|
NM_000093.5(COL5A1):c.4645-112A>T
|
rs3128599
|
0.85666
|
|
NM_000093.5(COL5A1):c.4645-111T>G
|
rs3124936
|
0.85662
|
|
NM_000093.5(COL5A1):c.*2395G>T
|
rs4504708
|
0.76943
|
|
NM_000093.5(COL5A1):c.*83C>T
|
rs13946
|
0.76018
|
|
NM_000093.5(COL5A1):c.4699-219A>G
|
rs3128602
|
0.75035
|
|
NM_000093.5(COL5A1):c.4955-28T>C
|
rs7868111
|
0.71059
|
|
NM_000093.5(COL5A1):c.5067+119C>T
|
rs4842172
|
0.69021
|
|
NM_000093.5(COL5A1):c.*1125A>T
|
rs1134170
|
0.66610
|
|
NM_000093.5(COL5A1):c.4608+31T>C
|
rs9697186
|
0.65324
|
|
NM_000093.5(COL5A1):c.*2501T>C
|
rs3128575
|
0.63348
|
|
NM_000093.5(COL5A1):c.4554+321T>C
|
rs4842171
|
0.55702
|
|
NM_000093.5(COL5A1):c.5136+280G>A
|
rs3128578
|
0.55167
|
|
NM_000093.5(COL5A1):c.4609-278G>C
|
rs35328624
|
0.54579
|
|
NM_000093.5(COL5A1):c.4955-258C>T
|
rs9409997
|
0.51462
|
|
NM_000093.5(COL5A1):c.4955-259C>A
|
rs9409996
|
0.50392
|
|
NM_000093.5(COL5A1):c.*267C>T
|
rs12722
|
0.43648
|
|
NM_000093.5(COL5A1):c.4609-269G>A
|
rs10657539
|
0.41039
|
|
NM_000093.5(COL5A1):c.5068-279C>A
|
rs55906519
|
0.32438
|
|
NM_000093.5(COL5A1):c.5068-177C>A
|
rs12353380
|
0.32178
|
|
NM_000093.5(COL5A1):c.4698+135C>T
|
rs3128601
|
0.28726
|
|
NM_000093.5(COL5A1):c.5136+421C>T
|
rs4842174
|
0.23337
|
|
NM_000093.5(COL5A1):c.*894T>C
|
rs11103544
|
0.20603
|
|
NM_000093.5(COL5A1):c.4955-311C>T
|
rs56195655
|
0.20073
|
|
NM_000093.5(COL5A1):c.4609-278del
|
rs66657532
|
0.16442
|
|
NM_000093.5(COL5A1):c.5371-289T>C
|
rs11103543
|
0.15240
|
|
NM_000093.5(COL5A1):c.5371-66T>G
|
rs12554062
|
0.12739
|
|
NM_000093.5(COL5A1):c.4555-294G>A
|
rs10858284
|
0.11489
|
|
NM_000093.5(COL5A1):c.5371-42A>C
|
rs114101109
|
0.07567
|
|
NM_000093.5(COL5A1):c.*311C>T
|
rs1134114
|
0.06809
|
|
NM_000093.5(COL5A1):c.4608+195G>A
|
rs74960017
|
0.06286
|
|
NM_000093.5(COL5A1):c.*1443G>A
|
rs10895
|
0.05700
|
|
NM_000093.5(COL5A1):c.4644+176G>A
|
rs59721025
|
0.05263
|
|
NM_000093.5(COL5A1):c.4699-24C>T
|
rs45443491
|
0.04875
|
|
NM_000093.5(COL5A1):c.4447-45G>A
|
rs3811147
|
0.04567
|
|
NM_000093.5(COL5A1):c.4609-134A>G
|
rs12346222
|
0.04553
|
|
NM_000093.5(COL5A1):c.4554+263G>A
|
rs55768823
|
0.04377
|
|
NM_000093.5(COL5A1):c.4609-269dup
|
rs141689755
|
0.03911
|
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
|
NM_000093.5(COL5A1):c.5068-170C>T
|
rs73664157
|
0.02947
|
|
NM_000093.5(COL5A1):c.5137-142C>T
|
rs76439190
|
0.02791
|
|
NM_000093.5(COL5A1):c.*1562A>G
|
rs116561240
|
0.02592
|
|
NM_000093.5(COL5A1):c.5137-104C>T
|
rs77932602
|
0.02522
|
|
NM_000093.5(COL5A1):c.*1642G>A
|
rs116053626
|
0.02360
|
|
NM_000093.5(COL5A1):c.4955-137C>T
|
rs72774480
|
0.02351
|
|
NM_000093.5(COL5A1):c.4609-107G>A
|
rs73664153
|
0.02347
|
|
NM_000093.5(COL5A1):c.*1922G>A
|
rs74979726
|
0.02332
|
|
NM_000093.5(COL5A1):c.*724C>T
|
rs116156416
|
0.02219
|
|
NM_000093.5(COL5A1):c.4644+99C>G
|
rs116680869
|
0.02154
|
|
NM_000093.5(COL5A1):c.4644+129C>G
|
rs114653197
|
0.02093
|
|
NM_000093.5(COL5A1):c.4699-140C>T
|
rs113110193
|
0.01856
|
|
NM_000093.5(COL5A1):c.4698+146G>A
|
rs75918373
|
0.01816
|
|
NM_000093.5(COL5A1):c.4554+307C>A
|
rs117105170
|
0.01783
|
|
NM_000093.5(COL5A1):c.4955-16C>T
|
rs112712705
|
0.01710
|
|
NM_000093.5(COL5A1):c.4955-119C>T
|
rs112278047
|
0.01700
|
|
NM_000093.5(COL5A1):c.4955-297G>T
|
rs111857754
|
0.01698
|
|
NM_000093.5(COL5A1):c.5067+20C>G
|
rs112600748
|
0.01689
|
|
NM_000093.5(COL5A1):c.*1637C>A
|
rs148823980
|
0.01576
|
|
NM_000093.5(COL5A1):c.*1806C>T
|
rs11556648
|
0.01480
|
|
NM_000093.5(COL5A1):c.5068-7T>C
|
rs113256540
|
0.01472
|
|
NM_000093.5(COL5A1):c.*660G>A
|
rs73664168
|
0.01440
|
|
NM_000093.5(COL5A1):c.5068-128C>A
|
rs113810157
|
0.01372
|
|
NM_000093.5(COL5A1):c.5067+47G>A
|
rs78846229
|
0.01207
|
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
|
NM_000093.5(COL5A1):c.5068-85A>G
|
rs112132700
|
0.01168
|
|
NM_000093.5(COL5A1):c.4447-44C>T
|
rs112700360
|
0.01108
|
|
NM_000093.5(COL5A1):c.4554+102C>T
|
rs73561955
|
0.01101
|
|
NM_000093.5(COL5A1):c.5068-260T>C
|
rs13294921
|
0.01075
|
|
NM_000093.5(COL5A1):c.5068-96G>A
|
rs112225289
|
0.01043
|
|
NM_000093.5(COL5A1):c.4447-101C>T
|
rs80224569
|
0.00955
|
|
NM_000093.5(COL5A1):c.4699-6C>T
|
rs113090154
|
0.00923
|
|
NM_000093.5(COL5A1):c.4698+289C>T
|
rs115080537
|
0.00920
|
|
NM_000093.5(COL5A1):c.*629A>G
|
rs150345666
|
0.00897
|
|
NM_000093.5(COL5A1):c.5136+152C>T
|
rs113504942
|
0.00827
|
|
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)
|
rs61729558
|
0.00781
|
|
NM_000093.5(COL5A1):c.4699-60C>T
|
rs78125481
|
0.00777
|
|
NM_000093.5(COL5A1):c.5136+40A>G
|
rs183298179
|
0.00678
|
|
NM_000093.5(COL5A1):c.4954+21G>T
|
rs143914892
|
0.00669
|
|
NM_000093.5(COL5A1):c.*283G>A
|
rs114171895
|
0.00635
|
|
NM_000093.5(COL5A1):c.*14C>T
|
rs12553247
|
0.00580
|
|
NM_000093.5(COL5A1):c.4609-280del
|
rs1171345687
|
0.00570
|
|
NM_000093.5(COL5A1):c.5371-46C>T
|
rs73664167
|
0.00567
|
|
NM_000093.5(COL5A1):c.*269C>T
|
rs372857096
|
0.00557
|
|
NM_000093.5(COL5A1):c.4447-349G>A
|
rs149799871
|
0.00556
|
|
NM_000093.5(COL5A1):c.4609-281T>G
|
rs542541481
|
0.00522
|
|
NM_000093.5(COL5A1):c.5137-11T>C
|
rs183495554
|
0.00512
|
|
NM_000093.5(COL5A1):c.4608+232C>T
|
rs141398004
|
0.00507
|
|
NM_000093.5(COL5A1):c.*190G>A
|
rs55748801
|
0.00500
|
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
|
NM_000093.5(COL5A1):c.5370+279G>T
|
rs542725585
|
0.00481
|
|
NM_000093.5(COL5A1):c.4955-48G>A
|
rs60879388
|
0.00480
|
|
NM_000093.5(COL5A1):c.4698+136G>A
|
rs369932934
|
0.00477
|
|
NM_000093.5(COL5A1):c.4698+154G>A
|
rs181768633
|
0.00473
|
|
NM_000093.5(COL5A1):c.5136+192G>A
|
rs73561989
|
0.00466
|
|
NM_000093.5(COL5A1):c.5068-86A>G
|
rs552183981
|
0.00457
|
|
NM_000093.5(COL5A1):c.4954+242C>G
|
rs114261060
|
0.00448
|
|
NM_000093.5(COL5A1):c.4698+121C>T
|
rs145056122
|
0.00425
|
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
|
NM_000093.5(COL5A1):c.4954+230C>T
|
rs73561969
|
0.00334
|
|
NM_000093.5(COL5A1):c.4554+247C>G
|
rs535186026
|
0.00328
|
|
NM_000093.5(COL5A1):c.4954+128A>G
|
rs111413734
|
0.00325
|
|
NM_000093.5(COL5A1):c.4609-34G>A
|
rs115403176
|
0.00256
|
|
NM_000093.5(COL5A1):c.*58C>T
|
rs56259444
|
0.00207
|
|
NM_000093.5(COL5A1):c.4554+105C>T
|
rs533312238
|
0.00172
|
|
NM_000093.5(COL5A1):c.*2429T>C
|
rs56031840
|
0.00148
|
|
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=)
|
rs138436047
|
0.00116
|
|
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
|
rs113452150
|
0.00092
|
|
NM_000093.5(COL5A1):c.*1343A>G
|
rs77145856
|
0.00088
|
|
NM_000093.5(COL5A1):c.*187C>T
|
rs565085023
|
0.00085
|
|
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)
|
rs149212775
|
0.00083
|
|
NM_000093.5(COL5A1):c.*865T>A
|
rs910306671
|
0.00073
|
|
NM_000093.5(COL5A1):c.*2485G>A
|
rs146334187
|
0.00057
|
|
NM_000093.5(COL5A1):c.*42C>G
|
rs374547961
|
0.00041
|
|
NM_000093.5(COL5A1):c.*55G>A
|
rs533831376
|
0.00039
|
|
NM_000093.5(COL5A1):c.*424A>G
|
rs574355137
|
0.00037
|
|
NM_000093.5(COL5A1):c.*479G>A
|
rs184272423
|
0.00034
|
|
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)
|
rs149959668
|
0.00034
|
|
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val)
|
rs145175057
|
0.00034
|
|
NM_000093.5(COL5A1):c.5370+11C>T
|
rs764644830
|
0.00032
|
|
NM_000093.5(COL5A1):c.5371-17G>A
|
rs376639668
|
0.00025
|
|
NM_000093.5(COL5A1):c.*145G>A
|
rs181323324
|
0.00023
|
|
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val)
|
rs138068984
|
0.00022
|
|
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=)
|
rs140031713
|
0.00022
|
|
NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro)
|
rs768691969
|
0.00021
|
|
NM_000093.5(COL5A1):c.*2294A>T
|
rs571153134
|
0.00019
|
|
NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr)
|
rs150083065
|
0.00018
|
|
NM_000093.5(COL5A1):c.5137-8C>T
|
rs374377228
|
0.00017
|
|
NM_000093.5(COL5A1):c.*1734G>A
|
rs886063688
|
0.00016
|
|
NM_000093.5(COL5A1):c.*1845A>G
|
rs553877631
|
0.00016
|
|
NM_000093.5(COL5A1):c.*1848C>G
|
rs886063692
|
0.00016
|
|
NM_000093.5(COL5A1):c.*2175G>A
|
rs781775180
|
0.00016
|
|
NM_000093.5(COL5A1):c.5370+14G>A
|
rs201082330
|
0.00016
|
|
NM_000093.5(COL5A1):c.4954+16G>A
|
rs370938164
|
0.00015
|
|
NM_000093.5(COL5A1):c.*1287C>T
|
rs189437752
|
0.00012
|
|
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)
|
rs201871481
|
0.00012
|
|
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)
|
rs767284056
|
0.00012
|
|
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)
|
rs147398633
|
0.00011
|
|
NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His)
|
rs199998065
|
0.00011
|
|
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)
|
rs747549921
|
0.00011
|
|
NM_000093.5(COL5A1):c.5136+73G>A
|
rs560195385
|
0.00011
|
|
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)
|
rs368782334
|
0.00010
|
|
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)
|
rs148006741
|
0.00010
|
|
NM_000093.5(COL5A1):c.*1887G>A
|
rs886063693
|
0.00009
|
|
NM_000093.5(COL5A1):c.*2410C>G
|
rs886063694
|
0.00009
|
|
NM_000093.5(COL5A1):c.*608G>A
|
rs537858864
|
0.00009
|
|
NM_000093.5(COL5A1):c.*68C>T
|
rs886063679
|
0.00009
|
|
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
|
rs761837954
|
0.00009
|
|
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)
|
rs138396959
|
0.00009
|
|
NM_000093.5(COL5A1):c.5136+55A>G
|
rs374114460
|
0.00009
|
|
NM_000093.5(COL5A1):c.5370+13C>T
|
rs368524277
|
0.00009
|
|
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln)
|
rs560106611
|
0.00009
|
|
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=)
|
rs367657505
|
0.00009
|
|
NM_000093.5(COL5A1):c.5137-7C>T
|
rs376750863
|
0.00008
|
|
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
0.00008
|
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
|
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)
|
rs373448943
|
0.00007
|
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
|
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)
|
rs147434147
|
0.00007
|
|
NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=)
|
rs144081161
|
0.00007
|
|
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)
|
rs142886387
|
0.00007
|
|
NM_000093.5(COL5A1):c.*2090C>T
|
rs578207933
|
0.00006
|
|
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=)
|
rs144672706
|
0.00006
|
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
|
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)
|
rs777045810
|
0.00006
|
|
NM_000093.5(COL5A1):c.*302C>G
|
rs376087882
|
0.00005
|
|
NM_000093.5(COL5A1):c.*489A>G
|
rs142194317
|
0.00005
|
|
NM_000093.5(COL5A1):c.*8C>T
|
rs375921390
|
0.00005
|
|
NM_000093.5(COL5A1):c.4609-18G>A
|
rs759466196
|
0.00005
|
|
NM_000093.5(COL5A1):c.4645-16T>C
|
rs373762865
|
0.00005
|
|
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=)
|
rs147904867
|
0.00005
|
|
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)
|
rs372971566
|
0.00005
|
|
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)
|
rs542783734
|
0.00005
|
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
|
NM_000093.5(COL5A1):c.*1788G>A
|
rs886063690
|
0.00004
|
|
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)
|
rs537768945
|
0.00004
|
|
NM_000093.5(COL5A1):c.4521C>T (p.Gly1507=)
|
rs552985514
|
0.00004
|
|
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)
|
rs148687561
|
0.00004
|
|
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)
|
rs367711669
|
0.00004
|
|
NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=)
|
rs999637196
|
0.00004
|
|
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)
|
rs369501428
|
0.00004
|
|
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=)
|
rs149981025
|
0.00004
|
|
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)
|
rs199637893
|
0.00004
|
|
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met)
|
rs201771867
|
0.00004
|
|
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=)
|
rs190912679
|
0.00004
|
|
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
|
rs771354369
|
0.00004
|
|
NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=)
|
rs759203958
|
0.00004
|
|
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=)
|
rs747118500
|
0.00004
|
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
|
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp)
|
rs780400029
|
0.00004
|
|
NM_000093.5(COL5A1):c.5361C>T (p.Asp1787=)
|
rs776090002
|
0.00004
|
|
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=)
|
rs765397184
|
0.00004
|
|
NM_000093.5(COL5A1):c.*15G>A
|
rs757066762
|
0.00003
|
|
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu)
|
rs375540141
|
0.00003
|
|
NM_000093.5(COL5A1):c.4719C>T (p.Ile1573=)
|
rs966533667
|
0.00003
|
|
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=)
|
rs183904215
|
0.00003
|
|
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln)
|
rs761802703
|
0.00003
|
|
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=)
|
rs760426595
|
0.00003
|
|
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)
|
rs753433375
|
0.00003
|
|
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg)
|
rs368448060
|
0.00003
|
|
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
|
rs764763703
|
0.00003
|
|
NM_000093.5(COL5A1):c.5136+121C>T
|
rs780650417
|
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.*1787G>A
|
rs886063689
|
0.00002
|
|
NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu)
|
rs773728118
|
0.00002
|
|
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His)
|
rs373653069
|
0.00002
|
|
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu)
|
rs863223459
|
0.00002
|
|
NM_000093.5(COL5A1):c.4608+19C>T
|
rs200797820
|
0.00002
|
|
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)
|
rs863223460
|
0.00002
|
|
NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu)
|
rs780846555
|
0.00002
|
|
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu)
|
rs1297565068
|
0.00002
|
|
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=)
|
rs370009851
|
0.00002
|
|
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val)
|
rs528826181
|
0.00002
|
|
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)
|
rs546865410
|
0.00002
|
|
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)
|
rs863223481
|
0.00002
|
|
NM_000093.5(COL5A1):c.4819G>A (p.Gly1607Ser)
|
rs753525012
|
0.00002
|
|
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)
|
rs772523567
|
0.00002
|
|
NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys)
|
rs747427505
|
0.00002
|
|
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)
|
rs558906147
|
0.00002
|
|
NM_000093.5(COL5A1):c.4940C>T (p.Pro1647Leu)
|
rs140669047
|
0.00002
|
|
NM_000093.5(COL5A1):c.4955-13C>T
|
rs770897242
|
0.00002
|
|
NM_000093.5(COL5A1):c.5029G>A (p.Gly1677Arg)
|
rs768184058
|
0.00002
|
|
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=)
|
rs371875408
|
0.00002
|
|
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
|
rs193275092
|
0.00002
|
|
NM_000093.5(COL5A1):c.5136+132G>A
|
rs1839547284
|
0.00002
|
|
NM_000093.5(COL5A1):c.5193G>A (p.Leu1731=)
|
rs751537287
|
0.00002
|
|
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
|
rs767300218
|
0.00002
|
|
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)
|
rs747231282
|
0.00002
|
|
NM_000093.5(COL5A1):c.5281G>A (p.Asp1761Asn)
|
rs773055539
|
0.00002
|
|
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His)
|
rs150608071
|
0.00002
|
|
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=)
|
rs764817290
|
0.00002
|
|
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser)
|
rs781230603
|
0.00002
|
|
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)
|
rs746104317
|
0.00002
|
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
|
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=)
|
rs200515325
|
0.00002
|
|
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=)
|
rs140744620
|
0.00002
|
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
|
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=)
|
rs768460206
|
0.00002
|
|
NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser)
|
rs773709219
|
0.00002
|
|
NM_000093.5(COL5A1):c.*1260G>A
|
rs557696379
|
0.00001
|
|
NM_000093.5(COL5A1):c.*589G>A
|
rs886063682
|
0.00001
|
|
NM_000093.5(COL5A1):c.*596A>G
|
rs775044518
|
0.00001
|
|
NM_000093.5(COL5A1):c.4471A>T (p.Ile1491Phe)
|
rs863223457
|
0.00001
|
|
NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn)
|
rs1422012959
|
0.00001
|
|
NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys)
|
rs200987038
|
0.00001
|
|
NM_000093.5(COL5A1):c.4518T>C (p.Pro1506=)
|
rs750313963
|
0.00001
|
|
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala)
|
rs1008518818
|
0.00001
|
|
NM_000093.5(COL5A1):c.4554+12G>A
|
rs777162668
|
0.00001
|
|
NM_000093.5(COL5A1):c.4554+3G>A
|
rs370976850
|
0.00001
|
|
NM_000093.5(COL5A1):c.4554+5G>A
|
rs375489070
|
0.00001
|
|
NM_000093.5(COL5A1):c.4555-8C>T
|
rs1393610396
|
0.00001
|
|
NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=)
|
rs770238710
|
0.00001
|
|
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)
|
rs201582108
|
0.00001
|
|
NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=)
|
rs774464652
|
0.00001
|
|
NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala)
|
rs1839028918
|
0.00001
|
|
NM_000093.5(COL5A1):c.4608+3G>T
|
rs1164584886
|
0.00001
|
|
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)
|
rs775335297
|
0.00001
|
|
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=)
|
rs762698462
|
0.00001
|
|
NM_000093.5(COL5A1):c.4644+11T>C
|
rs559588659
|
0.00001
|
|
NM_000093.5(COL5A1):c.4644+16C>T
|
rs376268793
|
0.00001
|
|
NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro)
|
rs376821494
|
0.00001
|
|
NM_000093.5(COL5A1):c.4668G>A (p.Glu1556=)
|
rs1457901052
|
0.00001
|
|
NM_000093.5(COL5A1):c.4678C>G (p.Pro1560Ala)
|
rs371301871
|
0.00001
|
|
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser)
|
rs770278589
|
0.00001
|
|
NM_000093.5(COL5A1):c.4698+20C>T
|
rs1440361056
|
0.00001
|
|
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=)
|
rs775725420
|
0.00001
|
|
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp)
|
rs758378927
|
0.00001
|
|
NM_000093.5(COL5A1):c.4762G>A (p.Asp1588Asn)
|
rs863223480
|
0.00001
|
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
|
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn)
|
rs748610273
|
0.00001
|
|
NM_000093.5(COL5A1):c.4786G>A (p.Gly1596Arg)
|
rs918778766
|
0.00001
|
|
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=)
|
rs886063677
|
0.00001
|
|
NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr)
|
rs1024649360
|
0.00001
|
|
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=)
|
rs755728242
|
0.00001
|
|
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)
|
rs754447923
|
0.00001
|
|
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp)
|
rs763091062
|
0.00001
|
|
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=)
|
rs778483767
|
0.00001
|
|
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)
|
rs730880064
|
0.00001
|
|
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr)
|
rs863223461
|
0.00001
|
|
NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg)
|
rs1273195387
|
0.00001
|
|
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
|
rs746071518
|
0.00001
|
|
NM_000093.5(COL5A1):c.4955G>C (p.Gly1652Ala)
|
rs1206652736
|
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.5125C>T (p.Arg1709Cys)
|
rs375586129
|
0.00001
|
|
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg)
|
rs1339470102
|
0.00001
|
|
NM_000093.5(COL5A1):c.5136+17C>T
|
rs765571792
|
0.00001
|
|
NM_000093.5(COL5A1):c.5137-5C>T
|
rs748416238
|
0.00001
|
|
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr)
|
rs760992656
|
0.00001
|
|
NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp)
|
rs1243519195
|
0.00001
|
|
NM_000093.5(COL5A1):c.5167G>C (p.Val1723Leu)
|
rs1487625448
|
0.00001
|
|
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)
|
rs753339980
|
0.00001
|
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
|
NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile)
|
rs946316218
|
0.00001
|
|
NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg)
|
rs370607849
|
0.00001
|
|
NM_000093.5(COL5A1):c.5234A>T (p.His1745Leu)
|
rs370607849
|
0.00001
|
|
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)
|
rs776748227
|
0.00001
|
|
NM_000093.5(COL5A1):c.5298C>T (p.Phe1766=)
|
rs1231716528
|
0.00001
|
|
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=)
|
rs754379329
|
0.00001
|
|
NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)
|
rs759042440
|
0.00001
|
|
NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His)
|
rs778249693
|
0.00001
|
|
NM_000093.5(COL5A1):c.5358G>T (p.Val1786=)
|
rs766205598
|
0.00001
|
|
NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser)
|
rs759291514
|
0.00001
|
|
NM_000093.5(COL5A1):c.5370+12G>A
|
rs752141684
|
0.00001
|
|
NM_000093.5(COL5A1):c.5372C>A (p.Thr1791Asn)
|
rs1258210858
|
0.00001
|
|
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)
|
rs761036527
|
0.00001
|
|
NM_000093.5(COL5A1):c.5421G>A (p.Val1807=)
|
rs1245708449
|
0.00001
|
|
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)
|
rs1830127790
|
0.00001
|
|
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=)
|
rs886063678
|
0.00001
|
|
NM_000093.5(COL5A1):c.5447T>C (p.Met1816Thr)
|
rs780047867
|
0.00001
|
|
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=)
|
rs748940142
|
0.00001
|
|
NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp)
|
rs1251114548
|
0.00001
|
|
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser)
|
rs863223482
|
0.00001
|
|
NM_000093.5(COL5A1):c.5492T>C (p.Val1831Ala)
|
rs532411382
|
0.00001
|
|
NM_000093.5(COL5A1):c.5497C>T (p.Pro1833Ser)
|
rs370789226
|
0.00001
|
|
NC_000009.11:g.(?_137721802)_(137734169_?)dup
|
|
|
|
NC_000009.12:g.(?_134834951)_(134835224_?)del
|
|
|
|
NC_000009.12:g.(?_134842137)_(134842323_?)del
|
|
|
|
NC_000009.12:g.134824601del
|
rs1588597744
|
|
|
NM_000093.4(COL5A1):c.4646dupG
|
rs2132879262
|
|
|
NM_000093.5(COL5A1):c.*1047_*1049dup
|
rs886063686
|
|
|
NM_000093.5(COL5A1):c.*1086ATCT[1]
|
rs16399
|
|
|
NM_000093.5(COL5A1):c.*1653dup
|
rs541530510
|
|
|
NM_000093.5(COL5A1):c.*173C>T
|
rs886063680
|
|
|
NM_000093.5(COL5A1):c.*1786C>G
|
|
|
|
NM_000093.5(COL5A1):c.*1807G>C
|
rs374715103
|
|
|
NM_000093.5(COL5A1):c.*1849ACAA[3]
|
rs886063691
|
|
|
NM_000093.5(COL5A1):c.*2252T>C
|
rs529530286
|
|
|
NM_000093.5(COL5A1):c.*235C>T
|
rs886063681
|
|
|
NM_000093.5(COL5A1):c.*6G>A
|
|
|
|
NM_000093.5(COL5A1):c.*700G>C
|
rs750272409
|
|
|
NM_000093.5(COL5A1):c.*727dup
|
rs1554727609
|
|
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
|
NM_000093.5(COL5A1):c.*865dup
|
rs57599653
|
|
|
NM_000093.5(COL5A1):c.*866_*867insTAG
|
rs886063684
|
|
|
NM_000093.5(COL5A1):c.*867_*868insATAGG
|
rs1554727637
|
|
|
NM_000093.5(COL5A1):c.*870_*873dup
|
rs10628678
|
|
|
NM_000093.5(COL5A1):c.*948C>G
|
rs142032213
|
|
|
NM_000093.5(COL5A1):c.*9G>A
|
|
|
|
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.4447-18G>C
|
|
|
|
NM_000093.5(COL5A1):c.4447-19T>C
|
rs1554806958
|
|
|
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys)
|
rs1554806963
|
|
|
NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.4456G>A (p.Gly1486Ser)
|
rs1554806972
|
|
|
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)
|
rs148669237
|
|
|
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=)
|
rs148669237
|
|
|
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)
|
rs1838935159
|
|
|
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu)
|
rs121912932
|
|
|
NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=)
|
rs878853653
|
|
|
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser)
|
rs863223458
|
|
|
NM_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys)
|
rs863223458
|
|
|
NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del)
|
rs1838936100
|
|
|
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser)
|
rs1462918582
|
|
|
NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
|
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)
|
rs2228560
|
|
|
NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)
|
|
|
|
NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly)
|
rs1588589560
|
|
|
NM_000093.5(COL5A1):c.4494_4502dup (p.Glu1499_Gly1501dup)
|
rs1554807011
|
|
|
NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys)
|
rs1060502261
|
|
|
NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=)
|
|
|
|
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
|
|
|
|
NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=)
|
|
|
|
NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)
|
|
|
|
NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=)
|
rs764114280
|
|
|
NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser)
|
rs148687561
|
|
|
NM_000093.5(COL5A1):c.4523C>G (p.Pro1508Arg)
|
|
|
|
NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)
|
|
|
|
NM_000093.5(COL5A1):c.4530C>A (p.Gly1510=)
|
|
|
|
NM_000093.5(COL5A1):c.4530C>G (p.Gly1510=)
|
|
|
|
NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser)
|
rs1489565447
|
|
|
NM_000093.5(COL5A1):c.4541C>A (p.Pro1514His)
|
rs2132869183
|
|
|
NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs)
|
rs1588589663
|
|
|
NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)
|
|
|
|
NM_000093.5(COL5A1):c.4554+16C>A
|
|
|
|
NM_000093.5(COL5A1):c.4554+16C>T
|
|
|
|
NM_000093.5(COL5A1):c.4554+1G>C
|
rs1564482508
|
|
|
NM_000093.5(COL5A1):c.4554+20T>C
|
|
|
|
NM_000093.5(COL5A1):c.4554+20T>G
|
|
|
|
NM_000093.5(COL5A1):c.4554+258C>G
|
rs4841935
|
|
|
NM_000093.5(COL5A1):c.4554+4C>T
|
|
|
|
NM_000093.5(COL5A1):c.4554+6T>C
|
|
|
|
NM_000093.5(COL5A1):c.4555-11G>T
|
rs2132874427
|
|
|
NM_000093.5(COL5A1):c.4555-15T>A
|
rs1057522149
|
|
|
NM_000093.5(COL5A1):c.4555-17T>A
|
|
|
|
NM_000093.5(COL5A1):c.4555-6T>C
|
rs1588592849
|
|
|
NM_000093.5(COL5A1):c.4555-6T>G
|
rs1588592849
|
|
|
NM_000093.5(COL5A1):c.4555-8C>G
|
rs1393610396
|
|
|
NM_000093.5(COL5A1):c.4561_4569del (p.Thr1521_Pro1523del)
|
rs863223484
|
|
|
NM_000093.5(COL5A1):c.4564G>T (p.Gly1522Cys)
|
|
|
|
NM_000093.5(COL5A1):c.4566_4574del (p.Ser1524_Pro1526del)
|
|
|
|
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)
|
rs1378626783
|
|
|
NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)
|
|
|
|
NM_000093.5(COL5A1):c.4573G>A (p.Gly1525Ser)
|
rs1564484053
|
|
|
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)
|
rs770238710
|
|
|
NM_000093.5(COL5A1):c.4584G>A (p.Gly1528=)
|
|
|
|
NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)
|
|
|
|
NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser)
|
rs1839028504
|
|
|
NM_000093.5(COL5A1):c.4598C>T (p.Pro1533Leu)
|
rs1564484099
|
|
|
NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)
|
|
|
|
NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)
|
|
|
|
NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs)
|
rs2132874649
|
|
|
NM_000093.5(COL5A1):c.4608+14A>C
|
|
|
|
NM_000093.5(COL5A1):c.4608+18G>A
|
|
|
|
NM_000093.5(COL5A1):c.4608+18G>C
|
|
|
|
NM_000093.5(COL5A1):c.4608+19C>G
|
|
|
|
NM_000093.5(COL5A1):c.4608+19del
|
|
|
|
NM_000093.5(COL5A1):c.4608+4T>G
|
|
|
|
NM_000093.5(COL5A1):c.4608+7A>G
|
rs1554807494
|
|
|
NM_000093.5(COL5A1):c.4608+7A>T
|
rs1554807494
|
|
|
NM_000093.5(COL5A1):c.4608+8T>C
|
|
|
|
NM_000093.5(COL5A1):c.4609-12CT[3]
|
|
|
|
NM_000093.5(COL5A1):c.4609-15C>T
|
rs769679819
|
|
|
NM_000093.5(COL5A1):c.4609-272C>A
|
rs113171199
|
|
|
NM_000093.5(COL5A1):c.4609-279_4609-278insCC
|
rs370666409
|
|
|
NM_000093.5(COL5A1):c.4609-279_4609-278insCCC
|
rs370666409
|
|
|
NM_000093.5(COL5A1):c.4609-279dup
|
rs370666409
|
|
|
NM_000093.5(COL5A1):c.4609-3C>T
|
|
|
|
NM_000093.5(COL5A1):c.4609-6C>T
|
rs1034866420
|
|
|
NM_000093.5(COL5A1):c.4609-77G>C
|
rs7036997
|
|
|
NM_000093.5(COL5A1):c.4609G>C (p.Gly1537Arg)
|
rs2132877751
|
|
|
NM_000093.5(COL5A1):c.4612C>A (p.Pro1538Thr)
|
rs1554807720
|
|
|
NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=)
|
rs1588594834
|
|
|
NM_000093.5(COL5A1):c.4619G>T (p.Gly1540Val)
|
rs1564485256
|
|
|
NM_000093.5(COL5A1):c.4623A>C (p.Pro1541=)
|
|
|
|
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)
|
rs1839084095
|
|
|
NM_000093.5(COL5A1):c.4638del (p.Ser1547fs)
|
rs1839084305
|
|
|
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)
|
|
|
|
NM_000093.5(COL5A1):c.4642T>A (p.Ser1548Thr)
|
rs1839084618
|
|
|
NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)
|
|
|
|
NM_000093.5(COL5A1):c.4644+10A>C
|
|
|
|
NM_000093.5(COL5A1):c.4644+10A>G
|
rs373032507
|
|
|
NM_000093.5(COL5A1):c.4644+20G>C
|
|
|
|
NM_000093.5(COL5A1):c.4644+40G>C
|
rs200471891
|
|
|
NM_000093.5(COL5A1):c.4644+4A>G
|
rs1478447420
|
|
|
NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)
|
|
|
|
NM_000093.5(COL5A1):c.4645-10_4645-7del
|
rs2132879221
|
|
|
NM_000093.5(COL5A1):c.4645-12C>A
|
|
|
|
NM_000093.5(COL5A1):c.4645-13T>G
|
rs1172969421
|
|
|
NM_000093.5(COL5A1):c.4645-17C>A
|
|
|
|
NM_000093.5(COL5A1):c.4645-21_4645-18del
|
|
|
|
NM_000093.5(COL5A1):c.4645-4C>G
|
rs747264682
|
|
|
NM_000093.5(COL5A1):c.4645-4C>T
|
|
|
|
NM_000093.5(COL5A1):c.4645-5C>T
|
rs1308872784
|
|
|
NM_000093.5(COL5A1):c.4649C>T (p.Pro1550Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4650A>G (p.Pro1550=)
|
|
|
|
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)
|
rs778312075
|
|
|
NM_000093.5(COL5A1):c.4651A>G (p.Thr1551Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser)
|
rs863223460
|
|
|
NM_000093.5(COL5A1):c.4653T>C (p.Thr1551=)
|
|
|
|
NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)
|
|
|
|
NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser)
|
rs1554807811
|
|
|
NM_000093.5(COL5A1):c.4656C>T (p.Gly1552=)
|
|
|
|
NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs)
|
rs1554807812
|
|
|
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser)
|
rs1172057382
|
|
|
NM_000093.5(COL5A1):c.4669G>A (p.Ala1557Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4673dup (p.His1559fs)
|
|
|
|
NM_000093.5(COL5A1):c.4677C>T (p.His1559=)
|
|
|
|
NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)
|
|
|
|
NM_000093.5(COL5A1):c.4684C>A (p.Pro1562Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4685C>G (p.Pro1562Arg)
|
rs772020996
|
|
|
NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)
|
|
|
|
NM_000093.5(COL5A1):c.4686C>G (p.Pro1562=)
|
|
|
|
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
|
|
|
|
NM_000093.5(COL5A1):c.4688del (p.Pro1563fs)
|
|
|
|
NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=)
|
|
|
|
NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=)
|
rs61735501
|
|
|
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=)
|
rs61735501
|
|
|
NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)
|
|
|
|
NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4695C>G (p.Pro1565=)
|
rs752029679
|
|
|
NM_000093.5(COL5A1):c.4696C>A (p.Pro1566Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4697C>A (p.Pro1566Gln)
|
rs375540141
|
|
|
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)
|
rs1131691996
|
|
|
NM_000093.5(COL5A1):c.4698+16A>G
|
rs1232246029
|
|
|
NM_000093.5(COL5A1):c.4698+6T>G
|
|
|
|
NM_000093.5(COL5A1):c.4698+6dup
|
|
|
|
NM_000093.5(COL5A1):c.4698+9C>A
|
|
|
|
NM_000093.5(COL5A1):c.4698+9C>T
|
rs753030199
|
|
|
NM_000093.5(COL5A1):c.4699-14G>A
|
|
|
|
NM_000093.5(COL5A1):c.4699-15T>C
|
|
|
|
NM_000093.5(COL5A1):c.4699-19C>T
|
|
|
|
NM_000093.5(COL5A1):c.4699-3C>G
|
rs746861627
|
|
|
NM_000093.5(COL5A1):c.4699-3del
|
rs1554808051
|
|
|
NM_000093.5(COL5A1):c.4701C>T (p.Gly1567=)
|
|
|
|
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)
|
|
|
|
NM_000093.5(COL5A1):c.4711G>C (p.Glu1571Gln)
|
|
|
|
NM_000093.5(COL5A1):c.4713G>A (p.Glu1571=)
|
|
|
|
NM_000093.5(COL5A1):c.4713G>C (p.Glu1571Asp)
|
|
|
|
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile)
|
rs543014323
|
|
|
NM_000093.5(COL5A1):c.4714del (p.Val1572fs)
|
rs2132883536
|
|
|
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
|
|
|
|
NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)
|
|
|
|
NM_000093.5(COL5A1):c.4738del (p.Ala1580fs)
|
|
|
|
NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)
|
|
|
|
NM_000093.5(COL5A1):c.4746G>A (p.Arg1582=)
|
|
|
|
NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro)
|
|
|
|
NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly)
|
|
|
|
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln)
|
rs531431738
|
|
|
NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu)
|
rs531431738
|
|
|
NM_000093.5(COL5A1):c.4755G>A (p.Arg1585=)
|
|
|
|
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=)
|
rs139332528
|
|
|
NM_000093.5(COL5A1):c.4758del (p.Asn1586fs)
|
|
|
|
NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)
|
|
|
|
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=)
|
rs1318402758
|
|
|
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)
|
rs149212775
|
|
|
NM_000093.5(COL5A1):c.4796A>T (p.Glu1599Val)
|
|
|
|
NM_000093.5(COL5A1):c.4797G>C (p.Glu1599Asp)
|
rs2132883972
|
|
|
NM_000093.5(COL5A1):c.4798A>G (p.Asn1600Asp)
|
|
|
|
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)
|
rs1839191116
|
|
|
NM_000093.5(COL5A1):c.4805_4813del (p.Val1602_Tyr1604del)
|
rs752240390
|
|
|
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup)
|
rs752240390
|
|
|
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
|
rs145175057
|
|
|
NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)
|
|
|
|
NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=)
|
|
|
|
NM_000093.5(COL5A1):c.4822A>T (p.Met1608Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4823T>C (p.Met1608Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4824G>A (p.Met1608Ile)
|
|
|
|
NM_000093.5(COL5A1):c.4830G>C (p.Glu1610Asp)
|
|
|
|
NM_000093.5(COL5A1):c.4830_4831dup (p.Ile1611fs)
|
|
|
|
NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)
|
|
|
|
NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs)
|
rs2132884146
|
|
|
NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4844_4845del (p.Leu1615fs)
|
rs1554808136
|
|
|
NM_000093.5(COL5A1):c.4847A>G (p.Asn1616Ser)
|
|
|
|
NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4856A>G (p.Lys1619Arg)
|
|
|
|
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp)
|
rs1064794238
|
|
|
NM_000093.5(COL5A1):c.4864A>C (p.Ile1622Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr)
|
|
|
|
NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=)
|
rs2132884435
|
|
|
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=)
|
rs1588598230
|
|
|
NM_000093.5(COL5A1):c.4892C>A (p.Thr1631Lys)
|
rs764446683
|
|
|
NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg)
|
rs764446683
|
|
|
NM_000093.5(COL5A1):c.4893G>A (p.Thr1631=)
|
|
|
|
NM_000093.5(COL5A1):c.4897C>G (p.Gln1633Glu)
|
rs1588598244
|
|
|
NM_000093.5(COL5A1):c.4909del (p.Arg1637fs)
|
rs1564487306
|
|
|
NM_000093.5(COL5A1):c.4910G>T (p.Arg1637Leu)
|
|
|
|
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)
|
rs80338764
|
|
|
NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)
|
|
|
|
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=)
|
rs2132884637
|
|
|
NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter)
|
rs1219304070
|
|
|
NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr)
|
rs2132884669
|
|
|
NM_000093.5(COL5A1):c.4938C>T (p.His1646=)
|
|
|
|
NM_000093.5(COL5A1):c.4939C>G (p.Pro1647Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4944C>A (p.Asp1648Glu)
|
|
|
|
NM_000093.5(COL5A1):c.4954+11G>C
|
rs957818279
|
|
|
NM_000093.5(COL5A1):c.4954+11G>T
|
|
|
|
NM_000093.5(COL5A1):c.4954+15G>T
|
rs2132884821
|
|
|
NM_000093.5(COL5A1):c.4954+17del
|
|
|
|
NM_000093.5(COL5A1):c.4954+17dup
|
rs757067716
|
|
|
NM_000093.5(COL5A1):c.4954+4A>G
|
rs1564487377
|
|
|
NM_000093.5(COL5A1):c.4954+6G>C
|
rs1031138847
|
|
|
NM_000093.5(COL5A1):c.4955-139C>G
|
rs7855787
|
|
|
NM_000093.5(COL5A1):c.4955-15G>A
|
|
|
|
NM_000093.5(COL5A1):c.4955-1G>C
|
|
|
|
NM_000093.5(COL5A1):c.4955-20T>G
|
|
|
|
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp)
|
rs1206652736
|
|
|
NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)
|
|
|
|
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=)
|
rs998985081
|
|
|
NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)
|
|
|
|
NM_000093.5(COL5A1):c.4968C>G (p.Val1656=)
|
rs201871481
|
|
|
NM_000093.5(COL5A1):c.4969G>A (p.Asp1657Asn)
|
rs892181156
|
|
|
NM_000093.5(COL5A1):c.4969G>T (p.Asp1657Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)
|
|
|
|
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu)
|
rs1839242243
|
|
|
NM_000093.5(COL5A1):c.4984T>C (p.Cys1662Arg)
|
rs2132887638
|
|
|
NM_000093.5(COL5A1):c.4987T>G (p.Ser1663Ala)
|
|
|
|
NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly)
|
rs1588599794
|
|
|
NM_000093.5(COL5A1):c.4994A>T (p.Asp1665Val)
|
|
|
|
NM_000093.5(COL5A1):c.4998C>T (p.Ser1666=)
|
|
|
|
NM_000093.5(COL5A1):c.5000T>C (p.Phe1667Ser)
|
rs2132887689
|
|
|
NM_000093.5(COL5A1):c.5001C>T (p.Phe1667=)
|
rs886038236
|
|
|
NM_000093.5(COL5A1):c.5009_5011dup (p.Tyr1670_Cys1671insTyr)
|
|
|
|
NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr)
|
rs1554808357
|
|
|
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe)
|
rs1554808357
|
|
|
NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=)
|
rs560774273
|
|
|
NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=)
|
rs560774273
|
|
|
NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg)
|
rs368448060
|
|
|
NM_000093.5(COL5A1):c.5026G>T (p.Gly1676Trp)
|
rs368448060
|
|
|
NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=)
|
|
|
|
NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)
|
|
|
|
NM_000093.5(COL5A1):c.5031del (p.Ser1678fs)
|
rs2132887747
|
|
|
NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs)
|
rs2132887747
|
|
|
NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs)
|
rs2132887783
|
|
|
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys)
|
rs1554808365
|
|
|
NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe)
|
rs1588599870
|
|
|
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
|
|
|
|
NM_000093.5(COL5A1):c.5049T>C (p.Pro1683=)
|
|
|
|
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
|
|
|
|
NM_000093.5(COL5A1):c.5052C>T (p.Asp1684=)
|
|
|
|
NM_000093.5(COL5A1):c.5053AAG[1] (p.Lys1686del)
|
|
|
|
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
|
|
|
|
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
|
|
|
|
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)
|
|
|
|
NM_000093.5(COL5A1):c.5062G>C (p.Glu1688Gln)
|
|
|
|
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg)
|
rs1839245619
|
|
|
NM_000093.5(COL5A1):c.5066G>T (p.Gly1689Val)
|
|
|
|
NM_000093.5(COL5A1):c.5067+18T>C
|
|
|
|
NM_000093.5(COL5A1):c.5067+1G>A
|
rs1839245948
|
|
|
NM_000093.5(COL5A1):c.5067+4A>G
|
rs2132887922
|
|
|
NM_000093.5(COL5A1):c.5067+5G>A
|
|
|
|
NM_000093.5(COL5A1):c.5068-116del
|
rs57187666
|
|
|
NM_000093.5(COL5A1):c.5068-141C>A
|
rs112040689
|
|
|
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.5071A>G (p.Arg1691Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe)
|
rs1564183635
|
|
|
NM_000093.5(COL5A1):c.5083T>C (p.Trp1695Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)
|
|
|
|
NM_000093.5(COL5A1):c.5085G>T (p.Trp1695Cys)
|
|
|
|
NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5100G>T (p.Pro1700=)
|
rs371875408
|
|
|
NM_000093.5(COL5A1):c.5105C>T (p.Ser1702Phe)
|
|
|
|
NM_000093.5(COL5A1):c.5110T>C (p.Phe1704Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5112C>T (p.Phe1704=)
|
|
|
|
NM_000093.5(COL5A1):c.5126G>T (p.Arg1709Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=)
|
rs2132907681
|
|
|
NM_000093.5(COL5A1):c.5136+102C>G
|
|
|
|
NM_000093.5(COL5A1):c.5136+105G>A
|
|
|
|
NM_000093.5(COL5A1):c.5136+114G>C
|
|
|
|
NM_000093.5(COL5A1):c.5136+117C>T
|
|
|
|
NM_000093.5(COL5A1):c.5136+120G>A
|
|
|
|
NM_000093.5(COL5A1):c.5136+122G>A
|
|
|
|
NM_000093.5(COL5A1):c.5136+126del
|
|
|
|
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+373G>A
|
rs10123667
|
|
|
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT
|
rs1839542247
|
|
|
NM_000093.5(COL5A1):c.5136+72G>A
|
|
|
|
NM_000093.5(COL5A1):c.5136+77G>A
|
rs377732839
|
|
|
NM_000093.5(COL5A1):c.5136+77G>T
|
|
|
|
NM_000093.5(COL5A1):c.5136+8G>C
|
rs770378717
|
|
|
NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=)
|
|
|
|
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC
|
rs1839537297
|
|
|
NM_000093.5(COL5A1):c.5137-11T>A
|
rs183495554
|
|
|
NM_000093.5(COL5A1):c.5137-12_5137-11del
|
|
|
|
NM_000093.5(COL5A1):c.5137-15C>A
|
|
|
|
NM_000093.5(COL5A1):c.5137-18A>G
|
|
|
|
NM_000093.5(COL5A1):c.5137-20C>T
|
rs1554726232
|
|
|
NM_000093.5(COL5A1):c.5137-7C>G
|
rs376750863
|
|
|
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
|
|
|
|
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del)
|
rs1060502250
|
|
|
NM_000093.5(COL5A1):c.5145T>C (p.Tyr1715=)
|
|
|
|
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=)
|
rs772597610
|
|
|
NM_000093.5(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del)
|
rs1554726245
|
|
|
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=)
|
rs147434147
|
|
|
NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)
|
|
|
|
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter)
|
rs776640704
|
|
|
NM_000093.5(COL5A1):c.5159G>T (p.Gly1720Val)
|
rs1243519195
|
|
|
NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser)
|
rs1482037877
|
|
|
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr)
|
rs1839797107
|
|
|
NM_000093.5(COL5A1):c.5165dup (p.Val1723fs)
|
rs1554726251
|
|
|
NM_000093.5(COL5A1):c.5167G>A (p.Val1723Met)
|
|
|
|
NM_000093.5(COL5A1):c.5168T>C (p.Val1723Ala)
|
|
|
|
NM_000093.5(COL5A1):c.5171G>C (p.Gly1724Ala)
|
|
|
|
NM_000093.5(COL5A1):c.5173G>A (p.Val1725Met)
|
rs972629744
|
|
|
NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer)
|
rs2132925550
|
|
|
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
|
rs201379514
|
|
|
NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=)
|
rs1839798652
|
|
|
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=)
|
|
|
|
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
|
rs1588615451
|
|
|
NM_000093.5(COL5A1):c.5217C>T (p.His1739=)
|
rs869025374
|
|
|
NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter)
|
rs2132925640
|
|
|
NM_000093.5(COL5A1):c.5226C>T (p.Val1742=)
|
rs1355725982
|
|
|
NM_000093.5(COL5A1):c.5227_5235del (p.Thr1743_His1745del)
|
rs1064796096
|
|
|
NM_000093.5(COL5A1):c.5228C>G (p.Thr1743Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs)
|
rs2132925682
|
|
|
NM_000093.5(COL5A1):c.5236T>A (p.Cys1746Ser)
|
|
|
|
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
|
|
|
|
NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)
|
|
|
|
NM_000093.5(COL5A1):c.5243A>G (p.Gln1748Arg)
|
rs2132925725
|
|
|
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
|
|
|
|
NM_000093.5(COL5A1):c.5260G>A (p.Asp1754Asn)
|
|
|
|
NM_000093.5(COL5A1):c.5264C>T (p.Ala1755Val)
|
|
|
|
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr)
|
rs769947722
|
|
|
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly)
|
rs1839802608
|
|
|
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
|
|
|
|
NM_000093.5(COL5A1):c.5280del (p.Ser1759_Tyr1760insTer)
|
|
|
|
NM_000093.5(COL5A1):c.5288C>T (p.Ala1763Val)
|
|
|
|
NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His)
|
rs2132925845
|
|
|
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs)
|
rs1839803841
|
|
|
NM_000093.5(COL5A1):c.5294dup (p.Phe1766fs)
|
|
|
|
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=)
|
rs1564187943
|
|
|
NM_000093.5(COL5A1):c.5297_5305del (p.Phe1766_Gly1768del)
|
rs2132925907
|
|
|
NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=)
|
|
|
|
NM_000093.5(COL5A1):c.5299del (p.Leu1767fs)
|
rs1554726279
|
|
|
NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp)
|
rs1588615582
|
|
|
NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro)
|
|
|
|
NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)
|
|
|
|
NM_000093.5(COL5A1):c.5308A>G (p.Asn1770Asp)
|
rs2132926010
|
|
|
NM_000093.5(COL5A1):c.5310C>G (p.Asn1770Lys)
|
rs764817290
|
|
|
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)
|
|
|
|
NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=)
|
rs753245063
|
|
|
NM_000093.5(COL5A1):c.5317del (p.Glu1773fs)
|
rs1554726283
|
|
|
NM_000093.5(COL5A1):c.5318A>G (p.Glu1773Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)
|
|
|
|
NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)
|
|
|
|
NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr)
|
rs1554726285
|
|
|
NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=)
|
rs1375535475
|
|
|
NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn)
|
rs863223462
|
|
|
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs)
|
rs1588615658
|
|
|
NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs)
|
rs2132926166
|
|
|
NM_000093.5(COL5A1):c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn)
|
rs2132926191
|
|
|
NM_000093.5(COL5A1):c.5345T>A (p.Ile1782Asn)
|
rs1403819684
|
|
|
NM_000093.5(COL5A1):c.5348G>C (p.Arg1783Pro)
|
|
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
|
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser)
|
rs143859495
|
|
|
NM_000093.5(COL5A1):c.5351C>A (p.Ala1784Asp)
|
|
|
|
NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro)
|
|
|
|
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)
|
rs863223475
|
|
|
NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)
|
|
|
|
NM_000093.5(COL5A1):c.5360A>G (p.Asp1787Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5365T>C (p.Cys1789Arg)
|
rs2132926308
|
|
|
NM_000093.5(COL5A1):c.5370+15C>T
|
|
|
|
NM_000093.5(COL5A1):c.5370+16C>T
|
|
|
|
NM_000093.5(COL5A1):c.5370+17G>A
|
|
|
|
NM_000093.5(COL5A1):c.5370+18C>T
|
rs370535777
|
|
|
NM_000093.5(COL5A1):c.5370+19G>A
|
|
|
|
NM_000093.5(COL5A1):c.5370+3_5370+6del
|
rs786200923
|
|
|
NM_000093.5(COL5A1):c.5370+3_5370+8delinsC
|
rs1064794972
|
|
|
NM_000093.5(COL5A1):c.5371-10T>A
|
|
|
|
NM_000093.5(COL5A1):c.5371-11_*33delinsATGAAGCAAGC
|
|
|
|
NM_000093.5(COL5A1):c.5371-12C>T
|
rs769740900
|
|
|
NM_000093.5(COL5A1):c.5371-14T>C
|
|
|
|
NM_000093.5(COL5A1):c.5371-15C>A
|
|
|
|
NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC
|
|
|
|
NM_000093.5(COL5A1):c.5371-19C>T
|
rs1554727355
|
|
|
NM_000093.5(COL5A1):c.5371-4C>T
|
|
|
|
NM_000093.5(COL5A1):c.5371-5C>T
|
|
|
|
NM_000093.5(COL5A1):c.5371-6C>A
|
|
|
|
NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs)
|
rs1830124408
|
|
|
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)
|
rs1588621711
|
|
|
NM_000093.5(COL5A1):c.5390A>G (p.Lys1797Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5391G>C (p.Lys1797Asn)
|
rs2132942992
|
|
|
NM_000093.5(COL5A1):c.5395G>A (p.Val1799Ile)
|
rs863223463
|
|
|
NM_000093.5(COL5A1):c.5399T>C (p.Leu1800Pro)
|
|
|
|
NM_000093.5(COL5A1):c.5411C>A (p.Thr1804Asn)
|
rs755260686
|
|
|
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser)
|
rs755260686
|
|
|
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser)
|
rs554332661
|
|
|
NM_000093.5(COL5A1):c.5414C>A (p.Pro1805His)
|
rs377563294
|
|
|
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg)
|
rs377563294
|
|
|
NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=)
|
rs1002314921
|
|
|
NM_000093.5(COL5A1):c.5415del (p.Val1807fs)
|
rs2132943031
|
|
|
NM_000093.5(COL5A1):c.5415dup (p.Lys1806fs)
|
|
|
|
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu)
|
rs1830127605
|
|
|
NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)
|
|
|
|
NM_000093.5(COL5A1):c.5419G>A (p.Val1807Met)
|
|
|
|
NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu)
|
rs1588621758
|
|
|
NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter)
|
rs2132943056
|
|
|
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)
|
|
|
|
NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)
|
|
|
|
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu)
|
rs1554727362
|
|
|
NM_000093.5(COL5A1):c.5434A>G (p.Ile1812Val)
|
|
|
|
NM_000093.5(COL5A1):c.5457C>T (p.Asp1819=)
|
|
|
|
NM_000093.5(COL5A1):c.5458_5459del (p.Phe1820fs)
|
rs1564191682
|
|
|
NM_000093.5(COL5A1):c.5464G>A (p.Glu1822Lys)
|
|
|
|
NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)
|
|
|
|
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val)
|
rs747656987
|
|
|
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=)
|
rs367657505
|
|
|
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)
|
rs1057518004
|
|
|
NM_000093.5(COL5A1):c.5476A>C (p.Lys1826Gln)
|
|
|
|
NM_000093.5(COL5A1):c.5485T>G (p.Phe1829Val)
|
|
|
|
NM_000093.5(COL5A1):c.5486T>G (p.Phe1829Cys)
|
rs863223483
|
|
|
NM_000093.5(COL5A1):c.5491G>A (p.Val1831Met)
|
|
|
|
NM_000093.5(COL5A1):c.5494G>C (p.Gly1832Arg)
|
|
|
|
NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu)
|
rs1554727410
|
|
|
NM_000093.5(COL5A1):c.5495G>C (p.Gly1832Ala)
|
|
|
|
NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs)
|
rs1564191704
|
|
|
NM_000093.5(COL5A1):c.5502T>C (p.Ala1834=)
|
|
|
|
NM_000093.5(COL5A1):c.5502_5503delinsCG (p.Cys1835Gly)
|
|
|
|
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser)
|
rs1060502246
|
|
|
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr)
|
|
|
|
NM_000093.5(COL5A1):c.5512G>A (p.Gly1838Ser)
|
rs1830130130
|
|
|
NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp)
|
|
|
|
NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=)
|
rs1060504530
|
|