ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 547
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HGVS dbSNP gnomAD frequency
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)

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