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|
rs79210210
|
0.02804
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
NM_000093.5(COL5A1):c.277+57A>G
|
rs141489397
|
0.02688
|
NM_000093.5(COL5A1):c.2286+223G>C
|
rs72774437
|
0.02606
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
NM_000093.5(COL5A1):c.787-181C>T
|
rs111936833
|
0.02537
|
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
NM_000093.5(COL5A1):c.2485-90T>C
|
rs62571363
|
0.02483
|
NM_000093.5(COL5A1):c.2232+36C>T
|
rs45622539
|
0.02468
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
NM_000093.5(COL5A1):c.1882-133A>G
|
rs113765880
|
0.02356
|
NM_000093.5(COL5A1):c.1882-256C>T
|
rs75558962
|
0.02342
|
NM_000093.5(COL5A1):c.3367-86C>T
|
rs62571406
|
0.02305
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_000093.5(COL5A1):c.2646+91C>T
|
rs62571364
|
0.02213
|
NM_000093.5(COL5A1):c.2332-177G>A
|
rs72774444
|
0.02183
|
NM_000093.5(COL5A1):c.1164+94C>T
|
rs113401160
|
0.02154
|
NM_000093.5(COL5A1):c.3366+52G>A
|
rs115451002
|
0.02142
|
NM_000093.5(COL5A1):c.2430+196C>T
|
rs75545068
|
0.02124
|
NM_000093.5(COL5A1):c.924+148G>C
|
rs114738957
|
0.02067
|
NM_000093.5(COL5A1):c.1936-299C>T
|
rs77630402
|
0.02064
|
NM_000093.5(COL5A1):c.655-106G>A
|
rs116164506
|
0.02060
|
NM_000093.5(COL5A1):c.2034+24C>T
|
rs41298367
|
0.02041
|
NM_000093.5(COL5A1):c.2844+41G>T
|
rs76043837
|
0.02031
|
NM_000093.5(COL5A1):c.3853-125C>A
|
rs191746934
|
0.01995
|
NM_000093.5(COL5A1):c.2431-289C>G
|
rs62574086
|
0.01960
|
NM_000093.5(COL5A1):c.1164+87T>A
|
rs142673093
|
0.01946
|
NM_000093.5(COL5A1):c.2088+227G>A
|
rs12351175
|
0.01940
|
NM_000093.5(COL5A1):c.2187+101C>T
|
rs72774432
|
0.01912
|
NM_000093.5(COL5A1):c.3366+245C>A
|
rs138196691
|
0.01790
|
NM_000093.5(COL5A1):c.109+37G>A
|
rs186654380
|
0.01789
|
NM_000093.5(COL5A1):c.2701-186T>C
|
rs114433844
|
0.01740
|
NM_000093.5(COL5A1):c.654+105G>A
|
rs138162275
|
0.01724
|
NM_000093.5(COL5A1):c.924+35C>A
|
rs112243377
|
0.01719
|
NM_000093.5(COL5A1):c.4014+209A>G
|
rs62571407
|
0.01660
|
NM_000093.5(COL5A1):c.2953-301G>C
|
rs62571400
|
0.01645
|
NM_000093.5(COL5A1):c.3115-108C>T
|
rs62571403
|
0.01641
|
NM_000093.5(COL5A1):c.1389+139G>A
|
rs114940455
|
0.01478
|
NM_000093.5(COL5A1):c.492-274C>T
|
rs72772558
|
0.01458
|
NM_000093.5(COL5A1):c.2799+33G>A
|
rs111253752
|
0.01433
|
NM_000093.5(COL5A1):c.109+296A>G
|
rs117721261
|
0.01402
|
NM_000093.5(COL5A1):c.1773+130C>T
|
rs78092926
|
0.01398
|
NM_000093.5(COL5A1):c.925-63C>T
|
rs77043106
|
0.01369
|
NM_000093.5(COL5A1):c.-180C>A
|
rs188194985
|
0.01327
|
NM_000093.5(COL5A1):c.492-76C>G
|
rs73665738
|
0.01306
|
NM_000093.5(COL5A1):c.2592+314C>T
|
rs3124933
|
0.01279
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
NM_000093.5(COL5A1):c.2287-180G>A
|
rs147488096
|
0.01273
|
NM_000093.5(COL5A1):c.1828-79T>G
|
rs112173023
|
0.01267
|
NM_000093.5(COL5A1):c.277+146G>A
|
rs78716219
|
0.01253
|
NM_000093.5(COL5A1):c.924+297C>A
|
rs146783021
|
0.01226
|
NM_000093.5(COL5A1):c.1882-272C>T
|
rs116091044
|
0.01224
|
NM_000093.5(COL5A1):c.2646+138G>A
|
rs114207653
|
0.01179
|
NM_000093.5(COL5A1):c.2646+260A>G
|
rs148809103
|
0.01178
|
NM_000093.5(COL5A1):c.3906+34A>G
|
rs113940604
|
0.01101
|
NM_000093.5(COL5A1):c.4230+52C>T
|
rs72774474
|
0.01068
|
NM_000093.5(COL5A1):c.925-180C>T
|
rs187927679
|
0.01000
|
NM_000093.5(COL5A1):c.2953-46C>T
|
rs138964558
|
0.00995
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_000093.5(COL5A1):c.2485-201C>T
|
rs138282798
|
0.00959
|
NM_000093.5(COL5A1):c.2952+216C>T
|
rs142981679
|
0.00959
|
NM_000093.5(COL5A1):c.4123-302C>G
|
rs115918918
|
0.00920
|
NM_000093.5(COL5A1):c.4123-303C>A
|
rs116404572
|
0.00920
|
NM_000093.5(COL5A1):c.4122+97C>A
|
rs79991766
|
0.00913
|
NM_000093.5(COL5A1):c.4177-151G>T
|
rs113755365
|
0.00893
|
NM_000093.5(COL5A1):c.4015-212C>T
|
rs144404774
|
0.00881
|
NM_000093.5(COL5A1):c.-110A>G
|
rs180741151
|
0.00852
|
NM_000093.5(COL5A1):c.2647-250C>T
|
rs377726116
|
0.00748
|
NM_000093.5(COL5A1):c.2431-295_2431-294del
|
rs552255261
|
0.00730
|
NM_000093.5(COL5A1):c.1773+146G>A
|
rs144431377
|
0.00709
|
NM_000093.5(COL5A1):c.3258+292G>A
|
rs148175755
|
0.00707
|
NM_000093.5(COL5A1):c.3853-50G>A
|
rs7849016
|
0.00706
|
NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
NM_000093.5(COL5A1):c.1881+173G>A
|
rs143376583
|
0.00687
|
NM_000093.5(COL5A1):c.1936-170G>A
|
rs143621182
|
0.00682
|
NM_000093.5(COL5A1):c.2485-199G>A
|
rs141771518
|
0.00656
|
NM_000093.5(COL5A1):c.3259-99A>T
|
rs78713145
|
0.00651
|
NC_000009.12:g.134641511C>G
|
rs77163533
|
0.00640
|
NM_000093.5(COL5A1):c.1165-68G>A
|
rs371233552
|
0.00634
|
NM_000093.5(COL5A1):c.2134-182G>C
|
rs76511953
|
0.00629
|
NM_000093.5(COL5A1):c.4068+117A>G
|
rs148792483
|
0.00613
|
NM_000093.5(COL5A1):c.2898+114C>T
|
rs139330287
|
0.00599
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_000093.5(COL5A1):c.2430+41C>T
|
rs149516949
|
0.00568
|
NM_000093.5(COL5A1):c.1390-306G>C
|
rs188218083
|
0.00563
|
NM_000093.5(COL5A1):c.3367-281C>T
|
rs188531160
|
0.00546
|
NM_000093.5(COL5A1):c.4231-12G>A
|
rs188473199
|
0.00543
|
NM_000093.5(COL5A1):c.1989+182C>T
|
rs41306393
|
0.00528
|
NM_000093.5(COL5A1):c.3690+44C>T
|
rs76739261
|
0.00524
|
NM_000093.5(COL5A1):c.1719+264C>T
|
rs142513996
|
0.00519
|
NM_000093.5(COL5A1):c.4230+219A>G
|
rs146586401
|
0.00519
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00515
|
NM_000093.5(COL5A1):c.787-41G>A
|
rs141083858
|
0.00513
|
NM_000093.5(COL5A1):c.655-328G>T
|
rs112927487
|
0.00511
|
NM_000093.5(COL5A1):c.-37G>A
|
rs374979485
|
0.00508
|
NM_000093.5(COL5A1):c.4339-22G>T
|
rs193107550
|
0.00508
|
NM_000093.5(COL5A1):c.4446+209C>T
|
rs142107844
|
0.00508
|
NM_000093.5(COL5A1):c.4177-187C>G
|
rs115441854
|
0.00504
|
NM_000093.5(COL5A1):c.3115-67G>A
|
rs114607788
|
0.00498
|
NM_000093.5(COL5A1):c.924+293C>G
|
rs80138457
|
0.00495
|
NM_000093.5(COL5A1):c.3852+303C>T
|
rs58905574
|
0.00494
|
NM_000093.5(COL5A1):c.1935+75C>T
|
rs76579401
|
0.00482
|
NM_000093.5(COL5A1):c.2700+187T>C
|
rs117568331
|
0.00471
|
NM_000093.5(COL5A1):c.-382C>G
|
rs555826102
|
0.00465
|
NM_000093.5(COL5A1):c.3744+39C>T
|
rs192855430
|
0.00459
|
NM_000093.5(COL5A1):c.924+322G>A
|
rs113627102
|
0.00436
|
NM_000093.5(COL5A1):c.4015-30C>T
|
rs375387898
|
0.00427
|
NM_000093.5(COL5A1):c.277+157G>A
|
rs116455469
|
0.00425
|
NM_000093.5(COL5A1):c.2593-252G>T
|
rs139465852
|
0.00415
|
NM_000093.5(COL5A1):c.3258+153C>T
|
rs190630304
|
0.00400
|
NM_000093.5(COL5A1):c.2646+216G>A
|
rs147295959
|
0.00390
|
NM_000093.5(COL5A1):c.110-148C>T
|
rs149632687
|
0.00379
|
NM_000093.5(COL5A1):c.491+36G>C
|
rs150536688
|
0.00372
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
NM_000093.5(COL5A1):c.3744+47G>A
|
rs147508352
|
0.00358
|
NM_000093.5(COL5A1):c.1720-208G>A
|
rs149251155
|
0.00349
|
NM_000093.5(COL5A1):c.4068+28G>A
|
rs76835381
|
0.00343
|
NC_000009.12:g.134641590C>T
|
rs12002283
|
0.00340
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_000093.5(COL5A1):c.277+70G>A
|
rs146331857
|
0.00340
|
NM_000093.5(COL5A1):c.277+294C>T
|
rs76266800
|
0.00337
|
NM_000093.5(COL5A1):c.-249G>A
|
rs574222596
|
0.00331
|
NM_000093.5(COL5A1):c.491+124C>T
|
rs575232283
|
0.00324
|
NM_000093.5(COL5A1):c.4069-43T>A
|
rs200969184
|
0.00320
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000093.5(COL5A1):c.1495-106A>G
|
rs12349813
|
0.00314
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_000093.5(COL5A1):c.2089-236C>T
|
rs189006287
|
0.00298
|
NM_000093.5(COL5A1):c.4446+298G>A
|
rs139747118
|
0.00277
|
NM_000093.5(COL5A1):c.2484+25G>C
|
rs200239457
|
0.00253
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_000093.5(COL5A1):c.4176+50A>C
|
rs571141215
|
0.00232
|
NM_000093.5(COL5A1):c.1432-32T>C
|
rs75398357
|
0.00201
|
NM_000093.5(COL5A1):c.1165-43G>A
|
rs200587485
|
0.00195
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_000093.5(COL5A1):c.4446+39G>A
|
rs113451014
|
0.00178
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)
|
rs78215347
|
0.00101
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
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_000093.5(COL5A1):c.1998C>T (p.Asp666=)
|
rs143858735
|
0.00071
|
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr)
|
rs147868179
|
0.00070
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)
|
rs150539264
|
0.00061
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)
|
rs147008954
|
0.00054
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
0.00047
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
NM_000093.5(COL5A1):c.2431-57C>T
|
rs117990742
|
0.00038
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000093.5(COL5A1):c.3690+6T>A
|
rs375998368
|
0.00038
|
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)
|
rs138251296
|
0.00037
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
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_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
0.00024
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000093.5(COL5A1):c.921C>T (p.Pro307=)
|
rs144335980
|
0.00021
|
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser)
|
rs139116598
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met)
|
rs145093766
|
0.00019
|
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln)
|
rs771807198
|
0.00018
|
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)
|
rs145090868
|
0.00017
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
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.2233-21G>C
|
rs201112363
|
0.00014
|
NM_000093.5(COL5A1):c.36G>C (p.Ala12=)
|
rs1029930975
|
0.00014
|
NM_000093.5(COL5A1):c.3906+19C>T
|
rs571788196
|
0.00014
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
NM_000093.5(COL5A1):c.1476C>T (p.Val492=)
|
rs141093527
|
0.00013
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000093.5(COL5A1):c.2845-17C>A
|
rs368737278
|
0.00013
|
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)
|
rs374020067
|
0.00011
|
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)
|
rs200590188
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=)
|
rs199630108
|
0.00011
|
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)
|
rs146195310
|
0.00011
|
NM_000093.5(COL5A1):c.3006+40G>A
|
rs118152606
|
0.00011
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu)
|
rs530442560
|
0.00010
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=)
|
rs142347159
|
0.00010
|
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=)
|
rs367804791
|
0.00010
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu)
|
rs770793962
|
0.00009
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
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.4172A>G (p.Lys1391Arg)
|
rs201801000
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000093.5(COL5A1):c.1495-11C>A
|
rs199501759
|
0.00008
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)
|
rs201220311
|
0.00008
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)
|
rs372109796
|
0.00008
|
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala)
|
rs556167410
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00008
|
NM_000093.5(COL5A1):c.-4C>G
|
rs769694875
|
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.467G>A (p.Arg156Gln)
|
rs770896795
|
0.00007
|
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg)
|
rs863223467
|
0.00007
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
0.00006
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=)
|
rs746323129
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
|
rs376248130
|
0.00006
|
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=)
|
rs372844807
|
0.00006
|
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=)
|
rs145134399
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000093.5(COL5A1):c.408C>T (p.Pro136=)
|
rs376435758
|
0.00006
|
NM_000093.5(COL5A1):c.4231-9G>A
|
rs570545638
|
0.00006
|
NM_000093.5(COL5A1):c.753C>T (p.Thr251=)
|
rs374813957
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000093.5(COL5A1):c.1165-8C>T
|
rs770303209
|
0.00005
|
NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp)
|
rs745360062
|
0.00005
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=)
|
rs981088114
|
0.00005
|
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)
|
rs372082908
|
0.00005
|
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp)
|
rs185912761
|
0.00005
|
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=)
|
rs144775947
|
0.00005
|
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)
|
rs144985214
|
0.00005
|
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys)
|
rs1457110544
|
0.00005
|
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=)
|
rs774035950
|
0.00005
|
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=)
|
rs546229885
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000093.5(COL5A1):c.4068+11A>G
|
rs371926479
|
0.00005
|
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=)
|
rs537406193
|
0.00005
|
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln)
|
rs863223467
|
0.00005
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
0.00004
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)
|
rs372168541
|
0.00004
|
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=)
|
rs746510456
|
0.00004
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
0.00004
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
NM_000093.5(COL5A1):c.219C>T (p.Val73=)
|
rs774691915
|
0.00004
|
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=)
|
rs772257562
|
0.00004
|
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu)
|
rs138259992
|
0.00004
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
NM_000093.5(COL5A1):c.2485-10T>C
|
rs369553063
|
0.00004
|
NM_000093.5(COL5A1):c.2700+47G>C
|
rs533232763
|
0.00004
|
NM_000093.5(COL5A1):c.278-50T>C
|
rs372237723
|
0.00004
|
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)
|
rs370321707
|
0.00004
|
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=)
|
rs770802769
|
0.00004
|
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)
|
rs183114696
|
0.00004
|
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu)
|
rs770737485
|
0.00004
|
NM_000093.5(COL5A1):c.945G>A (p.Thr315=)
|
rs149123775
|
0.00004
|
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile)
|
rs762624092
|
0.00004
|
NM_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.1270A>G (p.Thr424Ala)
|
rs535363331
|
0.00003
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=)
|
rs529255491
|
0.00003
|
NM_000093.5(COL5A1):c.1827+11C>T
|
rs374795810
|
0.00003
|
NM_000093.5(COL5A1):c.2035-10C>T
|
rs754111650
|
0.00003
|
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His)
|
rs371580094
|
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.2484+6C>T
|
rs576976549
|
0.00003
|
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys)
|
rs762336160
|
0.00003
|
NM_000093.5(COL5A1):c.2899-13G>T
|
rs761096695
|
0.00003
|
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu)
|
rs768531108
|
0.00003
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)
|
rs760754491
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=)
|
rs766961124
|
0.00003
|
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln)
|
rs141768094
|
0.00003
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
NM_000093.5(COL5A1):c.3815C>A (p.Pro1272Gln)
|
rs369684394
|
0.00003
|
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=)
|
rs773909152
|
0.00003
|
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
|
rs749162303
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=)
|
rs759256816
|
0.00003
|
NM_000093.5(COL5A1):c.513C>T (p.Ser171=)
|
rs754997436
|
0.00003
|
NM_000093.5(COL5A1):c.615C>A (p.Ile205=)
|
rs201286195
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
NM_000093.5(COL5A1):c.735C>T (p.Asp245=)
|
rs746769184
|
0.00003
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn)
|
rs148288567
|
0.00002
|
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala)
|
rs747758069
|
0.00002
|
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val)
|
rs752746395
|
0.00002
|
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)
|
rs763456705
|
0.00002
|
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=)
|
rs745575705
|
0.00002
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys)
|
rs755546104
|
0.00002
|
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu)
|
rs201375465
|
0.00002
|
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)
|
rs375762619
|
0.00002
|
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg)
|
rs1131691360
|
0.00002
|
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=)
|
rs148094039
|
0.00002
|
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=)
|
rs761257919
|
0.00002
|
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile)
|
rs148793863
|
0.00002
|
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
|
rs766839110
|
0.00002
|
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=)
|
rs763634004
|
0.00002
|
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu)
|
rs780406577
|
0.00002
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)
|
rs780601499
|
0.00002
|
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=)
|
rs377422775
|
0.00002
|
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)
|
rs762625123
|
0.00002
|
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys)
|
rs149717587
|
0.00002
|
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser)
|
rs769814019
|
0.00002
|
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=)
|
rs1057524173
|
0.00002
|
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=)
|
rs145101509
|
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.526A>C (p.Asn176His)
|
rs369396868
|
0.00002
|
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser)
|
rs1060502260
|
0.00002
|
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)
|
rs761259908
|
0.00002
|
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=)
|
rs761397885
|
0.00001
|
NM_000093.5(COL5A1):c.1021G>A (p.Val341Met)
|
rs756703956
|
0.00001
|
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=)
|
rs370018361
|
0.00001
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00001
|
NM_000093.5(COL5A1):c.1089C>G (p.Asn363Lys)
|
rs773870913
|
0.00001
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)
|
rs768269251
|
0.00001
|
NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu)
|
rs1052185173
|
0.00001
|
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=)
|
rs775974461
|
0.00001
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=)
|
rs200959477
|
0.00001
|
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu)
|
rs753549769
|
0.00001
|
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)
|
rs1057518771
|
0.00001
|
NM_000093.5(COL5A1):c.1465A>G (p.Thr489Ala)
|
rs863223468
|
0.00001
|
NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu)
|
rs144909439
|
0.00001
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
NM_000093.5(COL5A1):c.164T>C (p.Ile55Thr)
|
rs899196123
|
0.00001
|
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=)
|
rs143647239
|
0.00001
|
NM_000093.5(COL5A1):c.1720-11T>A
|
rs863223444
|
0.00001
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu)
|
rs749007253
|
0.00001
|
NM_000093.5(COL5A1):c.1840A>C (p.Ser614Arg)
|
rs863223477
|
0.00001
|
NM_000093.5(COL5A1):c.1990-12T>C
|
rs776163211
|
0.00001
|
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys)
|
rs764603796
|
0.00001
|
NM_000093.5(COL5A1):c.2032C>T (p.Pro678Ser)
|
rs756190610
|
0.00001
|
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu)
|
rs1389473144
|
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.2238C>T (p.Pro746=)
|
rs373617798
|
0.00001
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
NM_000093.5(COL5A1):c.2331+11G>A
|
rs753145256
|
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.2390C>T (p.Ala797Val)
|
rs745370910
|
0.00001
|
NM_000093.5(COL5A1):c.2430+4A>C
|
rs772211603
|
0.00001
|
NM_000093.5(COL5A1):c.243G>A (p.Ala81=)
|
rs540291731
|
0.00001
|
NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu)
|
rs558752105
|
0.00001
|
NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln)
|
rs1837405294
|
0.00001
|
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His)
|
rs767925708
|
0.00001
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=)
|
rs770622608
|
0.00001
|
NM_000093.5(COL5A1):c.2661C>A (p.Phe887Leu)
|
rs1424208076
|
0.00001
|
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val)
|
rs759338898
|
0.00001
|
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=)
|
rs749844592
|
0.00001
|
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)
|
rs1131691874
|
0.00001
|
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln)
|
rs574551567
|
0.00001
|
NM_000093.5(COL5A1):c.2845-11T>C
|
rs769433136
|
0.00001
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
NM_000093.5(COL5A1):c.2898+20C>T
|
rs781174331
|
0.00001
|
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser)
|
rs1189111524
|
0.00001
|
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val)
|
rs761639579
|
0.00001
|
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met)
|
rs776676564
|
0.00001
|
NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser)
|
rs193920927
|
0.00001
|
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu)
|
rs1001786208
|
0.00001
|
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser)
|
rs536758248
|
0.00001
|
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser)
|
rs763310793
|
0.00001
|
NM_000093.5(COL5A1):c.324C>T (p.Ala108=)
|
rs765929345
|
0.00001
|
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His)
|
rs1482501113
|
0.00001
|
NM_000093.5(COL5A1):c.3330G>A (p.Gln1110=)
|
rs1461218386
|
0.00001
|
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala)
|
rs926426117
|
0.00001
|
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu)
|
rs139039658
|
0.00001
|
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro)
|
rs863223449
|
0.00001
|
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile)
|
rs1057524867
|
0.00001
|
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu)
|
rs749093832
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000093.5(COL5A1):c.3622C>T (p.Leu1208Phe)
|
rs863223450
|
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.370G>A (p.Gly124Ser)
|
rs1356081271
|
0.00001
|
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile)
|
rs769091549
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=)
|
rs1363178603
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
|
rs765217611
|
0.00001
|
NM_000093.5(COL5A1):c.4210C>A (p.Gln1404Lys)
|
rs1441922749
|
0.00001
|
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys)
|
rs376893441
|
0.00001
|
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser)
|
rs370151534
|
0.00001
|
NM_000093.5(COL5A1):c.427C>A (p.His143Asn)
|
rs863223465
|
0.00001
|
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly)
|
rs765920886
|
0.00001
|
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)
|
rs755495352
|
0.00001
|
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser)
|
rs757989702
|
0.00001
|
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)
|
rs201875250
|
0.00001
|
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser)
|
rs750864661
|
0.00001
|
NM_000093.5(COL5A1):c.458C>A (p.Pro153His)
|
rs771925785
|
0.00001
|
NM_000093.5(COL5A1):c.474C>T (p.Ile158=)
|
rs372769772
|
0.00001
|
NM_000093.5(COL5A1):c.492-16A>G
|
rs775028310
|
0.00001
|
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
|
rs188120737
|
0.00001
|
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys)
|
rs765170704
|
0.00001
|
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln)
|
rs1382944823
|
0.00001
|
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)
|
rs775853003
|
0.00001
|
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly)
|
rs1433120962
|
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.790A>C (p.Thr264Pro)
|
rs863223440
|
0.00001
|
NM_000093.5(COL5A1):c.801C>T (p.Asp267=)
|
rs778401280
|
0.00001
|
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=)
|
rs771253587
|
0.00001
|
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met)
|
rs1312200383
|
0.00001
|
NM_000093.5(COL5A1):c.846C>T (p.Asp282=)
|
rs775736911
|
0.00001
|
NM_000093.5(COL5A1):c.849C>T (p.Pro283=)
|
rs761805821
|
0.00001
|
NM_000093.5(COL5A1):c.888C>T (p.Pro296=)
|
rs747624704
|
0.00001
|
NM_000093.5(COL5A1):c.962C>T (p.Pro321Leu)
|
rs1085307805
|
0.00001
|
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys)
|
rs199857770
|
0.00001
|
NM_000093.5(COL5A1):c.977G>A (p.Gly326Glu)
|
rs748152732
|
0.00001
|
NM_000093.5(COL5A1):c.987G>A (p.Lys329=)
|
rs769516996
|
0.00001
|
GRCh37/hg19 9q34.3(chr9:137434514-137638766)x3
|
|
|
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
|
|
|
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
|
|
|
NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)
|
|
|
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu)
|
rs1834832160
|
|
NM_000093.5(COL5A1):c.1021G>T (p.Val341Leu)
|
|
|
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)
|
rs1588479393
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
|
|
|
NM_000093.5(COL5A1):c.1081G>A (p.Glu361Lys)
|
rs1834836876
|
|
NM_000093.5(COL5A1):c.109+8179C>T
|
|
|
NM_000093.5(COL5A1):c.1094A>T (p.Asp365Val)
|
|
|
NM_000093.5(COL5A1):c.1183G>T (p.Glu395Ter)
|
rs1554788339
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1207G>T (p.Glu403Ter)
|
rs886043641
|
|
NM_000093.5(COL5A1):c.1222A>G (p.Thr408Ala)
|
rs1588480833
|
|
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)
|
rs758197769
|
|
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])
|
rs745934765
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3])
|
rs745934765
|
|
NM_000093.5(COL5A1):c.1264G>A (p.Asp422Asn)
|
|
|
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=)
|
rs572136244
|
|
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
|
|
|
NM_000093.5(COL5A1):c.129G>A (p.Leu43=)
|
rs1588441009
|
|
NM_000093.5(COL5A1):c.12T>G (p.His4Gln)
|
rs368818087
|
|
NM_000093.5(COL5A1):c.1332+1G>T
|
rs1064796684
|
|
NM_000093.5(COL5A1):c.1333-3C>G
|
rs1238061655
|
|
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
|
|
|
NM_000093.5(COL5A1):c.1364del (p.Lys455fs)
|
rs1564418237
|
|
NM_000093.5(COL5A1):c.1370A>G (p.Glu457Gly)
|
rs2132643376
|
|
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser)
|
rs368168386
|
|
NM_000093.5(COL5A1):c.1389+2T>C
|
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
NM_000093.5(COL5A1):c.1410G>A (p.Pro470=)
|
rs148389741
|
|
NM_000093.5(COL5A1):c.1410G>C (p.Pro470=)
|
rs148389741
|
|
NM_000093.5(COL5A1):c.1428C>G (p.Pro476=)
|
rs745633063
|
|
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr)
|
rs774936702
|
|
NM_000093.5(COL5A1):c.1431+6T>G
|
rs2132655326
|
|
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu)
|
rs565329216
|
|
NM_000093.5(COL5A1):c.1494+129del
|
rs112726102
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.1502del (p.Pro501fs)
|
rs1085307855
|
|
NM_000093.5(COL5A1):c.1503del (p.Gly502fs)
|
rs1554792011
|
|
NM_000093.5(COL5A1):c.1535T>C (p.Leu512Pro)
|
rs863223442
|
|
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
|
rs878853652
|
|
NM_000093.5(COL5A1):c.157G>C (p.Asp53His)
|
rs763026096
|
|
NM_000093.5(COL5A1):c.1628A>G (p.Glu543Gly)
|
rs2132683265
|
|
NM_000093.5(COL5A1):c.1662+134T>C
|
rs60008082
|
|
NM_000093.5(COL5A1):c.1663-158del
|
rs11386016
|
|
NM_000093.5(COL5A1):c.1663-159_1663-158del
|
rs11386016
|
|
NM_000093.5(COL5A1):c.1663-160G>T
|
rs56669635
|
|
NM_000093.5(COL5A1):c.1663-160_1663-158del
|
rs11386016
|
|
NM_000093.5(COL5A1):c.1663-166G>T
|
rs112206433
|
|
NM_000093.5(COL5A1):c.1663-1G>C
|
rs794727114
|
|
NM_000093.5(COL5A1):c.1663-273_1663-224dup
|
rs532542070
|
|
NM_000093.5(COL5A1):c.1671G>A (p.Leu557=)
|
|
|
NM_000093.5(COL5A1):c.1687C>G (p.Pro563Ala)
|
|
|
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu)
|
rs753260027
|
|
NM_000093.5(COL5A1):c.1720-158C>G
|
rs73664129
|
|
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
|
|
|
NM_000093.5(COL5A1):c.1726C>A (p.Pro576Thr)
|
|
|
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala)
|
rs754773665
|
|
NM_000093.5(COL5A1):c.1827+12G>A
|
rs1251697175
|
|
NM_000093.5(COL5A1):c.1827+134C>T
|
rs528098067
|
|
NM_000093.5(COL5A1):c.1828-147G>A
|
rs150730683
|
|
NM_000093.5(COL5A1):c.1828-263G>A
|
rs114326916
|
|
NM_000093.5(COL5A1):c.1850C>A (p.Ala617Asp)
|
|
|
NM_000093.5(COL5A1):c.1881+287G>A
|
rs116268806
|
|
NM_000093.5(COL5A1):c.1881+292G>A
|
rs7025035
|
|
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)
|
rs781663334
|
|
NM_000093.5(COL5A1):c.1936-16C>G
|
rs199694949
|
|
NM_000093.5(COL5A1):c.1936-21G>C
|
rs77716946
|
|
NM_000093.5(COL5A1):c.1937G>A (p.Gly646Asp)
|
|
|
NM_000093.5(COL5A1):c.1949C>G (p.Pro650Arg)
|
rs150890005
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.1989+14C>T
|
|
|
NM_000093.5(COL5A1):c.1989+1G>A
|
rs1836462685
|
|
NM_000093.5(COL5A1):c.2019del (p.Leu674fs)
|
|
|
NM_000093.5(COL5A1):c.2034+1G>A
|
rs886042173
|
|
NM_000093.5(COL5A1):c.2044G>A (p.Gly682Ser)
|
rs1588524307
|
|
NM_000093.5(COL5A1):c.2088+18C>G
|
rs889625058
|
|
NM_000093.5(COL5A1):c.2089-62C>T
|
|
|
NM_000093.5(COL5A1):c.212C>G (p.Pro71Arg)
|
|
|
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)
|
rs1554796176
|
|
NM_000093.5(COL5A1):c.2149C>T (p.Pro717Ser)
|
|
|
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)
|
rs863223469
|
|
NM_000093.5(COL5A1):c.2162dup (p.Gln722fs)
|
rs863223470
|
|
NM_000093.5(COL5A1):c.2182G>C (p.Ala728Pro)
|
|
|
NM_000093.5(COL5A1):c.2191C>G (p.Leu731Val)
|
|
|
NM_000093.5(COL5A1):c.2196A>G (p.Pro732=)
|
rs1588526318
|
|
NM_000093.5(COL5A1):c.2233-142G>C
|
rs41302968
|
|
NM_000093.5(COL5A1):c.2233-99G>A
|
rs77818497
|
|
NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg)
|
rs1588527590
|
|
NM_000093.5(COL5A1):c.2262A>G (p.Gly754=)
|
rs1836755970
|
|
NM_000093.5(COL5A1):c.2286+178A>C
|
rs146398092
|
|
NM_000093.5(COL5A1):c.2331+109G>A
|
rs10125874
|
|
NM_000093.5(COL5A1):c.2331+247_2331+265dup
|
rs6151208
|
|
NM_000093.5(COL5A1):c.2332-20C>T
|
rs1588534559
|
|
NM_000093.5(COL5A1):c.2332-9T>G
|
rs1554797620
|
|
NM_000093.5(COL5A1):c.2347_2348insT (p.Gln783fs)
|
rs863223471
|
|
NM_000093.5(COL5A1):c.2385G>A (p.Lys795=)
|
rs1554797638
|
|
NM_000093.5(COL5A1):c.2386-174C>T
|
rs77928388
|
|
NM_000093.5(COL5A1):c.2386-210_2386-209del
|
rs35886496
|
|
NM_000093.5(COL5A1):c.2392G>A (p.Asp798Asn)
|
rs979271877
|
|
NM_000093.5(COL5A1):c.2401C>T (p.Arg801Cys)
|
|
|
NM_000093.5(COL5A1):c.242C>T (p.Ala81Val)
|
|
|
NM_000093.5(COL5A1):c.2430+16C>T
|
rs530385215
|
|
NM_000093.5(COL5A1):c.2430+1G>A
|
rs1060502248
|
|
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys)
|
rs1554798924
|
|
NM_000093.5(COL5A1):c.2440_2447dup (p.Gly817fs)
|
|
|
NM_000093.5(COL5A1):c.2463C>T (p.Asp821=)
|
rs1588542906
|
|
NM_000093.5(COL5A1):c.2484+14G>A
|
rs371753763
|
|
NM_000093.5(COL5A1):c.2485-191C>A
|
rs7855838
|
|
NM_000093.5(COL5A1):c.2485-191C>T
|
rs7855838
|
|
NM_000093.5(COL5A1):c.2485-34_2485-33insGGCA
|
rs376936600
|
|
NM_000093.5(COL5A1):c.2485-34_2485-33insGGGGCA
|
rs376936600
|
|
NM_000093.5(COL5A1):c.2485-39_2485-38insT
|
rs779225921
|
|
NM_000093.5(COL5A1):c.2485-39_2485-38insTGT
|
rs779225921
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
NM_000093.5(COL5A1):c.2524C>A (p.Pro842Thr)
|
rs1588545921
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2578C>T (p.Pro860Ser)
|
|
|
NM_000093.5(COL5A1):c.2592+16C>G
|
rs145429817
|
|
NM_000093.5(COL5A1):c.2592+75G>A
|
rs71506921
|
|
NM_000093.5(COL5A1):c.2593-273C>A
|
rs141782203
|
|
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=)
|
rs143161140
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
NM_000093.5(COL5A1):c.2701-349_2701-346del
|
rs138377947
|
|
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter)
|
rs863223478
|
|
NM_000093.5(COL5A1):c.273C>A (p.Tyr91Ter)
|
rs1341789008
|
|
NM_000093.5(COL5A1):c.2740C>T (p.Pro914Ser)
|
rs2132802525
|
|
NM_000093.5(COL5A1):c.2741C>T (p.Pro914Leu)
|
|
|
NM_000093.5(COL5A1):c.2746-12C>G
|
rs1554801436
|
|
NM_000093.5(COL5A1):c.2765G>T (p.Gly922Val)
|
rs1564463870
|
|
NM_000093.5(COL5A1):c.277+82G>A
|
rs116650621
|
|
NM_000093.5(COL5A1):c.2771G>C (p.Arg924Pro)
|
rs768711320
|
|
NM_000093.5(COL5A1):c.2784del (p.Lys929fs)
|
rs863223472
|
|
NM_000093.5(COL5A1):c.2799+112dup
|
rs79903250
|
|
NM_000093.5(COL5A1):c.2800-18C>A
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2800-18dup
|
rs749260939
|
|
NM_000093.5(COL5A1):c.2807C>G (p.Ser936Cys)
|
|
|
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg)
|
rs1330022009
|
|
NM_000093.5(COL5A1):c.2826T>C (p.Ala942=)
|
rs1837911181
|
|
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=)
|
rs1421835224
|
|
NM_000093.5(COL5A1):c.2845-90G>A
|
rs140168393
|
|
NM_000093.5(COL5A1):c.2866C>A (p.Pro956Thr)
|
rs2132807920
|
|
NM_000093.5(COL5A1):c.2882G>A (p.Gly961Glu)
|
rs2132807966
|
|
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu)
|
rs376435205
|
|
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)
|
rs1179967153
|
|
NM_000093.5(COL5A1):c.2898+287TC[3]
|
rs10636721
|
|
NM_000093.5(COL5A1):c.2898+53_2898+72del
|
rs142676375
|
|
NM_000093.5(COL5A1):c.2899-72G>A
|
rs73561905
|
|
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)
|
rs759627305
|
|
NM_000093.5(COL5A1):c.2923C>G (p.Pro975Ala)
|
rs2132811634
|
|
NM_000093.5(COL5A1):c.292G>T (p.Glu98Ter)
|
rs369126350
|
|
NM_000093.5(COL5A1):c.2952+2_2952+3del
|
rs1588562135
|
|
NM_000093.5(COL5A1):c.2953-153del
|
rs35171316
|
|
NM_000093.5(COL5A1):c.2953-153dup
|
rs35171316
|
|
NM_000093.5(COL5A1):c.2953-235AG[3]
|
rs56665904
|
|
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs)
|
rs764693725
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
|
NM_000093.5(COL5A1):c.3013A>G (p.Thr1005Ala)
|
rs863223446
|
|
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys)
|
rs1060502249
|
|
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr)
|
rs1554781477
|
|
NM_000093.5(COL5A1):c.3060del (p.Gly1021fs)
|
rs1838166153
|
|
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)
|
rs863223473
|
|
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del)
|
rs863223476
|
|
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala)
|
rs751792216
|
|
NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu)
|
|
|
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter)
|
rs387906606
|
|
NM_000093.5(COL5A1):c.3197G>C (p.Gly1066Ala)
|
rs2132827340
|
|
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu)
|
rs863223447
|
|
NM_000093.5(COL5A1):c.3254C>T (p.Pro1085Leu)
|
rs1588570027
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.3271G>T (p.Glu1091Ter)
|
rs2132830490
|
|
NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg)
|
rs1377049332
|
|
NM_000093.5(COL5A1):c.3350G>C (p.Gly1117Ala)
|
rs863223448
|
|
NM_000093.5(COL5A1):c.3389C>T (p.Pro1130Leu)
|
rs1838417405
|
|
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)
|
rs886042045
|
|
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser)
|
rs775559638
|
|
NM_000093.5(COL5A1):c.3413G>A (p.Gly1138Glu)
|
|
|
NM_000093.5(COL5A1):c.3415C>T (p.Pro1139Ser)
|
rs1838418529
|
|
NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg)
|
|
|
NM_000093.5(COL5A1):c.3474+48G>A
|
rs79433650
|
|
NM_000093.5(COL5A1):c.3475-139A>C
|
rs112889019
|
|
NM_000093.5(COL5A1):c.3475-208G>T
|
rs13293484
|
|
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu)
|
rs1838466921
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter)
|
|
|
NM_000093.5(COL5A1):c.3528+46G>C
|
rs3827850
|
|
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val)
|
rs1588577285
|
|
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)
|
rs766961124
|
|
NM_000093.5(COL5A1):c.3575G>A (p.Gly1192Asp)
|
rs2132844472
|
|
NM_000093.5(COL5A1):c.3582+4A>C
|
rs1064796967
|
|
NM_000093.5(COL5A1):c.3612C>T (p.Gly1204=)
|
rs778501874
|
|
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu)
|
rs748000980
|
|
NM_000093.5(COL5A1):c.3648T>C (p.Gly1216=)
|
rs1588577626
|
|
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu)
|
rs886039091
|
|
NM_000093.5(COL5A1):c.3720T>C (p.Gly1240=)
|
rs1554805072
|
|
NM_000093.5(COL5A1):c.3726_3732del (p.Gly1243fs)
|
rs1554805076
|
|
NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His)
|
|
|
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala)
|
rs533597740
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3764G>A (p.Gly1255Asp)
|
rs1064796975
|
|
NM_000093.5(COL5A1):c.3775C>G (p.Pro1259Ala)
|
rs1352207961
|
|
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg)
|
rs772445337
|
|
NM_000093.5(COL5A1):c.3804dup (p.Gln1269fs)
|
rs1588578971
|
|
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter)
|
rs1554805142
|
|
NM_000093.5(COL5A1):c.380A>G (p.Gln127Arg)
|
|
|
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu)
|
rs369684394
|
|
NM_000093.5(COL5A1):c.383T>C (p.Ile128Thr)
|
rs863223464
|
|
NM_000093.5(COL5A1):c.3844G>A (p.Gly1282Arg)
|
rs1838574740
|
|
NM_000093.5(COL5A1):c.3852+205del
|
rs10708719
|
|
NM_000093.5(COL5A1):c.3852+47_3852+48del
|
rs761727852
|
|
NM_000093.5(COL5A1):c.3852+48GT[10]
|
rs375849402
|
|
NM_000093.5(COL5A1):c.3852+48GT[8]
|
rs375849402
|
|
NM_000093.5(COL5A1):c.3852+62_3852+63del
|
rs112541886
|
|
NM_000093.5(COL5A1):c.3852+62_3852+65del
|
rs538329277
|
|
NM_000093.5(COL5A1):c.3852+62_3852+69del
|
rs879323430
|
|
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
|
|
|
NM_000093.5(COL5A1):c.3873T>A (p.Gly1291=)
|
rs1005323480
|
|
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg)
|
rs201920777
|
|
NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu)
|
rs201920777
|
|
NM_000093.5(COL5A1):c.3905del (p.Pro1302fs)
|
rs1564477140
|
|
NM_000093.5(COL5A1):c.3906+3G>T
|
rs786200922
|
|
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=)
|
rs367804791
|
|
NM_000093.5(COL5A1):c.3938A>G (p.Glu1313Gly)
|
rs2132853684
|
|
NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=)
|
|
|
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser)
|
rs1838678972
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000093.5(COL5A1):c.4000C>A (p.Pro1334Thr)
|
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala)
|
rs762699995
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.405T>C (p.Ser135=)
|
rs2132569922
|
|
NM_000093.5(COL5A1):c.4065del (p.Ala1356fs)
|
|
|
NM_000093.5(COL5A1):c.4068+87_4068+90del
|
rs141938982
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser)
|
rs2132856128
|
|
NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu)
|
rs1170899907
|
|
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe)
|
rs145757313
|
|
NM_000093.5(COL5A1):c.4123-69A>G
|
rs3811149
|
|
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs)
|
rs1131691820
|
|
NM_000093.5(COL5A1):c.4151G>T (p.Gly1384Val)
|
|
|
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=)
|
rs1383677988
|
|
NM_000093.5(COL5A1):c.4167A>G (p.Pro1389=)
|
rs2132858820
|
|
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
NM_000093.5(COL5A1):c.4176+162C>A
|
rs79839026
|
|
NM_000093.5(COL5A1):c.4176+257C>G
|
rs11103537
|
|
NM_000093.5(COL5A1):c.4176+3A>T
|
rs1554806134
|
|
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup)
|
rs2132861348
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NM_000093.5(COL5A1):c.4184del (p.Pro1395fs)
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rs794727760
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NM_000093.5(COL5A1):c.4230+77G>A
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rs146381563
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NM_000093.5(COL5A1):c.4230G>C (p.Lys1410Asn)
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rs863223453
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NM_000093.5(COL5A1):c.4231-309C>T
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rs150983463
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NM_000093.5(COL5A1):c.4235A>T (p.Glu1412Val)
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rs1838863376
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NM_000093.5(COL5A1):c.4282C>T (p.Gln1428Ter)
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rs863223454
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NM_000093.5(COL5A1):c.4283del (p.Gln1428fs)
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rs863223474
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NM_000093.5(COL5A1):c.4288G>A (p.Ala1430Thr)
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rs863223455
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NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
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rs2132864295
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NM_000093.5(COL5A1):c.431C>T (p.Thr144Met)
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rs561761305
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NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
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rs864622040
|
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NM_000093.5(COL5A1):c.4366G>A (p.Gly1456Ser)
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rs1564481153
|
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NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val)
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rs1564481157
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NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn)
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rs577270517
|
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NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu)
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rs201335857
|
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NM_000093.5(COL5A1):c.4392+4A>C
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rs863223456
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NM_000093.5(COL5A1):c.4392+5G>A
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rs886043312
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NM_000093.5(COL5A1):c.4402G>A (p.Gly1468Arg)
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rs1554806670
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NM_000093.5(COL5A1):c.458C>T (p.Pro153Leu)
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rs771925785
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NM_000093.5(COL5A1):c.487_488delinsTT (p.Gly163Phe)
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rs2132570241
|
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NM_000093.5(COL5A1):c.491+5G>C
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rs2132570262
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NM_000093.5(COL5A1):c.497A>G (p.His166Arg)
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rs1057524357
|
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NM_000093.5(COL5A1):c.514G>A (p.Val172Ile)
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rs150147262
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NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
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rs150147262
|
|
NM_000093.5(COL5A1):c.523A>C (p.Lys175Gln)
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|
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NM_000093.5(COL5A1):c.550A>G (p.Lys184Glu)
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rs2132572947
|
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NM_000093.5(COL5A1):c.558G>A (p.Lys186=)
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rs1564397188
|
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NM_000093.5(COL5A1):c.580A>G (p.Ser194Gly)
|
rs2132573049
|
|
NM_000093.5(COL5A1):c.592A>G (p.Met198Val)
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rs1833664488
|
|
NM_000093.5(COL5A1):c.594G>A (p.Met198Ile)
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|
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NM_000093.5(COL5A1):c.597C>T (p.Ile199=)
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rs147008954
|
|
NM_000093.5(COL5A1):c.616G>T (p.Val206Leu)
|
rs777065347
|
|
NM_000093.5(COL5A1):c.620T>G (p.Phe207Cys)
|
rs2132573278
|
|
NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu)
|
rs2132454969
|
|
NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala)
|
|
|
NM_000093.5(COL5A1):c.654+165T>G
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rs11103472
|
|
NM_000093.5(COL5A1):c.655-186_655-185insACGGATGGATGG
|
rs139171326
|
|
NM_000093.5(COL5A1):c.655-1G>C
|
rs1554787526
|
|
NM_000093.5(COL5A1):c.655-219GGAT[7]
|
rs71381829
|
|
NM_000093.5(COL5A1):c.655-219GGAT[9]
|
rs71381829
|
|
NM_000093.5(COL5A1):c.658G>A (p.Asp220Asn)
|
|
|
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
|
|
|
NM_000093.5(COL5A1):c.669G>A (p.Gln223=)
|
rs1300899218
|
|
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.695C>A (p.Ala232Glu)
|
|
|
NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu)
|
rs1064796482
|
|
NM_000093.5(COL5A1):c.709T>C (p.Cys237Arg)
|
rs2132632719
|
|
NM_000093.5(COL5A1):c.71_74delinsCCCC (p.Leu24_Leu25delinsProPro)
|
|
|
NM_000093.5(COL5A1):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs1554787557
|
|
NM_000093.5(COL5A1):c.762G>A (p.Ser254=)
|
rs767928508
|
|
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn)
|
rs886038237
|
|
NM_000093.5(COL5A1):c.779A>T (p.Asp260Val)
|
|
|
NM_000093.5(COL5A1):c.787-8G>A
|
rs780803048
|
|
NM_000093.5(COL5A1):c.787-9C>T
|
rs751472921
|
|
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe)
|
rs1383699147
|
|
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser)
|
rs748603743
|
|
NM_000093.5(COL5A1):c.859G>A (p.Gly287Arg)
|
|
|
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter)
|
rs1554787811
|
|
NM_000093.5(COL5A1):c.924+18G>C
|
|
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NM_000093.5(COL5A1):c.924+194A>C
|
rs3128597
|
|
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.94C>T (p.Pro32Ser)
|
rs886042620
|
|
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
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|
|
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu)
|
rs576742644
|
|
NM_000093.5(COL5A1):c.993G>A (p.Glu331=)
|
rs1834830929
|
|
Single allele
|
|
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