NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg)
|
rs899227425
|
0.00003
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_033380.3(COL4A5):c.231+2T>C
|
rs763538451
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
0.00001
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
0.00001
|
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
|
rs776036994
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>T
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val)
|
rs2061040474
|
0.00001
|
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)
|
rs760795817
|
0.00001
|
NM_000092.5(COL4A4):c.975+1G>A
|
rs1553683192
|
0.00001
|
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
|
|
|
NM_000091.5(COL4A3):c.1114+1G>A
|
rs1286895614
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)
|
rs2125981235
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
NM_000091.5(COL4A3):c.234+1G>A
|
rs1240838887
|
|
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
|
rs759043857
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
NM_000091.5(COL4A3):c.3070+1G>A
|
rs2106206598
|
|
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)
|
rs2072649241
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)
|
rs774583962
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)
|
rs2069900248
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)
|
rs1203564054
|
|
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs)
|
rs2150596830
|
|
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)
|
rs2150595867
|
|
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val)
|
rs2150595484
|
|
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp)
|
rs2059360185
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1697-1G>A
|
rs1559569975
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.2969-1G>C
|
rs1553639043
|
|
NM_000092.5(COL4A4):c.3214+1G>A
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3289+1G>C
|
rs1973128133
|
|
NM_000092.5(COL4A4):c.3973+1G>T
|
rs755478262
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs)
|
rs2149722718
|
|
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)
|
rs2149721718
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)
|
rs2149720724
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)
|
rs2060994526
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1339+1G>A
|
rs878853114
|
|
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg)
|
rs2147809070
|
|
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp)
|
rs2147810410
|
|
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val)
|
rs104886143
|
|
NM_033380.3(COL4A5):c.2042-2A>G
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)
|
rs878853089
|
|
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg)
|
rs2147865597
|
|
NM_033380.3(COL4A5):c.3016+2T>C
|
rs2147869403
|
|
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val)
|
rs1603298993
|
|
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)
|
rs1603306716
|
|
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg)
|
rs2147935344
|
|
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)
|
rs281874713
|
|
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)
|
rs1569505374
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg)
|
rs2147953060
|
|
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)
|
rs1060499710
|
|
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs)
|
rs2147956419
|
|
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser)
|
rs2147959471
|
|
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs)
|
rs1569507535
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp)
|
rs2147991184
|
|
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser)
|
rs104886279
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)
|
rs104886424
|
|
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)
|
rs2068718016
|
|
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr)
|
rs2148003771
|
|
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)
|
rs1556404027
|
|
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg)
|
rs1569490379
|
|
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg)
|
rs267606310
|
|
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)
|
rs1569490592
|
|
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)
|
rs2147776175
|
|
NM_033380.3(COL4A5):c.891+1G>T
|
rs104886451
|
|
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser)
|
rs2147777425
|
|
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp)
|
rs2147657533
|
|
NM_033380.3(COL4A5):c.935del (p.Pro312fs)
|
rs1556407078
|
|