NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg)
|
rs375318302
|
0.00021
|
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val)
|
rs148781420
|
0.00020
|
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu)
|
rs142177702
|
0.00014
|
NM_001845.6(COL4A1):c.2560A>G (p.Thr854Ala)
|
rs756949024
|
0.00012
|
NM_001845.6(COL4A1):c.4150+3G>A
|
rs545498227
|
0.00009
|
NM_001845.6(COL4A1):c.4755+3A>G
|
rs570472326
|
0.00009
|
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu)
|
rs781249721
|
0.00008
|
NM_001845.6(COL4A1):c.2869+6T>C
|
rs557198622
|
0.00008
|
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)
|
rs199586038
|
0.00008
|
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg)
|
rs144171664
|
0.00008
|
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)
|
rs376607450
|
0.00007
|
NM_001845.6(COL4A1):c.4882G>A (p.Ala1628Thr)
|
rs144201848
|
0.00007
|
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln)
|
rs376673751
|
0.00006
|
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)
|
rs372803920
|
0.00006
|
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)
|
rs375787099
|
0.00006
|
NM_001845.6(COL4A1):c.1246C>G (p.Pro416Ala)
|
rs773191976
|
0.00004
|
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)
|
rs757163211
|
0.00004
|
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)
|
rs752346924
|
0.00004
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00004
|
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)
|
rs189728415
|
0.00004
|
NM_001845.6(COL4A1):c.441C>T (p.Pro147=)
|
rs201812821
|
0.00004
|
NM_001845.6(COL4A1):c.4640+3G>T
|
rs770167198
|
0.00004
|
NM_001845.6(COL4A1):c.56A>T (p.His19Leu)
|
rs1456821193
|
0.00004
|
NM_001845.6(COL4A1):c.858+4A>T
|
rs916106593
|
0.00004
|
NM_001845.6(COL4A1):c.1613G>A (p.Arg538Gln)
|
rs147361934
|
0.00003
|
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala)
|
rs769408707
|
0.00003
|
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)
|
rs778390847
|
0.00003
|
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)
|
rs750620293
|
0.00003
|
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp)
|
rs368949397
|
0.00003
|
NM_001845.6(COL4A1):c.3899T>C (p.Ile1300Thr)
|
rs758276496
|
0.00003
|
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)
|
rs150182714
|
0.00003
|
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)
|
rs773778552
|
0.00002
|
NM_001845.6(COL4A1):c.1804C>T (p.Pro602Ser)
|
rs769247289
|
0.00002
|
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)
|
rs747585517
|
0.00002
|
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly)
|
rs756221734
|
0.00002
|
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys)
|
rs751220553
|
0.00002
|
NM_001845.6(COL4A1):c.1990+4C>T
|
rs771634502
|
0.00002
|
NM_001845.6(COL4A1):c.2232G>T (p.Leu744Phe)
|
rs368539530
|
0.00002
|
NM_001845.6(COL4A1):c.2284G>A (p.Val762Ile)
|
rs775341305
|
0.00002
|
NM_001845.6(COL4A1):c.2968+3A>G
|
rs1455733602
|
0.00002
|
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser)
|
rs373131870
|
0.00002
|
NM_001845.6(COL4A1):c.324C>A (p.Pro108=)
|
rs61759487
|
0.00002
|
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu)
|
rs775810147
|
0.00002
|
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met)
|
rs779139113
|
0.00002
|
NM_001845.6(COL4A1):c.532C>T (p.Pro178Ser)
|
rs777678272
|
0.00002
|
NM_001845.6(COL4A1):c.957+6C>T
|
rs754165294
|
0.00002
|
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)
|
rs755483519
|
0.00001
|
NM_001845.6(COL4A1):c.1142C>T (p.Ala381Val)
|
rs1200679947
|
0.00001
|
NM_001845.6(COL4A1):c.115T>C (p.Cys39Arg)
|
rs1476577463
|
0.00001
|
NM_001845.6(COL4A1):c.1226G>A (p.Arg409Lys)
|
rs747707990
|
0.00001
|
NM_001845.6(COL4A1):c.1238C>T (p.Pro413Leu)
|
rs758969549
|
0.00001
|
NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys)
|
rs199622845
|
0.00001
|
NM_001845.6(COL4A1):c.13C>T (p.Leu5Phe)
|
rs1466736813
|
0.00001
|
NM_001845.6(COL4A1):c.144+6T>G
|
rs1470875848
|
0.00001
|
NM_001845.6(COL4A1):c.1466-8C>T
|
rs370479261
|
0.00001
|
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr)
|
rs1878441079
|
0.00001
|
NM_001845.6(COL4A1):c.1772T>C (p.Val591Ala)
|
rs759892475
|
0.00001
|
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)
|
rs760462654
|
0.00001
|
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg)
|
rs527530568
|
0.00001
|
NM_001845.6(COL4A1):c.2248A>G (p.Ile750Val)
|
rs1199996506
|
0.00001
|
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe)
|
rs755499333
|
0.00001
|
NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu)
|
rs763434858
|
0.00001
|
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val)
|
rs368902134
|
0.00001
|
NM_001845.6(COL4A1):c.2556C>T (p.Gly852=)
|
rs1474061940
|
0.00001
|
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser)
|
rs1055161168
|
0.00001
|
NM_001845.6(COL4A1):c.2695C>T (p.Pro899Ser)
|
rs1430850146
|
0.00001
|
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)
|
rs754208625
|
0.00001
|
NM_001845.6(COL4A1):c.2717-3dup
|
rs748685515
|
0.00001
|
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)
|
rs778143775
|
0.00001
|
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)
|
rs758076661
|
0.00001
|
NM_001845.6(COL4A1):c.3178C>G (p.Pro1060Ala)
|
rs886044336
|
0.00001
|
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser)
|
rs780691085
|
0.00001
|
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val)
|
rs757670001
|
0.00001
|
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile)
|
rs774198019
|
0.00001
|
NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg)
|
rs779129339
|
0.00001
|
NM_001845.6(COL4A1):c.3505+4del
|
rs749942977
|
0.00001
|
NM_001845.6(COL4A1):c.3581C>T (p.Pro1194Leu)
|
rs372606485
|
0.00001
|
NM_001845.6(COL4A1):c.3662C>T (p.Pro1221Leu)
|
rs761859503
|
0.00001
|
NM_001845.6(COL4A1):c.38C>T (p.Pro13Leu)
|
rs1031870898
|
0.00001
|
NM_001845.6(COL4A1):c.3917A>T (p.Asp1306Val)
|
rs1024592088
|
0.00001
|
NM_001845.6(COL4A1):c.4021+3A>G
|
rs778888804
|
0.00001
|
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser)
|
rs148290885
|
0.00001
|
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala)
|
rs1357289362
|
0.00001
|
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)
|
rs760889798
|
0.00001
|
NM_001845.6(COL4A1):c.4333G>A (p.Gly1445Ser)
|
rs752572653
|
0.00001
|
NM_001845.6(COL4A1):c.4388G>A (p.Gly1463Glu)
|
rs1057518459
|
0.00001
|
NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr)
|
rs991189007
|
0.00001
|
NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His)
|
rs775952266
|
0.00001
|
NM_001845.6(COL4A1):c.4462+3A>G
|
rs201116557
|
0.00001
|
NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg)
|
rs759600848
|
0.00001
|
NM_001845.6(COL4A1):c.4756C>T (p.His1586Tyr)
|
rs1876551770
|
0.00001
|
NM_001845.6(COL4A1):c.4769G>C (p.Gly1590Ala)
|
rs778082936
|
0.00001
|
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)
|
rs747250117
|
0.00001
|
NM_001845.6(COL4A1):c.4903A>G (p.Thr1635Ala)
|
rs1876540287
|
0.00001
|
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu)
|
rs201767532
|
0.00001
|
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His)
|
rs756403856
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_001845.6(COL4A1):c.548C>A (p.Thr183Asn)
|
rs926037766
|
0.00001
|
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg)
|
rs370338256
|
0.00001
|
NC_000013.11:g.(?_110150363)_(110307027_?)dup
|
|
|
NC_000013.11:g.(?_110306924)_(110307047_?)dup
|
|
|
NM_001845.6(COL4A1):c.*31G>A
|
|
|
NM_001845.6(COL4A1):c.*31G>C
|
rs2138415342
|
|
NM_001845.6(COL4A1):c.*35del
|
|
|
NM_001845.6(COL4A1):c.1000G>T (p.Val334Phe)
|
|
|
NM_001845.6(COL4A1):c.1010C>T (p.Thr337Ile)
|
|
|
NM_001845.6(COL4A1):c.101C>G (p.Ser34Cys)
|
|
|
NM_001845.6(COL4A1):c.101C>T (p.Ser34Phe)
|
|
|
NM_001845.6(COL4A1):c.1025A>T (p.Glu342Val)
|
|
|
NM_001845.6(COL4A1):c.1034A>T (p.Glu345Val)
|
|
|
NM_001845.6(COL4A1):c.1042T>C (p.Tyr348His)
|
|
|
NM_001845.6(COL4A1):c.1056_1073dup (p.Arg355_Pro360dup)
|
rs2139191527
|
|
NM_001845.6(COL4A1):c.10C>T (p.Arg4Trp)
|
|
|
NM_001845.6(COL4A1):c.1107A>C (p.Gln369His)
|
|
|
NM_001845.6(COL4A1):c.1115C>T (p.Pro372Leu)
|
|
|
NM_001845.6(COL4A1):c.1129G>A (p.Val377Ile)
|
rs2139187481
|
|
NM_001845.6(COL4A1):c.1174G>C (p.Glu392Gln)
|
|
|
NM_001845.6(COL4A1):c.1175A>G (p.Glu392Gly)
|
|
|
NM_001845.6(COL4A1):c.119A>T (p.Asp40Val)
|
|
|
NM_001845.6(COL4A1):c.11G>C (p.Arg4Pro)
|
|
|
NM_001845.6(COL4A1):c.1202C>T (p.Thr401Ile)
|
|
|
NM_001845.6(COL4A1):c.1220G>A (p.Ser407Asn)
|
|
|
NM_001845.6(COL4A1):c.1264C>A (p.Pro422Thr)
|
|
|
NM_001845.6(COL4A1):c.1264C>T (p.Pro422Ser)
|
|
|
NM_001845.6(COL4A1):c.1273C>T (p.Pro425Ser)
|
|
|
NM_001845.6(COL4A1):c.1278C>G (p.Gly426=)
|
rs770791698
|
|
NM_001845.6(COL4A1):c.1279T>G (p.Tyr427Asp)
|
|
|
NM_001845.6(COL4A1):c.1391G>A (p.Gly464Glu)
|
|
|
NM_001845.6(COL4A1):c.1412A>C (p.Asp471Ala)
|
|
|
NM_001845.6(COL4A1):c.1417G>A (p.Asp473Asn)
|
|
|
NM_001845.6(COL4A1):c.1418A>G (p.Asp473Gly)
|
|
|
NM_001845.6(COL4A1):c.1432C>T (p.Pro478Ser)
|
rs2139180090
|
|
NM_001845.6(COL4A1):c.1450C>G (p.Pro484Ala)
|
|
|
NM_001845.6(COL4A1):c.1450C>T (p.Pro484Ser)
|
|
|
NM_001845.6(COL4A1):c.1451C>A (p.Pro484His)
|
|
|
NM_001845.6(COL4A1):c.1453C>T (p.Pro485Ser)
|
rs747214508
|
|
NM_001845.6(COL4A1):c.1463T>C (p.Ile488Thr)
|
|
|
NM_001845.6(COL4A1):c.1465+3A>G
|
|
|
NM_001845.6(COL4A1):c.1466-15T>G
|
|
|
NM_001845.6(COL4A1):c.1466-8C>G
|
rs370479261
|
|
NM_001845.6(COL4A1):c.1481C>G (p.Pro494Arg)
|
|
|
NM_001845.6(COL4A1):c.1486G>T (p.Ala496Ser)
|
|
|
NM_001845.6(COL4A1):c.1487C>G (p.Ala496Gly)
|
rs1377162046
|
|
NM_001845.6(COL4A1):c.14T>C (p.Leu5Pro)
|
|
|
NM_001845.6(COL4A1):c.1522G>A (p.Val508Ile)
|
|
|
NM_001845.6(COL4A1):c.1536+8_1536+9delinsCC
|
|
|
NM_001845.6(COL4A1):c.1536A>G (p.Pro512=)
|
|
|
NM_001845.6(COL4A1):c.1536A>T (p.Pro512=)
|
|
|
NM_001845.6(COL4A1):c.1540C>A (p.Pro514Thr)
|
|
|
NM_001845.6(COL4A1):c.1540C>T (p.Pro514Ser)
|
|
|
NM_001845.6(COL4A1):c.1541C>T (p.Pro514Leu)
|
rs1235407477
|
|
NM_001845.6(COL4A1):c.1545A>G (p.Gln515=)
|
rs144950610
|
|
NM_001845.6(COL4A1):c.1550C>A (p.Thr517Lys)
|
rs1269728194
|
|
NM_001845.6(COL4A1):c.1552C>T (p.Pro518Ser)
|
rs1476264391
|
|
NM_001845.6(COL4A1):c.1561A>G (p.Ile521Val)
|
rs1386647713
|
|
NM_001845.6(COL4A1):c.1588C>G (p.Pro530Ala)
|
rs145172612
|
|
NM_001845.6(COL4A1):c.1606G>A (p.Asp536Asn)
|
|
|
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp)
|
rs397514624
|
|
NM_001845.6(COL4A1):c.1615C>T (p.Leu539Phe)
|
|
|
NM_001845.6(COL4A1):c.1618A>C (p.Lys540Gln)
|
rs1878444055
|
|
NM_001845.6(COL4A1):c.1628A>G (p.Lys543Arg)
|
|
|
NM_001845.6(COL4A1):c.1634A>G (p.Asp545Gly)
|
|
|
NM_001845.6(COL4A1):c.1663C>A (p.Pro555Thr)
|
|
|
NM_001845.6(COL4A1):c.1671A>G (p.Arg557=)
|
|
|
NM_001845.6(COL4A1):c.1689A>C (p.Arg563Ser)
|
|
|
NM_001845.6(COL4A1):c.170A>G (p.Gln57Arg)
|
|
|
NM_001845.6(COL4A1):c.1714C>T (p.Pro572Ser)
|
|
|
NM_001845.6(COL4A1):c.1718A>G (p.Lys573Arg)
|
|
|
NM_001845.6(COL4A1):c.1724C>T (p.Ser575Leu)
|
|
|
NM_001845.6(COL4A1):c.1727C>T (p.Pro576Leu)
|
|
|
NM_001845.6(COL4A1):c.1728+3A>C
|
rs1280449918
|
|
NM_001845.6(COL4A1):c.1752G>T (p.Glu584Asp)
|
rs765423555
|
|
NM_001845.6(COL4A1):c.1759C>G (p.Pro587Ala)
|
|
|
NM_001845.6(COL4A1):c.1759C>T (p.Pro587Ser)
|
|
|
NM_001845.6(COL4A1):c.175G>A (p.Val59Ile)
|
|
|
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys)
|
rs767374916
|
|
NM_001845.6(COL4A1):c.1790G>A (p.Arg597His)
|
rs369724575
|
|
NM_001845.6(COL4A1):c.1796A>G (p.Asp599Gly)
|
|
|
NM_001845.6(COL4A1):c.1819G>C (p.Gly607Arg)
|
rs1555304112
|
|
NM_001845.6(COL4A1):c.1828C>T (p.Pro610Ser)
|
|
|
NM_001845.6(COL4A1):c.1829C>T (p.Pro610Leu)
|
|
|
NM_001845.6(COL4A1):c.1837C>T (p.Pro613Ser)
|
|
|
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)
|
rs146091004
|
|
NM_001845.6(COL4A1):c.1838C>T (p.Pro613Leu)
|
|
|
NM_001845.6(COL4A1):c.1848C>A (p.Asp616Glu)
|
|
|
NM_001845.6(COL4A1):c.1850A>C (p.Lys617Thr)
|
|
|
NM_001845.6(COL4A1):c.1858G>A (p.Ala620Thr)
|
|
|
NM_001845.6(COL4A1):c.1876C>T (p.Pro626Ser)
|
|
|
NM_001845.6(COL4A1):c.1896A>G (p.Pro632=)
|
|
|
NM_001845.6(COL4A1):c.1897+6G>A
|
|
|
NM_001845.6(COL4A1):c.1905G>C (p.Lys635Asn)
|
|
|
NM_001845.6(COL4A1):c.1928C>G (p.Pro643Arg)
|
|
|
NM_001845.6(COL4A1):c.193A>G (p.Met65Val)
|
rs2139207332
|
|
NM_001845.6(COL4A1):c.1940C>G (p.Pro647Arg)
|
|
|
NM_001845.6(COL4A1):c.1942C>G (p.Pro648Ala)
|
|
|
NM_001845.6(COL4A1):c.1949C>G (p.Ala650Gly)
|
|
|
NM_001845.6(COL4A1):c.1949C>T (p.Ala650Val)
|
|
|
NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)
|
|
|
NM_001845.6(COL4A1):c.1979C>A (p.Pro660Gln)
|
|
|
NM_001845.6(COL4A1):c.197A>G (p.Gln66Arg)
|
|
|
NM_001845.6(COL4A1):c.1997G>A (p.Arg666Gln)
|
|
|
NM_001845.6(COL4A1):c.2022G>T (p.Arg674Ser)
|
|
|
NM_001845.6(COL4A1):c.2024C>T (p.Pro675Leu)
|
|
|
NM_001845.6(COL4A1):c.2040G>C (p.Glu680Asp)
|
|
|
NM_001845.6(COL4A1):c.2047G>A (p.Ala683Thr)
|
|
|
NM_001845.6(COL4A1):c.2054G>A (p.Gly685Asp)
|
rs1478344451
|
|
NM_001845.6(COL4A1):c.2065A>G (p.Ile689Val)
|
|
|
NM_001845.6(COL4A1):c.2069G>A (p.Gly690Glu)
|
|
|
NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)
|
|
|
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)
|
rs1878244032
|
|
NM_001845.6(COL4A1):c.2089C>T (p.Pro697Ser)
|
|
|
NM_001845.6(COL4A1):c.2095+5C>T
|
|
|
NM_001845.6(COL4A1):c.2110C>T (p.Pro704Ser)
|
rs1053283710
|
|
NM_001845.6(COL4A1):c.2111C>A (p.Pro704His)
|
|
|
NM_001845.6(COL4A1):c.2121G>A (p.Met707Ile)
|
|
|
NM_001845.6(COL4A1):c.2125C>A (p.Pro709Thr)
|
|
|
NM_001845.6(COL4A1):c.2129C>T (p.Pro710Leu)
|
|
|
NM_001845.6(COL4A1):c.2163A>T (p.Leu721Phe)
|
|
|
NM_001845.6(COL4A1):c.2171A>G (p.Asn724Ser)
|
rs1878139800
|
|
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg)
|
rs1878139161
|
|
NM_001845.6(COL4A1):c.2191A>C (p.Lys731Gln)
|
|
|
NM_001845.6(COL4A1):c.2191A>G (p.Lys731Glu)
|
|
|
NM_001845.6(COL4A1):c.2199G>T (p.Glu733Asp)
|
rs371514041
|
|
NM_001845.6(COL4A1):c.2200C>T (p.Pro734Ser)
|
|
|
NM_001845.6(COL4A1):c.2204G>C (p.Gly735Ala)
|
|
|
NM_001845.6(COL4A1):c.223C>G (p.Pro75Ala)
|
|
|
NM_001845.6(COL4A1):c.2242C>T (p.Pro748Ser)
|
|
|
NM_001845.6(COL4A1):c.2249T>C (p.Ile750Thr)
|
|
|
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg)
|
rs764059421
|
|
NM_001845.6(COL4A1):c.2277C>G (p.Ser759Arg)
|
|
|
NM_001845.6(COL4A1):c.2279T>G (p.Ile760Ser)
|
|
|
NM_001845.6(COL4A1):c.2285T>A (p.Val762Glu)
|
|
|
NM_001845.6(COL4A1):c.2293G>A (p.Val765Ile)
|
|
|
NM_001845.6(COL4A1):c.2312C>T (p.Ala771Val)
|
|
|
NM_001845.6(COL4A1):c.2324C>G (p.Pro775Arg)
|
|
|
NM_001845.6(COL4A1):c.2330T>C (p.Leu777Pro)
|
|
|
NM_001845.6(COL4A1):c.233A>C (p.Lys78Thr)
|
|
|
NM_001845.6(COL4A1):c.2375C>T (p.Ser792Phe)
|
|
|
NM_001845.6(COL4A1):c.2377G>A (p.Val793Met)
|
rs769302846
|
|
NM_001845.6(COL4A1):c.2407C>A (p.Pro803Thr)
|
|
|
NM_001845.6(COL4A1):c.241A>G (p.Thr81Ala)
|
|
|
NM_001845.6(COL4A1):c.2420G>A (p.Arg807Lys)
|
|
|
NM_001845.6(COL4A1):c.2420G>C (p.Arg807Thr)
|
|
|
NM_001845.6(COL4A1):c.2425C>T (p.Pro809Ser)
|
|
|
NM_001845.6(COL4A1):c.2443C>A (p.Pro815Thr)
|
|
|
NM_001845.6(COL4A1):c.2446C>A (p.Pro816Thr)
|
|
|
NM_001845.6(COL4A1):c.2453T>C (p.Leu818Ser)
|
|
|
NM_001845.6(COL4A1):c.2458+5G>A
|
|
|
NM_001845.6(COL4A1):c.2458+5G>C
|
|
|
NM_001845.6(COL4A1):c.2461C>T (p.Pro821Ser)
|
|
|
NM_001845.6(COL4A1):c.2474A>G (p.Lys825Arg)
|
|
|
NM_001845.6(COL4A1):c.2479G>A (p.Glu827Lys)
|
rs2139164381
|
|
NM_001845.6(COL4A1):c.2491C>T (p.Pro831Ser)
|
|
|
NM_001845.6(COL4A1):c.2500C>G (p.Pro834Ala)
|
|
|
NM_001845.6(COL4A1):c.2512A>G (p.Met838Val)
|
rs2139164333
|
|
NM_001845.6(COL4A1):c.2514G>A (p.Met838Ile)
|
|
|
NM_001845.6(COL4A1):c.2521C>T (p.Pro841Ser)
|
|
|
NM_001845.6(COL4A1):c.2522C>G (p.Pro841Arg)
|
|
|
NM_001845.6(COL4A1):c.2539G>A (p.Ala847Thr)
|
|
|
NM_001845.6(COL4A1):c.2551C>T (p.Pro851Ser)
|
|
|
NM_001845.6(COL4A1):c.2561C>T (p.Thr854Met)
|
|
|
NM_001845.6(COL4A1):c.2584C>G (p.Leu862Val)
|
|
|
NM_001845.6(COL4A1):c.2584C>T (p.Leu862Phe)
|
|
|
NM_001845.6(COL4A1):c.2596C>A (p.Gln866Lys)
|
|
|
NM_001845.6(COL4A1):c.2602G>A (p.Ala868Thr)
|
|
|
NM_001845.6(COL4A1):c.2618G>A (p.Gly873Glu)
|
|
|
NM_001845.6(COL4A1):c.2626+5G>C
|
|
|
NM_001845.6(COL4A1):c.2647G>T (p.Val883Phe)
|
|
|
NM_001845.6(COL4A1):c.2657C>T (p.Thr886Ile)
|
rs770887997
|
|
NM_001845.6(COL4A1):c.2675C>T (p.Ser892Leu)
|
|
|
NM_001845.6(COL4A1):c.26TGC[5] (p.Leu12dup)
|
rs773749770
|
|
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.2711A>G (p.Glu904Gly)
|
|
|
NM_001845.6(COL4A1):c.2720A>G (p.Asp907Gly)
|
|
|
NM_001845.6(COL4A1):c.2723A>C (p.His908Pro)
|
|
|
NM_001845.6(COL4A1):c.2723A>G (p.His908Arg)
|
|
|
NM_001845.6(COL4A1):c.2731C>T (p.Pro911Ser)
|
rs926805569
|
|
NM_001845.6(COL4A1):c.2757C>A (p.Asp919Glu)
|
|
|
NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)
|
|
|
NM_001845.6(COL4A1):c.2786T>A (p.Val929Asp)
|
|
|
NM_001845.6(COL4A1):c.280-3C>T
|
|
|
NM_001845.6(COL4A1):c.2836A>T (p.Met946Leu)
|
|
|
NM_001845.6(COL4A1):c.283C>A (p.Pro95Thr)
|
|
|
NM_001845.6(COL4A1):c.2849A>G (p.Lys950Arg)
|
rs2139162983
|
|
NM_001845.6(COL4A1):c.2850A>T (p.Lys950Asn)
|
|
|
NM_001845.6(COL4A1):c.2854G>A (p.Asp952Asn)
|
rs2139162979
|
|
NM_001845.6(COL4A1):c.2870-10T>G
|
rs1877906599
|
|
NM_001845.6(COL4A1):c.287C>T (p.Pro96Leu)
|
|
|
NM_001845.6(COL4A1):c.2882C>T (p.Pro961Leu)
|
|
|
NM_001845.6(COL4A1):c.2884A>C (p.Ile962Leu)
|
|
|
NM_001845.6(COL4A1):c.2893A>C (p.Lys965Gln)
|
rs2139162744
|
|
NM_001845.6(COL4A1):c.2894A>G (p.Lys965Arg)
|
rs2139162743
|
|
NM_001845.6(COL4A1):c.2926G>A (p.Val976Met)
|
rs1020346026
|
|
NM_001845.6(COL4A1):c.2936A>T (p.Lys979Met)
|
|
|
NM_001845.6(COL4A1):c.2940C>A (p.Asp980Glu)
|
|
|
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup)
|
rs2139162654
|
|
NM_001845.6(COL4A1):c.2968+5A>G
|
|
|
NM_001845.6(COL4A1):c.2968+6G>A
|
|
|
NM_001845.6(COL4A1):c.2968+6G>T
|
rs760570181
|
|
NM_001845.6(COL4A1):c.2982T>A (p.Asp994Glu)
|
|
|
NM_001845.6(COL4A1):c.2992A>G (p.Ser998Gly)
|
|
|
NM_001845.6(COL4A1):c.2993G>A (p.Ser998Asn)
|
|
|
NM_001845.6(COL4A1):c.3020C>T (p.Pro1007Leu)
|
|
|
NM_001845.6(COL4A1):c.3037G>A (p.Val1013Ile)
|
|
|
NM_001845.6(COL4A1):c.3056C>G (p.Pro1019Arg)
|
|
|
NM_001845.6(COL4A1):c.3083C>T (p.Pro1028Leu)
|
|
|
NM_001845.6(COL4A1):c.3088A>G (p.Ile1030Val)
|
|
|
NM_001845.6(COL4A1):c.3126C>G (p.Asp1042Glu)
|
|
|
NM_001845.6(COL4A1):c.3152A>G (p.Gln1051Arg)
|
|
|
NM_001845.6(COL4A1):c.3183_3184delinsAG (p.Leu1062Val)
|
|
|
NM_001845.6(COL4A1):c.3203A>T (p.Asp1068Val)
|
|
|
NM_001845.6(COL4A1):c.3205C>G (p.Gln1069Glu)
|
|
|
NM_001845.6(COL4A1):c.3215C>T (p.Ala1072Val)
|
|
|
NM_001845.6(COL4A1):c.3224C>T (p.Pro1075Leu)
|
|
|
NM_001845.6(COL4A1):c.3230G>A (p.Ser1077Asn)
|
|
|
NM_001845.6(COL4A1):c.3259A>G (p.Ile1087Val)
|
|
|
NM_001845.6(COL4A1):c.3276G>A (p.Met1092Ile)
|
|
|
NM_001845.6(COL4A1):c.3313G>T (p.Val1105Phe)
|
|
|
NM_001845.6(COL4A1):c.3326-3T>C
|
|
|
NM_001845.6(COL4A1):c.3327A>G (p.Gly1109=)
|
|
|
NM_001845.6(COL4A1):c.3347A>T (p.Glu1116Val)
|
|
|
NM_001845.6(COL4A1):c.3378T>A (p.Asp1126Glu)
|
|
|
NM_001845.6(COL4A1):c.3395A>G (p.Lys1132Arg)
|
|
|
NM_001845.6(COL4A1):c.3401A>T (p.Glu1134Val)
|
|
|
NM_001845.6(COL4A1):c.3413C>T (p.Pro1138Leu)
|
|
|
NM_001845.6(COL4A1):c.3456G>T (p.Glu1152Asp)
|
rs2139159560
|
|
NM_001845.6(COL4A1):c.3457C>T (p.Pro1153Ser)
|
|
|
NM_001845.6(COL4A1):c.3467A>T (p.Asp1156Val)
|
|
|
NM_001845.6(COL4A1):c.3472A>G (p.Ile1158Val)
|
|
|
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu)
|
rs538816765
|
|
NM_001845.6(COL4A1):c.3481T>A (p.Ser1161Thr)
|
|
|
NM_001845.6(COL4A1):c.3485C>T (p.Ala1162Val)
|
|
|
NM_001845.6(COL4A1):c.3493A>G (p.Lys1165Glu)
|
|
|
NM_001845.6(COL4A1):c.3495G>C (p.Lys1165Asn)
|
|
|
NM_001845.6(COL4A1):c.3502C>T (p.Pro1168Ser)
|
|
|
NM_001845.6(COL4A1):c.3505+4T>G
|
|
|
NM_001845.6(COL4A1):c.3506-20A>G
|
|
|
NM_001845.6(COL4A1):c.3509T>C (p.Leu1170Pro)
|
|
|
NM_001845.6(COL4A1):c.3520G>A (p.Gly1174Arg)
|
|
|
NM_001845.6(COL4A1):c.3521G>A (p.Gly1174Glu)
|
|
|
NM_001845.6(COL4A1):c.3536C>G (p.Pro1179Arg)
|
|
|
NM_001845.6(COL4A1):c.3557-3C>G
|
|
|
NM_001845.6(COL4A1):c.3572T>G (p.Val1191Gly)
|
|
|
NM_001845.6(COL4A1):c.3589G>C (p.Ala1197Pro)
|
|
|
NM_001845.6(COL4A1):c.358C>G (p.Pro120Ala)
|
|
|
NM_001845.6(COL4A1):c.3596G>A (p.Ser1199Asn)
|
|
|
NM_001845.6(COL4A1):c.3635T>A (p.Met1212Lys)
|
|
|
NM_001845.6(COL4A1):c.3641C>T (p.Pro1214Leu)
|
|
|
NM_001845.6(COL4A1):c.3644C>T (p.Pro1215Leu)
|
|
|
NM_001845.6(COL4A1):c.3667T>A (p.Leu1223Ile)
|
|
|
NM_001845.6(COL4A1):c.3677C>A (p.Ser1226Tyr)
|
|
|
NM_001845.6(COL4A1):c.3685C>T (p.His1229Tyr)
|
rs745478987
|
|
NM_001845.6(COL4A1):c.3686A>G (p.His1229Arg)
|
|
|
NM_001845.6(COL4A1):c.3689C>G (p.Ala1230Gly)
|
|
|
NM_001845.6(COL4A1):c.3692C>T (p.Thr1231Met)
|
|
|
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)
|
rs1348341976
|
|
NM_001845.6(COL4A1):c.3731C>G (p.Pro1244Arg)
|
|
|
NM_001845.6(COL4A1):c.3740C>T (p.Pro1247Leu)
|
|
|
NM_001845.6(COL4A1):c.3748C>T (p.Pro1250Ser)
|
|
|
NM_001845.6(COL4A1):c.3749C>T (p.Pro1250Leu)
|
|
|
NM_001845.6(COL4A1):c.3762_3763delinsTT (p.Pro1255Ser)
|
|
|
NM_001845.6(COL4A1):c.377A>G (p.Asn126Ser)
|
|
|
NM_001845.6(COL4A1):c.3810T>A (p.Asn1270Lys)
|
|
|
NM_001845.6(COL4A1):c.3812C>T (p.Pro1271Leu)
|
|
|
NM_001845.6(COL4A1):c.3820C>T (p.Pro1274Ser)
|
|
|
NM_001845.6(COL4A1):c.3830C>T (p.Pro1277Leu)
|
|
|
NM_001845.6(COL4A1):c.3857C>A (p.Pro1286His)
|
rs1064795795
|
|
NM_001845.6(COL4A1):c.3877-10_3877-9delinsTT
|
|
|
NM_001845.6(COL4A1):c.3877-9_3877-8delinsTA
|
|
|
NM_001845.6(COL4A1):c.388-14T>G
|
|
|
NM_001845.6(COL4A1):c.3934G>A (p.Val1312Ile)
|
|
|
NM_001845.6(COL4A1):c.394A>G (p.Arg132Gly)
|
|
|
NM_001845.6(COL4A1):c.3952C>T (p.Pro1318Ser)
|
rs1877334157
|
|
NM_001845.6(COL4A1):c.3955A>C (p.Lys1319Gln)
|
|
|
NM_001845.6(COL4A1):c.3992A>G (p.Gln1331Arg)
|
|
|
NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)
|
|
|
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
|
|
|
NM_001845.6(COL4A1):c.4007T>C (p.Val1336Ala)
|
|
|
NM_001845.6(COL4A1):c.4022-3C>T
|
|
|
NM_001845.6(COL4A1):c.4028C>T (p.Pro1343Leu)
|
|
|
NM_001845.6(COL4A1):c.4036C>T (p.Pro1346Ser)
|
|
|
NM_001845.6(COL4A1):c.4055A>G (p.Tyr1352Cys)
|
|
|
NM_001845.6(COL4A1):c.4057G>A (p.Asp1353Asn)
|
|
|
NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)
|
|
|
NM_001845.6(COL4A1):c.4067A>G (p.Lys1356Arg)
|
|
|
NM_001845.6(COL4A1):c.4084C>T (p.Pro1362Ser)
|
|
|
NM_001845.6(COL4A1):c.4121A>C (p.Gln1374Pro)
|
|
|
NM_001845.6(COL4A1):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_001845.6(COL4A1):c.4144C>G (p.Gln1382Glu)
|
|
|
NM_001845.6(COL4A1):c.4146G>C (p.Gln1382His)
|
|
|
NM_001845.6(COL4A1):c.4153G>A (p.Val1385Ile)
|
|
|
NM_001845.6(COL4A1):c.4173A>G (p.Ile1391Met)
|
rs1414773161
|
|
NM_001845.6(COL4A1):c.4190T>A (p.Ile1397Asn)
|
|
|
NM_001845.6(COL4A1):c.4208C>T (p.Ala1403Val)
|
|
|
NM_001845.6(COL4A1):c.4237G>A (p.Ala1413Thr)
|
|
|
NM_001845.6(COL4A1):c.4249+4G>C
|
|
|
NM_001845.6(COL4A1):c.4252C>T (p.Pro1418Ser)
|
|
|
NM_001845.6(COL4A1):c.4256G>A (p.Arg1419Lys)
|
|
|
NM_001845.6(COL4A1):c.4273C>T (p.Pro1425Ser)
|
|
|
NM_001845.6(COL4A1):c.4282G>A (p.Asp1428Asn)
|
|
|
NM_001845.6(COL4A1):c.4282G>T (p.Asp1428Tyr)
|
|
|
NM_001845.6(COL4A1):c.4290G>C (p.Leu1430Phe)
|
|
|
NM_001845.6(COL4A1):c.4306C>G (p.Pro1436Ala)
|
|
|
NM_001845.6(COL4A1):c.430G>T (p.Ala144Ser)
|
rs778175625
|
|
NM_001845.6(COL4A1):c.4327G>C (p.Asp1443His)
|
|
|
NM_001845.6(COL4A1):c.4363A>G (p.Ile1455Val)
|
|
|
NM_001845.6(COL4A1):c.4372C>T (p.Pro1458Ser)
|
|
|
NM_001845.6(COL4A1):c.4394A>G (p.Lys1465Arg)
|
|
|
NM_001845.6(COL4A1):c.4399C>G (p.Leu1467Val)
|
|
|
NM_001845.6(COL4A1):c.4409G>A (p.Gly1470Glu)
|
rs2139146120
|
|
NM_001845.6(COL4A1):c.4409G>C (p.Gly1470Ala)
|
rs2139146120
|
|
NM_001845.6(COL4A1):c.4411T>C (p.Tyr1471His)
|
|
|
NM_001845.6(COL4A1):c.441C>G (p.Pro147=)
|
|
|
NM_001845.6(COL4A1):c.4424A>T (p.Tyr1475Phe)
|
rs2139146108
|
|
NM_001845.6(COL4A1):c.4426G>A (p.Val1476Met)
|
|
|
NM_001845.6(COL4A1):c.4462+4A>G
|
rs2139146049
|
|
NM_001845.6(COL4A1):c.4469C>T (p.Ala1490Val)
|
|
|
NM_001845.6(COL4A1):c.4471G>A (p.Gly1491Ser)
|
|
|
NM_001845.6(COL4A1):c.4471G>T (p.Gly1491Cys)
|
|
|
NM_001845.6(COL4A1):c.4481T>A (p.Leu1494Gln)
|
|
|
NM_001845.6(COL4A1):c.4483C>T (p.Arg1495Cys)
|
|
|
NM_001845.6(COL4A1):c.4484G>A (p.Arg1495His)
|
|
|
NM_001845.6(COL4A1):c.4494C>G (p.Ser1498Arg)
|
|
|
NM_001845.6(COL4A1):c.44C>T (p.Ala15Val)
|
|
|
NM_001845.6(COL4A1):c.4517A>G (p.Asn1506Ser)
|
|
|
NM_001845.6(COL4A1):c.4524C>A (p.Asn1508Lys)
|
|
|
NM_001845.6(COL4A1):c.4544C>T (p.Ser1515Leu)
|
|
|
NM_001845.6(COL4A1):c.4573A>G (p.Thr1525Ala)
|
rs2138427724
|
|
NM_001845.6(COL4A1):c.4582C>T (p.Pro1528Ser)
|
|
|
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu)
|
rs1085307967
|
|
NM_001845.6(COL4A1):c.4585A>G (p.Met1529Val)
|
|
|
NM_001845.6(COL4A1):c.4586T>A (p.Met1529Lys)
|
|
|
NM_001845.6(COL4A1):c.4588C>T (p.Pro1530Ser)
|
|
|
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)
|
rs1343193102
|
|
NM_001845.6(COL4A1):c.4593G>A (p.Met1531Ile)
|
|
|
NM_001845.6(COL4A1):c.4594T>G (p.Ser1532Ala)
|
|
|
NM_001845.6(COL4A1):c.4610C>T (p.Thr1537Met)
|
|
|
NM_001845.6(COL4A1):c.4621A>G (p.Ile1541Val)
|
|
|
NM_001845.6(COL4A1):c.4625G>A (p.Arg1542Lys)
|
|
|
NM_001845.6(COL4A1):c.4630T>C (p.Phe1544Leu)
|
rs2138427595
|
|
NM_001845.6(COL4A1):c.463A>G (p.Met155Val)
|
|
|
NM_001845.6(COL4A1):c.4640+4A>G
|
|
|
NM_001845.6(COL4A1):c.464T>C (p.Met155Thr)
|
|
|
NM_001845.6(COL4A1):c.4667T>A (p.Met1556Lys)
|
|
|
NM_001845.6(COL4A1):c.4674G>A (p.Met1558Ile)
|
|
|
NM_001845.6(COL4A1):c.4678G>A (p.Val1560Met)
|
|
|
NM_001845.6(COL4A1):c.467A>C (p.Lys156Thr)
|
|
|
NM_001845.6(COL4A1):c.468+4C>G
|
|
|
NM_001845.6(COL4A1):c.468+5A>G
|
|
|
NM_001845.6(COL4A1):c.4693A>G (p.Ile1565Val)
|
|
|
NM_001845.6(COL4A1):c.469G>A (p.Gly157Ser)
|
|
|
NM_001845.6(COL4A1):c.46C>G (p.Leu16Val)
|
|
|
NM_001845.6(COL4A1):c.4711C>T (p.Pro1571Ser)
|
|
|
NM_001845.6(COL4A1):c.4718G>C (p.Gly1573Ala)
|
|
|
NM_001845.6(COL4A1):c.4724C>T (p.Ser1575Phe)
|
|
|
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
|
|
|
NM_001845.6(COL4A1):c.4749T>G (p.Phe1583Leu)
|
|
|
NM_001845.6(COL4A1):c.474T>G (p.Asp158Glu)
|
|
|
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu)
|
rs1566332829
|
|
NM_001845.6(COL4A1):c.4765G>A (p.Ala1589Thr)
|
|
|
NM_001845.6(COL4A1):c.4778G>C (p.Gly1593Ala)
|
|
|
NM_001845.6(COL4A1):c.4778G>T (p.Gly1593Val)
|
|
|
NM_001845.6(COL4A1):c.4795G>A (p.Ala1599Thr)
|
|
|
NM_001845.6(COL4A1):c.4801C>G (p.Pro1601Ala)
|
rs1174157767
|
|
NM_001845.6(COL4A1):c.481G>A (p.Glu161Lys)
|
rs1447711802
|
|
NM_001845.6(COL4A1):c.4832C>T (p.Ala1611Val)
|
|
|
NM_001845.6(COL4A1):c.483G>T (p.Glu161Asp)
|
|
|
NM_001845.6(COL4A1):c.4855C>T (p.Arg1619Cys)
|
|
|
NM_001845.6(COL4A1):c.4862C>A (p.Thr1621Asn)
|
|
|
NM_001845.6(COL4A1):c.4870T>C (p.Tyr1624His)
|
|
|
NM_001845.6(COL4A1):c.4877C>G (p.Ala1626Gly)
|
|
|
NM_001845.6(COL4A1):c.4900G>A (p.Ala1634Thr)
|
|
|
NM_001845.6(COL4A1):c.4906A>G (p.Ile1636Val)
|
|
|
NM_001845.6(COL4A1):c.4907T>C (p.Ile1636Thr)
|
|
|
NM_001845.6(COL4A1):c.4917C>A (p.Ser1639Arg)
|
|
|
NM_001845.6(COL4A1):c.4918G>A (p.Glu1640Lys)
|
|
|
NM_001845.6(COL4A1):c.4918G>T (p.Glu1640Ter)
|
|
|
NM_001845.6(COL4A1):c.4923G>A (p.Met1641Ile)
|
|
|
NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)
|
|
|
NM_001845.6(COL4A1):c.4927A>G (p.Lys1643Glu)
|
|
|
NM_001845.6(COL4A1):c.4928+2T>C
|
rs2138417443
|
|
NM_001845.6(COL4A1):c.4929G>A (p.Lys1643=)
|
|
|
NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)
|
|
|
NM_001845.6(COL4A1):c.4957G>C (p.Gly1653Arg)
|
|
|
NM_001845.6(COL4A1):c.495T>A (p.His165Gln)
|
rs762125888
|
|
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys)
|
rs377350886
|
|
NM_001845.6(COL4A1):c.4972C>T (p.His1658Tyr)
|
|
|
NM_001845.6(COL4A1):c.4975G>A (p.Val1659Ile)
|
|
|
NM_001845.6(COL4A1):c.4975G>C (p.Val1659Leu)
|
|
|
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)
|
rs1555300086
|
|
NM_001845.6(COL4A1):c.4982G>A (p.Arg1661His)
|
|
|
NM_001845.6(COL4A1):c.4984T>C (p.Cys1662Arg)
|
rs2138415394
|
|
NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val)
|
rs1301142454
|
|
NM_001845.6(COL4A1):c.4998G>A (p.Met1666Ile)
|
|
|
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del)
|
rs1294802953
|
|
NM_001845.6(COL4A1):c.5003G>A (p.Arg1668Lys)
|
|
|
NM_001845.6(COL4A1):c.5003G>C (p.Arg1668Thr)
|
|
|
NM_001845.6(COL4A1):c.518G>C (p.Gly173Ala)
|
|
|
NM_001845.6(COL4A1):c.525A>C (p.Arg175Ser)
|
|
|
NM_001845.6(COL4A1):c.551C>T (p.Pro184Leu)
|
|
|
NM_001845.6(COL4A1):c.553-3T>C
|
|
|
NM_001845.6(COL4A1):c.557C>T (p.Pro186Leu)
|
|
|
NM_001845.6(COL4A1):c.559C>A (p.Pro187Thr)
|
rs1064795868
|
|
NM_001845.6(COL4A1):c.586G>C (p.Val196Leu)
|
|
|
NM_001845.6(COL4A1):c.5G>A (p.Gly2Glu)
|
|
|
NM_001845.6(COL4A1):c.614C>T (p.Pro205Leu)
|
|
|
NM_001845.6(COL4A1):c.616-11_616-10delinsCG
|
|
|
NM_001845.6(COL4A1):c.619C>T (p.Pro207Ser)
|
|
|
NM_001845.6(COL4A1):c.631C>T (p.Pro211Ser)
|
|
|
NM_001845.6(COL4A1):c.64C>T (p.His22Tyr)
|
|
|
NM_001845.6(COL4A1):c.652-6C>G
|
|
|
NM_001845.6(COL4A1):c.674A>G (p.Gln225Arg)
|
rs2139200708
|
|
NM_001845.6(COL4A1):c.679C>T (p.Pro227Ser)
|
|
|
NM_001845.6(COL4A1):c.67A>G (p.Ser23Gly)
|
|
|
NM_001845.6(COL4A1):c.692A>T (p.Lys231Met)
|
|
|
NM_001845.6(COL4A1):c.706G>A (p.Val236Ile)
|
|
|
NM_001845.6(COL4A1):c.70C>G (p.Arg24Gly)
|
|
|
NM_001845.6(COL4A1):c.70C>T (p.Arg24Trp)
|
|
|
NM_001845.6(COL4A1):c.71G>C (p.Arg24Pro)
|
|
|
NM_001845.6(COL4A1):c.74C>G (p.Ala25Gly)
|
|
|
NM_001845.6(COL4A1):c.761T>C (p.Phe254Ser)
|
|
|
NM_001845.6(COL4A1):c.763G>A (p.Ala255Thr)
|
|
|
NM_001845.6(COL4A1):c.781-6T>A
|
|
|
NM_001845.6(COL4A1):c.7C>T (p.Pro3Ser)
|
|
|
NM_001845.6(COL4A1):c.803T>A (p.Phe268Tyr)
|
rs2139198460
|
|
NM_001845.6(COL4A1):c.813G>A (p.Met271Ile)
|
|
|
NM_001845.6(COL4A1):c.814C>T (p.Pro272Ser)
|
|
|
NM_001845.6(COL4A1):c.818G>C (p.Gly273Ala)
|
|
|
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
|
|
|
NM_001845.6(COL4A1):c.829A>G (p.Lys277Glu)
|
|
|
NM_001845.6(COL4A1):c.838C>T (p.Pro280Ser)
|
|
|
NM_001845.6(COL4A1):c.857G>C (p.Arg286Thr)
|
|
|
NM_001845.6(COL4A1):c.903+18_903+19delinsAG
|
|
|
NM_001845.6(COL4A1):c.903+23_903+24insTTCTCTGTGGTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTTCTGGCGCCCGCCAATACGCCCGGCTTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
|
|
|
NM_001845.6(COL4A1):c.904-6T>A
|
|
|
NM_001845.6(COL4A1):c.919C>T (p.Pro307Ser)
|
|
|
NM_001845.6(COL4A1):c.928C>A (p.Pro310Thr)
|
|
|
NM_001845.6(COL4A1):c.92G>T (p.Cys31Phe)
|
|
|
NM_001845.6(COL4A1):c.944G>A (p.Arg315His)
|
|
|
NM_001845.6(COL4A1):c.944G>T (p.Arg315Leu)
|
rs768184025
|
|
NM_001845.6(COL4A1):c.961G>A (p.Glu321Lys)
|
rs2139194019
|
|
NM_001845.6(COL4A1):c.970G>A (p.Glu324Lys)
|
|
|
NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)
|
|
|
NM_001845.6(COL4A1):c.97G>T (p.Gly33Cys)
|
|
|
NM_001845.6(COL4A1):c.989C>T (p.Pro330Leu)
|
|
|
NM_001845.6(COL4A1):c.98G>C (p.Gly33Ala)
|
|
|
NM_001845.6(COL4A1):c.997A>G (p.Ile333Val)
|
|
|