ClinVar Miner

List of variants studied for Autosomal recessive Alport syndrome; Hematuria, benign familial, 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 509
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00022
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) rs372841765 0.00018
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00015
NM_000092.5(COL4A4):c.136C>A (p.Pro46Thr) rs374836502 0.00013
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00013
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys) rs771064865 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu) rs749738744 0.00008
NM_000092.5(COL4A4):c.1148A>G (p.Asp383Gly) rs764482364 0.00007
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00007
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val) rs199911379 0.00006
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.3494C>T (p.Pro1165Leu) rs374343979 0.00005
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys) rs750501128 0.00005
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu) rs201996712 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.4810-15_4810-14del rs776687068 0.00005
NM_000092.5(COL4A4):c.544G>A (p.Val182Ile) rs377231912 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.1762C>T (p.Arg588Trp) rs778889239 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 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.1277G>A (p.Gly426Glu) rs1019388756 0.00003
NM_000092.5(COL4A4):c.1763G>A (p.Arg588Gln) rs369334025 0.00003
NM_000092.5(COL4A4):c.196C>T (p.Pro66Ser) rs758822531 0.00003
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00003
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp) rs767194693 0.00003
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp) rs775698697 0.00003
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys) rs769191749 0.00003
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00003
NM_000092.5(COL4A4):c.4546G>A (p.Val1516Ile) rs199517662 0.00003
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met) rs770268591 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057 0.00003
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys) rs372007783 0.00003
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg) rs751744651 0.00002
NM_000092.5(COL4A4):c.1922G>A (p.Arg641Gln) rs772264905 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) rs778458961 0.00002
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) rs780290586 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.490-3C>G rs762040845 0.00002
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00002
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000092.5(COL4A4):c.1370-5G>T rs752509706 0.00001
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704 0.00001
NM_000092.5(COL4A4):c.1792C>A (p.Pro598Thr) rs1411689737 0.00001
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn) rs747599746 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu) rs747641722 0.00001
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser) rs1976360591 0.00001
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu) rs371817534 0.00001
NM_000092.5(COL4A4):c.2536G>A (p.Gly846Ser) rs1431303701 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.2839C>T (p.Arg947Trp) rs572872038 0.00001
NM_000092.5(COL4A4):c.2860+3A>C rs1214723450 0.00001
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) rs1450052915 0.00001
NM_000092.5(COL4A4):c.3214+2T>A rs778161679 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3328A>G (p.Ile1110Val) rs371595632 0.00001
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser) rs754697085 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser) rs1175135285 0.00001
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297 0.00001
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn) rs750148143 0.00001
NM_000092.5(COL4A4):c.3730G>A (p.Ala1244Thr) rs946603420 0.00001
NM_000092.5(COL4A4):c.3918A>G (p.Pro1306=) rs777256419 0.00001
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val) rs933331654 0.00001
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu) rs1472133934 0.00001
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val) rs1287040507 0.00001
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394 0.00001
NM_000092.5(COL4A4):c.4679G>A (p.Arg1560His) rs747362746 0.00001
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys) rs1011809976 0.00001
NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg) rs1403779580 0.00001
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg) rs1559393934 0.00001
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg) rs749899964 0.00001
NM_000092.5(COL4A4):c.4937A>G (p.Asn1646Ser) rs764734415 0.00001
NM_000092.5(COL4A4):c.4943A>G (p.Tyr1648Cys) rs763387095 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 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.666_667insA (p.Gly223fs) rs2475788149 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) rs762043158 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg) rs1162654150 0.00001
NC_000002.12:g.227030555delinsGAG rs1575895541
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1003G>T (p.Gly335Trp)
NM_000092.5(COL4A4):c.100C>A (p.Gln34Lys)
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp) rs2475529342
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1029G>T (p.Lys343Asn)
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1049G>A (p.Gly350Glu)
NM_000092.5(COL4A4):c.104A>G (p.Tyr35Cys)
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe) rs374680846
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) rs764981982
NM_000092.5(COL4A4):c.1099G>C (p.Gly367Arg)
NM_000092.5(COL4A4):c.1106C>T (p.Pro369Leu)
NM_000092.5(COL4A4):c.1124C>T (p.Pro375Leu)
NM_000092.5(COL4A4):c.1130G>A (p.Arg377His)
NM_000092.5(COL4A4):c.1142C>T (p.Thr381Ile)
NM_000092.5(COL4A4):c.1143del (p.Asp383fs)
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg) rs2150739928
NM_000092.5(COL4A4):c.1146_1147dup (p.Asp383fs)
NM_000092.5(COL4A4):c.114G>A (p.Gly38=)
NM_000092.5(COL4A4):c.1169del (p.Pro390fs) rs2475418667
NM_000092.5(COL4A4):c.1172G>A (p.Gly391Asp)
NM_000092.5(COL4A4):c.119G>A (p.Gly40Glu)
NM_000092.5(COL4A4):c.1205-1_1205delinsC
NM_000092.5(COL4A4):c.1222G>A (p.Gly408Arg)
NM_000092.5(COL4A4):c.1235T>G (p.Phe412Cys)
NM_000092.5(COL4A4):c.1240G>A (p.Gly414Ser)
NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg) rs373150214
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp) rs2150687507
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile) rs1249738800
NM_000092.5(COL4A4):c.1252_1278dup (p.Gly426_Arg427insLeuProGlyGluAlaGlyIleProGly)
NM_000092.5(COL4A4):c.1267G>A (p.Gly423Ser)
NM_000092.5(COL4A4):c.1268G>A (p.Gly423Asp)
NM_000092.5(COL4A4):c.129C>G (p.Tyr43Ter)
NM_000092.5(COL4A4):c.1308dup (p.Lys437fs)
NM_000092.5(COL4A4):c.1315G>A (p.Gly439Arg)
NM_000092.5(COL4A4):c.1324G>A (p.Gly442Ser) rs2060086619
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.134del (p.Gly45fs)
NM_000092.5(COL4A4):c.1351G>A (p.Gly451Ser)
NM_000092.5(COL4A4):c.1352G>A (p.Gly451Asp)
NM_000092.5(COL4A4):c.1358C>T (p.Pro453Leu)
NM_000092.5(COL4A4):c.1364C>T (p.Ser455Leu)
NM_000092.5(COL4A4):c.1369+10T>G rs2060083691
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.1399_1400del (p.Pro467fs)
NM_000092.5(COL4A4):c.141T>A (p.Cys47Ter)
NM_000092.5(COL4A4):c.1438A>G (p.Arg480Gly)
NM_000092.5(COL4A4):c.1499G>T (p.Gly500Val)
NM_000092.5(COL4A4):c.1504C>G (p.Pro502Ala) rs767258671
NM_000092.5(COL4A4):c.1504C>T (p.Pro502Ser)
NM_000092.5(COL4A4):c.1505del (p.Pro502fs) rs2475031974
NM_000092.5(COL4A4):c.1505dup (p.Gly503fs)
NM_000092.5(COL4A4):c.1536G>T (p.Gly512=)
NM_000092.5(COL4A4):c.1538G>A (p.Ser513Asn)
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu) rs564334744
NM_000092.5(COL4A4):c.1554del (p.Leu519fs) rs2059734968
NM_000092.5(COL4A4):c.1565G>A (p.Trp522Ter)
NM_000092.5(COL4A4):c.1577A>G (p.Lys526Arg)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1612C>G (p.Pro538Ala)
NM_000092.5(COL4A4):c.1619T>C (p.Leu540Pro)
NM_000092.5(COL4A4):c.1624-2A>G
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.1652_1653delinsAA (p.Gly551Glu)
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+3G>A
NM_000092.5(COL4A4):c.1696+6C>T
NM_000092.5(COL4A4):c.1697-2A>C
NM_000092.5(COL4A4):c.1748C>T (p.Pro583Leu)
NM_000092.5(COL4A4):c.1772A>G (p.His591Arg)
NM_000092.5(COL4A4):c.1777G>T (p.Gly593Ter)
NM_000092.5(COL4A4):c.1798C>T (p.Pro600Ser)
NM_000092.5(COL4A4):c.1804-1G>C
NM_000092.5(COL4A4):c.1820C>A (p.Ala607Glu)
NM_000092.5(COL4A4):c.1874G>A (p.Gly625Glu)
NM_000092.5(COL4A4):c.1915G>C (p.Gly639Arg)
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) rs778345125
NM_000092.5(COL4A4):c.1925G>T (p.Gly642Val)
NM_000092.5(COL4A4):c.193-13T>A
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.1938_1941dup (p.Gly648fs)
NM_000092.5(COL4A4):c.194G>T (p.Gly65Val)
NM_000092.5(COL4A4):c.1951G>A (p.Gly651Ser)
NM_000092.5(COL4A4):c.1956G>A (p.Val652=) rs2150475372
NM_000092.5(COL4A4):c.1961del (p.Gly654fs)
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn) rs2059119231
NM_000092.5(COL4A4):c.1987+1G>A rs2150474860
NM_000092.5(COL4A4):c.1987G>A (p.Gly663Ser) rs2474714315
NM_000092.5(COL4A4):c.1988-2A>G
NM_000092.5(COL4A4):c.1988G>A (p.Gly663Asp)
NM_000092.5(COL4A4):c.199C>T (p.Pro67Ser)
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg) rs369522855
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser) rs1977400475
NM_000092.5(COL4A4):c.203G>A (p.Gly68Glu)
NM_000092.5(COL4A4):c.203G>T (p.Gly68Val)
NM_000092.5(COL4A4):c.2044G>A (p.Asp682Asn)
NM_000092.5(COL4A4):c.2046T>G (p.Asp682Glu)
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2075G>T (p.Gly692Val)
NM_000092.5(COL4A4):c.2115dup (p.Lys706Ter)
NM_000092.5(COL4A4):c.2165-1G>A
NM_000092.5(COL4A4):c.2243G>C (p.Gly748Ala)
NM_000092.5(COL4A4):c.2251G>A (p.Gly751Arg)
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter) rs2150275391
NM_000092.5(COL4A4):c.2252G>C (p.Gly751Ala)
NM_000092.5(COL4A4):c.2254G>C (p.Val752Leu)
NM_000092.5(COL4A4):c.2263C>A (p.Gln755Lys)
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu) rs2474221510
NM_000092.5(COL4A4):c.2283C>A (p.Asp761Glu)
NM_000092.5(COL4A4):c.2302G>T (p.Gly768Ter)
NM_000092.5(COL4A4):c.2363C>T (p.Pro788Leu)
NM_000092.5(COL4A4):c.2383+1G>A rs2474215752
NM_000092.5(COL4A4):c.2385del rs1975778377
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly) rs2474167816
NM_000092.5(COL4A4):c.2399del (p.Pro800fs)
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu) rs200814061
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2419G>T (p.Gly807Cys)
NM_000092.5(COL4A4):c.2441A>G (p.His814Arg)
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.2464G>C (p.Gly822Arg)
NM_000092.5(COL4A4):c.2485G>C (p.Glu829Gln)
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu) rs1559677316
NM_000092.5(COL4A4):c.2501G>A (p.Gly834Glu)
NM_000092.5(COL4A4):c.2519G>A (p.Gly840Glu)
NM_000092.5(COL4A4):c.2529_2537delinsAT (p.Tyr844fs)
NM_000092.5(COL4A4):c.2545+1G>A rs2474160561
NM_000092.5(COL4A4):c.2545+2_2545+3dup
NM_000092.5(COL4A4):c.2545+5G>A
NM_000092.5(COL4A4):c.2546-16C>G
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.254T>C (p.Ile85Thr)
NM_000092.5(COL4A4):c.2555G>A (p.Gly852Asp) rs2474124227
NM_000092.5(COL4A4):c.2563G>A (p.Gly855Arg)
NM_000092.5(COL4A4):c.2575del (p.Asp859fs)
NM_000092.5(COL4A4):c.2579T>G (p.Val860Gly)
NM_000092.5(COL4A4):c.2599G>A (p.Gly867Arg) rs768902127
NM_000092.5(COL4A4):c.2608G>C (p.Gly870Arg)
NM_000092.5(COL4A4):c.2609G>C (p.Gly870Ala)
NM_000092.5(COL4A4):c.2616del (p.Gly873fs) rs2474121090
NM_000092.5(COL4A4):c.2620C>A (p.Leu874Ile)
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup) rs765923395
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del) rs2150234491
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2644_2647delinsTCCAGGAGGCCT (p.Gly882fs)
NM_000092.5(COL4A4):c.2650C>A (p.Pro884Thr)
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala) rs762460101
NM_000092.5(COL4A4):c.2675C>A (p.Pro892His)
NM_000092.5(COL4A4):c.2715_2716+1dup
NM_000092.5(COL4A4):c.2716+5G>A
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg) rs764465049
NM_000092.5(COL4A4):c.2734G>T (p.Gly912Cys)
NM_000092.5(COL4A4):c.2762G>A (p.Gly921Glu)
NM_000092.5(COL4A4):c.2765del (p.Lys922fs)
NM_000092.5(COL4A4):c.2861-14A>G
NM_000092.5(COL4A4):c.2861-17A>G
NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg) rs1402343399
NM_000092.5(COL4A4):c.2892_2893insC (p.Met965fs)
NM_000092.5(COL4A4):c.2896dup (p.Ala966fs)
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) rs372413045
NM_000092.5(COL4A4):c.292G>A (p.Gly98Ser)
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs) rs2476238585
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg) rs759439914
NM_000092.5(COL4A4):c.2957C>T (p.Pro986Leu)
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.2968+1G>A
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp) rs370474706
NM_000092.5(COL4A4):c.3013G>A (p.Gly1005Arg)
NM_000092.5(COL4A4):c.3028C>G (p.Pro1010Ala)
NM_000092.5(COL4A4):c.3052G>A (p.Gly1018Ser)
NM_000092.5(COL4A4):c.3052G>C (p.Gly1018Arg)
NM_000092.5(COL4A4):c.3057G>T (p.Glu1019Asp)
NM_000092.5(COL4A4):c.3071_3074del (p.Gly1024fs)
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro) rs2473970855
NM_000092.5(COL4A4):c.3086del (p.Pro1029fs)
NM_000092.5(COL4A4):c.3087del (p.Gly1030fs)
NM_000092.5(COL4A4):c.3142G>T (p.Gly1048Cys) rs2473967144
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala) rs1973765207
NM_000092.5(COL4A4):c.3161G>T (p.Gly1054Val)
NM_000092.5(COL4A4):c.3172C>A (p.Pro1058Thr)
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs) rs2473939910
NM_000092.5(COL4A4):c.3178G>C (p.Gly1060Arg)
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg) rs1362665820
NM_000092.5(COL4A4):c.3195T>A (p.Asp1065Glu)
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3197G>T (p.Gly1066Val)
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu) rs2150172344
NM_000092.5(COL4A4):c.3211A>G (p.Lys1071Glu)
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+1G>T rs747167770
NM_000092.5(COL4A4):c.3214+3A>G
NM_000092.5(COL4A4):c.3215-3C>A
NM_000092.5(COL4A4):c.322G>T (p.Asp108Tyr)
NM_000092.5(COL4A4):c.3260A>C (p.Lys1087Thr)
NM_000092.5(COL4A4):c.3265G>A (p.Glu1089Lys)
NM_000092.5(COL4A4):c.327+1_327+5del rs2476235922
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.3285T>G (p.Cys1095Trp) rs908532580
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3290-2A>C
NM_000092.5(COL4A4):c.3305C>T (p.Ser1102Phe)
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs) rs1971796422
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs) rs2473719440
NM_000092.5(COL4A4):c.3313del (p.Gln1105fs)
NM_000092.5(COL4A4):c.3316G>A (p.Gly1106Ser)
NM_000092.5(COL4A4):c.331C>T (p.Pro111Ser)
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter) rs2473718276
NM_000092.5(COL4A4):c.3352G>A (p.Gly1118Arg)
NM_000092.5(COL4A4):c.3356G>C (p.Arg1119Thr)
NM_000092.5(COL4A4):c.335C>T (p.Thr112Ile)
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.3394C>G (p.Pro1132Ala)
NM_000092.5(COL4A4):c.3415G>C (p.Gly1139Arg)
NM_000092.5(COL4A4):c.3424_3425del (p.Gly1142fs)
NM_000092.5(COL4A4):c.3441G>A (p.Met1147Ile)
NM_000092.5(COL4A4):c.3469G>C (p.Gly1157Arg)
NM_000092.5(COL4A4):c.3469G>T (p.Gly1157Trp)
NM_000092.5(COL4A4):c.3470G>A (p.Gly1157Glu)
NM_000092.5(COL4A4):c.3472G>A (p.Asp1158Asn)
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp) rs1559480099
NM_000092.5(COL4A4):c.3506-13_3528del rs2149993330
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter) rs1364773011
NM_000092.5(COL4A4):c.3519_3526dup (p.Leu1176fs)
NM_000092.5(COL4A4):c.3520C>T (p.Pro1174Ser)
NM_000092.5(COL4A4):c.3523G>C (p.Gly1175Arg)
NM_000092.5(COL4A4):c.3548A>G (p.Lys1183Arg)
NM_000092.5(COL4A4):c.3577+2T>G
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.3578-2A>C
NM_000092.5(COL4A4):c.3636_3637del (p.Gly1213fs) rs2473354582
NM_000092.5(COL4A4):c.3656G>T (p.Gly1219Val)
NM_000092.5(COL4A4):c.3679G>C (p.Gly1227Arg)
NM_000092.5(COL4A4):c.3689G>C (p.Gly1230Ala) rs1968566020
NM_000092.5(COL4A4):c.3689G>T (p.Gly1230Val)
NM_000092.5(COL4A4):c.3698G>C (p.Gly1233Ala)
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala) rs1394140383
NM_000092.5(COL4A4):c.3722_3740del (p.Pro1241fs)
NM_000092.5(COL4A4):c.3787C>T (p.Gln1263Ter)
NM_000092.5(COL4A4):c.3809G>A (p.Gly1270Asp)
NM_000092.5(COL4A4):c.3817+1G>A
NM_000092.5(COL4A4):c.3817+1G>T
NM_000092.5(COL4A4):c.383_398del (p.Gly128fs)
NM_000092.5(COL4A4):c.3848G>A (p.Ser1283Asn)
NM_000092.5(COL4A4):c.3850G>A (p.Val1284Ile)
NM_000092.5(COL4A4):c.386C>G (p.Pro129Arg)
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3901G>C (p.Gly1301Arg)
NM_000092.5(COL4A4):c.3955G>A (p.Gly1319Arg)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3977C>G (p.Pro1326Arg)
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.401G>A (p.Gly134Asp)
NM_000092.5(COL4A4):c.4029A>T (p.Gly1343=) rs1559444690
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser) rs770838029
NM_000092.5(COL4A4):c.4045G>A (p.Gly1349Arg) rs2149924555
NM_000092.5(COL4A4):c.4046G>T (p.Gly1349Val)
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs) rs1967312678
NM_000092.5(COL4A4):c.4080_4081+1delinsAGT
NM_000092.5(COL4A4):c.4081+5G>A
NM_000092.5(COL4A4):c.4081G>T (p.Gly1361Cys)
NM_000092.5(COL4A4):c.4091-10C>T
NM_000092.5(COL4A4):c.4091-1G>A
NM_000092.5(COL4A4):c.4091-8_4092del rs2473010935
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp) rs2473008211
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs) rs2473007651
NM_000092.5(COL4A4):c.4157G>A (p.Gly1386Asp)
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg) rs200645919
NM_000092.5(COL4A4):c.4217-7T>A
NM_000092.5(COL4A4):c.425A>G (p.Asn142Ser)
NM_000092.5(COL4A4):c.4271G>A (p.Gly1424Glu) rs2472735687
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4315G>T (p.Gly1439Cys)
NM_000092.5(COL4A4):c.4324G>C (p.Gly1442Arg)
NM_000092.5(COL4A4):c.4327G>A (p.Gly1443Arg)
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4333+2T>G
NM_000092.5(COL4A4):c.4333+6G>T rs557114682
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn) rs72969704
NM_000092.5(COL4A4):c.4369G>A (p.Gly1457Arg)
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter) rs2472680030
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs) rs2472679125
NM_000092.5(COL4A4):c.4415G>C (p.Ser1472Thr)
NM_000092.5(COL4A4):c.4424A>T (p.Asp1475Val)
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter) rs774471575
NM_000092.5(COL4A4):c.4463G>C (p.Trp1488Ser)
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4483_4484del (p.Tyr1495fs)
NM_000092.5(COL4A4):c.4500G>T (p.Glu1500Asp)
NM_000092.5(COL4A4):c.4522+14A>T
NM_000092.5(COL4A4):c.458G>A (p.Gly153Glu)
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4645dup (p.Leu1549fs)
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.469C>T (p.Leu157Phe)
NM_000092.5(COL4A4):c.4700C>T (p.Ala1567Val)
NM_000092.5(COL4A4):c.4701_4705delinsCC (p.Val1568_Cys1569delinsArg)
NM_000092.5(COL4A4):c.4709A>G (p.Glu1570Gly)
NM_000092.5(COL4A4):c.4738A>G (p.Ser1580Gly)
NM_000092.5(COL4A4):c.4757C>G (p.Pro1586Arg)
NM_000092.5(COL4A4):c.4759C>G (p.Pro1587Ala)
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser) rs2472603497
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg) rs2472603497
NM_000092.5(COL4A4):c.4776G>C (p.Trp1592Cys)
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.4809+17T>A
NM_000092.5(COL4A4):c.4810-6G>A
NM_000092.5(COL4A4):c.4814C>T (p.Thr1605Ile)
NM_000092.5(COL4A4):c.4819G>T (p.Ala1607Ser)
NM_000092.5(COL4A4):c.4829A>T (p.Gln1610Leu)
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.4846C>A (p.Leu1616Ile)
NM_000092.5(COL4A4):c.4846C>G (p.Leu1616Val)
NM_000092.5(COL4A4):c.489+2T>C
NM_000092.5(COL4A4):c.490-6T>G
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.4969G>A (p.Ala1657Thr)
NM_000092.5(COL4A4):c.5070C>A (p.Ser1690Arg)
NM_000092.5(COL4A4):c.5070C>G (p.Ser1690Arg)
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg) rs2061396039
NM_000092.5(COL4A4):c.518G>A (p.Gly173Glu)
NM_000092.5(COL4A4):c.555dup (p.Gln186fs) rs2061393958
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter) rs1351388457
NM_000092.5(COL4A4):c.560G>T (p.Gly187Val)
NM_000092.5(COL4A4):c.593C>T (p.Pro198Leu)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.594+1G>C
NM_000092.5(COL4A4):c.604G>A (p.Gly202Ser)
NM_000092.5(COL4A4):c.605G>A (p.Gly202Asp)
NM_000092.5(COL4A4):c.610G>A (p.Gly204Arg)
NM_000092.5(COL4A4):c.617C>T (p.Pro206Leu) rs537557592
NM_000092.5(COL4A4):c.623G>A (p.Gly208Asp)
NM_000092.5(COL4A4):c.623G>T (p.Gly208Val)
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.659G>A (p.Gly220Glu)
NM_000092.5(COL4A4):c.662del (p.Pro221fs)
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg) rs2475786944
NM_000092.5(COL4A4):c.685G>A (p.Gly229Ser)
NM_000092.5(COL4A4):c.693+3A>G
NM_000092.5(COL4A4):c.703G>A (p.Gly235Ser)
NM_000092.5(COL4A4):c.704G>A (p.Gly235Asp)
NM_000092.5(COL4A4):c.705_710del (p.235GV[1])
NM_000092.5(COL4A4):c.71+1G>A rs1559742015
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala) rs1559631986
NM_000092.5(COL4A4):c.741G>T (p.Glu247Asp)
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.816+4A>G
NM_000092.5(COL4A4):c.816G>A (p.Lys272=)
NM_000092.5(COL4A4):c.818G>A (p.Gly273Asp)
NM_000092.5(COL4A4):c.818del
NM_000092.5(COL4A4):c.821T>C (p.Ile274Thr)
NM_000092.5(COL4A4):c.838del (p.Met280fs)
NM_000092.5(COL4A4):c.845G>A (p.Gly282Glu)
NM_000092.5(COL4A4):c.870+1G>C
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg) rs757578262
NM_000092.5(COL4A4):c.910C>A (p.Pro304Thr)
NM_000092.5(COL4A4):c.914G>T (p.Gly305Val)
NM_000092.5(COL4A4):c.930+1G>A rs2150787516
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) rs1005389790
NM_000092.5(COL4A4):c.975+4A>G
NM_000092.5(COL4A4):c.975G>T (p.Lys325Asn)
NM_000092.5(COL4A4):c.995G>C (p.Gly332Ala)

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