NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)
|
rs188655353
|
0.00101
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00057
|
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)
|
rs55948916
|
0.00026
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
|
rs371904688
|
0.00021
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00020
|
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu)
|
rs368884003
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
|
rs200450557
|
0.00016
|
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln)
|
rs373540400
|
0.00014
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
|
rs371066387
|
0.00009
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu)
|
rs746621296
|
0.00009
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
NM_000092.5(COL4A4):c.1460-6G>A
|
rs771213140
|
0.00008
|
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr)
|
rs751663801
|
0.00008
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)
|
rs200973262
|
0.00008
|
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser)
|
rs780504632
|
0.00007
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu)
|
rs200411532
|
0.00006
|
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln)
|
rs371326070
|
0.00006
|
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys)
|
rs754398956
|
0.00006
|
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)
|
rs753208968
|
0.00006
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
NM_000092.5(COL4A4):c.4961C>T (p.Thr1654Met)
|
rs771066050
|
0.00006
|
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
|
rs775358063
|
0.00006
|
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe)
|
rs201403066
|
0.00006
|
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala)
|
rs548019779
|
0.00005
|
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
|
rs533602128
|
0.00005
|
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=)
|
rs772517977
|
0.00005
|
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala)
|
rs769300622
|
0.00005
|
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser)
|
rs372558522
|
0.00005
|
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)
|
rs201615111
|
0.00005
|
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=)
|
rs202109186
|
0.00005
|
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn)
|
rs376401228
|
0.00005
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn)
|
rs764279454
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.2717-3C>T
|
rs191634780
|
0.00004
|
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg)
|
rs370474706
|
0.00004
|
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu)
|
rs189847470
|
0.00004
|
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu)
|
rs548799639
|
0.00004
|
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
|
rs370734150
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys)
|
rs766771700
|
0.00004
|
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu)
|
rs756535060
|
0.00004
|
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val)
|
rs780916516
|
0.00004
|
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val)
|
rs762613810
|
0.00004
|
NM_000092.5(COL4A4):c.4837G>A (p.Gly1613Arg)
|
rs377233046
|
0.00004
|
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=)
|
rs375911030
|
0.00004
|
NM_000092.5(COL4A4):c.90C>T (p.Leu30=)
|
rs747805491
|
0.00004
|
NM_000092.5(COL4A4):c.980A>G (p.Glu327Gly)
|
rs375714304
|
0.00004
|
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)
|
rs772699709
|
0.00003
|
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg)
|
rs899227425
|
0.00003
|
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys)
|
rs372161135
|
0.00003
|
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)
|
rs757328549
|
0.00003
|
NM_000092.5(COL4A4):c.-1G>A
|
rs780102207
|
0.00002
|
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)
|
rs750707504
|
0.00002
|
NM_000092.5(COL4A4):c.1276G>A (p.Gly426Arg)
|
rs552375817
|
0.00002
|
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=)
|
rs374935235
|
0.00002
|
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn)
|
rs201181725
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000092.5(COL4A4):c.2908C>G (p.Gln970Glu)
|
rs372413045
|
0.00002
|
NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly)
|
rs770930167
|
0.00002
|
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly)
|
rs778458961
|
0.00002
|
NM_000092.5(COL4A4):c.372+7A>G
|
rs1483461114
|
0.00002
|
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)
|
rs571869797
|
0.00002
|
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile)
|
rs368105222
|
0.00002
|
NM_000092.5(COL4A4):c.4322C>G (p.Pro1441Arg)
|
rs192942886
|
0.00002
|
NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His)
|
rs200109045
|
0.00002
|
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn)
|
rs886055723
|
0.00002
|
NM_000092.5(COL4A4):c.490-3C>G
|
rs762040845
|
0.00002
|
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu)
|
rs542384685
|
0.00002
|
NM_000092.5(COL4A4):c.539G>A (p.Gly180Asp)
|
rs770685084
|
0.00002
|
NM_000092.5(COL4A4):c.1036C>T (p.Pro346Ser)
|
rs1042927949
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala)
|
rs751952236
|
0.00001
|
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)
|
rs778832152
|
0.00001
|
NM_000092.5(COL4A4):c.1225C>T (p.Pro409Ser)
|
rs377292825
|
0.00001
|
NM_000092.5(COL4A4):c.123G>C (p.Lys41Asn)
|
rs1162611784
|
0.00001
|
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys)
|
rs753016038
|
0.00001
|
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg)
|
rs1319908269
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe)
|
rs570529667
|
0.00001
|
NM_000092.5(COL4A4):c.1792C>A (p.Pro598Thr)
|
rs1411689737
|
0.00001
|
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn)
|
rs747599746
|
0.00001
|
NM_000092.5(COL4A4):c.1961G>A (p.Gly654Asp)
|
rs1158615890
|
0.00001
|
NM_000092.5(COL4A4):c.1988-3C>T
|
rs752688851
|
0.00001
|
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)
|
rs142093416
|
0.00001
|
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)
|
rs759828394
|
0.00001
|
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg)
|
rs202243658
|
0.00001
|
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
|
rs1393470640
|
0.00001
|
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val)
|
rs747881404
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val)
|
rs377676207
|
0.00001
|
NM_000092.5(COL4A4):c.2383+3A>G
|
rs1351961379
|
0.00001
|
NM_000092.5(COL4A4):c.2407C>T (p.Leu803=)
|
rs762646235
|
0.00001
|
NM_000092.5(COL4A4):c.242C>A (p.Ala81Asp)
|
rs747022394
|
0.00001
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
NM_000092.5(COL4A4):c.264A>G (p.Ser88=)
|
rs746574978
|
0.00001
|
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys)
|
rs1440047357
|
0.00001
|
NM_000092.5(COL4A4):c.2860+3A>C
|
rs1214723450
|
0.00001
|
NM_000092.5(COL4A4):c.2888G>A (p.Gly963Glu)
|
rs1396467090
|
0.00001
|
NM_000092.5(COL4A4):c.2969-10A>G
|
rs1576130915
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.303A>T (p.Gly101=)
|
rs1450052915
|
0.00001
|
NM_000092.5(COL4A4):c.3214+6G>A
|
rs372554120
|
0.00001
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
0.00001
|
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp)
|
rs1559482299
|
0.00001
|
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu)
|
rs1260916310
|
0.00001
|
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala)
|
rs371803356
|
0.00001
|
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)
|
rs1384523881
|
0.00001
|
NM_000092.5(COL4A4):c.3805G>C (p.Asp1269His)
|
rs763515232
|
0.00001
|
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val)
|
rs770364064
|
0.00001
|
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)
|
rs377511303
|
0.00001
|
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro)
|
rs764494474
|
0.00001
|
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg)
|
rs775926807
|
0.00001
|
NM_000092.5(COL4A4):c.4412A>C (p.His1471Pro)
|
rs762796207
|
0.00001
|
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln)
|
rs1478610555
|
0.00001
|
NM_000092.5(COL4A4):c.4624T>C (p.Trp1542Arg)
|
rs1161192021
|
0.00001
|
NM_000092.5(COL4A4):c.4643C>T (p.Pro1548Leu)
|
rs761671093
|
0.00001
|
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu)
|
rs901711159
|
0.00001
|
NM_000092.5(COL4A4):c.4910G>A (p.Arg1637Gln)
|
rs937092831
|
0.00001
|
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala)
|
rs1354826968
|
0.00001
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
NM_000092.5(COL4A4):c.595-7T>A
|
rs765195717
|
0.00001
|
NM_000092.5(COL4A4):c.641G>A (p.Gly214Glu)
|
rs2061038363
|
0.00001
|
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser)
|
rs779795137
|
0.00001
|
NM_000092.5(COL4A4):c.673C>A (p.Pro225Thr)
|
rs370606294
|
0.00001
|
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu)
|
rs770011392
|
0.00001
|
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser)
|
rs2060673883
|
0.00001
|
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys)
|
rs762043158
|
0.00001
|
NC_000002.11:g.(?_227886744)_(227890546_?)del
|
|
|
NC_000002.11:g.(?_227890498)_(227890546_?)del
|
|
|
NC_000002.11:g.(?_227912181)_(227912275_?)del
|
|
|
NC_000002.11:g.(?_227945159)_(228012196_?)dup
|
|
|
NC_000002.11:g.(?_227946811)_(227954693_?)dup
|
|
|
NC_000002.11:g.(?_227946831)_(227954673_?)dup
|
|
|
NM_000092.5(COL4A4):c.1007T>C (p.Leu336Pro)
|
rs2150773325
|
|
NM_000092.5(COL4A4):c.1028A>C (p.Lys343Thr)
|
|
|
NM_000092.5(COL4A4):c.1029+11A>G
|
|
|
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)
|
rs990679247
|
|
NM_000092.5(COL4A4):c.103T>C (p.Tyr35His)
|
rs2063418861
|
|
NM_000092.5(COL4A4):c.1048G>A (p.Gly350Arg)
|
|
|
NM_000092.5(COL4A4):c.1051C>T (p.His351Tyr)
|
|
|
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe)
|
rs374680846
|
|
NM_000092.5(COL4A4):c.1087C>T (p.Leu363Phe)
|
|
|
NM_000092.5(COL4A4):c.1091C>T (p.Pro364Leu)
|
|
|
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=)
|
rs1305609812
|
|
NM_000092.5(COL4A4):c.1100-20T>G
|
|
|
NM_000092.5(COL4A4):c.1100-3C>T
|
|
|
NM_000092.5(COL4A4):c.1111G>T (p.Asp371Tyr)
|
|
|
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg)
|
rs2150739928
|
|
NM_000092.5(COL4A4):c.1159C>T (p.Pro387Ser)
|
rs1351733260
|
|
NM_000092.5(COL4A4):c.1162G>A (p.Gly388Ser)
|
|
|
NM_000092.5(COL4A4):c.1180G>A (p.Gly394Ser)
|
rs2150739370
|
|
NM_000092.5(COL4A4):c.1204+5G>A
|
rs748967270
|
|
NM_000092.5(COL4A4):c.1204+7A>G
|
rs2060338870
|
|
NM_000092.5(COL4A4):c.1226C>T (p.Pro409Leu)
|
|
|
NM_000092.5(COL4A4):c.1228C>G (p.Gln410Glu)
|
|
|
NM_000092.5(COL4A4):c.1229A>G (p.Gln410Arg)
|
|
|
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp)
|
rs2150687507
|
|
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile)
|
|
|
NM_000092.5(COL4A4):c.1292C>T (p.Ala431Val)
|
|
|
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del)
|
rs1362664502
|
|
NM_000092.5(COL4A4):c.1304C>A (p.Pro435Gln)
|
|
|
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr)
|
rs2150686207
|
|
NM_000092.5(COL4A4):c.1361G>C (p.Gly454Ala)
|
rs2150685500
|
|
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=)
|
rs774673142
|
|
NM_000092.5(COL4A4):c.1426C>A (p.Pro476Thr)
|
rs780544830
|
|
NM_000092.5(COL4A4):c.142G>C (p.Gly48Arg)
|
|
|
NM_000092.5(COL4A4):c.1460G>A (p.Gly487Glu)
|
rs1064796418
|
|
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys)
|
rs2059739807
|
|
NM_000092.5(COL4A4):c.1477G>T (p.Ala493Ser)
|
|
|
NM_000092.5(COL4A4):c.1487C>T (p.Pro496Leu)
|
rs2150596608
|
|
NM_000092.5(COL4A4):c.1505C>G (p.Pro502Arg)
|
|
|
NM_000092.5(COL4A4):c.1508G>T (p.Gly503Val)
|
rs2059737659
|
|
NM_000092.5(COL4A4):c.1551G>T (p.Leu517Phe)
|
|
|
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu)
|
rs564334744
|
|
NM_000092.5(COL4A4):c.1573A>G (p.Thr525Ala)
|
|
|
NM_000092.5(COL4A4):c.1623+3G>C
|
|
|
NM_000092.5(COL4A4):c.1634G>T (p.Gly545Val)
|
|
|
NM_000092.5(COL4A4):c.1690G>A (p.Val564Ile)
|
|
|
NM_000092.5(COL4A4):c.169T>C (p.Cys57Arg)
|
|
|
NM_000092.5(COL4A4):c.1700A>G (p.His567Arg)
|
rs2150506568
|
|
NM_000092.5(COL4A4):c.1718C>T (p.Pro573Leu)
|
|
|
NM_000092.5(COL4A4):c.1750G>A (p.Gly584Arg)
|
|
|
NM_000092.5(COL4A4):c.1756C>A (p.His586Asn)
|
|
|
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
|
|
|
NM_000092.5(COL4A4):c.1772A>C (p.His591Pro)
|
|
|
NM_000092.5(COL4A4):c.1774G>C (p.Ala592Pro)
|
|
|
NM_000092.5(COL4A4):c.1778G>A (p.Gly593Glu)
|
|
|
NM_000092.5(COL4A4):c.1804-7T>G
|
rs2150477819
|
|
NM_000092.5(COL4A4):c.1805G>A (p.Gly602Glu)
|
|
|
NM_000092.5(COL4A4):c.1811A>G (p.His604Arg)
|
|
|
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala)
|
rs1263397268
|
|
NM_000092.5(COL4A4):c.1829G>A (p.Gly610Asp)
|
rs2150477193
|
|
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser)
|
rs758860164
|
|
NM_000092.5(COL4A4):c.1865G>A (p.Gly622Asp)
|
|
|
NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val)
|
rs2150476651
|
|
NM_000092.5(COL4A4):c.1877C>T (p.Pro626Leu)
|
rs1468423581
|
|
NM_000092.5(COL4A4):c.192+3A>G
|
|
|
NM_000092.5(COL4A4):c.192+5G>A
|
|
|
NM_000092.5(COL4A4):c.1952G>A (p.Gly651Asp)
|
rs2059121113
|
|
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn)
|
|
|
NM_000092.5(COL4A4):c.1987+4A>G
|
rs1559562567
|
|
NM_000092.5(COL4A4):c.2014T>C (p.Tyr672His)
|
rs2150312695
|
|
NM_000092.5(COL4A4):c.2023A>T (p.Arg675Trp)
|
rs1018765959
|
|
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg)
|
|
|
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp)
|
rs1156323870
|
|
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
|
|
|
NM_000092.5(COL4A4):c.2124A>T (p.Arg708Ser)
|
rs2150287552
|
|
NM_000092.5(COL4A4):c.2131A>G (p.Thr711Ala)
|
|
|
NM_000092.5(COL4A4):c.2135C>T (p.Pro712Leu)
|
|
|
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu)
|
rs749186337
|
|
NM_000092.5(COL4A4):c.2164+13_2164+14insTTTGT
|
|
|
NM_000092.5(COL4A4):c.2165-4A>G
|
rs776551903
|
|
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)
|
rs2150277040
|
|
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu)
|
|
|
NM_000092.5(COL4A4):c.2191G>C (p.Gly731Arg)
|
|
|
NM_000092.5(COL4A4):c.2195T>A (p.Phe732Tyr)
|
|
|
NM_000092.5(COL4A4):c.2208G>C (p.Lys736Asn)
|
rs1976364730
|
|
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser)
|
|
|
NM_000092.5(COL4A4):c.2224G>A (p.Gly742Arg)
|
|
|
NM_000092.5(COL4A4):c.2246C>T (p.Ser749Leu)
|
|
|
NM_000092.5(COL4A4):c.226A>G (p.Ile76Val)
|
|
|
NM_000092.5(COL4A4):c.2335C>T (p.Pro779Ser)
|
|
|
NM_000092.5(COL4A4):c.2377G>A (p.Ala793Thr)
|
|
|
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly)
|
|
|
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu)
|
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2428G>A (p.Gly810Ser)
|
rs1975763905
|
|
NM_000092.5(COL4A4):c.2432G>C (p.Arg811Thr)
|
|
|
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val)
|
rs1576189036
|
|
NM_000092.5(COL4A4):c.2459T>A (p.Val820Asp)
|
|
|
NM_000092.5(COL4A4):c.2474G>A (p.Gly825Asp)
|
|
|
NM_000092.5(COL4A4):c.2479T>C (p.Ser827Pro)
|
|
|
NM_000092.5(COL4A4):c.2533C>T (p.Pro845Ser)
|
|
|
NM_000092.5(COL4A4):c.2585C>G (p.Pro862Arg)
|
|
|
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe)
|
rs910142548
|
|
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup)
|
rs765923395
|
|
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup)
|
rs1553641597
|
|
NM_000092.5(COL4A4):c.2629_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly)
|
|
|
NM_000092.5(COL4A4):c.2635G>A (p.Gly879Arg)
|
|
|
NM_000092.5(COL4A4):c.263C>T (p.Ser88Leu)
|
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp)
|
rs1425028482
|
|
NM_000092.5(COL4A4):c.26T>C (p.Met9Thr)
|
|
|
NM_000092.5(COL4A4):c.2726G>T (p.Gly909Val)
|
|
|
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
|
|
|
NM_000092.5(COL4A4):c.275G>A (p.Gly92Glu)
|
rs2125036772
|
|
NM_000092.5(COL4A4):c.2766G>C (p.Lys922Asn)
|
|
|
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
|
|
|
NM_000092.5(COL4A4):c.2803C>A (p.Pro935Thr)
|
|
|
NM_000092.5(COL4A4):c.2842G>A (p.Gly948Arg)
|
|
|
NM_000092.5(COL4A4):c.2846T>C (p.Leu949Pro)
|
|
|
NM_000092.5(COL4A4):c.2860G>A (p.Gly954Arg)
|
rs2150219187
|
|
NM_000092.5(COL4A4):c.2956C>T (p.Pro986Ser)
|
rs1576142052
|
|
NM_000092.5(COL4A4):c.2963A>G (p.Glu988Gly)
|
rs1200638480
|
|
NM_000092.5(COL4A4):c.2971G>C (p.Asp991His)
|
|
|
NM_000092.5(COL4A4):c.2977G>A (p.Gly993Arg)
|
|
|
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp)
|
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
NM_000092.5(COL4A4):c.3029C>T (p.Pro1010Leu)
|
|
|
NM_000092.5(COL4A4):c.304G>A (p.Ala102Thr)
|
|
|
NM_000092.5(COL4A4):c.3055G>A (p.Glu1019Lys)
|
|
|
NM_000092.5(COL4A4):c.3061G>C (p.Gly1021Arg)
|
|
|
NM_000092.5(COL4A4):c.3070G>T (p.Gly1024Trp)
|
rs2150182132
|
|
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro)
|
|
|
NM_000092.5(COL4A4):c.3083C>T (p.Pro1028Leu)
|
rs1403780482
|
|
NM_000092.5(COL4A4):c.3089G>C (p.Gly1030Ala)
|
|
|
NM_000092.5(COL4A4):c.3115G>A (p.Gly1039Arg)
|
|
|
NM_000092.5(COL4A4):c.3145G>A (p.Asp1049Asn)
|
|
|
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala)
|
|
|
NM_000092.5(COL4A4):c.3152G>T (p.Gly1051Val)
|
|
|
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg)
|
|
|
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg)
|
rs1333536476
|
|
NM_000092.5(COL4A4):c.3200C>T (p.Ala1067Val)
|
rs1392922149
|
|
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu)
|
rs2150172344
|
|
NM_000092.5(COL4A4):c.3228C>A (p.Asp1076Glu)
|
|
|
NM_000092.5(COL4A4):c.3263G>A (p.Gly1088Asp)
|
rs2150149041
|
|
NM_000092.5(COL4A4):c.3301G>T (p.Ala1101Ser)
|
rs2150103907
|
|
NM_000092.5(COL4A4):c.3304T>A (p.Ser1102Thr)
|
|
|
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
|
|
|
NM_000092.5(COL4A4):c.3331C>A (p.Gln1111Lys)
|
|
|
NM_000092.5(COL4A4):c.3349C>T (p.Pro1117Ser)
|
|
|
NM_000092.5(COL4A4):c.334A>G (p.Thr112Ala)
|
rs1649155828
|
|
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
|
|
|
NM_000092.5(COL4A4):c.3358C>T (p.Pro1120Ser)
|
|
|
NM_000092.5(COL4A4):c.3386C>G (p.Pro1129Arg)
|
|
|
NM_000092.5(COL4A4):c.3397G>T (p.Gly1133Cys)
|
|
|
NM_000092.5(COL4A4):c.3460G>A (p.Gly1154Ser)
|
rs2150094978
|
|
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp)
|
|
|
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp)
|
rs1559480099
|
|
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
|
rs1559480099
|
|
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser)
|
|
|
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys)
|
rs1158350974
|
|
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn)
|
|
|
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys)
|
|
|
NM_000092.5(COL4A4):c.3638G>A (p.Gly1213Glu)
|
|
|
NM_000092.5(COL4A4):c.3643C>G (p.Pro1215Ala)
|
|
|
NM_000092.5(COL4A4):c.3650G>T (p.Ser1217Ile)
|
|
|
NM_000092.5(COL4A4):c.3667C>T (p.Pro1223Ser)
|
rs771575941
|
|
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
|
|
|
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
|
|
|
NM_000092.5(COL4A4):c.3679G>A (p.Gly1227Arg)
|
rs1968570122
|
|
NM_000092.5(COL4A4):c.3689G>A (p.Gly1230Asp)
|
|
|
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala)
|
|
|
NM_000092.5(COL4A4):c.373G>C (p.Gly125Arg)
|
rs2061619888
|
|
NM_000092.5(COL4A4):c.3751C>A (p.Pro1251Thr)
|
|
|
NM_000092.5(COL4A4):c.3754A>G (p.Lys1252Glu)
|
|
|
NM_000092.5(COL4A4):c.3773G>A (p.Gly1258Asp)
|
rs1968521797
|
|
NM_000092.5(COL4A4):c.3781G>A (p.Gly1261Arg)
|
|
|
NM_000092.5(COL4A4):c.3796C>T (p.Pro1266Ser)
|
rs267599226
|
|
NM_000092.5(COL4A4):c.3816A>T (p.Arg1272Ser)
|
|
|
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser)
|
rs1037084154
|
|
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)
|
rs777134408
|
|
NM_000092.5(COL4A4):c.3848G>T (p.Ser1283Ile)
|
|
|
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp)
|
rs971779449
|
|
NM_000092.5(COL4A4):c.3961G>C (p.Asp1321His)
|
rs1326584789
|
|
NM_000092.5(COL4A4):c.3974G>A (p.Gly1325Glu)
|
|
|
NM_000092.5(COL4A4):c.3986T>C (p.Phe1329Ser)
|
|
|
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser)
|
|
|
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val)
|
|
|
NM_000092.5(COL4A4):c.4051C>G (p.Pro1351Ala)
|
|
|
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys)
|
rs747708741
|
|
NM_000092.5(COL4A4):c.4091-12T>C
|
|
|
NM_000092.5(COL4A4):c.4096C>T (p.Pro1366Ser)
|
|
|
NM_000092.5(COL4A4):c.409G>A (p.Gly137Ser)
|
|
|
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp)
|
|
|
NM_000092.5(COL4A4):c.4142T>C (p.Leu1381Pro)
|
|
|
NM_000092.5(COL4A4):c.4153C>T (p.Pro1385Ser)
|
rs2149853379
|
|
NM_000092.5(COL4A4):c.4163G>A (p.Arg1388Lys)
|
|
|
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg)
|
|
|
NM_000092.5(COL4A4):c.4216+4T>C
|
|
|
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu)
|
|
|
NM_000092.5(COL4A4):c.4238T>G (p.Leu1413Arg)
|
|
|
NM_000092.5(COL4A4):c.4330C>A (p.Pro1444Thr)
|
|
|
NM_000092.5(COL4A4):c.4333+6G>T
|
|
|
NM_000092.5(COL4A4):c.4346C>G (p.Pro1449Arg)
|
|
|
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn)
|
rs72969704
|
|
NM_000092.5(COL4A4):c.4358C>T (p.Pro1453Leu)
|
rs2149745307
|
|
NM_000092.5(COL4A4):c.4372T>C (p.Phe1458Leu)
|
|
|
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val)
|
|
|
NM_000092.5(COL4A4):c.4396T>C (p.Phe1466Leu)
|
|
|
NM_000092.5(COL4A4):c.4415G>A (p.Ser1472Asn)
|
rs2149744588
|
|
NM_000092.5(COL4A4):c.443C>G (p.Pro148Arg)
|
|
|
NM_000092.5(COL4A4):c.443C>T (p.Pro148Leu)
|
|
|
NM_000092.5(COL4A4):c.4498G>A (p.Glu1500Lys)
|
|
|
NM_000092.5(COL4A4):c.4519C>T (p.Leu1507Phe)
|
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
NM_000092.5(COL4A4):c.4544C>T (p.Pro1515Leu)
|
|
|
NM_000092.5(COL4A4):c.4550T>C (p.Phe1517Ser)
|
rs1575697378
|
|
NM_000092.5(COL4A4):c.4550T>G (p.Phe1517Cys)
|
|
|
NM_000092.5(COL4A4):c.4555A>C (p.Thr1519Pro)
|
|
|
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)
|
|
|
NM_000092.5(COL4A4):c.4607G>T (p.Arg1536Ile)
|
|
|
NM_000092.5(COL4A4):c.4636G>A (p.Ala1546Thr)
|
|
|
NM_000092.5(COL4A4):c.4642C>T (p.Pro1548Ser)
|
|
|
NM_000092.5(COL4A4):c.4664C>T (p.Ser1555Phe)
|
rs2149721513
|
|
NM_000092.5(COL4A4):c.4688T>G (p.Val1563Gly)
|
rs2149721235
|
|
NM_000092.5(COL4A4):c.4724C>T (p.Ala1575Val)
|
|
|
NM_000092.5(COL4A4):c.4741_4744delinsAAGA (p.Gln1581_Asp1582delinsLysAsn)
|
rs2149720398
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg)
|
|
|
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr)
|
|
|
NM_000092.5(COL4A4):c.4764T>G (p.Cys1588Trp)
|
|
|
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys)
|
|
|
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup)
|
rs1553695272
|
|
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg)
|
rs200799557
|
|
NM_000092.5(COL4A4):c.4784T>C (p.Leu1595Pro)
|
|
|
NM_000092.5(COL4A4):c.4809+6T>A
|
rs1469771734
|
|
NM_000092.5(COL4A4):c.4840C>A (p.Gln1614Lys)
|
|
|
NM_000092.5(COL4A4):c.490-5T>G
|
|
|
NM_000092.5(COL4A4):c.4916G>A (p.Gly1639Glu)
|
|
|
NM_000092.5(COL4A4):c.494A>C (p.His165Pro)
|
rs1395435419
|
|
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer)
|
rs1308677161
|
|
NM_000092.5(COL4A4):c.5030G>A (p.Arg1677His)
|
|
|
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg)
|
|
|
NM_000092.5(COL4A4):c.517G>A (p.Gly173Arg)
|
|
|
NM_000092.5(COL4A4):c.558+5G>A
|
|
|
NM_000092.5(COL4A4):c.559-9T>G
|
rs1393612363
|
|
NM_000092.5(COL4A4):c.559G>A (p.Gly187Arg)
|
|
|
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
|
rs1039244540
|
|
NM_000092.5(COL4A4):c.596G>C (p.Gly199Ala)
|
|
|
NM_000092.5(COL4A4):c.619G>A (p.Ala207Thr)
|
|
|
NM_000092.5(COL4A4):c.635A>T (p.Tyr212Phe)
|
|
|
NM_000092.5(COL4A4):c.645G>C (p.Glu215Asp)
|
|
|
NM_000092.5(COL4A4):c.674C>G (p.Pro225Arg)
|
|
|
NM_000092.5(COL4A4):c.679C>T (p.Arg227Cys)
|
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000092.5(COL4A4):c.680G>C (p.Arg227Pro)
|
|
|
NM_000092.5(COL4A4):c.72-3T>C
|
|
|
NM_000092.5(COL4A4):c.735+4A>G
|
|
|
NM_000092.5(COL4A4):c.735G>C (p.Pro245=)
|
rs923865420
|
|
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala)
|
rs1559631986
|
|
NM_000092.5(COL4A4):c.73T>G (p.Ser25Ala)
|
rs2125348343
|
|
NM_000092.5(COL4A4):c.764G>A (p.Gly255Glu)
|
rs2060673481
|
|
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
|
|
|
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu)
|
rs2150805428
|
|
NM_000092.5(COL4A4):c.818G>T (p.Gly273Val)
|
|
|
NM_000092.5(COL4A4):c.819_821dup (p.Ile274_Lys275insIle)
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.841G>T (p.Val281Phe)
|
|
|
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu)
|
rs2060621902
|
|
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
|
|
|
NM_000092.5(COL4A4):c.870+3A>G
|
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
NM_000092.5(COL4A4):c.871-2dup
|
|
|
NM_000092.5(COL4A4):c.879T>A (p.Ser293=)
|
rs2150788345
|
|
NM_000092.5(COL4A4):c.881G>T (p.Gly294Val)
|
|
|
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
|
|
|
NM_000092.5(COL4A4):c.901A>G (p.Lys301Glu)
|
|
|
NM_000092.5(COL4A4):c.904G>T (p.Gly302Cys)
|
rs2150787894
|
|
NM_000092.5(COL4A4):c.905G>C (p.Gly302Ala)
|
|
|
NM_000092.5(COL4A4):c.905G>T (p.Gly302Val)
|
rs777687210
|
|
NM_000092.5(COL4A4):c.913G>A (p.Gly305Arg)
|
rs1045939403
|
|
NM_000092.5(COL4A4):c.930+4A>G
|
rs2150787463
|
|
NM_000092.5(COL4A4):c.958G>A (p.Gly320Ser)
|
|
|
NM_000092.5(COL4A4):c.962T>C (p.Phe321Ser)
|
|
|
NM_000092.5(COL4A4):c.976-3T>C
|
|
|
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)
|
|
|