMTS2):c.891+15T>G
|
|
|
NM_014244.5(ADAMTS2):c.891+17A>G
|
|
|
NM_014244.5(ADAMTS2):c.891+19G>A
|
|
|
NM_014244.5(ADAMTS2):c.891+7G>C
|
|
|
NM_014244.5(ADAMTS2):c.891+7G>T
|
rs770674772
|
|
NM_014244.5(ADAMTS2):c.891+8G>A
|
|
|
NM_014244.5(ADAMTS2):c.892-11G>C
|
|
|
NM_014244.5(ADAMTS2):c.892-7C>G
|
|
|
NM_014244.5(ADAMTS2):c.918C>G (p.Ser306=)
|
rs761998633
|
|
NM_014244.5(ADAMTS2):c.918C>T (p.Ser306=)
|
rs761998633
|
|
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=)
|
rs1764038673
|
|
NM_014244.5(ADAMTS2):c.927C>T (p.Ala309=)
|
rs143588140
|
|
NM_014244.5(ADAMTS2):c.930C>T (p.His310=)
|
rs2113312045
|
|
NM_014244.5(ADAMTS2):c.945G>A (p.Leu315=)
|
|
|
NM_014244.5(ADAMTS2):c.961C>T (p.Leu321=)
|
|
|
NM_014244.5(ADAMTS2):c.963G>C (p.Leu321=)
|
|
|
NM_014244.5(ADAMTS2):c.966C>T (p.Ser322=)
|
rs2113311944
|
|
NM_014244.5(ADAMTS2):c.96G>A (p.Pro32=)
|
|
|
NM_014244.5(ADAMTS2):c.975+18A>G
|
|
|
NM_014244.5(ADAMTS2):c.975+19G>C
|
|
|
NM_014244.5(ADAMTS2):c.976-13C>T
|
|
|
NM_014244.5(ADAMTS2):c.976-14C>A
|
|
|
NM_014244.5(ADAMTS2):c.976-14C>T
|
|
|
NM_014244.5(ADAMTS2):c.976-16C>T
|
|
|
NM_014244.5(ADAMTS2):c.976-18C>A
|
|
|
NM_014244.5(ADAMTS2):c.976-20T>A
|
|
|
NM_014244.5(ADAMTS2):c.976-6C>T
|
|
|
NM_014244.5(ADAMTS2):c.976-7C>T
|
|
|
NM_014244.5(ADAMTS2):c.999G>A (p.Gly333=)
|
rs2113265276
|
|
NM_014244.5(ADAMTS2):c.999G>C (p.Gly333=)
|
|
|
NM_014244.5(ADAMTS2):c.99G>A (p.Pro33=)
|
rs1010032577
|
|
NM_014244.5(ADAMTS2):c.99G>C (p.Pro33=)
|
|
|
NM_014244.5(ADAMTS2):c.99G>T (p.Pro33=)
|
|
|
NM_014244.5(ADAMTS2):c.9G>A (p.Pro3=)
|
rs1757918952
|
|
NM_017946.4(FKBP14):c.105A>G (p.Pro35=)
|
rs1790174432
|
|
NM_017946.4(FKBP14):c.114C>T (p.Cys38=)
|
|
|
NM_017946.4(FKBP14):c.139T>C (p.Leu47=)
|
rs1562840763
|
|
NM_017946.4(FKBP14):c.186A>G (p.Leu62=)
|
|
|
NM_017946.4(FKBP14):c.197+6dup
|
|
|
NM_017946.4(FKBP14):c.198-19T>G
|
rs1562839339
|
|
NM_017946.4(FKBP14):c.198-4A>G
|
rs2127949590
|
|
NM_017946.4(FKBP14):c.198-8T>C
|
|
|
NM_017946.4(FKBP14):c.204A>G (p.Lys68=)
|
|
|
NM_017946.4(FKBP14):c.222C>T (p.Pro74=)
|
rs2127949564
|
|
NM_017946.4(FKBP14):c.24G>T (p.Ala8=)
|
|
|
NM_017946.4(FKBP14):c.306G>A (p.Lys102=)
|
|
|
NM_017946.4(FKBP14):c.325C>T (p.Leu109=)
|
rs2127949515
|
|
NM_017946.4(FKBP14):c.349+10T>G
|
rs369590377
|
|
NM_017946.4(FKBP14):c.349+18T>C
|
|
|
NM_017946.4(FKBP14):c.350-13T>C
|
|
|
NM_017946.4(FKBP14):c.350-17T>C
|
|
|
NM_017946.4(FKBP14):c.350-18C>T
|
|
|
NM_017946.4(FKBP14):c.350-7A>G
|
|
|
NM_017946.4(FKBP14):c.351T>C (p.Gly117=)
|
|
|
NM_017946.4(FKBP14):c.36G>C (p.Leu12=)
|
|
|
NM_017946.4(FKBP14):c.393C>A (p.Leu131=)
|
|
|
NM_017946.4(FKBP14):c.426A>G (p.Glu142=)
|
|
|
NM_017946.4(FKBP14):c.429A>G (p.Ser143=)
|
|
|
NM_017946.4(FKBP14):c.432C>T (p.Phe144=)
|
|
|
NM_017946.4(FKBP14):c.477+15_477+17del
|
rs766444580
|
|
NM_017946.4(FKBP14):c.477+20A>C
|
|
|
NM_017946.4(FKBP14):c.477+20A>T
|
|
|
NM_017946.4(FKBP14):c.477+7T>A
|
rs2127948243
|
|
NM_017946.4(FKBP14):c.478-14C>G
|
rs1218557130
|
|
NM_017946.4(FKBP14):c.478-18G>T
|
|
|
NM_017946.4(FKBP14):c.478-19G>A
|
rs1278077747
|
|
NM_017946.4(FKBP14):c.478-20T>C
|
|
|
NM_017946.4(FKBP14):c.486A>C (p.Ala162=)
|
rs370487182
|
|
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)
|
rs542254849
|
|
NM_017946.4(FKBP14):c.519G>A (p.Ala173=)
|
|
|
NM_017946.4(FKBP14):c.54T>C (p.Ile18=)
|
|
|
NM_017946.4(FKBP14):c.555G>A (p.Glu185=)
|
|
|
NM_017946.4(FKBP14):c.558T>C (p.Asp186=)
|
rs1789837091
|
|
NM_017946.4(FKBP14):c.561T>A (p.Ile187=)
|
rs2127946638
|
|
NM_017946.4(FKBP14):c.576T>C (p.Asp192=)
|
|
|
NM_017946.4(FKBP14):c.57G>A (p.Gly19=)
|
rs2127950905
|
|
NM_017946.4(FKBP14):c.591G>T (p.Gly197=)
|
|
|
NM_017946.4(FKBP14):c.615A>G (p.Thr205=)
|
|
|
NM_017946.4(FKBP14):c.624C>T (p.His208=)
|
rs757161961
|
|
NM_017946.4(FKBP14):c.75A>G (p.Pro25=)
|
|
|
NM_017946.4(FKBP14):c.93T>G (p.Val31=)
|
|
|
NM_017946.4(FKBP14):c.99G>A (p.Gln33=)
|
|
|
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=)
|
rs1416591096
|
|
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)
|
|
|
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=)
|
rs868472493
|
|
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)
|
|
|
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)
|
|
|
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)
|
|
|
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=)
|
rs1179179554
|
|
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)
|
|
|
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)
|
|
|
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=)
|
rs1372150716
|
|
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)
|
|
|
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)
|
|
|
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)
|
|
|
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=)
|
rs1557526065
|
|
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)
|
|
|
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)
|
|
|
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)
|
|
|
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)
|
|
|
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=)
|
rs1224612114
|
|
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)
|
|
|
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)
|
|
|
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=)
|
rs1570498417
|
|
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=)
|
rs1255662040
|
|
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)
|
|
|
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)
|
|
|
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)
|
|
|
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=)
|
rs753855818
|
|
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)
|
|
|
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=)
|
rs1305970798
|
|
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=)
|
rs1570497749
|
|
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)
|
|
|
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)
|
|
|
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)
|
|
|
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)
|
|
|
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)
|
|
|
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)
|
|
|
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)
|
|
|
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)
|
|
|
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)
|
|
|
NM_080605.4(B3GALT6):c.576C>G (p.Val192=)
|
rs762952410
|
|
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=)
|
rs532162467
|
|
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg)
|
rs551984021
|
|
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=)
|
rs562616873
|
|
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)
|
|
|
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)
|
|
|
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)
|
|
|
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)
|
|
|
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)
|
|
|
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)
|
|
|
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)
|
|
|
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)
|
|
|
NM_080605.4(B3GALT6):c.762C>A (p.Val254=)
|
rs2100994568
|
|
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=)
|
rs1334196295
|
|
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=)
|
rs1471341896
|
|
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)
|
|
|
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)
|
|
|
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)
|
|
|
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)
|
|
|
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=)
|
rs1638533336
|
|
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)
|
|
|
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)
|
|
|
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)
|
|
|
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)
|
|
|
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
|
|
|
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
|
|
|
NM_130468.4(CHST14):c.1086T>C (p.Phe362=)
|
rs2141571343
|
|
NM_130468.4(CHST14):c.1101T>C (p.Pro367=)
|
rs1189242847
|
|
NM_130468.4(CHST14):c.1104T>C (p.Asn368=)
|
rs1351942431
|
|
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
|
|
|
NM_130468.4(CHST14):c.114C>G (p.Pro38=)
|
rs2141570382
|
|
NM_130468.4(CHST14):c.117G>A (p.Leu39=)
|
rs2141570389
|
|
NM_130468.4(CHST14):c.135G>C (p.Leu45=)
|
|
|
NM_130468.4(CHST14):c.18G>T (p.Leu6=)
|
|
|
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
|
|
|
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
|
|
|
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
|
|
|
NM_130468.4(CHST14):c.255G>A (p.Gly85=)
|
rs2141570543
|
|
NM_130468.4(CHST14):c.303C>T (p.Asp101=)
|
rs2141570597
|
|
NM_130468.4(CHST14):c.312G>T (p.Val104=)
|
|
|
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
|
|
|
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
|
|
|
NM_130468.4(CHST14):c.409C>T (p.Leu137=)
|
rs2141570724
|
|
NM_130468.4(CHST14):c.462C>T (p.Val154=)
|
rs1478974228
|
|
NM_130468.4(CHST14):c.48G>A (p.Glu16=)
|
|
|
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
|
|
|
NM_130468.4(CHST14):c.516C>T (p.Val172=)
|
|
|
NM_130468.4(CHST14):c.609G>T (p.Leu203=)
|
rs2141570922
|
|
NM_130468.4(CHST14):c.651A>G (p.Glu217=)
|
|
|
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
|
|
|
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
|
|
|
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
|
|
|
NM_130468.4(CHST14):c.750G>T (p.Gly250=)
|
rs1402353708
|
|
NM_130468.4(CHST14):c.834T>C (p.His278=)
|
|
|
NM_130468.4(CHST14):c.846G>A (p.Val282=)
|
|
|
NM_130468.4(CHST14):c.846G>C (p.Val282=)
|
rs139191820
|
|
NM_130468.4(CHST14):c.849C>T (p.Tyr283=)
|
rs1438289059
|
|
NM_130468.4(CHST14):c.90C>A (p.Ala30=)
|
|
|
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
|
|
|
NM_130468.4(CHST14):c.984C>T (p.Tyr328=)
|
rs747403269
|
|
NM_130468.4(CHST14):c.999C>T (p.Pro333=)
|
|
|