|
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly)
|
rs6436669
|
0.77323
|
|
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)
|
rs10178458
|
0.77314
|
|
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)
|
rs10205042
|
0.72668
|
|
NM_000091.5(COL4A3):c.144+12C>A
|
rs1882435
|
0.29027
|
|
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
|
rs34019152
|
0.07474
|
|
NM_000092.5(COL4A4):c.2717-5A>T
|
rs1800519
|
0.01182
|
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
|
NM_000091.5(COL4A3):c.3566-10T>C
|
rs114719458
|
0.00331
|
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
|
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)
|
rs201607115
|
0.00132
|
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
|
NM_000091.5(COL4A3):c.888+17G>A
|
rs199840268
|
0.00068
|
|
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg)
|
rs200866082
|
0.00067
|
|
NM_000091.5(COL4A3):c.2489-8G>A
|
rs201846272
|
0.00061
|
|
NM_000091.5(COL4A3):c.21C>A (p.Pro7=)
|
rs530353117
|
0.00041
|
|
NM_000091.5(COL4A3):c.-10C>T
|
rs781380101
|
0.00039
|
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
|
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe)
|
rs200107989
|
0.00037
|
|
NM_000091.5(COL4A3):c.2489-18T>A
|
rs79573480
|
0.00035
|
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
|
NM_000091.5(COL4A3):c.204T>C (p.Pro68=)
|
rs200170381
|
0.00026
|
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
|
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)
|
rs201198284
|
0.00024
|
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
|
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)
|
rs189574905
|
0.00021
|
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
|
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)
|
rs148686474
|
0.00016
|
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
|
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=)
|
rs187921460
|
0.00016
|
|
NM_000091.5(COL4A3):c.2125+14T>A
|
rs563131123
|
0.00014
|
|
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=)
|
rs372423505
|
0.00014
|
|
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=)
|
rs554940562
|
0.00014
|
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
|
NM_000091.5(COL4A3):c.442-15T>C
|
rs770450269
|
0.00013
|
|
NM_000091.5(COL4A3):c.468+8A>G
|
rs374368957
|
0.00013
|
|
NM_000091.5(COL4A3):c.4407T>C (p.Ser1469=)
|
rs373720128
|
0.00012
|
|
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp)
|
rs200668675
|
0.00012
|
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
|
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)
|
rs200984988
|
0.00011
|
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
|
NM_000091.5(COL4A3):c.4449C>T (p.His1483=)
|
rs140672401
|
0.00011
|
|
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)
|
rs759074046
|
0.00011
|
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
|
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)
|
rs890999119
|
0.00009
|
|
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)
|
rs377136253
|
0.00009
|
|
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu)
|
rs368342782
|
0.00009
|
|
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)
|
rs377003650
|
0.00009
|
|
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)
|
rs374427586
|
0.00009
|
|
NM_000091.5(COL4A3):c.4755+18A>G
|
rs553695911
|
0.00009
|
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00008
|
|
NM_000091.5(COL4A3):c.63G>A (p.Leu21=)
|
rs1036829250
|
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_000091.5(COL4A3):c.11G>A (p.Arg4Gln)
|
rs921905047
|
0.00007
|
|
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
|
rs369567469
|
0.00007
|
|
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His)
|
rs893516153
|
0.00007
|
|
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
|
rs145948549
|
0.00007
|
|
NM_000091.5(COL4A3):c.4314T>C (p.Pro1438=)
|
rs750401163
|
0.00007
|
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
|
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser)
|
rs745472969
|
0.00006
|
|
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=)
|
rs200125890
|
0.00006
|
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
|
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)
|
rs753208968
|
0.00006
|
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
|
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
|
rs772037798
|
0.00005
|
|
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=)
|
rs201419174
|
0.00005
|
|
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=)
|
rs755312698
|
0.00005
|
|
NM_000091.5(COL4A3):c.325-20G>A
|
rs760968700
|
0.00005
|
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
|
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala)
|
rs548019779
|
0.00005
|
|
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)
|
rs765336013
|
0.00004
|
|
NM_000091.5(COL4A3):c.1115-12A>G
|
rs761088575
|
0.00004
|
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
|
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)
|
rs369320502
|
0.00004
|
|
NM_000091.5(COL4A3):c.2133A>G (p.Gln711=)
|
rs527383673
|
0.00004
|
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
|
NM_000091.5(COL4A3):c.2767G>A (p.Val923Ile)
|
rs917860017
|
0.00004
|
|
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
|
rs772164474
|
0.00004
|
|
NM_000091.5(COL4A3):c.3211-13G>C
|
rs200555661
|
0.00004
|
|
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)
|
rs368434069
|
0.00004
|
|
NM_000091.5(COL4A3):c.3672A>G (p.Pro1224=)
|
rs768260547
|
0.00004
|
|
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu)
|
rs1178734829
|
0.00004
|
|
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
|
rs558813497
|
0.00004
|
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
|
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)
|
rs377575924
|
0.00004
|
|
NM_000091.5(COL4A3):c.516C>T (p.Asp172=)
|
rs759455097
|
0.00004
|
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
|
NM_000091.5(COL4A3):c.988-6C>T
|
rs762463604
|
0.00004
|
|
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn)
|
rs764279454
|
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.723A>C (p.Gln241His)
|
rs201673987
|
0.00004
|
|
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)
|
rs200738124
|
0.00003
|
|
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=)
|
rs748691382
|
0.00003
|
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
|
NM_000091.5(COL4A3):c.1515C>T (p.Gly505=)
|
rs200416402
|
0.00003
|
|
NM_000091.5(COL4A3):c.2489-9C>T
|
rs749574789
|
0.00003
|
|
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys)
|
rs761717909
|
0.00003
|
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
|
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser)
|
rs371452712
|
0.00003
|
|
NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser)
|
rs761262391
|
0.00003
|
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
|
NM_000091.5(COL4A3):c.714G>A (p.Pro238=)
|
rs555225084
|
0.00003
|
|
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu)
|
rs1412919917
|
0.00003
|
|
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu)
|
rs773533313
|
0.00003
|
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
|
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=)
|
rs748004604
|
0.00002
|
|
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=)
|
rs751356130
|
0.00002
|
|
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr)
|
rs773674552
|
0.00002
|
|
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu)
|
rs759579342
|
0.00002
|
|
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)
|
rs755344973
|
0.00002
|
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
|
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)
|
rs761518401
|
0.00002
|
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
|
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)
|
rs764451365
|
0.00002
|
|
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)
|
rs760846085
|
0.00002
|
|
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)
|
rs371173786
|
0.00002
|
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
|
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp)
|
rs566993466
|
0.00002
|
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
|
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)
|
rs778166354
|
0.00001
|
|
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del)
|
rs762420854
|
0.00001
|
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
|
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser)
|
rs1041119510
|
0.00001
|
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
|
NM_000091.5(COL4A3):c.1505-2A>C
|
rs1247804051
|
0.00001
|
|
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=)
|
rs749945759
|
0.00001
|
|
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)
|
rs779575469
|
0.00001
|
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
|
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=)
|
rs376896231
|
0.00001
|
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
|
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=)
|
rs758586879
|
0.00001
|
|
NM_000091.5(COL4A3):c.1927+2T>C
|
rs1158937060
|
0.00001
|
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
|
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)
|
rs199554662
|
0.00001
|
|
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=)
|
rs776512229
|
0.00001
|
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
|
NM_000091.5(COL4A3):c.2489-5C>T
|
rs1351916467
|
0.00001
|
|
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr)
|
rs572059687
|
0.00001
|
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
|
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu)
|
rs746766677
|
0.00001
|
|
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)
|
rs1453590085
|
0.00001
|
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
0.00001
|
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
|
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)
|
rs1192750535
|
0.00001
|
|
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp)
|
rs766420056
|
0.00001
|
|
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
|
rs769395979
|
0.00001
|
|
NM_000091.5(COL4A3):c.3337+15T>C
|
rs1230244758
|
0.00001
|
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
|
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=)
|
rs754567461
|
0.00001
|
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
|
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser)
|
rs761347389
|
0.00001
|
|
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp)
|
rs755849032
|
0.00001
|
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
|
NM_000091.5(COL4A3):c.3690C>T (p.Pro1230=)
|
rs375442737
|
0.00001
|
|
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
|
rs759579368
|
0.00001
|
|
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=)
|
rs376887131
|
0.00001
|
|
NM_000091.5(COL4A3):c.388-15T>C
|
rs762513527
|
0.00001
|
|
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)
|
rs375290088
|
0.00001
|
|
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)
|
rs886055742
|
0.00001
|
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
0.00001
|
|
NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu)
|
rs760462252
|
0.00001
|
|
NM_000091.5(COL4A3):c.441G>A (p.Pro147=)
|
rs373559251
|
0.00001
|
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
|
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)
|
rs976882559
|
0.00001
|
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
|
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg)
|
rs1260966222
|
0.00001
|
|
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=)
|
rs1309123639
|
0.00001
|
|
NM_000091.5(COL4A3):c.45G>A (p.Pro15=)
|
rs542100614
|
0.00001
|
|
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)
|
rs541108316
|
0.00001
|
|
NM_000091.5(COL4A3):c.4755+1G>A
|
rs1346132592
|
0.00001
|
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
|
NM_000091.5(COL4A3):c.4851T>C (p.His1617=)
|
rs74379096
|
0.00001
|
|
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
|
rs759583948
|
0.00001
|
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
|
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu)
|
rs2069719935
|
0.00001
|
|
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)
|
rs573527081
|
0.00001
|
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
|
NM_000091.5(COL4A3):c.933+9T>C
|
rs752703682
|
0.00001
|
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
|
NM_000092.4(COL4A4):c.-408G>A
|
rs554839865
|
0.00001
|
|
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)
|
rs926605269
|
0.00001
|
|
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val)
|
rs373916569
|
0.00001
|
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
|
NM_000092.5(COL4A4):c.2969-10A>G
|
rs1576130915
|
0.00001
|
|
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala)
|
rs946572297
|
0.00001
|
|
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser)
|
rs780131074
|
0.00001
|
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
|
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser)
|
rs1003748020
|
0.00001
|
|
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser)
|
rs760873029
|
0.00001
|
|
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)
|
rs377058706
|
0.00001
|
|
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser)
|
rs1271416659
|
0.00001
|
|
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala)
|
rs1354826968
|
0.00001
|
|
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)
|
rs766550724
|
0.00001
|
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
|
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr)
|
rs769660371
|
0.00001
|
|
NM_000092.5(COL4A4):c.673C>A (p.Pro225Thr)
|
rs370606294
|
0.00001
|
|
NM_000092.5(COL4A4):c.735+2T>C
|
rs2060993180
|
0.00001
|
|
NM_000092.5(COL4A4):c.735G>A (p.Pro245=)
|
rs923865420
|
0.00001
|
|
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)
|
rs760795817
|
0.00001
|
|
NC_000002.11:g.(?_227942611)_(227942793_?)del
|
|
|
|
NC_000002.12:g.227101910del
|
|
|
|
NM_000091.5(COL4A3):c.1000G>C (p.Asp334His)
|
|
|
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
|
NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1029+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.1029+3A>G
|
|
|
|
NM_000091.5(COL4A3):c.1029+4del
|
|
|
|
NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter)
|
|
|
|
NM_000091.5(COL4A3):c.1046_1047del (p.Thr349fs)
|
|
|
|
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)
|
rs767943108
|
|
|
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp)
|
|
|
|
NM_000091.5(COL4A3):c.1100C>T (p.Ala367Val)
|
|
|
|
NM_000091.5(COL4A3):c.1102C>T (p.Arg368Cys)
|
|
|
|
NM_000091.5(COL4A3):c.1114+1G>A
|
rs1286895614
|
|
|
NM_000091.5(COL4A3):c.1114+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.1114G>T (p.Gly372Cys)
|
|
|
|
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)
|
rs760049264
|
|
|
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)
|
rs2125961933
|
|
|
NM_000091.5(COL4A3):c.1143_1150+1del
|
rs1274459294
|
|
|
NM_000091.5(COL4A3):c.1150+5G>A
|
|
|
|
NM_000091.5(COL4A3):c.1151-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.1151G>T (p.Gly384Val)
|
|
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
|
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)
|
|
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
|
NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer)
|
|
|
|
NM_000091.5(COL4A3):c.1243G>A (p.Gly415Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1249C>T (p.Pro417Ser)
|
|
|
|
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser)
|
rs1363441287
|
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
|
NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val)
|
|
|
|
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)
|
|
|
|
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)
|
rs13424243
|
|
|
NM_000091.5(COL4A3):c.127_128delinsCA (p.Gly43Gln)
|
|
|
|
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=)
|
rs369557944
|
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
|
NM_000091.5(COL4A3):c.131C>A (p.Ala44Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1321dup (p.Ile441fs)
|
|
|
|
NM_000091.5(COL4A3):c.1331G>A (p.Arg444His)
|
|
|
|
NM_000091.5(COL4A3):c.1337G>T (p.Gly446Val)
|
|
|
|
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1349_1352delinsTTCG (p.Asp450_His451delinsValArg)
|
|
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
|
NM_000091.5(COL4A3):c.1366T>G (p.Tyr456Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val)
|
|
|
|
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)
|
rs2125981235
|
|
|
NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1400G>A (p.Gly467Glu)
|
|
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
|
NM_000091.5(COL4A3):c.1408+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.1408+2T>A
|
|
|
|
NM_000091.5(COL4A3):c.1409-5T>G
|
|
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
|
NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter)
|
rs1207493576
|
|
|
NM_000091.5(COL4A3):c.1447C>T (p.Pro483Ser)
|
|
|
|
NM_000091.5(COL4A3):c.1477G>A (p.Gly493Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1504+4_1504+6delinsAAT
|
|
|
|
NM_000091.5(COL4A3):c.1523G>A (p.Gly508Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1537C>T (p.Pro513Ser)
|
|
|
|
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)
|
rs2071142257
|
|
|
NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)
|
rs1574745989
|
|
|
NM_000091.5(COL4A3):c.1575+4A>G
|
|
|
|
NM_000091.5(COL4A3):c.1585G>C (p.Gly529Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
|
NM_000091.5(COL4A3):c.1595G>A (p.Gly532Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1622G>C (p.Gly541Ala)
|
|
|
|
NM_000091.5(COL4A3):c.163G>A (p.Gly55Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1667C>T (p.Pro556Leu)
|
|
|
|
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu)
|
|
|
|
NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu)
|
|
|
|
NM_000091.5(COL4A3):c.172G>C (p.Gly58Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1744C>G (p.Pro582Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1752C>T (p.Gly584=)
|
|
|
|
NM_000091.5(COL4A3):c.1752del (p.Glu585fs)
|
|
|
|
NM_000091.5(COL4A3):c.1758+1G>A
|
rs1553757096
|
|
|
NM_000091.5(COL4A3):c.1758+3del
|
|
|
|
NM_000091.5(COL4A3):c.1774A>C (p.Lys592Gln)
|
|
|
|
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
|
|
|
|
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala)
|
rs2071331630
|
|
|
NM_000091.5(COL4A3):c.1805G>A (p.Gly602Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)
|
|
|
|
NM_000091.5(COL4A3):c.1820del (p.Pro607fs)
|
|
|
|
NM_000091.5(COL4A3):c.1822G>C (p.Gly608Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
|
NM_000091.5(COL4A3):c.1832G>T (p.Gly611Val)
|
|
|
|
NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)
|
|
|
|
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu)
|
rs2071336508
|
|
|
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
|
rs2125996486
|
|
|
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)
|
rs2125996501
|
|
|
NM_000091.5(COL4A3):c.1880A>G (p.Gln627Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1892G>C (p.Gly631Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg)
|
rs1060499696
|
|
|
NM_000091.5(COL4A3):c.1927+11T>A
|
|
|
|
NM_000091.5(COL4A3):c.1927+4G>T
|
|
|
|
NM_000091.5(COL4A3):c.1928-12A>G
|
|
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
|
NM_000091.5(COL4A3):c.1937G>A (p.Gly646Glu)
|
rs2106124459
|
|
|
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs)
|
rs2071566709
|
|
|
NM_000091.5(COL4A3):c.1963C>T (p.Pro655Ser)
|
|
|
|
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu)
|
rs2106124698
|
|
|
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)
|
rs2071568063
|
|
|
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)
|
rs747891356
|
|
|
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg)
|
rs1559890352
|
|
|
NM_000091.5(COL4A3):c.2003_2004delinsA (p.Gly668fs)
|
|
|
|
NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter)
|
|
|
|
NM_000091.5(COL4A3):c.2011G>C (p.Gly671Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2020+1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2030G>T (p.Gly677Val)
|
|
|
|
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)
|
rs1354756195
|
|
|
NM_000091.5(COL4A3):c.2039G>A (p.Gly680Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
|
NM_000091.5(COL4A3):c.2053C>G (p.Pro685Ala)
|
|
|
|
NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter)
|
rs1574658390
|
|
|
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser)
|
rs761780956
|
|
|
NM_000091.5(COL4A3):c.2092G>A (p.Gly698Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2126-3T>C
|
|
|
|
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)
|
rs1553759430
|
|
|
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)
|
rs2071832975
|
|
|
NM_000091.5(COL4A3):c.2143G>A (p.Gly715Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2155T>C (p.Ser719Pro)
|
|
|
|
NM_000091.5(COL4A3):c.2156C>T (p.Ser719Leu)
|
|
|
|
NM_000091.5(COL4A3):c.2162del (p.Gly721fs)
|
rs1399954090
|
|
|
NM_000091.5(COL4A3):c.2167C>T (p.Pro723Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu)
|
rs2106147306
|
|
|
NM_000091.5(COL4A3):c.2188G>A (p.Gly730Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg)
|
rs2106147444
|
|
|
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu)
|
rs2071838155
|
|
|
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)
|
rs773317939
|
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
|
NM_000091.5(COL4A3):c.2223+1G>A
|
rs1553759476
|
|
|
NM_000091.5(COL4A3):c.2223+5G>A
|
|
|
|
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=)
|
rs1574774667
|
|
|
NM_000091.5(COL4A3):c.222G>A (p.Pro74=)
|
rs187950806
|
|
|
NM_000091.5(COL4A3):c.2257G>C (p.Gly753Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)
|
rs1308023279
|
|
|
NM_000091.5(COL4A3):c.2267G>C (p.Gly756Ala)
|
|
|
|
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)
|
rs2071886531
|
|
|
NM_000091.5(COL4A3):c.227G>T (p.Gly76Val)
|
|
|
|
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg)
|
rs983885088
|
|
|
NM_000091.5(COL4A3):c.2288A>G (p.Asn763Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr)
|
|
|
|
NM_000091.5(COL4A3):c.2296G>A (p.Glu766Lys)
|
|
|
|
NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
|
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)
|
rs2106151987
|
|
|
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)
|
rs2106151987
|
|
|
NM_000091.5(COL4A3):c.2339del (p.Gly780fs)
|
|
|
|
NM_000091.5(COL4A3):c.234+1G>A
|
rs1240838887
|
|
|
NM_000091.5(COL4A3):c.234+1_234+2del
|
|
|
|
NM_000091.5(COL4A3):c.234+1del
|
|
|
|
NM_000091.5(COL4A3):c.2347G>C (p.Gly783Arg)
|
|
|
|
NM_000091.5(COL4A3):c.235-2A>T
|
|
|
|
NM_000091.5(COL4A3):c.2355A>C (p.Glu785Asp)
|
rs2106152150
|
|
|
NM_000091.5(COL4A3):c.236G>A (p.Gly79Asp)
|
|
|
|
NM_000091.5(COL4A3):c.2374+9dup
|
rs1553759691
|
|
|
NM_000091.5(COL4A3):c.2375-18T>C
|
rs1449018778
|
|
|
NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu)
|
rs1283533086
|
|
|
NM_000091.5(COL4A3):c.2390del (p.Pro797fs)
|
|
|
|
NM_000091.5(COL4A3):c.2392G>A (p.Gly798Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
|
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2434G>C (p.Gly812Arg)
|
|
|
|
NM_000091.5(COL4A3):c.245G>T (p.Gly82Val)
|
|
|
|
NM_000091.5(COL4A3):c.2489-12A>T
|
|
|
|
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser)
|
rs2072039168
|
|
|
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)
|
rs779489401
|
|
|
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)
|
rs2072040353
|
|
|
NM_000091.5(COL4A3):c.2507G>T (p.Gly836Val)
|
|
|
|
NM_000091.5(COL4A3):c.2564_2565del (p.Thr855fs)
|
|
|
|
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser)
|
rs1574782666
|
|
|
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)
|
rs1574782666
|
|
|
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
|
|
|
|
NM_000091.5(COL4A3):c.2588A>T (p.His863Leu)
|
|
|
|
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)
|
rs1559897190
|
|
|
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg)
|
rs2106164384
|
|
|
NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu)
|
rs2072046668
|
|
|
NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)
|
|
|
|
NM_000091.5(COL4A3):c.2610G>A (p.Leu870=)
|
rs886039889
|
|
|
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp)
|
rs1402894646
|
|
|
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)
|
rs1553760257
|
|
|
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
|
rs759043857
|
|
|
NM_000091.5(COL4A3):c.2626C>T (p.Pro876Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2629G>A (p.Gly877Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)
|
rs1559897288
|
|
|
NM_000091.5(COL4A3):c.2648G>A (p.Gly883Glu)
|
rs2106164814
|
|
|
NM_000091.5(COL4A3):c.2656+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.2657-13_2657-11del
|
|
|
|
NM_000091.5(COL4A3):c.2657-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2657-1G>C
|
|
|
|
NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val)
|
|
|
|
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp)
|
rs1553760558
|
|
|
NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu)
|
|
|
|
NM_000091.5(COL4A3):c.26C>T (p.Pro9Leu)
|
|
|
|
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2711G>T (p.Gly904Val)
|
rs1174417447
|
|
|
NM_000091.5(COL4A3):c.272G>T (p.Gly91Val)
|
|
|
|
NM_000091.5(COL4A3):c.2746+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.2746+1G>T
|
rs1574786225
|
|
|
NM_000091.5(COL4A3):c.2746+9T>C
|
rs367574148
|
|
|
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)
|
rs200873401
|
|
|
NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val)
|
|
|
|
NM_000091.5(COL4A3):c.275T>A (p.Val92Glu)
|
|
|
|
NM_000091.5(COL4A3):c.275dup (p.Arg93fs)
|
|
|
|
NM_000091.5(COL4A3):c.2765G>A (p.Gly922Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
|
NM_000091.5(COL4A3):c.279+1G>A
|
rs202001097
|
|
|
NM_000091.5(COL4A3):c.279+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.279+1G>T
|
rs202001097
|
|
|
NM_000091.5(COL4A3):c.280-10_280-9del
|
rs768505729
|
|
|
NM_000091.5(COL4A3):c.280-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2806C>A (p.Gln936Lys)
|
|
|
|
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)
|
rs1559899600
|
|
|
NM_000091.5(COL4A3):c.2819G>T (p.Gly940Val)
|
|
|
|
NM_000091.5(COL4A3):c.2827G>C (p.Gly943Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
|
NM_000091.5(COL4A3):c.283A>C (p.Ile95Leu)
|
|
|
|
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
|
|
|
|
NM_000091.5(COL4A3):c.2881+1G>A
|
rs1559899827
|
|
|
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)
|
rs1559904445
|
|
|
NM_000091.5(COL4A3):c.2934A>T (p.Pro978=)
|
rs2106201680
|
|
|
NM_000091.5(COL4A3):c.2945G>A (p.Gly982Asp)
|
|
|
|
NM_000091.5(COL4A3):c.2947C>A (p.Leu983Ile)
|
|
|
|
NM_000091.5(COL4A3):c.294G>C (p.Leu98Phe)
|
|
|
|
NM_000091.5(COL4A3):c.2954G>A (p.Gly985Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2957_2972del (p.Leu986fs)
|
|
|
|
NM_000091.5(COL4A3):c.2962G>C (p.Gly988Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2980+19T>C
|
|
|
|
NM_000091.5(COL4A3):c.2980+2T>G
|
|
|
|
NM_000091.5(COL4A3):c.2981G>A (p.Gly994Asp)
|
rs1574803132
|
|
|
NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs)
|
rs2072585319
|
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
|
NM_000091.5(COL4A3):c.2993A>G (p.Asp998Gly)
|
|
|
|
NM_000091.5(COL4A3):c.3001A>G (p.Ser1001Gly)
|
|
|
|
NM_000091.5(COL4A3):c.3007G>A (p.Gly1003Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs)
|
rs1574803208
|
|
|
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala)
|
rs1204230457
|
|
|
NM_000091.5(COL4A3):c.3035G>A (p.Gly1012Asp)
|
|
|
|
NM_000091.5(COL4A3):c.303_324+18del
|
|
|
|
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)
|
rs121912826
|
|
|
NM_000091.5(COL4A3):c.3059T>C (p.Met1020Thr)
|
|
|
|
NM_000091.5(COL4A3):c.3061G>A (p.Gly1021Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3064A>G (p.Met1022Val)
|
|
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
|
NM_000091.5(COL4A3):c.3070+1G>A
|
rs2106206598
|
|
|
NM_000091.5(COL4A3):c.3071-2A>G
|
|
|
|
NM_000091.5(COL4A3):c.3071G>T (p.Gly1024Val)
|
|
|
|
NM_000091.5(COL4A3):c.3079G>A (p.Gly1027Arg)
|
|
|
|
NM_000091.5(COL4A3):c.308G>A (p.Gly103Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3097G>A (p.Gly1033Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3100T>A (p.Phe1034Ile)
|
|
|
|
NM_000091.5(COL4A3):c.3104C>T (p.Pro1035Leu)
|
|
|
|
NM_000091.5(COL4A3):c.3106G>A (p.Gly1036Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)
|
rs2072647561
|
|
|
NM_000091.5(COL4A3):c.3131C>G (p.Pro1044Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3133G>C (p.Gly1045Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)
|
rs2072649241
|
|
|
NM_000091.5(COL4A3):c.3150G>A (p.Gln1050=)
|
|
|
|
NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala)
|
|
|
|
NM_000091.5(COL4A3):c.317G>T (p.Gly106Val)
|
|
|
|
NM_000091.5(COL4A3):c.3181G>T (p.Gly1061Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3194G>A (p.Gly1065Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
|
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu)
|
rs55849096
|
|
|
NM_000091.5(COL4A3):c.3203G>A (p.Gly1068Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3208A>G (p.Thr1070Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3211-11C>G
|
|
|
|
NM_000091.5(COL4A3):c.3211-1G>T
|
|
|
|
NM_000091.5(COL4A3):c.3211-7A>G
|
rs2106226162
|
|
|
NM_000091.5(COL4A3):c.3224T>G (p.Leu1075Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3230G>A (p.Gly1077Asp)
|
rs1559909384
|
|
|
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly)
|
rs766520935
|
|
|
NM_000091.5(COL4A3):c.324+1G>A
|
rs2125906801
|
|
|
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)
|
rs2106226493
|
|
|
NM_000091.5(COL4A3):c.3244_3247del (p.Lys1082fs)
|
rs1057516204
|
|
|
NM_000091.5(COL4A3):c.3248G>A (p.Gly1083Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3254T>C (p.Met1085Thr)
|
|
|
|
NM_000091.5(COL4A3):c.3256G>A (p.Gly1086Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)
|
rs1574813350
|
|
|
NM_000091.5(COL4A3):c.3266G>A (p.Gly1089Asp)
|
rs1574813382
|
|
|
NM_000091.5(COL4A3):c.3269C>T (p.Pro1090Leu)
|
|
|
|
NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3290C>G (p.Ala1097Gly)
|
|
|
|
NM_000091.5(COL4A3):c.329C>T (p.Thr110Ile)
|
|
|
|
NM_000091.5(COL4A3):c.3300G>C (p.Glu1100Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
|
rs560592940
|
|
|
NM_000091.5(COL4A3):c.3310G>C (p.Gly1104Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3311G>C (p.Gly1104Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
|
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile)
|
rs1574813579
|
|
|
NM_000091.5(COL4A3):c.3324dup (p.Pro1109fs)
|
|
|
|
NM_000091.5(COL4A3):c.3326C>T (p.Pro1109Leu)
|
|
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
|
NM_000091.5(COL4A3):c.3338-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.3342dup (p.Pro1115fs)
|
|
|
|
NM_000091.5(COL4A3):c.3363G>A (p.Leu1121=)
|
|
|
|
NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3386T>C (p.Leu1129Pro)
|
|
|
|
NM_000091.5(COL4A3):c.3391G>A (p.Gly1131Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3395del (p.Pro1132fs)
|
|
|
|
NM_000091.5(COL4A3):c.3409G>A (p.Gly1137Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3409G>C (p.Gly1137Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3416C>T (p.Pro1139Leu)
|
rs1057516186
|
|
|
NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3418G>T (p.Gly1140Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3419-2A>C
|
|
|
|
NM_000091.5(COL4A3):c.3419-4del
|
rs35803812
|
|
|
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
|
|
|
|
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)
|
rs749383170
|
|
|
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp)
|
|
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
|
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)
|
rs774583962
|
|
|
NM_000091.5(COL4A3):c.3463_3464delinsAA (p.Gly1155Asn)
|
|
|
|
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)
|
rs2106235905
|
|
|
NM_000091.5(COL4A3):c.346C>T (p.Pro116Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3475C>T (p.Arg1159Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu)
|
rs2106236091
|
|
|
NM_000091.5(COL4A3):c.3517+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.3520T>G (p.Leu1174Val)
|
|
|
|
NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3539G>T (p.Gly1180Val)
|
|
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
|
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg)
|
rs1305836268
|
|
|
NM_000091.5(COL4A3):c.3566-11C>T
|
|
|
|
NM_000091.5(COL4A3):c.3567A>T (p.Gly1189=)
|
|
|
|
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)
|
rs1574823172
|
|
|
NM_000091.5(COL4A3):c.357del (p.Val120fs)
|
|
|
|
NM_000091.5(COL4A3):c.3580del (p.Arg1194fs)
|
rs1574823188
|
|
|
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)
|
rs753945261
|
|
|
NM_000091.5(COL4A3):c.3598C>T (p.Pro1200Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3606C>T (p.Leu1202=)
|
|
|
|
NM_000091.5(COL4A3):c.3609G>A (p.Pro1203=)
|
|
|
|
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)
|
rs1167411352
|
|
|
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)
|
rs1553764136
|
|
|
NM_000091.5(COL4A3):c.3620G>T (p.Gly1207Val)
|
|
|
|
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu)
|
rs1574823355
|
|
|
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg)
|
rs1229811135
|
|
|
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs)
|
rs764376138
|
|
|
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)
|
rs2073096212
|
|
|
NM_000091.5(COL4A3):c.3674G>A (p.Gly1225Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3682G>A (p.Gly1228Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
|
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3701T>C (p.Ile1234Thr)
|
|
|
|
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg)
|
rs2106247498
|
|
|
NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His)
|
|
|
|
NM_000091.5(COL4A3):c.3733G>C (p.Gly1245Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)
|
|
|
|
NM_000091.5(COL4A3):c.373T>G (p.Cys125Gly)
|
|
|
|
NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)
|
rs761179248
|
|
|
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=)
|
rs112516617
|
|
|
NM_000091.5(COL4A3):c.3780G>T (p.Gly1260=)
|
|
|
|
NM_000091.5(COL4A3):c.3790A>G (p.Ile1264Val)
|
rs1553764410
|
|
|
NM_000091.5(COL4A3):c.3801A>C (p.Lys1267Asn)
|
|
|
|
NM_000091.5(COL4A3):c.3813del (p.Ser1272fs)
|
rs1559914770
|
|
|
NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
|
NM_000091.5(COL4A3):c.3839G>A (p.Gly1280Asp)
|
|
|
|
NM_000091.5(COL4A3):c.384T>C (p.Ser128=)
|
rs2125910138
|
|
|
NM_000091.5(COL4A3):c.3853G>A (p.Ala1285Thr)
|
|
|
|
NM_000091.5(COL4A3):c.3856G>A (p.Gly1286Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3875G>C (p.Gly1292Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3878G>A (p.Arg1293His)
|
|
|
|
NM_000091.5(COL4A3):c.388-10T>C
|
|
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
|
NM_000091.5(COL4A3):c.3882+5G>C
|
|
|
|
NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3920G>A (p.Gly1307Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3925C>T (p.Pro1309Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3943C>T (p.Pro1315Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val)
|
|
|
|
NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)
|
|
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
|
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3965G>A (p.Gly1322Asp)
|
|
|
|
NM_000091.5(COL4A3):c.398G>T (p.Gly133Val)
|
rs750189238
|
|
|
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
|
rs757747350
|
|
|
NM_000091.5(COL4A3):c.4009G>A (p.Gly1337Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu)
|
rs748901402
|
|
|
NM_000091.5(COL4A3):c.4027+1del
|
|
|
|
NM_000091.5(COL4A3):c.4028-15T>C
|
rs764478470
|
|
|
NM_000091.5(COL4A3):c.4028-2A>C
|
|
|
|
NM_000091.5(COL4A3):c.4028-2A>G
|
|
|
|
NM_000091.5(COL4A3):c.4033C>G (p.Arg1345Gly)
|
|
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
|
NM_000091.5(COL4A3):c.4057A>G (p.Ile1353Val)
|
|
|
|
NM_000091.5(COL4A3):c.4061T>C (p.Ile1354Thr)
|
|
|
|
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)
|
rs876657397
|
|
|
NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu)
|
|
|
|
NM_000091.5(COL4A3):c.415G>A (p.Gly139Arg)
|
|
|
|
NM_000091.5(COL4A3):c.416G>A (p.Gly139Glu)
|
rs2125911862
|
|
|
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)
|
|
|
|
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile)
|
|
|
|
NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)
|
rs2073446714
|
|
|
NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter)
|
rs2106283830
|
|
|
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del)
|
|
|
|
NM_000091.5(COL4A3):c.4277C>A (p.Pro1426Gln)
|
|
|
|
NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4289G>T (p.Gly1430Val)
|
|
|
|
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly)
|
rs2106283943
|
|
|
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr)
|
rs2106284049
|
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
|
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)
|
rs748026887
|
|
|
NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter)
|
|
|
|
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)
|
rs2073573869
|
|
|
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)
|
rs570469692
|
|
|
NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4413T>G (p.Phe1471Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4425T>G (p.Phe1475Leu)
|
|
|
|
NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp)
|
|
|
|
NM_000091.5(COL4A3):c.4466C>T (p.Thr1489Ile)
|
|
|
|
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys)
|
rs1057519377
|
|
|
NM_000091.5(COL4A3):c.448del (p.Ala150fs)
|
|
|
|
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)
|
rs1553766363
|
|
|
NM_000091.5(COL4A3):c.4502C>T (p.Pro1501Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs)
|
|
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
|
NM_000091.5(COL4A3):c.4609A>G (p.Thr1537Ala)
|
|
|
|
NM_000091.5(COL4A3):c.4612G>A (p.Gly1538Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4628C>T (p.Pro1543Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4636A>T (p.Ser1546Cys)
|
|
|
|
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter)
|
rs1574842143
|
|
|
NM_000091.5(COL4A3):c.4664C>A (p.Ala1555Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
|
NM_000091.5(COL4A3):c.4669G>A (p.Ala1557Thr)
|
|
|
|
NM_000091.5(COL4A3):c.468+1G>T
|
rs1553751122
|
|
|
NM_000091.5(COL4A3):c.468+1del
|
rs1553751120
|
|
|
NM_000091.5(COL4A3):c.4700T>C (p.Ile1567Thr)
|
|
|
|
NM_000091.5(COL4A3):c.470G>A (p.Gly157Asp)
|
|
|
|
NM_000091.5(COL4A3):c.4795G>T (p.Ala1599Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
|
NM_000091.5(COL4A3):c.4824C>A (p.Phe1608Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
|
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs)
|
rs2073715263
|
|
|
NM_000091.5(COL4A3):c.4847G>A (p.Cys1616Tyr)
|
|
|
|
NM_000091.5(COL4A3):c.4862C>A (p.Thr1621Lys)
|
|
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
|
NM_000091.5(COL4A3):c.4887_4888del (p.Tyr1629_Ser1630delinsTer)
|
|
|
|
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys)
|
rs2106295155
|
|
|
NM_000091.5(COL4A3):c.4939C>T (p.Pro1647Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4958G>A (p.Gly1653Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4989G>C (p.Gln1663His)
|
|
|
|
NM_000091.5(COL4A3):c.5008del (p.His1670fs)
|
|
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
|
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg)
|
rs1574681401
|
|
|
NM_000091.5(COL4A3):c.522dup (p.Leu175fs)
|
rs761358728
|
|
|
NM_000091.5(COL4A3):c.528A>C (p.Pro176=)
|
|
|
|
NM_000091.5(COL4A3):c.529G>A (p.Gly177Arg)
|
|
|
|
NM_000091.5(COL4A3):c.539G>A (p.Gly180Glu)
|
|
|
|
NM_000091.5(COL4A3):c.544C>G (p.Gln182Glu)
|
|
|
|
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs)
|
rs749348004
|
|
|
NM_000091.5(COL4A3):c.576_593del (p.Val194_Pro199del)
|
|
|
|
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)
|
rs749989473
|
|
|
NM_000091.5(COL4A3):c.580_597dup (p.Pro199_Pro200insValGlyProProGlyPro)
|
|
|
|
NM_000091.5(COL4A3):c.583G>A (p.Gly195Ser)
|
rs2125924619
|
|
|
NM_000091.5(COL4A3):c.584G>T (p.Gly195Val)
|
|
|
|
NM_000091.5(COL4A3):c.592G>A (p.Gly198Ser)
|
|
|
|
NM_000091.5(COL4A3):c.593G>T (p.Gly198Val)
|
rs2125924674
|
|
|
NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs)
|
rs2125924714
|
|
|
NM_000091.5(COL4A3):c.602G>A (p.Gly201Glu)
|
|
|
|
NM_000091.5(COL4A3):c.609+2_609+3insTT
|
|
|
|
NM_000091.5(COL4A3):c.610-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.635G>C (p.Arg212Thr)
|
|
|
|
NM_000091.5(COL4A3):c.645+3A>G
|
|
|
|
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)
|
rs1169752185
|
|
|
NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)
|
|
|
|
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
|
|
|
|
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)
|
rs2069900248
|
|
|
NM_000091.5(COL4A3):c.65C>A (p.Ala22Glu)
|
|
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
|
NM_000091.5(COL4A3):c.686G>A (p.Arg229Gln)
|
|
|
|
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu)
|
rs188942711
|
|
|
NM_000091.5(COL4A3):c.687+13C>T
|
|
|
|
NM_000091.5(COL4A3):c.687+1G>T
|
rs2069903710
|
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
|
NM_000091.5(COL4A3):c.689dup
|
|
|
|
NM_000091.5(COL4A3):c.692T>C (p.Val231Ala)
|
|
|
|
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)
|
rs2125932350
|
|
|
NM_000091.5(COL4A3):c.698G>T (p.Gly233Val)
|
|
|
|
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
|
rs2069931154
|
|
|
NM_000091.5(COL4A3):c.713dup (p.Pro240fs)
|
rs988439345
|
|
|
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)
|
rs1574699782
|
|
|
NM_000091.5(COL4A3):c.716dup (p.Pro240fs)
|
|
|
|
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)
|
rs1574699806
|
|
|
NM_000091.5(COL4A3):c.744_765+66del
|
|
|
|
NM_000091.5(COL4A3):c.761G>A (p.Arg254Lys)
|
|
|
|
NM_000091.5(COL4A3):c.761G>C (p.Arg254Thr)
|
|
|
|
NM_000091.5(COL4A3):c.765+3A>G
|
|
|
|
NM_000091.5(COL4A3):c.765G>T (p.Thr255=)
|
rs869025328
|
|
|
NM_000091.5(COL4A3):c.766-2A>T
|
|
|
|
NM_000091.5(COL4A3):c.766-5G>A
|
rs751236477
|
|
|
NM_000091.5(COL4A3):c.766-7T>C
|
rs777532605
|
|
|
NM_000091.5(COL4A3):c.778G>A (p.Glu260Lys)
|
|
|
|
NM_000091.5(COL4A3):c.782del (p.Lys261fs)
|
|
|
|
NM_000091.5(COL4A3):c.802G>A (p.Gly268Ser)
|
|
|
|
NM_000091.5(COL4A3):c.804C>T (p.Gly268=)
|
|
|
|
NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)
|
|
|
|
NM_000091.5(COL4A3):c.821G>A (p.Gly274Glu)
|
|
|
|
NM_000091.5(COL4A3):c.829-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.833dup (p.Pro279fs)
|
rs1363680371
|
|
|
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)
|
rs2070035662
|
|
|
NM_000091.5(COL4A3):c.862G>C (p.Gly288Arg)
|
|
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
|
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)
|
rs2125936494
|
|
|
NM_000091.5(COL4A3):c.888G>A (p.Gln296=)
|
|
|
|
NM_000091.5(COL4A3):c.889-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.917G>T (p.Gly306Val)
|
|
|
|
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)
|
rs1385106410
|
|
|
NM_000091.5(COL4A3):c.934G>A (p.Gly312Arg)
|
|
|
|
NM_000091.5(COL4A3):c.941A>C (p.Lys314Thr)
|
|
|
|
NM_000091.5(COL4A3):c.943G>A (p.Gly315Ser)
|
|
|
|
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp)
|
|
|
|
NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser)
|
|
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
|
NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)
|
|
|
|
NM_000091.5(COL4A3):c.987+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.987G>A (p.Lys329=)
|
|
|
|
NM_000091.5(COL4A3):c.988-5_988delinsAT
|
|
|
|
NM_000091.5(COL4A3):c.997G>C (p.Gly333Arg)
|
|
|
|
NM_000091.5(COL4A3):c.998G>C (p.Gly333Ala)
|
rs1057519376
|
|
|
NM_000092.4(COL4A4):c.1321_1369+3del
|
rs1553676221
|
|
|
NM_000092.5(COL4A4):c.1030-1G>C
|
rs1559620132
|
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
|
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)
|
rs2060340440
|
|
|
NM_000092.5(COL4A4):c.1221_1237del (p.Gly408fs)
|
rs1559606445
|
|
|
NM_000092.5(COL4A4):c.1221del (p.Pro409fs)
|
rs1576457876
|
|
|
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr)
|
rs753659852
|
|
|
NM_000092.5(COL4A4):c.1389del (p.Asn464fs)
|
rs1576428862
|
|
|
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val)
|
rs1559594442
|
|
|
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
|
rs2059732983
|
|
|
NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter)
|
rs768245333
|
|
|
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser)
|
rs1411689737
|
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
|
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp)
|
rs1559563141
|
|
|
NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA
|
rs1576812577
|
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
|
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
|
rs1976595425
|
|
|
NM_000092.5(COL4A4):c.2171del (p.Arg724fs)
|
rs1576207007
|
|
|
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup)
|
rs1553641597
|
|
|
NM_000092.5(COL4A4):c.2969-1G>C
|
rs1553639043
|
|
|
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter)
|
rs1576129421
|
|
|
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala)
|
rs1553638898
|
|
|
NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val)
|
|
|
|
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val)
|
rs1559455617
|
|
|
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser)
|
rs1037084154
|
|
|
NM_000092.5(COL4A4):c.3834dup (p.Gly1279fs)
|
rs1553625684
|
|
|
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp)
|
rs971779449
|
|
|
NM_000092.5(COL4A4):c.3878A>G (p.Asp1293Gly)
|
rs1559450506
|
|
|
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
|
|
|
|
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg)
|
rs1553624029
|
|
|
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys)
|
rs1553622675
|
|
|
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)
|
rs2149745228
|
|
|
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser)
|
rs886055729
|
|
|
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp)
|
rs774471575
|
|
|
NM_000092.5(COL4A4):c.4460_4463dup (p.Trp1488fs)
|
rs1575714693
|
|
|
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys)
|
rs1553613772
|
|
|
NM_000092.5(COL4A4):c.4522+4T>G
|
rs1963375507
|
|
|
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg)
|
rs1222616093
|
|
|
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)
|
rs369922627
|
|
|
NM_000092.5(COL4A4):c.4628_4631del (p.Leu1543fs)
|
rs1575696646
|
|
|
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
|
rs1962599188
|
|
|
NM_000092.5(COL4A4):c.4730_4732del (p.Ala1577del)
|
rs1559395809
|
|
|
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs)
|
rs1206142672
|
|
|
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup)
|
rs1553695272
|
|
|
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs)
|
rs1559394354
|
|
|
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter)
|
rs750345987
|
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
|
NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs)
|
rs1576571835
|
|
|
NM_000092.5(COL4A4):c.693G>A (p.Lys231=)
|
rs1559644463
|
|
|
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
|
rs2060994755
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
|
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)
|
rs2060622881
|
|
|
NM_000092.5(COL4A4):c.903dup (p.Gly302fs)
|
rs1559628183
|
|
|
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val)
|
rs1005389790
|
|
|
NM_033380.3(COL4A5):c.1423+1G>T
|
rs104886312
|
|
|
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp)
|
rs2147849728
|
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|