ClinVar Miner

List of variants in gene COL4A2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 402
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001846.4(COL4A2):c.99+4A>G rs200428476 0.00029
NM_001846.4(COL4A2):c.608A>T (p.His203Leu) rs201716258 0.00024
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299 0.00016
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304 0.00013
NM_001846.4(COL4A2):c.3346+5G>A rs373295648 0.00012
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119 0.00012
NM_001846.4(COL4A2):c.1978+4T>C rs372577230 0.00011
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser) rs761169216 0.00008
NM_001846.4(COL4A2):c.4286-12G>A rs553663121 0.00008
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg) rs200314049 0.00007
NM_001846.4(COL4A2):c.4673C>T (p.Ala1558Val) rs374790851 0.00007
NM_001846.4(COL4A2):c.1465G>A (p.Asp489Asn) rs777186602 0.00006
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr) rs199875726 0.00006
NM_001846.4(COL4A2):c.4712C>T (p.Ala1571Val) rs201300563 0.00006
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=) rs775257372 0.00006
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln) rs201640075 0.00006
NM_001846.4(COL4A2):c.2587+5G>C rs756405925 0.00005
NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu) rs749501904 0.00005
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser) rs773783775 0.00004
NM_001846.4(COL4A2):c.1720G>A (p.Asp574Asn) rs751105211 0.00004
NM_001846.4(COL4A2):c.2395C>T (p.Pro799Ser) rs376694121 0.00004
NM_001846.4(COL4A2):c.2581C>T (p.Arg861Cys) rs751658527 0.00004
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys) rs199678709 0.00004
NM_001846.4(COL4A2):c.4247C>T (p.Pro1416Leu) rs776279146 0.00004
NM_001846.4(COL4A2):c.164C>T (p.Pro55Leu) rs1011806709 0.00003
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) rs780116763 0.00003
NM_001846.4(COL4A2):c.2530C>T (p.Pro844Ser) rs763705148 0.00003
NM_001846.4(COL4A2):c.3297A>C (p.Leu1099Phe) rs779464248 0.00003
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu) rs201158095 0.00003
NM_001846.4(COL4A2):c.4678C>T (p.Arg1560Trp) rs1353098387 0.00003
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser) rs373806617 0.00003
NM_001846.4(COL4A2):c.5042A>G (p.Glu1681Gly) rs777905652 0.00003
NM_001846.4(COL4A2):c.-44-1G>C rs373395207 0.00002
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro) rs909040713 0.00002
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg) rs768662646 0.00002
NM_001846.4(COL4A2):c.360+1G>A rs759305120 0.00002
NM_001846.4(COL4A2):c.4268G>C (p.Gly1423Ala) rs759437629 0.00002
NM_001846.4(COL4A2):c.4403-8G>A rs1271522986 0.00002
NM_001846.4(COL4A2):c.4744G>A (p.Glu1582Lys) rs376636910 0.00002
NM_001846.4(COL4A2):c.4951C>T (p.Arg1651Cys) rs569071842 0.00002
NM_001846.4(COL4A2):c.5066C>T (p.Ser1689Phe) rs761162868 0.00002
NM_001846.4(COL4A2):c.5075C>T (p.Thr1692Met) rs759315132 0.00002
NM_001846.4(COL4A2):c.733G>A (p.Val245Ile) rs371879428 0.00002
NM_001846.4(COL4A2):c.1012-1G>A rs1224451609 0.00001
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu) rs746749693 0.00001
NM_001846.4(COL4A2):c.1135G>A (p.Glu379Lys) rs1178832851 0.00001
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg) rs779091629 0.00001
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001846.4(COL4A2):c.1879G>A (p.Gly627Ser) rs771559117 0.00001
NM_001846.4(COL4A2):c.1912G>A (p.Ala638Thr) rs758260445 0.00001
NM_001846.4(COL4A2):c.1979-2A>C rs772735682 0.00001
NM_001846.4(COL4A2):c.2095+5T>C rs376823280 0.00001
NM_001846.4(COL4A2):c.2176G>C (p.Gly726Arg) rs770946467 0.00001
NM_001846.4(COL4A2):c.2326G>C (p.Val776Leu) rs1882540552 0.00001
NM_001846.4(COL4A2):c.2546A>C (p.Gln849Pro) rs761477697 0.00001
NM_001846.4(COL4A2):c.2698C>T (p.His900Tyr) rs367545580 0.00001
NM_001846.4(COL4A2):c.2705G>C (p.Gly902Ala) rs1388143812 0.00001
NM_001846.4(COL4A2):c.2781G>A (p.Met927Ile) rs765543373 0.00001
NM_001846.4(COL4A2):c.2864C>T (p.Pro955Leu) rs775430349 0.00001
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) rs772439696 0.00001
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp) rs200165414 0.00001
NM_001846.4(COL4A2):c.323G>C (p.Arg108Thr) rs1283852136 0.00001
NM_001846.4(COL4A2):c.3431C>T (p.Pro1144Leu) rs1407273074 0.00001
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser) rs1271683445 0.00001
NM_001846.4(COL4A2):c.3689A>G (p.Asp1230Gly) rs1883424275 0.00001
NM_001846.4(COL4A2):c.3760+225C>T rs375545555 0.00001
NM_001846.4(COL4A2):c.3760+5G>A rs1883426997 0.00001
NM_001846.4(COL4A2):c.3817C>G (p.Pro1273Ala) rs201442362 0.00001
NM_001846.4(COL4A2):c.3818C>A (p.Pro1273His) rs928407150 0.00001
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser) rs975120661 0.00001
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn) rs369865437 0.00001
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn) rs368612819 0.00001
NM_001846.4(COL4A2):c.4679G>A (p.Arg1560Gln) rs1411209661 0.00001
NM_001846.4(COL4A2):c.4732G>A (p.Val1578Met) rs376052562 0.00001
NM_001846.4(COL4A2):c.4738G>A (p.Glu1580Lys) rs767665017 0.00001
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769 0.00001
NM_001846.4(COL4A2):c.4864G>A (p.Gly1622Arg) rs541766007 0.00001
NM_001846.4(COL4A2):c.5018G>C (p.Ser1673Thr) rs754784235 0.00001
NM_001846.4(COL4A2):c.5110C>T (p.Arg1704Cys) rs780380833 0.00001
NM_001846.4(COL4A2):c.535C>T (p.Arg179Cys) rs751015466 0.00001
NM_001846.4(COL4A2):c.610G>A (p.Val204Met) rs959464417 0.00001
NM_001846.4(COL4A2):c.664C>T (p.Pro222Ser) rs1311495152 0.00001
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp) rs372917662 0.00001
NM_001846.4(COL4A2):c.82G>A (p.Ala28Thr) rs1338618226 0.00001
NM_001846.4(COL4A2):c.849A>C (p.Glu283Asp) rs1880961913 0.00001
NC_000013.10:g.(?_111098156)_(111111301_?)del
NM_001846.4(COL4A2):c.1001G>A (p.Arg334Gln)
NM_001846.4(COL4A2):c.1011+3G>A
NM_001846.4(COL4A2):c.1011+6C>T rs1881302554
NM_001846.4(COL4A2):c.1021G>A (p.Gly341Arg) rs1475888052
NM_001846.4(COL4A2):c.1029A>T (p.Pro343=)
NM_001846.4(COL4A2):c.103G>A (p.Val35Met)
NM_001846.4(COL4A2):c.1060C>T (p.His354Tyr)
NM_001846.4(COL4A2):c.1062C>G (p.His354Gln)
NM_001846.4(COL4A2):c.1079-3C>T
NM_001846.4(COL4A2):c.1091A>T (p.Asp364Val)
NM_001846.4(COL4A2):c.109A>C (p.Lys37Gln)
NM_001846.4(COL4A2):c.111G>C (p.Lys37Asn)
NM_001846.4(COL4A2):c.1148C>T (p.Pro383Leu)
NM_001846.4(COL4A2):c.1159G>T (p.Gly387Cys)
NM_001846.4(COL4A2):c.1162C>T (p.Pro388Ser)
NM_001846.4(COL4A2):c.1180G>A (p.Gly394Arg)
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912
NM_001846.4(COL4A2):c.1216A>G (p.Met406Val)
NM_001846.4(COL4A2):c.1223C>G (p.Pro408Arg)
NM_001846.4(COL4A2):c.1241A>C (p.Asp414Ala)
NM_001846.4(COL4A2):c.124T>C (p.Cys42Arg)
NM_001846.4(COL4A2):c.1265G>A (p.Gly422Glu)
NM_001846.4(COL4A2):c.1267G>A (p.Gly423Ser)
NM_001846.4(COL4A2):c.1268G>A (p.Gly423Asp) rs2139481315
NM_001846.4(COL4A2):c.1287_1339+1dup rs1566539998
NM_001846.4(COL4A2):c.1292G>A (p.Arg431Gln)
NM_001846.4(COL4A2):c.1298C>T (p.Pro433Leu)
NM_001846.4(COL4A2):c.1300C>T (p.Pro434Ser)
NM_001846.4(COL4A2):c.1309C>G (p.Pro437Ala)
NM_001846.4(COL4A2):c.1312G>A (p.Gly438Arg)
NM_001846.4(COL4A2):c.1340-4C>G
NM_001846.4(COL4A2):c.1364C>T (p.Ala455Val) rs2139490864
NM_001846.4(COL4A2):c.1395del (p.Gly466fs) rs747549182
NM_001846.4(COL4A2):c.1396G>A (p.Gly466Ser)
NM_001846.4(COL4A2):c.1452A>T (p.Arg484Ser)
NM_001846.4(COL4A2):c.1453T>C (p.Cys485Arg)
NM_001846.4(COL4A2):c.1463G>A (p.Gly488Asp)
NM_001846.4(COL4A2):c.1483C>A (p.Leu495Ile) rs2139493545
NM_001846.4(COL4A2):c.1513G>T (p.Ala505Ser)
NM_001846.4(COL4A2):c.1525G>A (p.Gly509Arg)
NM_001846.4(COL4A2):c.1538G>A (p.Arg513Lys) rs2139493755
NM_001846.4(COL4A2):c.1558C>T (p.Pro520Ser)
NM_001846.4(COL4A2):c.1611C>G (p.Asn537Lys)
NM_001846.4(COL4A2):c.1613T>C (p.Ile538Thr)
NM_001846.4(COL4A2):c.1624G>A (p.Gly542Arg) rs534644575
NM_001846.4(COL4A2):c.163C>A (p.Pro55Thr)
NM_001846.4(COL4A2):c.1641A>T (p.Lys547Asn) rs2139498824
NM_001846.4(COL4A2):c.1645G>A (p.Asp549Asn) rs1392128437
NM_001846.4(COL4A2):c.1658T>C (p.Ile553Thr) rs2139498877
NM_001846.4(COL4A2):c.1663A>C (p.Thr555Pro)
NM_001846.4(COL4A2):c.1670-13A>G
NM_001846.4(COL4A2):c.1697G>T (p.Gly566Val)
NM_001846.4(COL4A2):c.1727G>A (p.Ser576Asn) rs1085307799
NM_001846.4(COL4A2):c.1733G>C (p.Gly578Ala)
NM_001846.4(COL4A2):c.1736G>A (p.Arg579His)
NM_001846.4(COL4A2):c.1747G>A (p.Asp583Asn)
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
NM_001846.4(COL4A2):c.1762C>T (p.Leu588Phe)
NM_001846.4(COL4A2):c.1775C>T (p.Pro592Leu) rs2139499327
NM_001846.4(COL4A2):c.1776+1G>T rs886039602
NM_001846.4(COL4A2):c.1776+20_1776+21delinsAA
NM_001846.4(COL4A2):c.1777-1G>C rs2139503359
NM_001846.4(COL4A2):c.1784G>C (p.Gly595Ala)
NM_001846.4(COL4A2):c.1805A>G (p.Asp602Gly)
NM_001846.4(COL4A2):c.1824A>G (p.Ile608Met)
NM_001846.4(COL4A2):c.1885A>G (p.Lys629Glu)
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp) rs1057523764
NM_001846.4(COL4A2):c.1907G>A (p.Gly636Glu)
NM_001846.4(COL4A2):c.1909G>A (p.Asp637Asn) rs2139503578
NM_001846.4(COL4A2):c.1943G>T (p.Gly648Val) rs2139503646
NM_001846.4(COL4A2):c.197T>C (p.Val66Ala)
NM_001846.4(COL4A2):c.2001G>C (p.Arg667Ser)
NM_001846.4(COL4A2):c.2030T>G (p.Ile677Ser)
NM_001846.4(COL4A2):c.2038+1G>A
NM_001846.4(COL4A2):c.205C>T (p.Gln69Ter) rs1175562839
NM_001846.4(COL4A2):c.2070_2078del (p.688LPG[1])
NM_001846.4(COL4A2):c.2084del (p.Pro695fs)
NM_001846.4(COL4A2):c.2086G>A (p.Gly696Ser)
NM_001846.4(COL4A2):c.2090_2091del (p.Pro697fs) rs1555330957
NM_001846.4(COL4A2):c.2093C>G (p.Thr698Arg)
NM_001846.4(COL4A2):c.2173G>A (p.Ala725Thr)
NM_001846.4(COL4A2):c.2177G>A (p.Gly726Asp)
NM_001846.4(COL4A2):c.217G>C (p.Gly73Arg)
NM_001846.4(COL4A2):c.2183A>T (p.Glu728Val)
NM_001846.4(COL4A2):c.2248G>C (p.Gly750Arg)
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu) rs1882538642
NM_001846.4(COL4A2):c.2291A>G (p.Asp764Gly)
NM_001846.4(COL4A2):c.2297C>G (p.Pro766Arg) rs1193775766
NM_001846.4(COL4A2):c.2308A>T (p.Arg770Trp)
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser) rs886049976
NM_001846.4(COL4A2):c.2332G>A (p.Gly778Arg)
NM_001846.4(COL4A2):c.2341C>T (p.Pro781Ser)
NM_001846.4(COL4A2):c.2342C>G (p.Pro781Arg) rs2139512765
NM_001846.4(COL4A2):c.2357A>T (p.Asp786Val)
NM_001846.4(COL4A2):c.2383C>T (p.Leu795Phe) rs1340849111
NM_001846.4(COL4A2):c.2398G>A (p.Gly800Arg)
NM_001846.4(COL4A2):c.2408G>A (p.Gly803Asp)
NM_001846.4(COL4A2):c.2425+3G>A
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2437A>T (p.Met813Leu)
NM_001846.4(COL4A2):c.2442_2450dup (p.Gly818_Leu819insMetProGly)
NM_001846.4(COL4A2):c.2447T>A (p.Met816Lys)
NM_001846.4(COL4A2):c.2461G>A (p.Gly821Ser)
NM_001846.4(COL4A2):c.2488G>A (p.Gly830Ser) rs1333372502
NM_001846.4(COL4A2):c.2495C>T (p.Pro832Leu)
NM_001846.4(COL4A2):c.2539C>T (p.Pro847Ser) rs2139519248
NM_001846.4(COL4A2):c.253G>A (p.Gly85Arg)
NM_001846.4(COL4A2):c.2552G>T (p.Gly851Val)
NM_001846.4(COL4A2):c.256C>T (p.Arg86Cys)
NM_001846.4(COL4A2):c.2582G>A (p.Arg861His)
NM_001846.4(COL4A2):c.2624G>C (p.Gly875Ala) rs2139522138
NM_001846.4(COL4A2):c.2626G>A (p.Ala876Thr)
NM_001846.4(COL4A2):c.2635C>A (p.Pro879Thr)
NM_001846.4(COL4A2):c.2657C>T (p.Ser886Phe)
NM_001846.4(COL4A2):c.2672A>G (p.Asp891Gly)
NM_001846.4(COL4A2):c.2707A>G (p.Ser903Gly) rs2139522253
NM_001846.4(COL4A2):c.2749G>A (p.Gly917Arg)
NM_001846.4(COL4A2):c.2770T>C (p.Ser924Pro)
NM_001846.4(COL4A2):c.2774C>G (p.Pro925Arg)
NM_001846.4(COL4A2):c.2798T>C (p.Met933Thr)
NM_001846.4(COL4A2):c.2799G>A (p.Met933Ile) rs1336692495
NM_001846.4(COL4A2):c.2800C>T (p.Pro934Ser)
NM_001846.4(COL4A2):c.281G>A (p.Gly94Glu)
NM_001846.4(COL4A2):c.2821G>A (p.Gly941Arg)
NM_001846.4(COL4A2):c.2840G>T (p.Gly947Val)
NM_001846.4(COL4A2):c.2846C>T (p.Ala949Val) rs778696475
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp) rs754829210
NM_001846.4(COL4A2):c.284C>T (p.Ala95Val) rs754829210
NM_001846.4(COL4A2):c.287C>T (p.Pro96Leu)
NM_001846.4(COL4A2):c.28G>A (p.Gly10Ser)
NM_001846.4(COL4A2):c.2902+3A>T
NM_001846.4(COL4A2):c.2921G>A (p.Gly974Glu)
NM_001846.4(COL4A2):c.292G>A (p.Val98Ile)
NM_001846.4(COL4A2):c.2954G>C (p.Gly985Ala)
NM_001846.4(COL4A2):c.2954_2955delinsTT (p.Gly985Val) rs2139528190
NM_001846.4(COL4A2):c.2958G>A (p.Met986Ile)
NM_001846.4(COL4A2):c.2978A>G (p.Lys993Arg)
NM_001846.4(COL4A2):c.298G>A (p.Gly100Arg) rs1251400296
NM_001846.4(COL4A2):c.3028A>G (p.Ile1010Val)
NM_001846.4(COL4A2):c.310G>A (p.Asp104Asn)
NM_001846.4(COL4A2):c.3124C>T (p.Pro1042Ser)
NM_001846.4(COL4A2):c.3125C>T (p.Pro1042Leu)
NM_001846.4(COL4A2):c.3136G>A (p.Gly1046Ser)
NM_001846.4(COL4A2):c.3143C>A (p.Pro1048Gln) rs767119766
NM_001846.4(COL4A2):c.315+5G>A rs1406323858
NM_001846.4(COL4A2):c.3155G>T (p.Gly1052Val)
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala) rs201763437
NM_001846.4(COL4A2):c.3218G>A (p.Gly1073Asp)
NM_001846.4(COL4A2):c.3224C>T (p.Pro1075Leu)
NM_001846.4(COL4A2):c.322dup (p.Arg108fs)
NM_001846.4(COL4A2):c.3247G>A (p.Glu1083Lys)
NM_001846.4(COL4A2):c.3248A>G (p.Glu1083Gly)
NM_001846.4(COL4A2):c.3250A>G (p.Ile1084Val)
NM_001846.4(COL4A2):c.3251T>C (p.Ile1084Thr)
NM_001846.4(COL4A2):c.325G>T (p.Gly109Cys) rs2139454203
NM_001846.4(COL4A2):c.3271G>A (p.Gly1091Ser)
NM_001846.4(COL4A2):c.3272G>T (p.Gly1091Val) rs2139534208
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
NM_001846.4(COL4A2):c.3280G>A (p.Gly1094Arg)
NM_001846.4(COL4A2):c.3287C>T (p.Thr1096Ile)
NM_001846.4(COL4A2):c.3301G>A (p.Gly1101Arg)
NM_001846.4(COL4A2):c.3346+3dup
NM_001846.4(COL4A2):c.3389T>C (p.Ile1130Thr)
NM_001846.4(COL4A2):c.3436G>A (p.Gly1146Arg)
NM_001846.4(COL4A2):c.3454+5A>T
NM_001846.4(COL4A2):c.347C>T (p.Ala116Val)
NM_001846.4(COL4A2):c.3487C>G (p.Gln1163Glu) rs1594106494
NM_001846.4(COL4A2):c.3491G>C (p.Gly1164Ala)
NM_001846.4(COL4A2):c.3499G>A (p.Gly1167Arg)
NM_001846.4(COL4A2):c.349G>A (p.Asp117Asn) rs374976511
NM_001846.4(COL4A2):c.3508G>A (p.Gly1170Arg)
NM_001846.4(COL4A2):c.350A>G (p.Asp117Gly)
NM_001846.4(COL4A2):c.3535G>A (p.Gly1179Ser) rs1206297668
NM_001846.4(COL4A2):c.3536G>C (p.Gly1179Ala)
NM_001846.4(COL4A2):c.3542C>T (p.Pro1181Leu)
NM_001846.4(COL4A2):c.3548C>T (p.Ala1183Val)
NM_001846.4(COL4A2):c.3563-4G>C rs562701263
NM_001846.4(COL4A2):c.3586C>T (p.Arg1196Cys)
NM_001846.4(COL4A2):c.3587G>A (p.Arg1196His)
NM_001846.4(COL4A2):c.3589G>A (p.Gly1197Ser)
NM_001846.4(COL4A2):c.360+6T>C rs1131691273
NM_001846.4(COL4A2):c.361-15T>A
NM_001846.4(COL4A2):c.3613A>G (p.Lys1205Glu)
NM_001846.4(COL4A2):c.3632C>T (p.Pro1211Leu)
NM_001846.4(COL4A2):c.3635-3C>T
NM_001846.4(COL4A2):c.3686del (p.Gly1229fs) rs1883424044
NM_001846.4(COL4A2):c.368C>T (p.Pro123Leu)
NM_001846.4(COL4A2):c.3695G>C (p.Gly1232Ala)
NM_001846.4(COL4A2):c.3712C>A (p.Pro1238Thr)
NM_001846.4(COL4A2):c.3712C>G (p.Pro1238Ala)
NM_001846.4(COL4A2):c.3712C>T (p.Pro1238Ser)
NM_001846.4(COL4A2):c.3747C>A (p.Asp1249Glu)
NM_001846.4(COL4A2):c.3762G>A (p.Gly1254=)
NM_001846.4(COL4A2):c.3767G>A (p.Arg1256Gln)
NM_001846.4(COL4A2):c.3769G>A (p.Gly1257Ser) rs2139549819
NM_001846.4(COL4A2):c.376G>T (p.Gly126Cys)
NM_001846.4(COL4A2):c.377G>A (p.Gly126Asp) rs1880549875
NM_001846.4(COL4A2):c.3796G>T (p.Gly1266Trp) rs1555333415
NM_001846.4(COL4A2):c.3842G>A (p.Gly1281Asp) rs2139549975
NM_001846.4(COL4A2):c.3878-3C>T
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
NM_001846.4(COL4A2):c.389del (p.Gly130fs) rs758180751
NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)
NM_001846.4(COL4A2):c.3982G>T (p.Ala1328Ser)
NM_001846.4(COL4A2):c.4039+6A>T
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp) rs2139552522
NM_001846.4(COL4A2):c.4051G>A (p.Glu1351Lys)
NM_001846.4(COL4A2):c.4058G>C (p.Gly1353Ala) rs1064795332
NM_001846.4(COL4A2):c.4089_4090delinsAT (p.Val1364Leu) rs2139552619
NM_001846.4(COL4A2):c.4126C>G (p.Pro1376Ala)
NM_001846.4(COL4A2):c.4141G>A (p.Ala1381Thr)
NM_001846.4(COL4A2):c.4249G>T (p.Gly1417Trp)
NM_001846.4(COL4A2):c.4276G>A (p.Gly1426Arg) rs2139553655
NM_001846.4(COL4A2):c.4285+4G>T
NM_001846.4(COL4A2):c.4290_4291delinsTT (p.Arg1431Cys) rs2139553984
NM_001846.4(COL4A2):c.4316C>T (p.Pro1439Leu)
NM_001846.4(COL4A2):c.4354C>T (p.Arg1452Trp)
NM_001846.4(COL4A2):c.4381C>G (p.Gln1461Glu) rs1883762955
NM_001846.4(COL4A2):c.4388C>T (p.Pro1463Leu) rs766824658
NM_001846.4(COL4A2):c.4390A>G (p.Ile1464Val)
NM_001846.4(COL4A2):c.4426C>G (p.Pro1476Ala) rs2139558047
NM_001846.4(COL4A2):c.4451G>A (p.Arg1484His)
NM_001846.4(COL4A2):c.4453A>G (p.Ser1485Gly) rs753103440
NM_001846.4(COL4A2):c.4465G>A (p.Gly1489Ser)
NM_001846.4(COL4A2):c.4466G>A (p.Gly1489Asp) rs1025762255
NM_001846.4(COL4A2):c.4468T>C (p.Tyr1490His)
NM_001846.4(COL4A2):c.446C>A (p.Pro149His)
NM_001846.4(COL4A2):c.4487G>C (p.Ser1496Thr)
NM_001846.4(COL4A2):c.4493C>T (p.Thr1498Met)
NM_001846.4(COL4A2):c.449C>T (p.Pro150Leu)
NM_001846.4(COL4A2):c.45-1G>A
NM_001846.4(COL4A2):c.4514_4515inv (p.Pro1505Leu)
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4577C>T (p.Ala1526Val)
NM_001846.4(COL4A2):c.4591C>G (p.Leu1531Val)
NM_001846.4(COL4A2):c.4594+6T>C
NM_001846.4(COL4A2):c.4597C>A (p.Leu1533Met)
NM_001846.4(COL4A2):c.4600G>T (p.Ala1534Ser)
NM_001846.4(COL4A2):c.4619G>A (p.Arg1540Gln)
NM_001846.4(COL4A2):c.4646G>A (p.Cys1549Tyr)
NM_001846.4(COL4A2):c.4709C>A (p.Thr1570Asn) rs2139560153
NM_001846.4(COL4A2):c.4765C>T (p.Arg1589Cys)
NM_001846.4(COL4A2):c.4766G>A (p.Arg1589His)
NM_001846.4(COL4A2):c.477+7A>G
NM_001846.4(COL4A2):c.4772C>G (p.Ser1591Cys)
NM_001846.4(COL4A2):c.4780G>C (p.Glu1594Gln)
NM_001846.4(COL4A2):c.4784C>G (p.Ala1595Gly)
NM_001846.4(COL4A2):c.4807C>A (p.His1603Asn)
NM_001846.4(COL4A2):c.4815G>C (p.Gln1605His) rs746358473
NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser)
NM_001846.4(COL4A2):c.4843G>T (p.Gly1615Trp)
NM_001846.4(COL4A2):c.4863_4867del (p.Gly1622fs)
NM_001846.4(COL4A2):c.4881+6T>A
NM_001846.4(COL4A2):c.4882-11T>C rs1884094379
NM_001846.4(COL4A2):c.4894G>C (p.Gly1632Arg)
NM_001846.4(COL4A2):c.4903G>A (p.Gly1635Ser)
NM_001846.4(COL4A2):c.4912C>T (p.Gln1638Ter) rs2139564451
NM_001846.4(COL4A2):c.491C>A (p.Pro164Gln)
NM_001846.4(COL4A2):c.4921G>A (p.Val1641Met)
NM_001846.4(COL4A2):c.4922T>C (p.Val1641Ala)
NM_001846.4(COL4A2):c.4928C>T (p.Pro1643Leu)
NM_001846.4(COL4A2):c.4952G>A (p.Arg1651His)
NM_001846.4(COL4A2):c.4984C>T (p.Arg1662Cys)
NM_001846.4(COL4A2):c.4G>C (p.Gly2Arg) rs752976373
NM_001846.4(COL4A2):c.5004C>G (p.Tyr1668Ter)
NM_001846.4(COL4A2):c.5005G>A (p.Ala1669Thr) rs199959120
NM_001846.4(COL4A2):c.5007CAA[1] (p.Asn1670del) rs781056404
NM_001846.4(COL4A2):c.5032A>G (p.Thr1678Ala)
NM_001846.4(COL4A2):c.5039C>G (p.Pro1680Arg)
NM_001846.4(COL4A2):c.5053C>G (p.Gln1685Glu) rs2139564639
NM_001846.4(COL4A2):c.5056G>T (p.Gly1686Cys) rs778961988
NM_001846.4(COL4A2):c.5086G>A (p.Gly1696Ser)
NM_001846.4(COL4A2):c.5122_5138del (p.Cys1708fs) rs1280406576
NM_001846.4(COL4A2):c.5128A>C (p.Lys1710Gln)
NM_001846.4(COL4A2):c.522_525del (p.Pro175fs) rs2139458607
NM_001846.4(COL4A2):c.551G>T (p.Gly184Val) rs1555328401
NM_001846.4(COL4A2):c.577G>A (p.Gly193Ser)
NM_001846.4(COL4A2):c.585+4A>C
NM_001846.4(COL4A2):c.595G>A (p.Gly199Ser)
NM_001846.4(COL4A2):c.605G>A (p.Gly202Glu)
NM_001846.4(COL4A2):c.643A>G (p.Arg215Gly)
NM_001846.4(COL4A2):c.656C>T (p.Pro219Leu)
NM_001846.4(COL4A2):c.661C>A (p.Pro221Thr)
NM_001846.4(COL4A2):c.690C>G (p.Asn230Lys)
NM_001846.4(COL4A2):c.726+3A>G rs2139462565
NM_001846.4(COL4A2):c.726+4A>G rs2139462568
NM_001846.4(COL4A2):c.726G>A (p.Lys242=) rs1463099199
NM_001846.4(COL4A2):c.727-8A>G
NM_001846.4(COL4A2):c.734T>C (p.Val245Ala) rs746759612
NM_001846.4(COL4A2):c.734T>G (p.Val245Gly)
NM_001846.4(COL4A2):c.743C>T (p.Pro248Leu)
NM_001846.4(COL4A2):c.788C>T (p.Ala263Val)
NM_001846.4(COL4A2):c.812C>T (p.Pro271Leu)
NM_001846.4(COL4A2):c.825+1G>A
NM_001846.4(COL4A2):c.825+5A>T
NM_001846.4(COL4A2):c.826-1G>T
NM_001846.4(COL4A2):c.827G>T (p.Gly276Val) rs372917662
NM_001846.4(COL4A2):c.829G>A (p.Glu277Lys)
NM_001846.4(COL4A2):c.838A>G (p.Ser280Gly)
NM_001846.4(COL4A2):c.83C>T (p.Ala28Val)
NM_001846.4(COL4A2):c.862-15T>A
NM_001846.4(COL4A2):c.882A>T (p.Glu294Asp) rs2139467210
NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter)
NM_001846.4(COL4A2):c.900T>A (p.Phe300Leu)
NM_001846.4(COL4A2):c.912+18T>G
NM_001846.4(COL4A2):c.919C>G (p.Pro307Ala)
NM_001846.4(COL4A2):c.92T>C (p.Val31Ala)
NM_001846.4(COL4A2):c.930T>A (p.Ser310Arg)
NM_001846.4(COL4A2):c.940G>C (p.Gly314Arg)
NM_001846.4(COL4A2):c.941G>T (p.Gly314Val)
NM_001846.4(COL4A2):c.953A>G (p.Gln318Arg)
NM_001846.4(COL4A2):c.953A>T (p.Gln318Leu)
NM_001846.4(COL4A2):c.980A>G (p.Tyr327Cys) rs1881300877
NM_001846.4(COL4A2):c.988C>T (p.Pro330Ser)

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