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.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.5137-142C>T
|
rs76439190
|
0.02791
|
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.4609-107G>A
|
rs73664153
|
0.02347
|
NM_000093.5(COL5A1):c.*1922G>A
|
rs74979726
|
0.02332
|
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.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.5068-7T>C
|
rs113256540
|
0.01472
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
NM_000093.5(COL5A1):c.4699-6C>T
|
rs113090154
|
0.00923
|
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.5136+40A>G
|
rs183298179
|
0.00678
|
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.5137-11T>C
|
rs183495554
|
0.00512
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
NM_000093.5(COL5A1):c.4955-48G>A
|
rs60879388
|
0.00480
|
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.*58C>T
|
rs56259444
|
0.00207
|
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=)
|
rs138436047
|
0.00116
|
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.*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.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.5370+14G>A
|
rs201082330
|
0.00016
|
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.4941C>T (p.Pro1647=)
|
rs747549921
|
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.*608G>A
|
rs537858864
|
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.5389A>C (p.Lys1797Gln)
|
rs560106611
|
0.00009
|
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=)
|
rs367657505
|
0.00009
|
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
0.00008
|
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.5271G>A (p.Thr1757=)
|
rs142886387
|
0.00007
|
NM_000093.5(COL5A1):c.*2090C>T
|
rs578207933
|
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.4698G>A (p.Pro1566=)
|
rs147904867
|
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.4473C>T (p.Ile1491=)
|
rs537768945
|
0.00004
|
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)
|
rs148687561
|
0.00004
|
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)
|
rs369501428
|
0.00004
|
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)
|
rs199637893
|
0.00004
|
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
|
rs771354369
|
0.00004
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu)
|
rs375540141
|
0.00003
|
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln)
|
rs761802703
|
0.00003
|
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)
|
rs753433375
|
0.00003
|
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
|
rs764763703
|
0.00003
|
NM_000093.5(COL5A1):c.5371-15C>T
|
rs369764872
|
0.00003
|
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu)
|
rs863223459
|
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.4837G>A (p.Gly1613Ser)
|
rs772523567
|
0.00002
|
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)
|
rs558906147
|
0.00002
|
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
|
rs193275092
|
0.00002
|
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
|
rs767300218
|
0.00002
|
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His)
|
rs150608071
|
0.00002
|
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser)
|
rs781230603
|
0.00002
|
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=)
|
rs200515325
|
0.00002
|
NM_000093.5(COL5A1):c.*1260G>A
|
rs557696379
|
0.00001
|
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)
|
rs201582108
|
0.00001
|
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)
|
rs775335297
|
0.00001
|
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser)
|
rs770278589
|
0.00001
|
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp)
|
rs758378927
|
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.4911C>T (p.Arg1637=)
|
rs778483767
|
0.00001
|
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)
|
rs730880064
|
0.00001
|
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
|
rs746071518
|
0.00001
|
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys)
|
rs375586129
|
0.00001
|
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr)
|
rs760992656
|
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.5263G>A (p.Ala1755Thr)
|
rs776748227
|
0.00001
|
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=)
|
rs754379329
|
0.00001
|
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)
|
rs761036527
|
0.00001
|
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser)
|
rs863223482
|
0.00001
|
NM_000093.5(COL5A1):c.*1086ATCT[1]
|
rs16399
|
|
NM_000093.5(COL5A1):c.*1807G>C
|
rs374715103
|
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
NM_000093.5(COL5A1):c.*870_*873dup
|
rs10628678
|
|
NM_000093.5(COL5A1):c.*948C>G
|
rs142032213
|
|
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.4523C>T (p.Pro1508Leu)
|
|
|
NM_000093.5(COL5A1):c.4554+258C>G
|
rs4841935
|
|
NM_000093.5(COL5A1):c.4609-279_4609-278insCC
|
rs370666409
|
|
NM_000093.5(COL5A1):c.4609-279dup
|
rs370666409
|
|
NM_000093.5(COL5A1):c.4609-77G>C
|
rs7036997
|
|
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)
|
|
|
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=)
|
rs61735501
|
|
NM_000093.5(COL5A1):c.4699-3del
|
rs1554808051
|
|
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)
|
|
|
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile)
|
rs543014323
|
|
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln)
|
rs531431738
|
|
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)
|
rs149212775
|
|
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
|
rs145175057
|
|
NM_000093.5(COL5A1):c.4954+17dup
|
rs757067716
|
|
NM_000093.5(COL5A1):c.4955-139C>G
|
rs7855787
|
|
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)
|
|
|
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu)
|
|
|
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
|
|
|
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
|
|
|
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg)
|
|
|
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)
|
|
|
NM_000093.5(COL5A1):c.5068-116del
|
rs57187666
|
|
NM_000093.5(COL5A1):c.5136+373G>A
|
rs10123667
|
|
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=)
|
rs772597610
|
|
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
|
rs201379514
|
|
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=)
|
|
|
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
|
|
|
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr)
|
rs769947722
|
|
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
|
|
|
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)
|
|
|
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.5354T>C (p.Leu1785Pro)
|
|
|
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg)
|
rs377563294
|
|
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)
|
|
|
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val)
|
rs747656987
|
|
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr)
|
|
|