ClinVar Miner

List of variants in gene COL4A4 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1983
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000092.5(COL4A4):c.3817+9G>C rs13423714 0.46646
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812 0.46642
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.10047
NM_000092.5(COL4A4):c.2384-5T>C rs3769641 0.07065
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841 0.01262
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859 0.01259
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272 0.01243
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=) rs34591179 0.01236
NM_000092.5(COL4A4):c.2545+143T>A rs55915150 0.01197
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529 0.00639
NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr) rs77277077 0.00631
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338 0.00619
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.4082-8C>T rs139571413 0.00420
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=) rs200639109 0.00257
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_000092.5(COL4A4):c.4090+14T>C rs147376687 0.00207
NM_000092.5(COL4A4):c.2056+10A>G rs138869451 0.00161
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000092.5(COL4A4):c.71+10C>T rs374140251 0.00077
NM_000092.5(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000 0.00076
NM_000092.5(COL4A4):c.736-10T>G rs201175819 0.00073
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000092.5(COL4A4):c.102A>G (p.Gln34=) rs3817617 0.00056
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146 0.00050
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=) rs199511948 0.00044
NM_000092.5(COL4A4):c.1205-9A>G rs370706928 0.00043
NM_000092.5(COL4A4):c.2383+7G>A rs182406906 0.00039
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00030
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser) rs200707549 0.00030
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475 0.00026
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.4674G>A (p.Ala1558=) rs373933029 0.00021
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000092.5(COL4A4):c.930+11T>C rs531340239 0.00020
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087 0.00019
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu) rs368884003 0.00019
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.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000092.5(COL4A4):c.2073A>G (p.Pro691=) rs368774059 0.00017
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00016
NM_000092.5(COL4A4):c.1987+16T>A rs532962885 0.00016
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000092.5(COL4A4):c.2717-17T>C rs183421243 0.00015
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000092.5(COL4A4):c.1428C>T (p.Pro476=) rs185847845 0.00013
NM_000092.5(COL4A4):c.1624-13A>G rs377386305 0.00013
NM_000092.5(COL4A4):c.1845T>C (p.Pro615=) rs779287922 0.00013
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=) rs199838682 0.00013
NM_000092.5(COL4A4):c.3558A>G (p.Lys1186=) rs778371674 0.00013
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000092.5(COL4A4):c.4590G>A (p.Val1530=) rs141793628 0.00012
NM_000092.5(COL4A4):c.2546-6T>C rs199710625 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985 0.00011
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.595-18G>A rs372991861 0.00010
NM_000092.5(COL4A4):c.1527G>A (p.Gly509=) rs201160539 0.00009
NM_000092.5(COL4A4):c.15C>T (p.His5=) rs199504524 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu) rs746621296 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.4545C>T (p.Pro1515=) rs777758326 0.00009
NM_000092.5(COL4A4):c.1460-6G>A rs771213140 0.00008
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=) rs544472944 0.00008
NM_000092.5(COL4A4):c.285G>A (p.Gly95=) rs773796669 0.00008
NM_000092.5(COL4A4):c.2860+13C>T rs374807397 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.3732A>C (p.Ala1244=) rs368070110 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000092.5(COL4A4):c.4959A>G (p.Thr1653=) rs574960389 0.00008
NM_000092.5(COL4A4):c.2322T>A (p.Gly774=) rs370383308 0.00007
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248 0.00007
NM_000092.5(COL4A4):c.3471G>T (p.Gly1157=) rs759640112 0.00007
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu) rs200411532 0.00006
NM_000092.5(COL4A4):c.1962C>T (p.Gly654=) rs376448360 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000092.5(COL4A4):c.3957A>G (p.Gly1319=) rs758115033 0.00006
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val) rs199911379 0.00006
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys) rs536570392 0.00006
NM_000092.5(COL4A4):c.4809+10G>A rs761121901 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.4961C>T (p.Thr1654Met) rs771066050 0.00006
NM_000092.5(COL4A4):c.543C>T (p.Ala181=) rs777358824 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000092.5(COL4A4):c.975+17A>G rs767294163 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.2164+10_2164+15dup rs1553644265 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=) rs772517977 0.00005
NM_000092.5(COL4A4):c.2717-19T>C rs188817793 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.3151-5G>A rs375631315 0.00005
NM_000092.5(COL4A4):c.4216+11C>T rs117468095 0.00005
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser) rs372558522 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.4525C>T (p.Leu1509=) rs200849651 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=) rs375189390 0.00005
NM_000092.5(COL4A4):c.4810-15_4810-14del rs776687068 0.00005
NM_000092.5(COL4A4):c.788C>G (p.Pro263Arg) rs369108674 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000092.5(COL4A4):c.1624-11T>A rs774394426 0.00004
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2145G>A (p.Ala715=) rs773270107 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2352C>T (p.Pro784=) rs373977276 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.2613C>T (p.Leu871=) rs780182097 0.00004
NM_000092.5(COL4A4):c.2717-3C>T rs191634780 0.00004
NM_000092.5(COL4A4):c.2925G>A (p.Gly975=) rs559743197 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3339C>G (p.Pro1113=) rs1306202170 0.00004
NM_000092.5(COL4A4):c.3405C>T (p.His1135=) rs778816965 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.373-18T>G rs978246620 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys) rs370734150 0.00004
NM_000092.5(COL4A4):c.4287C>T (p.Pro1429=) rs555213853 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700 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.4782C>T (p.Ser1594=) rs200799557 0.00004
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
NM_000092.5(COL4A4):c.90C>T (p.Leu30=) rs747805491 0.00004
NM_000092.5(COL4A4):c.980A>G (p.Glu327Gly) rs375714304 0.00004
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) rs777805216 0.00003
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=) rs1405969453 0.00003
NM_000092.5(COL4A4):c.2364G>A (p.Pro788=) rs1357401968 0.00003
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=) rs761238651 0.00003
NM_000092.5(COL4A4):c.2649C>T (p.Pro883=) rs1318425498 0.00003
NM_000092.5(COL4A4):c.291C>T (p.Arg97=) rs749441530 0.00003
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=) rs778433928 0.00003
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.3150+14G>T rs201486440 0.00003
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=) rs751859861 0.00003
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) rs899227425 0.00003
NM_000092.5(COL4A4):c.3505+9A>G rs779884314 0.00003
NM_000092.5(COL4A4):c.3862A>C (p.Arg1288=) rs201667298 0.00003
NM_000092.5(COL4A4):c.390T>C (p.Pro130=) rs540138735 0.00003
NM_000092.5(COL4A4):c.3996G>A (p.Pro1332=) rs1051737695 0.00003
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676 0.00003
NM_000092.5(COL4A4):c.4091-18C>T rs368900542 0.00003
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=) rs772611085 0.00003
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly) rs749483911 0.00003
NM_000092.5(COL4A4):c.4314C>T (p.Asp1438=) rs373331310 0.00003
NM_000092.5(COL4A4):c.4422G>A (p.Thr1474=) rs750682352 0.00003
NM_000092.5(COL4A4):c.447G>A (p.Gly149=) rs372746082 0.00003
NM_000092.5(COL4A4):c.4546G>A (p.Val1516Ile) rs199517662 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.595-8A>C rs753010952 0.00003
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000092.5(COL4A4):c.72-18G>A rs770916599 0.00003
NM_000092.5(COL4A4):c.743T>C (p.Val248Ala) rs754031227 0.00003
NM_000092.5(COL4A4):c.858A>G (p.Pro286=) rs374173741 0.00003
NM_000092.5(COL4A4):c.888G>A (p.Gly296=) rs746239973 0.00003
NM_000092.5(COL4A4):c.1080T>A (p.Thr360=) rs777600000 0.00002
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys) rs750707504 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1276G>A (p.Gly426Arg) rs552375817 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=) rs374935235 0.00002
NM_000092.5(COL4A4):c.1605A>G (p.Glu535=) rs751190779 0.00002
NM_000092.5(COL4A4):c.1697-8A>G rs1248776850 0.00002
NM_000092.5(COL4A4):c.1824C>A (p.Thr608=) rs777982441 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.1987+8T>A rs780277266 0.00002
NM_000092.5(COL4A4):c.2061G>A (p.Pro687=) rs558925851 0.00002
NM_000092.5(COL4A4):c.2121C>G (p.Gly707=) rs753210825 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.2732C>G (p.Pro911Arg) rs764465049 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly) rs770930167 0.00002
NM_000092.5(COL4A4):c.3117G>A (p.Gly1039=) rs768161234 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.372+7A>G rs1483461114 0.00002
NM_000092.5(COL4A4):c.3780T>G (p.Pro1260=) rs767134668 0.00002
NM_000092.5(COL4A4):c.3818-6G>T rs751224120 0.00002
NM_000092.5(COL4A4):c.3831T>A (p.Pro1277=) rs985035441 0.00002
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.3974-13G>T rs754559367 0.00002
NM_000092.5(COL4A4):c.3974-4_3974-3insG rs1553624204 0.00002
NM_000092.5(COL4A4):c.4176A>C (p.Gly1392=) rs753458224 0.00002
NM_000092.5(COL4A4):c.4216+9C>T rs777112177 0.00002
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile) rs368105222 0.00002
NM_000092.5(COL4A4):c.4334-15C>T rs576286250 0.00002
NM_000092.5(COL4A4):c.4389C>T (p.Leu1463=) rs757955398 0.00002
NM_000092.5(COL4A4):c.4557G>A (p.Thr1519=) rs746374430 0.00002
NM_000092.5(COL4A4):c.4602C>T (p.Ala1534=) rs1962629899 0.00002
NM_000092.5(COL4A4):c.4641G>A (p.Ala1547=) rs767382436 0.00002
NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His) rs200109045 0.00002
NM_000092.5(COL4A4):c.4725G>A (p.Ala1575=) rs886055724 0.00002
NM_000092.5(COL4A4):c.4809+9C>T rs765888822 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.4842G>A (p.Gln1614=) rs1041956519 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000092.5(COL4A4):c.490-3C>G rs762040845 0.00002
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=) rs371571953 0.00002
NM_000092.5(COL4A4):c.539G>A (p.Gly180Asp) rs770685084 0.00002
NM_000092.5(COL4A4):c.588C>T (p.Gly196=) rs373389340 0.00002
NM_000092.5(COL4A4):c.702C>T (p.Pro234=) rs1304177788 0.00002
NM_000092.5(COL4A4):c.747T>C (p.Gly249=) rs766511733 0.00002
NM_000092.5(COL4A4):c.861A>G (p.Pro287=) rs747613100 0.00002
NM_000092.5(COL4A4):c.105T>G (p.Tyr35Ter) rs756672670 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1119G>A (p.Gly373=) rs1394330953 0.00001
NM_000092.5(COL4A4):c.1143A>G (p.Thr381=) rs1226600856 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.1205-7C>T rs960256162 0.00001
NM_000092.5(COL4A4):c.1225C>T (p.Pro409Ser) rs377292825 0.00001
NM_000092.5(COL4A4):c.123G>C (p.Lys41Asn) rs1162611784 0.00001
NM_000092.5(COL4A4):c.1278G>A (p.Gly426=) rs762769213 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000092.5(COL4A4):c.1369+15A>C rs1216718864 0.00001
NM_000092.5(COL4A4):c.1370-4A>G rs1297917394 0.00001
NM_000092.5(COL4A4):c.1370-5G>T rs752509706 0.00001
NM_000092.5(COL4A4):c.1370-8C>T rs1438509454 0.00001
NM_000092.5(COL4A4):c.1370-9C>T rs757423567 0.00001
NM_000092.5(COL4A4):c.1377C>T (p.Tyr459=) rs376301372 0.00001
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=) rs771419084 0.00001
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.1494C>T (p.Pro498=) rs779981945 0.00001
NM_000092.5(COL4A4):c.153T>C (p.Asp51=) rs949977701 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.1587A>G (p.Pro529=) rs769741366 0.00001
NM_000092.5(COL4A4):c.1641T>G (p.Ser547=) rs1173764991 0.00001
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe) rs570529667 0.00001
NM_000092.5(COL4A4):c.1683A>G (p.Val561=) rs2059358476 0.00001
NM_000092.5(COL4A4):c.1692T>G (p.Val564=) rs766819581 0.00001
NM_000092.5(COL4A4):c.1722T>C (p.Asp574=) rs1415380548 0.00001
NM_000092.5(COL4A4):c.1743G>A (p.Gly581=) rs1288036171 0.00001
NM_000092.5(COL4A4):c.1746G>A (p.Gln582=) rs985432850 0.00001
NM_000092.5(COL4A4):c.1788G>A (p.Gly596=) rs377108110 0.00001
NM_000092.5(COL4A4):c.1806G>A (p.Gly602=) rs267599230 0.00001
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp) rs374340855 0.00001
NM_000092.5(COL4A4):c.1884G>A (p.Gly628=) rs761646265 0.00001
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) rs778345125 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 0.00001
NM_000092.5(COL4A4):c.193-6T>G rs975148812 0.00001
NM_000092.5(COL4A4):c.1947C>T (p.His649=) rs1378721742 0.00001
NM_000092.5(COL4A4):c.1961G>A (p.Gly654Asp) rs1158615890 0.00001
NM_000092.5(COL4A4):c.1988-3C>T rs752688851 0.00001
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010 0.00001
NM_000092.5(COL4A4):c.2049A>G (p.Gly683=) rs377610892 0.00001
NM_000092.5(COL4A4):c.2085T>C (p.Gly695=) rs750034156 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2109T>C (p.Asp703=) rs756788225 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg) rs202243658 0.00001
NM_000092.5(COL4A4):c.2193T>G (p.Gly731=) rs778524697 0.00001
NM_000092.5(COL4A4):c.2235C>T (p.Gly745=) rs1159625886 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2373A>G (p.Pro791=) rs774068275 0.00001
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val) rs377676207 0.00001
NM_000092.5(COL4A4):c.2379T>C (p.Ala793=) rs1976319114 0.00001
NM_000092.5(COL4A4):c.2383+3A>G rs1351961379 0.00001
NM_000092.5(COL4A4):c.2383+9G>C rs746435134 0.00001
NM_000092.5(COL4A4):c.2407C>T (p.Leu803=) rs762646235 0.00001
NM_000092.5(COL4A4):c.242C>A (p.Ala81Asp) rs747022394 0.00001
NM_000092.5(COL4A4):c.2436G>A (p.Glu812=) rs1331695045 0.00001
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982 0.00001
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=) rs767522216 0.00001
NM_000092.5(COL4A4):c.2517G>A (p.Pro839=) rs751351403 0.00001
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.2571G>A (p.Pro857=) rs759148219 0.00001
NM_000092.5(COL4A4):c.2595A>T (p.Pro865=) rs774896355 0.00001
NM_000092.5(COL4A4):c.2616C>T (p.Pro872=) rs1048042338 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.2619A>G (p.Gly873=) rs769770490 0.00001
NM_000092.5(COL4A4):c.261T>G (p.Leu87=) rs770559348 0.00001
NM_000092.5(COL4A4):c.2625A>T (p.Pro875=) rs559787579 0.00001
NM_000092.5(COL4A4):c.2628A>G (p.Gly876=) rs777707226 0.00001
NM_000092.5(COL4A4):c.2634T>C (p.Pro878=) rs778726024 0.00001
NM_000092.5(COL4A4):c.264A>G (p.Ser88=) rs746574978 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys) rs1440047357 0.00001
NM_000092.5(COL4A4):c.2716+13T>C rs1262586957 0.00001
NM_000092.5(COL4A4):c.2716+7A>G rs1975228366 0.00001
NM_000092.5(COL4A4):c.2717-6C>T rs1178831425 0.00001
NM_000092.5(COL4A4):c.2826C>G (p.Gly942=) rs1169574932 0.00001
NM_000092.5(COL4A4):c.2839C>T (p.Arg947Trp) rs572872038 0.00001
NM_000092.5(COL4A4):c.2861-9T>C rs1974314307 0.00001
NM_000092.5(COL4A4):c.2898T>A (p.Ala966=) rs900252227 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.3021C>T (p.Tyr1007=) rs746105339 0.00001
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) rs1450052915 0.00001
NM_000092.5(COL4A4):c.3159A>G (p.Pro1053=) rs1458514866 0.00001
NM_000092.5(COL4A4):c.3210T>G (p.Pro1070=) rs1334079530 0.00001
NM_000092.5(COL4A4):c.3214+6G>A rs372554120 0.00001
NM_000092.5(COL4A4):c.3290-6C>T rs915949778 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=) rs747784952 0.00001
NM_000092.5(COL4A4):c.3369T>G (p.Pro1123=) rs986546093 0.00001
NM_000092.5(COL4A4):c.3390G>T (p.Gly1130=) rs774821528 0.00001
NM_000092.5(COL4A4):c.3420G>A (p.Leu1140=) rs755709084 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala) rs371803356 0.00001
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=) rs774011820 0.00001
NM_000092.5(COL4A4):c.3506-8T>G rs761588725 0.00001
NM_000092.5(COL4A4):c.3510C>T (p.Pro1170=) rs1269458234 0.00001
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=) rs762812157 0.00001
NM_000092.5(COL4A4):c.3522T>G (p.Pro1174=) rs775477147 0.00001
NM_000092.5(COL4A4):c.3544T>C (p.Leu1182=) rs974232055 0.00001
NM_000092.5(COL4A4):c.3552T>C (p.Gly1184=) rs1575931514 0.00001
NM_000092.5(COL4A4):c.3577+14C>T rs370328730 0.00001
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) rs554736387 0.00001
NM_000092.5(COL4A4):c.3706+13A>G rs754923656 0.00001
NM_000092.5(COL4A4):c.375G>A (p.Gly125=) rs369753569 0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000092.5(COL4A4):c.3817+7G>A rs1968510366 0.00001
NM_000092.5(COL4A4):c.3828G>A (p.Gly1276=) rs765644543 0.00001
NM_000092.5(COL4A4):c.3918A>G (p.Pro1306=) rs777256419 0.00001
NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=) rs780675797 0.00001
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=) rs750748339 0.00001
NM_000092.5(COL4A4):c.3990G>A (p.Pro1330=) rs62189848 0.00001
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=) rs565940301 0.00001
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041 0.00001
NM_000092.5(COL4A4):c.4081+7T>C rs779775976 0.00001
NM_000092.5(COL4A4):c.4081+9C>G rs201688381 0.00001
NM_000092.5(COL4A4):c.4090+9T>G rs1403373167 0.00001
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4113T>C (p.Asp1371=) rs1226486231 0.00001
NM_000092.5(COL4A4):c.4116G>A (p.Val1372=) rs1210526365 0.00001
NM_000092.5(COL4A4):c.4122C>T (p.Asp1374=) rs117181365 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4191T>C (p.Pro1397=) rs574030269 0.00001
NM_000092.5(COL4A4):c.420C>T (p.Gly140=) rs373582793 0.00001
NM_000092.5(COL4A4):c.4217-9T>C rs1385812908 0.00001
NM_000092.5(COL4A4):c.4218G>T (p.Gly1406=) rs1329816117 0.00001
NM_000092.5(COL4A4):c.4263C>T (p.Gly1421=) rs750090423 0.00001
NM_000092.5(COL4A4):c.4272G>A (p.Gly1424=) rs751130458 0.00001
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro) rs764494474 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.438T>C (p.Gly146=) rs1345200624 0.00001
NM_000092.5(COL4A4):c.43T>C (p.Leu15=) rs747209259 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs) rs761200469 0.00001
NM_000092.5(COL4A4):c.4522+17G>A rs751572058 0.00001
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) rs1003748020 0.00001
NM_000092.5(COL4A4):c.4523-4C>A rs760600045 0.00001
NM_000092.5(COL4A4):c.4599T>C (p.Tyr1533=) rs369922627 0.00001
NM_000092.5(COL4A4):c.4611C>T (p.Asn1537=) rs1458127052 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 0.00001
NM_000092.5(COL4A4):c.4624T>C (p.Trp1542Arg) rs1161192021 0.00001
NM_000092.5(COL4A4):c.4635C>T (p.Ser1545=) rs562769008 0.00001
NM_000092.5(COL4A4):c.4668A>G (p.Glu1556=) rs769205335 0.00001
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982 0.00001
NM_000092.5(COL4A4):c.4692C>T (p.Ser1564=) rs1424670300 0.00001
NM_000092.5(COL4A4):c.4716G>A (p.Pro1572=) rs763806595 0.00001
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) rs760873029 0.00001
NM_000092.5(COL4A4):c.4764T>C (p.Cys1588=) rs1184642885 0.00001
NM_000092.5(COL4A4):c.4767G>A (p.Pro1589=) rs749368219 0.00001
NM_000092.5(COL4A4):c.4777A>C (p.Arg1593=) rs757200282 0.00001
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029 0.00001
NM_000092.5(COL4A4):c.4787G>A (p.Trp1596Ter) rs1222429942 0.00001
NM_000092.5(COL4A4):c.4791C>T (p.Ile1597=) rs752585800 0.00001
NM_000092.5(COL4A4):c.4794G>A (p.Gly1598=) rs764782090 0.00001
NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=) rs754693636 0.00001
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg) rs369714481 0.00001
NM_000092.5(COL4A4):c.483C>T (p.Gly161=) rs780643470 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.4910G>A (p.Arg1637Gln) rs937092831 0.00001
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg) rs749899964 0.00001
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666 0.00001
NM_000092.5(COL4A4):c.4956C>T (p.Leu1652=) rs759807783 0.00001
NM_000092.5(COL4A4):c.498T>G (p.Pro166=) rs775512192 0.00001
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968 0.00001
NM_000092.5(COL4A4):c.5019C>T (p.Ser1673=) rs753042648 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.5058C>T (p.Cys1686=) rs1485012691 0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060 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.559-9T>C rs1393612363 0.00001
NM_000092.5(COL4A4):c.594+18G>A rs746195437 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.618G>A (p.Pro206=) rs1412497152 0.00001
NM_000092.5(COL4A4):c.641G>A (p.Gly214Glu) rs2061038363 0.00001
NM_000092.5(COL4A4):c.657+8C>T rs748310077 0.00001
NM_000092.5(COL4A4):c.658-9T>C rs765980443 0.00001
NM_000092.5(COL4A4):c.673C>A (p.Pro225Thr) rs370606294 0.00001
NM_000092.5(COL4A4):c.675dup (p.Gly226fs) rs1553688335 0.00001
NM_000092.5(COL4A4):c.693+7A>G rs775757944 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000092.5(COL4A4):c.741G>A (p.Glu247=) rs759872208 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.780A>G (p.Val260=) rs769617858 0.00001
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) rs762043158 0.00001
NM_000092.5(COL4A4):c.871-6T>C rs749753913 0.00001
NM_000092.5(COL4A4):c.933G>A (p.Gly311=) rs778118362 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NC_000002.11:g.(?_227872031)_(227873030_?)del
NC_000002.11:g.(?_227872031)_(227985874_?)del
NC_000002.11:g.(?_227872041)_(227872324_?)del
NC_000002.11:g.(?_227886744)_(227890546_?)del
NC_000002.11:g.(?_227890498)_(227890546_?)del
NC_000002.11:g.(?_227892598)_(227974022_?)del
NC_000002.11:g.(?_227912181)_(227912275_?)del
NC_000002.11:g.(?_227914764)_(227917148_?)del
NC_000002.11:g.(?_227917001)_(227924979_?)del
NC_000002.11:g.(?_227922145)_(227927324_?)del
NC_000002.11:g.(?_227945139)_(227976449_?)del
NC_000002.11:g.(?_227945159)_(228012196_?)dup
NC_000002.11:g.(?_227946811)_(227954693_?)dup
NC_000002.11:g.(?_227946821)_(227946913_?)del
NC_000002.11:g.(?_227946821)_(227964415_?)dup
NC_000002.11:g.(?_227946831)_(227954673_?)dup
NC_000002.11:g.(?_227963400)_(227966635_?)del
NC_000002.11:g.(?_227973277)_(227974022_?)del
NC_000002.12:g.(?_227147403)_(227147493_?)del
NC_000002.12:g.227094281_227094290del rs2150688207
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.4(COL4A4):c.2385del rs1975778377
NM_000092.5(COL4A4):c.1005G>T (p.Gly335=)
NM_000092.5(COL4A4):c.1007T>C (p.Leu336Pro) rs2150773325
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp)
NM_000092.5(COL4A4):c.1028A>C (p.Lys343Thr)
NM_000092.5(COL4A4):c.1029+11A>G
NM_000092.5(COL4A4):c.1029+12G>A
NM_000092.5(COL4A4):c.1029+14C>T
NM_000092.5(COL4A4):c.1029+16A>G
NM_000092.5(COL4A4):c.1029+16A>T
NM_000092.5(COL4A4):c.1029+7A>T
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1030-8G>C rs1482188865
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1046G>A (p.Arg349Gln)
NM_000092.5(COL4A4):c.1048G>A (p.Gly350Arg)
NM_000092.5(COL4A4):c.1050G>A (p.Gly350=) rs2060398282
NM_000092.5(COL4A4):c.1051C>T (p.His351Tyr)
NM_000092.5(COL4A4):c.105T>C (p.Tyr35=)
NM_000092.5(COL4A4):c.1068T>A (p.Gly356=) rs2150749682
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe) rs374680846
NM_000092.5(COL4A4):c.1087C>T (p.Leu363Phe)
NM_000092.5(COL4A4):c.1091C>T (p.Pro364Leu)
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1099+10C>G
NM_000092.5(COL4A4):c.1099+11C>G
NM_000092.5(COL4A4):c.1099+13A>C
NM_000092.5(COL4A4):c.1099+16C>T
NM_000092.5(COL4A4):c.1099+1G>A
NM_000092.5(COL4A4):c.1099+1G>T rs1372782305
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) rs764981982
NM_000092.5(COL4A4):c.1100-11del
NM_000092.5(COL4A4):c.1100-12del rs752715532
NM_000092.5(COL4A4):c.1100-14A>C
NM_000092.5(COL4A4):c.1100-20T>G
NM_000092.5(COL4A4):c.1100-3C>T
NM_000092.5(COL4A4):c.1100-4G>A rs375731786
NM_000092.5(COL4A4):c.1100-5G>C rs960395686
NM_000092.5(COL4A4):c.1100-9C>T
NM_000092.5(COL4A4):c.1101C>A (p.Gly367=)
NM_000092.5(COL4A4):c.1101C>T (p.Gly367=)
NM_000092.5(COL4A4):c.1108G>C (p.Gly370Arg)
NM_000092.5(COL4A4):c.1111G>T (p.Asp371Tyr)
NM_000092.5(COL4A4):c.1113C>T (p.Asp371=) rs879099109
NM_000092.5(COL4A4):c.111T>C (p.Tyr37=)
NM_000092.5(COL4A4):c.1122C>T (p.Phe374=) rs2150740265
NM_000092.5(COL4A4):c.114+12C>G
NM_000092.5(COL4A4):c.114+12C>T
NM_000092.5(COL4A4):c.114+14C>A
NM_000092.5(COL4A4):c.114+1G>A
NM_000092.5(COL4A4):c.114+1G>T rs1553712110
NM_000092.5(COL4A4):c.114+8C>T
NM_000092.5(COL4A4):c.114+9A>G rs2125347322
NM_000092.5(COL4A4):c.1143_1144del (p.Asp383fs) rs2150739953
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg) rs2150739928
NM_000092.5(COL4A4):c.1146G>A (p.Gly382=)
NM_000092.5(COL4A4):c.1148A>G (p.Asp383Gly)
NM_000092.5(COL4A4):c.115-15T>C
NM_000092.5(COL4A4):c.1156C>T (p.Pro386Ser)
NM_000092.5(COL4A4):c.1158A>G (p.Pro386=)
NM_000092.5(COL4A4):c.1159C>T (p.Pro387Ser) rs1351733260
NM_000092.5(COL4A4):c.1161dup (p.Gly388fs) rs1576486164
NM_000092.5(COL4A4):c.1162G>A (p.Gly388Ser)
NM_000092.5(COL4A4):c.1167C>T (p.Pro389=)
NM_000092.5(COL4A4):c.1169del (p.Pro390fs)
NM_000092.5(COL4A4):c.1170A>G (p.Pro390=) rs2150739513
NM_000092.5(COL4A4):c.1172del (p.Gly391fs)
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=) rs759536932
NM_000092.5(COL4A4):c.1177T>C (p.Leu393=) rs2150739423
NM_000092.5(COL4A4):c.1180G>A (p.Gly394Ser) rs2150739370
NM_000092.5(COL4A4):c.1182C>A (p.Gly394=) rs2150739342
NM_000092.5(COL4A4):c.1182C>T (p.Gly394=)
NM_000092.5(COL4A4):c.1188A>T (p.Pro396=) rs2150739288
NM_000092.5(COL4A4):c.118G>T (p.Gly40Ter) rs2125292585
NM_000092.5(COL4A4):c.1191G>A (p.Gly397=)
NM_000092.5(COL4A4):c.1200dup (p.Ala401fs) rs2150739132
NM_000092.5(COL4A4):c.1204+10C>T
NM_000092.5(COL4A4):c.1204+20C>G
NM_000092.5(COL4A4):c.1204+5G>A rs748967270
NM_000092.5(COL4A4):c.1204+7A>G rs2060338870
NM_000092.5(COL4A4):c.1204+8T>C rs2150738888
NM_000092.5(COL4A4):c.1204+9G>A rs2060338704
NM_000092.5(COL4A4):c.1205-19T>C
NM_000092.5(COL4A4):c.1205-20A>G
NM_000092.5(COL4A4):c.120A>C (p.Gly40=) rs2063106287
NM_000092.5(COL4A4):c.1215A>T (p.Gly405=)
NM_000092.5(COL4A4):c.1218C>T (p.Pro406=) rs769362865
NM_000092.5(COL4A4):c.1220del (p.Pro407fs) rs1396423880
NM_000092.5(COL4A4):c.1221_1237del (p.Gly408fs) rs1559606445
NM_000092.5(COL4A4):c.1221del (p.Pro409fs) rs1576457876
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs) rs2150687684
NM_000092.5(COL4A4):c.1226C>T (p.Pro409Leu)
NM_000092.5(COL4A4):c.1228C>G (p.Gln410Glu)
NM_000092.5(COL4A4):c.1229A>G (p.Gln410Arg)
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp) rs2150687507
NM_000092.5(COL4A4):c.1242T>G (p.Gly414=)
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile)
NM_000092.5(COL4A4):c.1247del (p.Pro416fs) rs2150687380
NM_000092.5(COL4A4):c.1251G>C (p.Gly417=) rs1318832633
NM_000092.5(COL4A4):c.1269T>G (p.Gly423=)
NM_000092.5(COL4A4):c.1275T>A (p.Pro425=) rs774374892
NM_000092.5(COL4A4):c.1277G>A (p.Gly426Glu)
NM_000092.5(COL4A4):c.1287T>C (p.Asp429=)
NM_000092.5(COL4A4):c.1292C>T (p.Ala431Val)
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del) rs1362664502
NM_000092.5(COL4A4):c.1304C>A (p.Pro435Gln)
NM_000092.5(COL4A4):c.1311G>A (p.Lys437=) rs2150686372
NM_000092.5(COL4A4):c.1317A>T (p.Gly439=)
NM_000092.5(COL4A4):c.1320A>G (p.Ser440=) rs2150686233
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr) rs2150686207
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.132T>C (p.Ile44=) rs2125292322
NM_000092.5(COL4A4):c.1347G>A (p.Leu449=) rs746533101
NM_000092.5(COL4A4):c.1356C>T (p.Leu452=) rs2150685653
NM_000092.5(COL4A4):c.1361G>C (p.Gly454Ala) rs2150685500
NM_000092.5(COL4A4):c.1365A>G (p.Ser455=) rs200778061
NM_000092.5(COL4A4):c.1366del (p.Ser456fs)
NM_000092.5(COL4A4):c.1369+10T>G rs2060083691
NM_000092.5(COL4A4):c.1369+12C>T
NM_000092.5(COL4A4):c.1369+12_1369+14del
NM_000092.5(COL4A4):c.1369+14T>C
NM_000092.5(COL4A4):c.1369+17_1369+20del
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1369+20T>A
NM_000092.5(COL4A4):c.1369+9C>T rs2150685269
NM_000092.5(COL4A4):c.136C>A (p.Pro46Thr)
NM_000092.5(COL4A4):c.1370-11C>T
NM_000092.5(COL4A4):c.1370-16del
NM_000092.5(COL4A4):c.1370-17C>A rs369350196
NM_000092.5(COL4A4):c.1370-2A>C
NM_000092.5(COL4A4):c.1370-2A>G rs2059823776
NM_000092.5(COL4A4):c.1370-5G>C rs752509706
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1389G>A (p.Gly463=)
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.138T>C (p.Pro46=)
NM_000092.5(COL4A4):c.1401A>G (p.Pro467=) rs1168152903
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) rs2059821994
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=) rs774673142
NM_000092.5(COL4A4):c.1413A>T (p.Lys471Asn)
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys) rs1371408968
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1426C>A (p.Pro476Thr) rs780544830
NM_000092.5(COL4A4):c.1430del (p.Pro477fs)
NM_000092.5(COL4A4):c.1433G>A (p.Gly478Glu)
NM_000092.5(COL4A4):c.1440del (p.Gly481fs) rs2150616126
NM_000092.5(COL4A4):c.1443C>A (p.Gly481=) rs1204380807
NM_000092.5(COL4A4):c.1449dup (p.Gly484fs) rs2150615820
NM_000092.5(COL4A4):c.1455A>G (p.Glu485=) rs1576428284
NM_000092.5(COL4A4):c.1459+12C>A
NM_000092.5(COL4A4):c.1459+13C>A
NM_000092.5(COL4A4):c.1459+16dup rs763434195
NM_000092.5(COL4A4):c.1459+1G>A
NM_000092.5(COL4A4):c.1459+9G>A rs1171035119
NM_000092.5(COL4A4):c.1460-12T>A
NM_000092.5(COL4A4):c.1460-13A>T
NM_000092.5(COL4A4):c.1460-14G>A
NM_000092.5(COL4A4):c.1460-17A>T
NM_000092.5(COL4A4):c.1460-19C>T
NM_000092.5(COL4A4):c.1460-1G>C rs2150597099
NM_000092.5(COL4A4):c.1460-4C>T rs1401402281
NM_000092.5(COL4A4):c.1460-7del
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs) rs2150596830
NM_000092.5(COL4A4):c.1477G>T (p.Ala493Ser)
NM_000092.5(COL4A4):c.1485G>A (p.Glu495=) rs1158458468
NM_000092.5(COL4A4):c.1491A>G (p.Gly497=) rs2059738609
NM_000092.5(COL4A4):c.1500C>T (p.Gly500=) rs2150596396
NM_000092.5(COL4A4):c.1504C>G (p.Pro502Ala)
NM_000092.5(COL4A4):c.1505C>G (p.Pro502Arg)
NM_000092.5(COL4A4):c.1508G>T (p.Gly503Val) rs2059737659
NM_000092.5(COL4A4):c.1509C>T (p.Gly503=) rs759563620
NM_000092.5(COL4A4):c.1512T>A (p.Pro504=)
NM_000092.5(COL4A4):c.1524T>C (p.Pro508=)
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) rs2150595867
NM_000092.5(COL4A4):c.1533G>A (p.Gln511=)
NM_000092.5(COL4A4):c.1536G>A (p.Gly512=) rs1384191584
NM_000092.5(COL4A4):c.1536G>C (p.Gly512=) rs1384191584
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu) rs564334744
NM_000092.5(COL4A4):c.1554G>A (p.Gly518=) rs1162277153
NM_000092.5(COL4A4):c.1555C>G (p.Leu519Val)
NM_000092.5(COL4A4):c.1557C>A (p.Leu519=)
NM_000092.5(COL4A4):c.1560T>C (p.Pro520=) rs374935235
NM_000092.5(COL4A4):c.1567C>T (p.Leu523Phe)
NM_000092.5(COL4A4):c.156C>A (p.Cys52Ter) rs2125291854
NM_000092.5(COL4A4):c.1573A>G (p.Thr525Ala)
NM_000092.5(COL4A4):c.1575A>G (p.Thr525=)
NM_000092.5(COL4A4):c.1579G>C (p.Gly527Arg)
NM_000092.5(COL4A4):c.1580G>A (p.Gly527Asp) rs1358624171
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1584C>T (p.Asp528=) rs1251758935
NM_000092.5(COL4A4):c.1591C>T (p.Pro531Ser)
NM_000092.5(COL4A4):c.1596T>C (p.Pro532=)
NM_000092.5(COL4A4):c.1614A>G (p.Pro538=)
NM_000092.5(COL4A4):c.1617G>A (p.Gly539=)
NM_000092.5(COL4A4):c.1620A>G (p.Leu540=)
NM_000092.5(COL4A4):c.1623+14A>G
NM_000092.5(COL4A4):c.1623+16C>A
NM_000092.5(COL4A4):c.1623+18G>C
NM_000092.5(COL4A4):c.1623+19T>G
NM_000092.5(COL4A4):c.1623+3G>C
NM_000092.5(COL4A4):c.1623+7A>G
NM_000092.5(COL4A4):c.1624-18C>G
NM_000092.5(COL4A4):c.1624-5C>T rs2150524085
NM_000092.5(COL4A4):c.1624-6A>T rs2150524108
NM_000092.5(COL4A4):c.1624-8del
NM_000092.5(COL4A4):c.1624-8dup
NM_000092.5(COL4A4):c.1629G>A (p.Lys543=)
NM_000092.5(COL4A4):c.1634G>T (p.Gly545Val)
NM_000092.5(COL4A4):c.1638C>T (p.Ala546=) rs1373604372
NM_000092.5(COL4A4):c.1644A>G (p.Gly548=)
NM_000092.5(COL4A4):c.1649_1656del (p.Pro550fs)
NM_000092.5(COL4A4):c.1656C>T (p.Asn552=)
NM_000092.5(COL4A4):c.165C>T (p.Cys55=)
NM_000092.5(COL4A4):c.1662G>C (p.Gly554=) rs1399050739
NM_000092.5(COL4A4):c.1690G>A (p.Val564Ile)
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1696+1del rs2150523233
NM_000092.5(COL4A4):c.1696+9A>C rs1256605065
NM_000092.5(COL4A4):c.1697-10C>A rs2150506701
NM_000092.5(COL4A4):c.1697-10C>G rs2150506701
NM_000092.5(COL4A4):c.1697-11T>C
NM_000092.5(COL4A4):c.1697-13C>T
NM_000092.5(COL4A4):c.1697-14A>G
NM_000092.5(COL4A4):c.1697-6T>C
NM_000092.5(COL4A4):c.1697-8_1697-7del
NM_000092.5(COL4A4):c.1700A>G (p.His567Arg) rs2150506568
NM_000092.5(COL4A4):c.1706del (p.Gly569fs)
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.5(COL4A4):c.1716del (p.Pro573fs)
NM_000092.5(COL4A4):c.1718C>T (p.Pro573Leu)
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.1728C>T (p.Pro576=) rs2150506213
NM_000092.5(COL4A4):c.1730dup (p.Gly578fs)
NM_000092.5(COL4A4):c.1733G>T (p.Gly578Val)
NM_000092.5(COL4A4):c.1749A>G (p.Pro583=)
NM_000092.5(COL4A4):c.1750G>A (p.Gly584Arg)
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
NM_000092.5(COL4A4):c.1761T>C (p.Gly587=)
NM_000092.5(COL4A4):c.1762C>T (p.Arg588Trp)
NM_000092.5(COL4A4):c.1763G>A (p.Arg588Gln)
NM_000092.5(COL4A4):c.1764G>A (p.Arg588=)
NM_000092.5(COL4A4):c.1768G>T (p.Gly590Ter) rs2150505661
NM_000092.5(COL4A4):c.1772A>C (p.His591Pro)
NM_000092.5(COL4A4):c.1778G>A (p.Gly593Glu)
NM_000092.5(COL4A4):c.1785A>G (p.Lys595=)
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1788G>C (p.Gly596=) rs377108110
NM_000092.5(COL4A4):c.1791T>C (p.Asp597=) rs2150505253
NM_000092.5(COL4A4):c.1794A>G (p.Pro598=)
NM_000092.5(COL4A4):c.1800T>G (p.Pro600=) rs2150505064
NM_000092.5(COL4A4):c.1804-11A>T
NM_000092.5(COL4A4):c.1804-13A>G
NM_000092.5(COL4A4):c.1804-2del
NM_000092.5(COL4A4):c.1804-4C>A rs1464857860
NM_000092.5(COL4A4):c.1804-4C>T rs1464857860
NM_000092.5(COL4A4):c.1804-5C>G
NM_000092.5(COL4A4):c.1804-7T>G rs2150477819
NM_000092.5(COL4A4):c.1805G>A (p.Gly602Glu)
NM_000092.5(COL4A4):c.1811A>G (p.His604Arg)
NM_000092.5(COL4A4):c.1821G>C (p.Ala607=) rs114684841
NM_000092.5(COL4A4):c.1824C>T (p.Thr608=) rs777982441
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala) rs1263397268
NM_000092.5(COL4A4):c.1827A>G (p.Pro609=) rs2059127590
NM_000092.5(COL4A4):c.1829G>A (p.Gly610Asp) rs2150477193
NM_000092.5(COL4A4):c.182dup (p.Ser63fs)
NM_000092.5(COL4A4):c.1830T>C (p.Gly610=) rs2150477164
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser) rs758860164
NM_000092.5(COL4A4):c.1833T>A (p.Gly611=)
NM_000092.5(COL4A4):c.1839A>G (p.Gly613=)
NM_000092.5(COL4A4):c.1839A>T (p.Gly613=)
NM_000092.5(COL4A4):c.1852C>T (p.Leu618=) rs755071737
NM_000092.5(COL4A4):c.1855G>A (p.Gly619Ser) rs2150476860
NM_000092.5(COL4A4):c.1856_1857insT (p.Gly622fs)
NM_000092.5(COL4A4):c.1857C>A (p.Gly619=) rs766619245
NM_000092.5(COL4A4):c.1857C>G (p.Gly619=) rs766619245
NM_000092.5(COL4A4):c.1857C>T (p.Gly619=) rs766619245
NM_000092.5(COL4A4):c.185_186dup (p.Ser63fs) rs2125291573
NM_000092.5(COL4A4):c.1862del (p.Pro621fs) rs2150476732
NM_000092.5(COL4A4):c.1865G>A (p.Gly622Asp)
NM_000092.5(COL4A4):c.186G>C (p.Gly62=)
NM_000092.5(COL4A4):c.1877C>T (p.Pro626Leu) rs1468423581
NM_000092.5(COL4A4):c.1881G>C (p.Val627=) rs1358710021
NM_000092.5(COL4A4):c.1884G>T (p.Gly628=) rs761646265
NM_000092.5(COL4A4):c.1887C>G (p.Pro629=)
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.1891G>T (p.Gly631Ter)
NM_000092.5(COL4A4):c.1905T>C (p.Pro635=)
NM_000092.5(COL4A4):c.1909C>T (p.Pro637Ser)
NM_000092.5(COL4A4):c.1911A>C (p.Pro637=) rs769466087
NM_000092.5(COL4A4):c.192+10G>A rs2125291249
NM_000092.5(COL4A4):c.192+15G>A
NM_000092.5(COL4A4):c.192+15G>T
NM_000092.5(COL4A4):c.192+18C>T
NM_000092.5(COL4A4):c.192+1G>T rs2125291407
NM_000092.5(COL4A4):c.192+3A>G
NM_000092.5(COL4A4):c.192+5G>A
NM_000092.5(COL4A4):c.192+7G>A
NM_000092.5(COL4A4):c.192+9T>A rs951832555
NM_000092.5(COL4A4):c.192+9T>C rs951832555
NM_000092.5(COL4A4):c.1920G>A (p.Glu640=) rs772923694
NM_000092.5(COL4A4):c.193-11T>G
NM_000092.5(COL4A4):c.193-15A>T
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.193-5C>A
NM_000092.5(COL4A4):c.193-9C>T rs190570269
NM_000092.5(COL4A4):c.1932A>G (p.Pro644=)
NM_000092.5(COL4A4):c.1944C>A (p.Gly648=) rs1320934340
NM_000092.5(COL4A4):c.1952G>A (p.Gly651Asp) rs2059121113
NM_000092.5(COL4A4):c.1953T>C (p.Gly651=)
NM_000092.5(COL4A4):c.1956G>A (p.Val652=) rs2150475372
NM_000092.5(COL4A4):c.1959G>A (p.Arg653=)
NM_000092.5(COL4A4):c.1962C>A (p.Gly654=) rs376448360
NM_000092.5(COL4A4):c.1966del (p.Asp656fs) rs2150475193
NM_000092.5(COL4A4):c.1968T>C (p.Asp656=) rs1559562624
NM_000092.5(COL4A4):c.196C>T (p.Pro66Ser)
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn)
NM_000092.5(COL4A4):c.1987+13A>C
NM_000092.5(COL4A4):c.1987+13_1987+15del
NM_000092.5(COL4A4):c.1987+15A>T
NM_000092.5(COL4A4):c.1987+15dup rs754189803
NM_000092.5(COL4A4):c.1987+17T>A
NM_000092.5(COL4A4):c.1987+18T>G rs2150474510
NM_000092.5(COL4A4):c.1987+19T>G
NM_000092.5(COL4A4):c.1987+20A>G
NM_000092.5(COL4A4):c.1987+9A>T rs756222520
NM_000092.5(COL4A4):c.1988-13T>C
NM_000092.5(COL4A4):c.1988-13_1988-9del rs1977413136
NM_000092.5(COL4A4):c.1988-20C>T
NM_000092.5(COL4A4):c.1988-2A>T rs1576238292
NM_000092.5(COL4A4):c.1988-4G>A rs758331938
NM_000092.5(COL4A4):c.1988-7A>C rs781167410
NM_000092.5(COL4A4):c.1988-8_1988-7del rs2150313015
NM_000092.5(COL4A4):c.1996A>G (p.Ile666Val)
NM_000092.5(COL4A4):c.2001T>C (p.Ser667=)
NM_000092.5(COL4A4):c.201A>G (p.Pro67=) rs2125038172
NM_000092.5(COL4A4):c.2022G>A (p.Gly674=)
NM_000092.5(COL4A4):c.2023A>G (p.Arg675Gly)
NM_000092.5(COL4A4):c.2023A>T (p.Arg675Trp) rs1018765959
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg)
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser) rs1977400475
NM_000092.5(COL4A4):c.2056+12G>T
NM_000092.5(COL4A4):c.2056+16A>G
NM_000092.5(COL4A4):c.2056+17G>T
NM_000092.5(COL4A4):c.2056+7T>C rs2150312197
NM_000092.5(COL4A4):c.2057-12A>G
NM_000092.5(COL4A4):c.2057-1G>A rs2150288556
NM_000092.5(COL4A4):c.2057-8T>A rs2150288621
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2058T>A (p.Gly686=)
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
NM_000092.5(COL4A4):c.2061G>C (p.Pro687=) rs558925851
NM_000092.5(COL4A4):c.2082A>G (p.Gln694=) rs2150288135
NM_000092.5(COL4A4):c.2085T>G (p.Gly695=)
NM_000092.5(COL4A4):c.2106A>G (p.Ser702=) rs2150287890
NM_000092.5(COL4A4):c.210A>G (p.Pro70=)
NM_000092.5(COL4A4):c.2115T>A (p.His705Gln)
NM_000092.5(COL4A4):c.2122A>C (p.Arg708=) rs765570194
NM_000092.5(COL4A4):c.2131A>G (p.Thr711Ala)
NM_000092.5(COL4A4):c.2133A>C (p.Thr711=)
NM_000092.5(COL4A4):c.2133A>G (p.Thr711=)
NM_000092.5(COL4A4):c.2135C>T (p.Pro712Leu)
NM_000092.5(COL4A4):c.213G>T (p.Gly71=)
NM_000092.5(COL4A4):c.2151A>C (p.Ile717=) rs2150287283
NM_000092.5(COL4A4):c.2154A>G (p.Pro718=) rs2150287159
NM_000092.5(COL4A4):c.2157T>C (p.Gly719=)
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs) rs1976595425
NM_000092.5(COL4A4):c.2164+10G>T rs1292457932
NM_000092.5(COL4A4):c.2164+11_2164+12insTGTTTTT
NM_000092.5(COL4A4):c.2164+12T>G
NM_000092.5(COL4A4):c.2164+13_2164+14insTTTGT
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTTG rs775187787
NM_000092.5(COL4A4):c.2164+16_2164+17insTTTG
NM_000092.5(COL4A4):c.2164+16_2164+17insTTTTG rs1976575882
NM_000092.5(COL4A4):c.2164+16_2164+17insTTTTTG
NM_000092.5(COL4A4):c.2164+17T>G
NM_000092.5(COL4A4):c.2164+17_2164+18insTTTTG
NM_000092.5(COL4A4):c.2164+18T>G
NM_000092.5(COL4A4):c.2164+19T>G
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG rs749658792
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTTG
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTTTTTG
NM_000092.5(COL4A4):c.2164+20T>G
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.2164+9G>A rs1467377093
NM_000092.5(COL4A4):c.2165-12G>A
NM_000092.5(COL4A4):c.2165-12G>T
NM_000092.5(COL4A4):c.2165-12_2165-11dup
NM_000092.5(COL4A4):c.2165-12del
NM_000092.5(COL4A4):c.2165-13T>C
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2165-13dup
NM_000092.5(COL4A4):c.2165-14T>C
NM_000092.5(COL4A4):c.2165-14_2165-13dup
NM_000092.5(COL4A4):c.2165-15T>C
NM_000092.5(COL4A4):c.2165-15_2165-14insG
NM_000092.5(COL4A4):c.2165-20T>C
NM_000092.5(COL4A4):c.2165-4A>G rs776551903
NM_000092.5(COL4A4):c.2165-9_2165-7del rs755921867
NM_000092.5(COL4A4):c.2168_2169dup (p.Arg724fs) rs2150277252
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000092.5(COL4A4):c.2175T>C (p.Gly725=) rs1218628637
NM_000092.5(COL4A4):c.2184A>G (p.Gly728=) rs2150276802
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu)
NM_000092.5(COL4A4):c.2190G>A (p.Pro730=) rs998610773
NM_000092.5(COL4A4):c.2190G>C (p.Pro730=)
NM_000092.5(COL4A4):c.2191G>C (p.Gly731Arg)
NM_000092.5(COL4A4):c.2196del (p.Phe732fs) rs2150276476
NM_000092.5(COL4A4):c.21A>G (p.Val7=) rs1237396954
NM_000092.5(COL4A4):c.2211G>T (p.Gly737=) rs1329616730
NM_000092.5(COL4A4):c.2214C>A (p.Ser738=) rs766664698
NM_000092.5(COL4A4):c.2215_2236del (p.Ser739fs) rs2150275655
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser)
NM_000092.5(COL4A4):c.2219_2220del (p.Pro740fs) rs2150276003
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2224G>A (p.Gly742Arg)
NM_000092.5(COL4A4):c.2226G>A (p.Gly742=)
NM_000092.5(COL4A4):c.2229C>A (p.Pro743=)
NM_000092.5(COL4A4):c.2229C>T (p.Pro743=)
NM_000092.5(COL4A4):c.2232A>G (p.Pro744=)
NM_000092.5(COL4A4):c.2232dup (p.Gly745fs) rs1976356392
NM_000092.5(COL4A4):c.2241C>G (p.Pro747=)
NM_000092.5(COL4A4):c.2246C>T (p.Ser749Leu)
NM_000092.5(COL4A4):c.2250A>G (p.Pro750=) rs2150275421
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter) rs2150275391
NM_000092.5(COL4A4):c.226A>G (p.Ile76Val)
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu)
NM_000092.5(COL4A4):c.2277G>A (p.Pro759=) rs376082013
NM_000092.5(COL4A4):c.2277G>T (p.Pro759=) rs376082013
NM_000092.5(COL4A4):c.227_231del (p.Ile76fs) rs2061758031
NM_000092.5(COL4A4):c.2280A>C (p.Gly760=) rs2150275012
NM_000092.5(COL4A4):c.2283C>T (p.Asp761=) rs2150274944
NM_000092.5(COL4A4):c.2289A>G (p.Ala763=) rs2150274879
NM_000092.5(COL4A4):c.228T>C (p.Ile76=)
NM_000092.5(COL4A4):c.2304A>T (p.Gly768=)
NM_000092.5(COL4A4):c.2307C>A (p.Pro769=) rs748339903
NM_000092.5(COL4A4):c.2307C>G (p.Pro769=) rs748339903
NM_000092.5(COL4A4):c.2307C>T (p.Pro769=) rs748339903
NM_000092.5(COL4A4):c.2309C>T (p.Pro770Leu)
NM_000092.5(COL4A4):c.2312del (p.Gly771fs)
NM_000092.5(COL4A4):c.2319G>A (p.Arg773=) rs200920187
NM_000092.5(COL4A4):c.2320G>A (p.Gly774Ser)
NM_000092.5(COL4A4):c.2322T>C (p.Gly774=)
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) rs762682812
NM_000092.5(COL4A4):c.2335C>T (p.Pro779Ser)
NM_000092.5(COL4A4):c.2340G>A (p.Gly780=)
NM_000092.5(COL4A4):c.2349A>T (p.Gly783=) rs2150273708
NM_000092.5(COL4A4):c.234C>T (p.Pro78=) rs2125037498
NM_000092.5(COL4A4):c.2353A>C (p.Arg785=)
NM_000092.5(COL4A4):c.2361T>C (p.Asp787=)
NM_000092.5(COL4A4):c.2367A>G (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.236_252del (p.Leu79fs)
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.5(COL4A4):c.2376G>A (p.Gly792=) rs2150273199
NM_000092.5(COL4A4):c.2377G>A (p.Ala793Thr)
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2383+15C>G
NM_000092.5(COL4A4):c.2383+17G>A
NM_000092.5(COL4A4):c.2383+18T>C
NM_000092.5(COL4A4):c.2383+20del
NM_000092.5(COL4A4):c.2383+9G>A rs746435134
NM_000092.5(COL4A4):c.2384-10A>G
NM_000092.5(COL4A4):c.2384-12G>T
NM_000092.5(COL4A4):c.2384-14T>C
NM_000092.5(COL4A4):c.2384-18T>C
NM_000092.5(COL4A4):c.2384-6T>C rs2150251834
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly)
NM_000092.5(COL4A4):c.2400T>G (p.Pro800=) rs1294981972
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2409A>G (p.Leu803=)
NM_000092.5(COL4A4):c.2428G>A (p.Gly810Ser) rs1975763905
NM_000092.5(COL4A4):c.2432G>C (p.Arg811Thr)
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu) rs2150251009
NM_000092.5(COL4A4):c.243C>T (p.Ala81=)
NM_000092.5(COL4A4):c.2454A>G (p.Pro818=)
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.2463A>G (p.Pro821=)
NM_000092.5(COL4A4):c.246A>G (p.Pro82=) rs2125037107
NM_000092.5(COL4A4):c.2472T>C (p.Pro824=)
NM_000092.5(COL4A4):c.2474G>A (p.Gly825Asp)
NM_000092.5(COL4A4):c.2475C>A (p.Gly825=)
NM_000092.5(COL4A4):c.2475C>T (p.Gly825=) rs1456612456
NM_000092.5(COL4A4):c.2479T>C (p.Ser827Pro)
NM_000092.5(COL4A4):c.2488del (p.Arg830fs)
NM_000092.5(COL4A4):c.2496T>C (p.Ala832=) rs2150250276
NM_000092.5(COL4A4):c.2508A>C (p.Pro836=) rs1975731142
NM_000092.5(COL4A4):c.2520A>T (p.Gly840=) rs1045526240
NM_000092.5(COL4A4):c.2529G>A (p.Gly843=) rs886038229
NM_000092.5(COL4A4):c.2529G>T (p.Gly843=) rs886038229
NM_000092.5(COL4A4):c.2531_2537del (p.Tyr844fs) rs2150249648
NM_000092.5(COL4A4):c.2533C>T (p.Pro845Ser)
NM_000092.5(COL4A4):c.2545+18T>C
NM_000092.5(COL4A4):c.2545+1G>A
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2545+9C>G rs2150249516
NM_000092.5(COL4A4):c.2546-11G>A
NM_000092.5(COL4A4):c.2546-16C>T
NM_000092.5(COL4A4):c.2546-18C>G
NM_000092.5(COL4A4):c.2546-1G>A
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2546-5C>G
NM_000092.5(COL4A4):c.2556T>C (p.Gly852=)
NM_000092.5(COL4A4):c.2568G>A (p.Gln856=) rs1576176604
NM_000092.5(COL4A4):c.2574A>C (p.Gly858=) rs1975267171
NM_000092.5(COL4A4):c.2583G>A (p.Gly861=)
NM_000092.5(COL4A4):c.2583G>C (p.Gly861=)
NM_000092.5(COL4A4):c.2585C>G (p.Pro862Arg)
NM_000092.5(COL4A4):c.2607A>G (p.Lys869=) rs1406834186
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe) rs910142548
NM_000092.5(COL4A4):c.2616del (p.Gly873fs)
NM_000092.5(COL4A4):c.2619A>T (p.Gly873=)
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_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly)
NM_000092.5(COL4A4):c.2631G>T (p.Arg877=)
NM_000092.5(COL4A4):c.2634T>G (p.Pro878=) rs778726024
NM_000092.5(COL4A4):c.2635G>A (p.Gly879Arg)
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.263C>T (p.Ser88Leu)
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr) rs200761108
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp) rs1425028482
NM_000092.5(COL4A4):c.2656dup (p.Leu886fs)
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala)
NM_000092.5(COL4A4):c.2668C>T (p.Pro890Ser)
NM_000092.5(COL4A4):c.2682A>C (p.Gly894=) rs1576175164
NM_000092.5(COL4A4):c.2685T>C (p.Asp895=)
NM_000092.5(COL4A4):c.2691G>A (p.Gly897=)
NM_000092.5(COL4A4):c.26T>C (p.Met9Thr)
NM_000092.5(COL4A4):c.2709T>A (p.Gly903=) rs2150234177
NM_000092.5(COL4A4):c.2712A>G (p.Pro904=) rs1576174956
NM_000092.5(COL4A4):c.2716+10G>A rs1487588097
NM_000092.5(COL4A4):c.2716+11C>A
NM_000092.5(COL4A4):c.2716+12T>A
NM_000092.5(COL4A4):c.2716+20T>C
NM_000092.5(COL4A4):c.2716+2T>A
NM_000092.5(COL4A4):c.2717-15C>T
NM_000092.5(COL4A4):c.2717-16_2717-15delinsAA rs2150221626
NM_000092.5(COL4A4):c.2717-2A>G rs2150221409
NM_000092.5(COL4A4):c.2721C>T (p.Pro907=)
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
NM_000092.5(COL4A4):c.2723G>A (p.Arg908Gln)
NM_000092.5(COL4A4):c.2724G>T (p.Arg908=) rs1159655829
NM_000092.5(COL4A4):c.2726G>T (p.Gly909Val)
NM_000092.5(COL4A4):c.2727G>A (p.Gly909=) rs562770163
NM_000092.5(COL4A4):c.2730G>A (p.Leu910=) rs2150221087
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
NM_000092.5(COL4A4):c.2742A>G (p.Pro914=) rs2150220933
NM_000092.5(COL4A4):c.2753del (p.Gly918fs) rs2150220718
NM_000092.5(COL4A4):c.275G>A (p.Gly92Glu) rs2125036772
NM_000092.5(COL4A4):c.2762del (p.Gly921fs) rs1974906528
NM_000092.5(COL4A4):c.2766G>C (p.Lys922Asn)
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
NM_000092.5(COL4A4):c.2781A>G (p.Gly927=) rs1576163418
NM_000092.5(COL4A4):c.2781A>T (p.Gly927=) rs1576163418
NM_000092.5(COL4A4):c.2784T>C (p.Cys928=)
NM_000092.5(COL4A4):c.2787T>C (p.Pro929=)
NM_000092.5(COL4A4):c.2790C>A (p.Gly930=)
NM_000092.5(COL4A4):c.2790C>T (p.Gly930=) rs768448299
NM_000092.5(COL4A4):c.2794A>T (p.Lys932Ter)
NM_000092.5(COL4A4):c.2802A>G (p.Glu934=)
NM_000092.5(COL4A4):c.2803C>A (p.Pro935Thr)
NM_000092.5(COL4A4):c.2804C>T (p.Pro935Leu)
NM_000092.5(COL4A4):c.2826C>A (p.Gly942=)
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.282A>G (p.Arg94=)
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs) rs1559677146
NM_000092.5(COL4A4):c.2841G>A (p.Arg947=)
NM_000092.5(COL4A4):c.2842G>A (p.Gly948Arg)
NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter) rs2150219679
NM_000092.5(COL4A4):c.2845C>T (p.Leu949=) rs2150219592
NM_000092.5(COL4A4):c.2846T>C (p.Leu949Pro)
NM_000092.5(COL4A4):c.2848A>C (p.Arg950=)
NM_000092.5(COL4A4):c.2856C>G (p.Ala952=)
NM_000092.5(COL4A4):c.2860+11T>A
NM_000092.5(COL4A4):c.2860+12A>G
NM_000092.5(COL4A4):c.2860+16C>G
NM_000092.5(COL4A4):c.2860+8A>C
NM_000092.5(COL4A4):c.2860G>A (p.Gly954Arg) rs2150219187
NM_000092.5(COL4A4):c.2861-10A>G
NM_000092.5(COL4A4):c.2861-12T>C
NM_000092.5(COL4A4):c.2861-16T>C
NM_000092.5(COL4A4):c.2861-17A>T
NM_000092.5(COL4A4):c.2861-4A>G
NM_000092.5(COL4A4):c.2868A>T (p.Ile956=)
NM_000092.5(COL4A4):c.2870G>A (p.Gly957Glu)
NM_000092.5(COL4A4):c.2871dup (p.Pro958fs)
NM_000092.5(COL4A4):c.288C>T (p.Asp96=)
NM_000092.5(COL4A4):c.289C>T (p.Arg97Cys)
NM_000092.5(COL4A4):c.2906C>A (p.Ser969Ter) rs35138315
NM_000092.5(COL4A4):c.2916A>G (p.Gly972=) rs1974301560
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=) rs762735176
NM_000092.5(COL4A4):c.2925G>C (p.Gly975=) rs559743197
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs)
NM_000092.5(COL4A4):c.2943A>C (p.Gly981=) rs2150194542
NM_000092.5(COL4A4):c.294C>T (p.Gly98=)
NM_000092.5(COL4A4):c.2956C>T (p.Pro986Ser) rs1576142052
NM_000092.5(COL4A4):c.2958A>C (p.Pro986=) rs2150194377
NM_000092.5(COL4A4):c.2961A>G (p.Gly987=)
NM_000092.5(COL4A4):c.2968+12dup
NM_000092.5(COL4A4):c.2968+13G>A
NM_000092.5(COL4A4):c.2968+15G>A
NM_000092.5(COL4A4):c.2968+7A>T
NM_000092.5(COL4A4):c.2969-10A>T rs1576130915
NM_000092.5(COL4A4):c.2969-12dup
NM_000092.5(COL4A4):c.2969-13C>T
NM_000092.5(COL4A4):c.2969-16C>T
NM_000092.5(COL4A4):c.2969-5A>G rs2150183184
NM_000092.5(COL4A4):c.2977G>A (p.Gly993Arg)
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.2980dup (p.Thr994fs)
NM_000092.5(COL4A4):c.2985C>G (p.Pro995=)
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp)
NM_000092.5(COL4A4):c.2988G>A (p.Gly996=)
NM_000092.5(COL4A4):c.3003A>G (p.Arg1001=) rs2150182826
NM_000092.5(COL4A4):c.3006A>G (p.Gly1002=) rs1381291502
NM_000092.5(COL4A4):c.3009G>A (p.Glu1003=)
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3019T>C (p.Tyr1007His)
NM_000092.5(COL4A4):c.301G>T (p.Gly101Ter)
NM_000092.5(COL4A4):c.3024A>G (p.Gly1008=)
NM_000092.5(COL4A4):c.3027A>G (p.Pro1009=) rs1263267944
NM_000092.5(COL4A4):c.3029C>T (p.Pro1010Leu)
NM_000092.5(COL4A4):c.3033A>G (p.Gly1011=) rs2150182461
NM_000092.5(COL4A4):c.3048A>G (p.Glu1016=)
NM_000092.5(COL4A4):c.304G>A (p.Ala102Thr)
NM_000092.5(COL4A4):c.3054T>C (p.Gly1018=)
NM_000092.5(COL4A4):c.3055G>A (p.Glu1019Lys)
NM_000092.5(COL4A4):c.3060A>G (p.Lys1020=) rs2150182248
NM_000092.5(COL4A4):c.3061G>C (p.Gly1021Arg)
NM_000092.5(COL4A4):c.3063T>A (p.Gly1021=) rs1336268980
NM_000092.5(COL4A4):c.3063T>C (p.Gly1021=) rs1336268980
NM_000092.5(COL4A4):c.3069A>G (p.Pro1023=)
NM_000092.5(COL4A4):c.3070G>T (p.Gly1024Trp) rs2150182132
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro)
NM_000092.5(COL4A4):c.3075T>C (p.Pro1025=)
NM_000092.5(COL4A4):c.3084C>G (p.Pro1028=)
NM_000092.5(COL4A4):c.3085C>T (p.Pro1029Ser)
NM_000092.5(COL4A4):c.3089G>C (p.Gly1030Ala)
NM_000092.5(COL4A4):c.3090C>A (p.Gly1030=) rs1341200951
NM_000092.5(COL4A4):c.3090C>T (p.Gly1030=)
NM_000092.5(COL4A4):c.30G>A (p.Arg10=)
NM_000092.5(COL4A4):c.3102A>T (p.Ser1034=)
NM_000092.5(COL4A4):c.3109C>T (p.Leu1037=)
NM_000092.5(COL4A4):c.3115G>A (p.Gly1039Arg)
NM_000092.5(COL4A4):c.3117G>T (p.Gly1039=) rs768161234
NM_000092.5(COL4A4):c.3132A>G (p.Pro1044=)
NM_000092.5(COL4A4):c.3135A>C (p.Gly1045=)
NM_000092.5(COL4A4):c.3145G>A (p.Asp1049Asn)
NM_000092.5(COL4A4):c.3150+14G>C
NM_000092.5(COL4A4):c.3150+20T>C
NM_000092.5(COL4A4):c.3150+8G>A rs2150181194
NM_000092.5(COL4A4):c.3150+9C>T
NM_000092.5(COL4A4):c.3151-10A>G rs2150173104
NM_000092.5(COL4A4):c.3151-12T>C
NM_000092.5(COL4A4):c.3151-14C>A
NM_000092.5(COL4A4):c.3151-20T>G
NM_000092.5(COL4A4):c.3151-4T>G
NM_000092.5(COL4A4):c.3151-5G>T
NM_000092.5(COL4A4):c.3151-6T>G
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala)
NM_000092.5(COL4A4):c.3152G>T (p.Gly1051Val)
NM_000092.5(COL4A4):c.3156G>A (p.Glu1052=)
NM_000092.5(COL4A4):c.3169G>A (p.Gly1057Ser)
NM_000092.5(COL4A4):c.3170G>T (p.Gly1057Val) rs2150172729
NM_000092.5(COL4A4):c.3171T>A (p.Gly1057=)
NM_000092.5(COL4A4):c.3174C>T (p.Pro1058=) rs2150172660
NM_000092.5(COL4A4):c.3177T>C (p.Pro1059=) rs2150172636
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg)
NM_000092.5(COL4A4):c.3195T>C (p.Asp1065=)
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3204A>G (p.Arg1068=)
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu) rs2150172344
NM_000092.5(COL4A4):c.3210T>A (p.Pro1070=)
NM_000092.5(COL4A4):c.3214+14A>T
NM_000092.5(COL4A4):c.3214+17C>G
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+2T>A
NM_000092.5(COL4A4):c.3215-10T>C
NM_000092.5(COL4A4):c.3215-11A>G
NM_000092.5(COL4A4):c.3215-12T>C
NM_000092.5(COL4A4):c.3215-12dup
NM_000092.5(COL4A4):c.3215-17C>G
NM_000092.5(COL4A4):c.3215-18G>T rs886038230
NM_000092.5(COL4A4):c.3215-20A>G
NM_000092.5(COL4A4):c.3215-7C>A
NM_000092.5(COL4A4):c.3215-7C>T
NM_000092.5(COL4A4):c.3215-8C>A rs2150149565
NM_000092.5(COL4A4):c.3216A>G (p.Gly1072=)
NM_000092.5(COL4A4):c.3225T>C (p.Gly1075=)
NM_000092.5(COL4A4):c.3228C>A (p.Asp1076Glu)
NM_000092.5(COL4A4):c.3234C>T (p.Ala1078=) rs1973137015
NM_000092.5(COL4A4):c.3263G>A (p.Gly1088Asp) rs2150149041
NM_000092.5(COL4A4):c.327+12C>G
NM_000092.5(COL4A4):c.327+14T>C
NM_000092.5(COL4A4):c.327+17G>A
NM_000092.5(COL4A4):c.327+17G>C
NM_000092.5(COL4A4):c.327+9C>G rs2061751496
NM_000092.5(COL4A4):c.3270A>C (p.Pro1090=) rs781023890
NM_000092.5(COL4A4):c.3270A>G (p.Pro1090=) rs781023890
NM_000092.5(COL4A4):c.3271G>C (p.Gly1091Arg) rs1973129665
NM_000092.5(COL4A4):c.3272G>A (p.Gly1091Asp)
NM_000092.5(COL4A4):c.328-12C>T
NM_000092.5(COL4A4):c.328-17A>G
NM_000092.5(COL4A4):c.328-17_328-13del
NM_000092.5(COL4A4):c.328-22_328-18del
NM_000092.5(COL4A4):c.328-7A>G
NM_000092.5(COL4A4):c.328-8G>A
NM_000092.5(COL4A4):c.3285T>C (p.Cys1095=) rs908532580
NM_000092.5(COL4A4):c.3285T>G (p.Cys1095Trp)
NM_000092.5(COL4A4):c.3289+10C>T
NM_000092.5(COL4A4):c.3289+15T>C
NM_000092.5(COL4A4):c.3289+1G>A
NM_000092.5(COL4A4):c.3289+9G>A rs1973126830
NM_000092.5(COL4A4):c.3290-10C>A
NM_000092.5(COL4A4):c.3290-10C>T rs1576043805
NM_000092.5(COL4A4):c.3290-11T>C
NM_000092.5(COL4A4):c.3290-13T>C
NM_000092.5(COL4A4):c.3290-14C>T rs1287740535
NM_000092.5(COL4A4):c.3290-16A>G
NM_000092.5(COL4A4):c.3290-5T>C rs762038061
NM_000092.5(COL4A4):c.3290-6_3290-4del
NM_000092.5(COL4A4):c.3304T>A (p.Ser1102Thr)
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3308G>C (p.Gly1103Ala)
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs) rs1971796422
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs)
NM_000092.5(COL4A4):c.3313C>T (p.Gln1105Ter)
NM_000092.5(COL4A4):c.3318C>T (p.Gly1106=)
NM_000092.5(COL4A4):c.3319_3358del (p.Leu1107fs) rs2150103127
NM_000092.5(COL4A4):c.3321_3339dup (p.Arg1114fs)
NM_000092.5(COL4A4):c.3327T>C (p.Gly1109=) rs1971794819
NM_000092.5(COL4A4):c.3328A>G (p.Ile1110Val)
NM_000092.5(COL4A4):c.3331C>A (p.Gln1111Lys)
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter)
NM_000092.5(COL4A4):c.3336G>A (p.Gly1112=) rs1971793627
NM_000092.5(COL4A4):c.333A>C (p.Pro111=)
NM_000092.5(COL4A4):c.3340A>C (p.Arg1114=)
NM_000092.5(COL4A4):c.3342A>G (p.Arg1114=) rs2150103409
NM_000092.5(COL4A4):c.3345A>T (p.Gly1115=) rs1260262276
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter) rs1971792460
NM_000092.5(COL4A4):c.3349C>T (p.Pro1117Ser)
NM_000092.5(COL4A4):c.3358C>T (p.Pro1120Ser)
NM_000092.5(COL4A4):c.3360A>G (p.Pro1120=)
NM_000092.5(COL4A4):c.3372C>A (p.Gly1124=)
NM_000092.5(COL4A4):c.3375C>A (p.Ser1125=)
NM_000092.5(COL4A4):c.3386C>G (p.Pro1129Arg)
NM_000092.5(COL4A4):c.3390G>A (p.Gly1130=) rs774821528
NM_000092.5(COL4A4):c.3397+17T>A
NM_000092.5(COL4A4):c.3397+18C>T
NM_000092.5(COL4A4):c.3397+19T>A
NM_000092.5(COL4A4):c.3397+1G>C rs1212090722
NM_000092.5(COL4A4):c.3397+8G>A
NM_000092.5(COL4A4):c.3397G>T (p.Gly1133Cys)
NM_000092.5(COL4A4):c.3398-11G>T
NM_000092.5(COL4A4):c.3398-17T>A
NM_000092.5(COL4A4):c.3398-18C>A
NM_000092.5(COL4A4):c.3398-1G>T
NM_000092.5(COL4A4):c.3398-5C>G rs1334751349
NM_000092.5(COL4A4):c.3398-6C>T
NM_000092.5(COL4A4):c.33C>T (p.Cys11=)
NM_000092.5(COL4A4):c.3408G>A (p.Gly1136=)
NM_000092.5(COL4A4):c.342T>A (p.Val114=)
NM_000092.5(COL4A4):c.3432A>G (p.Pro1144=) rs1343894106
NM_000092.5(COL4A4):c.3439del (p.Met1147fs) rs1559480432
NM_000092.5(COL4A4):c.3447C>T (p.Asp1149=) rs768108632
NM_000092.5(COL4A4):c.3450T>C (p.Pro1150=) rs751859861
NM_000092.5(COL4A4):c.345T>C (p.Pro115=) rs760425757
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp)
NM_000092.5(COL4A4):c.3465C>A (p.Leu1155=)
NM_000092.5(COL4A4):c.3465C>T (p.Leu1155=) rs765248268
NM_000092.5(COL4A4):c.3483A>C (p.Ile1161=)
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp) rs1559480099
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.3489T>C (p.Gly1163=)
NM_000092.5(COL4A4):c.3492T>A (p.Pro1164=) rs771880741
NM_000092.5(COL4A4):c.3494C>T (p.Pro1165Leu)
NM_000092.5(COL4A4):c.3505+10A>T
NM_000092.5(COL4A4):c.3505+19C>T
NM_000092.5(COL4A4):c.3505+7C>A rs1484652469
NM_000092.5(COL4A4):c.3505+8A>G rs2150094257
NM_000092.5(COL4A4):c.3506-12G>C
NM_000092.5(COL4A4):c.3506-13_3528del rs2149993330
NM_000092.5(COL4A4):c.3506-17C>A
NM_000092.5(COL4A4):c.3506-19G>C
NM_000092.5(COL4A4):c.3506-20A>G
NM_000092.5(COL4A4):c.3506-9G>A rs2149993737
NM_000092.5(COL4A4):c.3513C>G (p.Ser1171=) rs762812157
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter) rs1364773011
NM_000092.5(COL4A4):c.3516A>G (p.Gly1172=)
NM_000092.5(COL4A4):c.3522T>C (p.Pro1174=) rs775477147
NM_000092.5(COL4A4):c.3526C>T (p.Leu1176=) rs1575931934
NM_000092.5(COL4A4):c.3537G>A (p.Leu1179=)
NM_000092.5(COL4A4):c.3546G>C (p.Leu1182Phe)
NM_000092.5(COL4A4):c.354A>C (p.Pro118=) rs1432438341
NM_000092.5(COL4A4):c.354A>G (p.Pro118=) rs1432438341
NM_000092.5(COL4A4):c.3553C>T (p.Gln1185Ter)
NM_000092.5(COL4A4):c.3564T>C (p.Thr1188=)
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=) rs1575931307
NM_000092.5(COL4A4):c.3577+11A>C
NM_000092.5(COL4A4):c.3577+14C>G rs370328730
NM_000092.5(COL4A4):c.3577+18T>C
NM_000092.5(COL4A4):c.3577+19C>T rs2149992474
NM_000092.5(COL4A4):c.3577+20G>A
NM_000092.5(COL4A4):c.3577+7A>G
NM_000092.5(COL4A4):c.3577+8C>T rs2149992583
NM_000092.5(COL4A4):c.3577+9C>G
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.3578-10C>T
NM_000092.5(COL4A4):c.3578-18T>C
NM_000092.5(COL4A4):c.3578-20A>C
NM_000092.5(COL4A4):c.3578-2A>G
NM_000092.5(COL4A4):c.3578-6A>G
NM_000092.5(COL4A4):c.3603T>C (p.Gly1201=)
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn)
NM_000092.5(COL4A4):c.3624A>G (p.Leu1208=)
NM_000092.5(COL4A4):c.3630G>A (p.Gly1210=) rs267599227
NM_000092.5(COL4A4):c.3630G>T (p.Gly1210=)
NM_000092.5(COL4A4):c.3634A>G (p.Arg1212Gly)
NM_000092.5(COL4A4):c.3638G>A (p.Gly1213Glu)
NM_000092.5(COL4A4):c.3639A>C (p.Gly1213=)
NM_000092.5(COL4A4):c.3643C>T (p.Pro1215Ser)
NM_000092.5(COL4A4):c.3645T>A (p.Pro1215=)
NM_000092.5(COL4A4):c.3648G>A (p.Gly1216=)
NM_000092.5(COL4A4):c.3648del (p.Ser1217fs)
NM_000092.5(COL4A4):c.3660C>T (p.Ile1220=) rs1336148521
NM_000092.5(COL4A4):c.3667C>T (p.Pro1223Ser) rs771575941
NM_000092.5(COL4A4):c.3669A>G (p.Pro1223=) rs1303927433
NM_000092.5(COL4A4):c.3675T>G (p.Pro1225=) rs2149980650
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
NM_000092.5(COL4A4):c.3678T>G (p.Arg1226=) rs1968570536
NM_000092.5(COL4A4):c.3679G>A (p.Gly1227Arg) rs1968570122
NM_000092.5(COL4A4):c.3680dup (p.Lys1229fs) rs2149980503
NM_000092.5(COL4A4):c.3681A>C (p.Gly1227=)
NM_000092.5(COL4A4):c.3681A>G (p.Gly1227=)
NM_000092.5(COL4A4):c.3687A>G (p.Lys1229=)
NM_000092.5(COL4A4):c.3687del (p.Gly1230fs)
NM_000092.5(COL4A4):c.3687dup (p.Gly1230fs)
NM_000092.5(COL4A4):c.3689G>A (p.Gly1230Asp)
NM_000092.5(COL4A4):c.3695del (p.Pro1232fs)
NM_000092.5(COL4A4):c.3702C>T (p.Pro1234=) rs2149980026
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3704dup (p.Gly1236fs)
NM_000092.5(COL4A4):c.3706+10A>C
NM_000092.5(COL4A4):c.3706+10A>G rs374988200
NM_000092.5(COL4A4):c.3706+17T>G
NM_000092.5(COL4A4):c.3706+20G>T
NM_000092.5(COL4A4):c.3706+8G>C
NM_000092.5(COL4A4):c.3707-10C>G
NM_000092.5(COL4A4):c.3707-12G>A
NM_000092.5(COL4A4):c.3707-14A>T
NM_000092.5(COL4A4):c.3707-16A>G
NM_000092.5(COL4A4):c.3707-19T>C
NM_000092.5(COL4A4):c.3707-19T>G
NM_000092.5(COL4A4):c.3707-6T>C
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala)
NM_000092.5(COL4A4):c.372+14A>C
NM_000092.5(COL4A4):c.372+18T>C
NM_000092.5(COL4A4):c.3729T>C (p.Pro1243=) rs2149978723
NM_000092.5(COL4A4):c.373-2A>G rs2125001412
NM_000092.5(COL4A4):c.373-4G>T rs2061620013
NM_000092.5(COL4A4):c.3754A>G (p.Lys1252Glu)
NM_000092.5(COL4A4):c.3770C>G (p.Pro1257Arg)
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.5(COL4A4):c.3773G>A (p.Gly1258Asp) rs1968521797
NM_000092.5(COL4A4):c.3777A>C (p.Pro1259=) rs2149977933
NM_000092.5(COL4A4):c.3781G>A (p.Gly1261Arg)
NM_000092.5(COL4A4):c.378C>T (p.His126=)
NM_000092.5(COL4A4):c.3796C>T (p.Pro1266Ser) rs267599226
NM_000092.5(COL4A4):c.3807T>C (p.Asp1269=)
NM_000092.5(COL4A4):c.380C>G (p.Pro127Arg)
NM_000092.5(COL4A4):c.3817+13C>T
NM_000092.5(COL4A4):c.3817+14A>T rs1211980109
NM_000092.5(COL4A4):c.3817+15T>A
NM_000092.5(COL4A4):c.3817+16G>A
NM_000092.5(COL4A4):c.3817+17A>C
NM_000092.5(COL4A4):c.3817+8del
NM_000092.5(COL4A4):c.3817+9G>A
NM_000092.5(COL4A4):c.3818-11T>C
NM_000092.5(COL4A4):c.3818-12_3818-10del rs2149958389
NM_000092.5(COL4A4):c.3818-15C>A
NM_000092.5(COL4A4):c.3818-18T>C
NM_000092.5(COL4A4):c.3818-19G>T
NM_000092.5(COL4A4):c.3818-1G>A
NM_000092.5(COL4A4):c.3818-5G>T
NM_000092.5(COL4A4):c.3818-8G>A
NM_000092.5(COL4A4):c.381A>G (p.Pro127=) rs2125001104
NM_000092.5(COL4A4):c.3825T>A (p.Pro1275=) rs926864001
NM_000092.5(COL4A4):c.3825T>C (p.Pro1275=) rs926864001
NM_000092.5(COL4A4):c.3825T>G (p.Pro1275=) rs926864001
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp) rs777134408
NM_000092.5(COL4A4):c.3846G>A (p.Gly1282=)
NM_000092.5(COL4A4):c.3848G>T (p.Ser1283Ile)
NM_000092.5(COL4A4):c.384G>A (p.Gly128=)
NM_000092.5(COL4A4):c.3861G>C (p.Leu1287=) rs951695555
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs) rs1559450594
NM_000092.5(COL4A4):c.3867G>C (p.Gly1289=) rs2149957075
NM_000092.5(COL4A4):c.3870G>A (p.Glu1290=)
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.3878_3881dup (p.Cys1294Ter) rs2149956892
NM_000092.5(COL4A4):c.3879C>T (p.Asp1293=)
NM_000092.5(COL4A4):c.3882T>C (p.Cys1294=) rs2149956863
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3890C>G (p.Pro1297Arg)
NM_000092.5(COL4A4):c.3891A>G (p.Pro1297=)
NM_000092.5(COL4A4):c.3891A>T (p.Pro1297=) rs914796413
NM_000092.5(COL4A4):c.3897A>G (p.Pro1299=)
NM_000092.5(COL4A4):c.3903T>C (p.Gly1301=) rs1463148305
NM_000092.5(COL4A4):c.3912C>G (p.Gly1304=)
NM_000092.5(COL4A4):c.3912C>T (p.Gly1304=)
NM_000092.5(COL4A4):c.3923del (p.Pro1308fs) rs762504207
NM_000092.5(COL4A4):c.3927A>G (p.Pro1309=)
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3933C>T (p.Tyr1311=)
NM_000092.5(COL4A4):c.393A>G (p.Gly131=)
NM_000092.5(COL4A4):c.3955G>T (p.Gly1319Ter)
NM_000092.5(COL4A4):c.3957A>T (p.Gly1319=)
NM_000092.5(COL4A4):c.3961del (p.Asp1321fs)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3973+10T>C
NM_000092.5(COL4A4):c.3973+12G>A
NM_000092.5(COL4A4):c.3973+16C>T
NM_000092.5(COL4A4):c.3973+17G>A
NM_000092.5(COL4A4):c.3973+17G>C
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.3973+7A>C
NM_000092.5(COL4A4):c.3973+8_3973+11del
NM_000092.5(COL4A4):c.3973+9G>A
NM_000092.5(COL4A4):c.3974-12dup rs200823182
NM_000092.5(COL4A4):c.3974-13G>A
NM_000092.5(COL4A4):c.3974-19T>C
NM_000092.5(COL4A4):c.3974-4T>A
NM_000092.5(COL4A4):c.3974-4del rs200823182
NM_000092.5(COL4A4):c.3974-8T>C rs2149926026
NM_000092.5(COL4A4):c.3974-9T>C
NM_000092.5(COL4A4):c.3974G>A (p.Gly1325Glu)
NM_000092.5(COL4A4):c.3975A>G (p.Gly1325=) rs2149925816
NM_000092.5(COL4A4):c.3987C>T (p.Phe1329=) rs1202711461
NM_000092.5(COL4A4):c.3993A>G (p.Gly1331=)
NM_000092.5(COL4A4):c.3996G>T (p.Pro1332=)
NM_000092.5(COL4A4):c.3997C>T (p.Gln1333Ter) rs2149925286
NM_000092.5(COL4A4):c.39C>T (p.Phe13=) rs2125388306
NM_000092.5(COL4A4):c.4005A>C (p.Pro1335=) rs2149925175
NM_000092.5(COL4A4):c.4011A>G (p.Gly1337=)
NM_000092.5(COL4A4):c.4020G>A (p.Gly1340=)
NM_000092.5(COL4A4):c.4023A>G (p.Pro1341=)
NM_000092.5(COL4A4):c.4029A>T (p.Gly1343=)
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser)
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val)
NM_000092.5(COL4A4):c.4051C>G (p.Pro1351Ala)
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4074T>G (p.Gly1358=)
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs)
NM_000092.5(COL4A4):c.4081+10C>T rs1228230729
NM_000092.5(COL4A4):c.4081+14C>A
NM_000092.5(COL4A4):c.4081+18A>G
NM_000092.5(COL4A4):c.4082-16C>T
NM_000092.5(COL4A4):c.4082-18G>A
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.4082-20T>C
NM_000092.5(COL4A4):c.4082-2A>G
NM_000092.5(COL4A4):c.4082-6C>T
NM_000092.5(COL4A4):c.4082-7C>T
NM_000092.5(COL4A4):c.4090+11C>G
NM_000092.5(COL4A4):c.4090+2T>G
NM_000092.5(COL4A4):c.4091-12T>C
NM_000092.5(COL4A4):c.4091-17G>A
NM_000092.5(COL4A4):c.4091-25_4091-17del
NM_000092.5(COL4A4):c.4091-8_4092del
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter) rs2149854376
NM_000092.5(COL4A4):c.4096C>T (p.Pro1366Ser)
NM_000092.5(COL4A4):c.4097C>T (p.Pro1366Leu)
NM_000092.5(COL4A4):c.4097dup (p.Pro1368fs) rs2149854259
NM_000092.5(COL4A4):c.409G>A (p.Gly137Ser)
NM_000092.5(COL4A4):c.4101G>A (p.Gly1367=)
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp)
NM_000092.5(COL4A4):c.4142T>C (p.Leu1381Pro)
NM_000092.5(COL4A4):c.4150del (p.Ala1384fs)
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs)
NM_000092.5(COL4A4):c.4152G>C (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4152G>T (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4153C>T (p.Pro1385Ser) rs2149853379
NM_000092.5(COL4A4):c.4158C>A (p.Gly1386=)
NM_000092.5(COL4A4):c.4158C>T (p.Gly1386=)
NM_000092.5(COL4A4):c.4163G>A (p.Arg1388Lys)
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg)
NM_000092.5(COL4A4):c.416G>A (p.Ser139Asn)
NM_000092.5(COL4A4):c.4174G>T (p.Gly1392Ter)
NM_000092.5(COL4A4):c.4175del (p.Gly1392fs)
NM_000092.5(COL4A4):c.4179C>T (p.Ala1393=)
NM_000092.5(COL4A4):c.4187del (p.Leu1396fs) rs2149852923
NM_000092.5(COL4A4):c.4191T>A (p.Pro1397=)
NM_000092.5(COL4A4):c.4199G>A (p.Arg1400Lys)
NM_000092.5(COL4A4):c.4200dup (p.Gly1401fs) rs2149852637
NM_000092.5(COL4A4):c.4205C>G (p.Pro1402Arg)
NM_000092.5(COL4A4):c.4206_4207delinsTC (p.Ser1403Pro) rs2149852514
NM_000092.5(COL4A4):c.420C>A (p.Gly140=)
NM_000092.5(COL4A4):c.4216+10G>A rs753712026
NM_000092.5(COL4A4):c.4216+10G>C
NM_000092.5(COL4A4):c.4216+10G>T rs753712026
NM_000092.5(COL4A4):c.4216+12A>G
NM_000092.5(COL4A4):c.4216+15C>T
NM_000092.5(COL4A4):c.4216+16T>C
NM_000092.5(COL4A4):c.4216+1del rs1064796549
NM_000092.5(COL4A4):c.4216+4T>C
NM_000092.5(COL4A4):c.4216+7G>A
NM_000092.5(COL4A4):c.4216+8C>A
NM_000092.5(COL4A4):c.4216+8C>T rs375786898
NM_000092.5(COL4A4):c.4217-16A>G
NM_000092.5(COL4A4):c.4217-19A>G rs1249595660
NM_000092.5(COL4A4):c.4217-1G>A rs1161487989
NM_000092.5(COL4A4):c.4217-6G>A
NM_000092.5(COL4A4):c.4217-7T>C rs1275450735
NM_000092.5(COL4A4):c.4221C>T (p.Cys1407=)
NM_000092.5(COL4A4):c.4226del (p.Gly1409fs) rs1963907888
NM_000092.5(COL4A4):c.4236G>A (p.Gly1412=)
NM_000092.5(COL4A4):c.4236G>T (p.Gly1412=)
NM_000092.5(COL4A4):c.4238T>G (p.Leu1413Arg)
NM_000092.5(COL4A4):c.4242T>C (p.Asp1414=) rs374946510
NM_000092.5(COL4A4):c.4260T>C (p.Asp1420=)
NM_000092.5(COL4A4):c.4263C>A (p.Gly1421=)
NM_000092.5(COL4A4):c.4266C>T (p.Val1422=) rs2149764506
NM_000092.5(COL4A4):c.4269T>C (p.Pro1423=) rs2149764420
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=) rs2149764265
NM_000092.5(COL4A4):c.4281G>C (p.Gly1427=)
NM_000092.5(COL4A4):c.4287C>G (p.Pro1429=)
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4291C>A (p.Arg1431Ser)
NM_000092.5(COL4A4):c.4292G>A (p.Arg1431His)
NM_000092.5(COL4A4):c.429C>T (p.Gly143=) rs2125000237
NM_000092.5(COL4A4):c.4304_4305del (p.Thr1435fs) rs2149763989
NM_000092.5(COL4A4):c.4317C>T (p.Gly1439=) rs2149763802
NM_000092.5(COL4A4):c.4326A>C (p.Gly1442=)
NM_000092.5(COL4A4):c.4327G>C (p.Gly1443Arg) rs779769090
NM_000092.5(COL4A4):c.4330C>A (p.Pro1444Thr)
NM_000092.5(COL4A4):c.4333+10C>T rs2149763427
NM_000092.5(COL4A4):c.4333+11A>G
NM_000092.5(COL4A4):c.4333+16C>T
NM_000092.5(COL4A4):c.4333+18C>T
NM_000092.5(COL4A4):c.4333+19_4333+21del
NM_000092.5(COL4A4):c.4333+1G>T rs1963883799
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4333+6G>T
NM_000092.5(COL4A4):c.4333+9T>G
NM_000092.5(COL4A4):c.4334-13T>C rs2149745878
NM_000092.5(COL4A4):c.4334-16T>C
NM_000092.5(COL4A4):c.4334-20T>G
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4334-3del rs780415519
NM_000092.5(COL4A4):c.4334-6C>T rs2149745790
NM_000092.5(COL4A4):c.4334-9T>A
NM_000092.5(COL4A4):c.4341T>G (p.Pro1447=) rs2149745580
NM_000092.5(COL4A4):c.4347C>G (p.Pro1449=)
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn) rs72969704
NM_000092.5(COL4A4):c.4350T>C (p.Ile1450=) rs781031084
NM_000092.5(COL4A4):c.4358C>T (p.Pro1453Leu) rs2149745307
NM_000092.5(COL4A4):c.4371G>A (p.Gly1457=)
NM_000092.5(COL4A4):c.4371G>C (p.Gly1457=) rs1575715890
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val)
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter)
NM_000092.5(COL4A4):c.4396T>C (p.Phe1466Leu)
NM_000092.5(COL4A4):c.4398C>T (p.Phe1466=)
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs)
NM_000092.5(COL4A4):c.4425C>T (p.Asp1475=) rs2149744466
NM_000092.5(COL4A4):c.4431G>A (p.Glu1477=) rs2149744390
NM_000092.5(COL4A4):c.443C>G (p.Pro148Arg)
NM_000092.5(COL4A4):c.443C>T (p.Pro148Leu)
NM_000092.5(COL4A4):c.4443C>G (p.Pro1481=) rs759470234
NM_000092.5(COL4A4):c.4444del (p.Leu1482fs) rs764752384
NM_000092.5(COL4A4):c.4456A>C (p.Arg1486=)
NM_000092.5(COL4A4):c.4456del (p.Arg1486fs) rs2149744042
NM_000092.5(COL4A4):c.4458G>A (p.Arg1486=)
NM_000092.5(COL4A4):c.445G>A (p.Gly149Arg)
NM_000092.5(COL4A4):c.4467T>G (p.Thr1489=) rs1963393483
NM_000092.5(COL4A4):c.446G>A (p.Gly149Glu)
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4470G>A (p.Gly1490=) rs1308858968
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4473_4474dup (p.Ser1492fs) rs2149743813
NM_000092.5(COL4A4):c.4480T>C (p.Leu1494=) rs535070702
NM_000092.5(COL4A4):c.4482A>G (p.Leu1494=) rs2149743763
NM_000092.5(COL4A4):c.4485C>T (p.Tyr1495=) rs1553613757
NM_000092.5(COL4A4):c.4510A>G (p.Asn1504Asp)
NM_000092.5(COL4A4):c.4512T>C (p.Asn1504=) rs1963377875
NM_000092.5(COL4A4):c.4518C>T (p.Asp1506=) rs2149743323
NM_000092.5(COL4A4):c.4519C>T (p.Leu1507Phe)
NM_000092.5(COL4A4):c.4522+12G>A
NM_000092.5(COL4A4):c.4522+14A>C
NM_000092.5(COL4A4):c.4522+16C>T
NM_000092.5(COL4A4):c.4522+1G>T rs2149743261
NM_000092.5(COL4A4):c.4522+20del
NM_000092.5(COL4A4):c.4522+9A>G
NM_000092.5(COL4A4):c.4523-10C>A
NM_000092.5(COL4A4):c.4523-17C>G
NM_000092.5(COL4A4):c.4523-4C>T rs760600045
NM_000092.5(COL4A4):c.4523-8T>G rs13419076
NM_000092.5(COL4A4):c.4524T>C (p.Gly1508=) rs1962656589
NM_000092.5(COL4A4):c.4533G>T (p.Gly1511=)
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4539C>T (p.Cys1513=) rs943603958
NM_000092.5(COL4A4):c.4544C>T (p.Pro1515Leu)
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs) rs2149722718
NM_000092.5(COL4A4):c.4550T>G (p.Phe1517Cys)
NM_000092.5(COL4A4):c.4555A>C (p.Thr1519Pro)
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)
NM_000092.5(COL4A4):c.4560G>A (p.Leu1520=)
NM_000092.5(COL4A4):c.4563C>T (p.Pro1521=) rs2149722583
NM_000092.5(COL4A4):c.4572C>T (p.Tyr1524=)
NM_000092.5(COL4A4):c.4584C>T (p.His1528=)
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4603C>T (p.Gln1535Ter)
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) rs1962628992
NM_000092.5(COL4A4):c.4607G>T (p.Arg1536Ile)
NM_000092.5(COL4A4):c.4608A>G (p.Arg1536=)
NM_000092.5(COL4A4):c.4614C>G (p.Asp1538Glu)
NM_000092.5(COL4A4):c.4620C>T (p.Ser1540=)
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs) rs1559396675
NM_000092.5(COL4A4):c.4636G>A (p.Ala1546Thr)
NM_000092.5(COL4A4):c.4642C>T (p.Pro1548Ser)
NM_000092.5(COL4A4):c.4645del (p.Leu1549fs)
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4650C>A (p.Pro1550=)
NM_000092.5(COL4A4):c.4671G>A (p.Glu1557=)
NM_000092.5(COL4A4):c.4674G>C (p.Ala1558=)
NM_000092.5(COL4A4):c.4679G>A (p.Arg1560His)
NM_000092.5(COL4A4):c.4680C>T (p.Arg1560=)
NM_000092.5(COL4A4):c.4683_4684del (p.Tyr1562fs)
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4685_4686del (p.Tyr1562fs) rs1481294022
NM_000092.5(COL4A4):c.4689C>G (p.Val1563=) rs1266425452
NM_000092.5(COL4A4):c.4689C>T (p.Val1563=)
NM_000092.5(COL4A4):c.468T>C (p.Ala156=) rs2124999375
NM_000092.5(COL4A4):c.4701G>T (p.Ala1567=) rs375189390
NM_000092.5(COL4A4):c.4707C>T (p.Cys1569=)
NM_000092.5(COL4A4):c.4713C>G (p.Ala1571=) rs2149720794
NM_000092.5(COL4A4):c.4713C>T (p.Ala1571=) rs2149720794
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.4719C>A (p.Ala1573=)
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) rs2149720690
NM_000092.5(COL4A4):c.4724C>T (p.Ala1575Val)
NM_000092.5(COL4A4):c.4725G>C (p.Ala1575=)
NM_000092.5(COL4A4):c.4731G>T (p.Ala1577=)
NM_000092.5(COL4A4):c.4734G>A (p.Val1578=) rs2149720454
NM_000092.5(COL4A4):c.4734G>C (p.Val1578=)
NM_000092.5(COL4A4):c.4737C>T (p.His1579=)
NM_000092.5(COL4A4):c.4747C>T (p.Gln1583Ter)
NM_000092.5(COL4A4):c.4749G>A (p.Gln1583=)
NM_000092.5(COL4A4):c.4752C>T (p.Ser1584=)
NM_000092.5(COL4A4):c.4755C>A (p.Ile1585=) rs971543054
NM_000092.5(COL4A4):c.4755C>T (p.Ile1585=) rs971543054
NM_000092.5(COL4A4):c.4758C>A (p.Pro1586=) rs1024093641
NM_000092.5(COL4A4):c.4758C>G (p.Pro1586=) rs1024093641
NM_000092.5(COL4A4):c.4758C>T (p.Pro1586=) rs1024093641
NM_000092.5(COL4A4):c.4760C>A (p.Pro1587Gln)
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs) rs1206142672
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg)
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr)
NM_000092.5(COL4A4):c.4764T>G (p.Cys1588Trp)
NM_000092.5(COL4A4):c.4776G>A (p.Trp1592Ter)
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys)
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg) rs200799557
NM_000092.5(COL4A4):c.4784T>C (p.Leu1595Pro)
NM_000092.5(COL4A4):c.4800A>T (p.Ser1600=) rs2149719648
NM_000092.5(COL4A4):c.4809+14C>T
NM_000092.5(COL4A4):c.4809+20A>G
NM_000092.5(COL4A4):c.4809+6T>A rs1469771734
NM_000092.5(COL4A4):c.4809+7dup rs759784585
NM_000092.5(COL4A4):c.4810-12T>C
NM_000092.5(COL4A4):c.4810-16_4810-14del
NM_000092.5(COL4A4):c.4810-18C>T
NM_000092.5(COL4A4):c.4810-4G>A rs1962439099
NM_000092.5(COL4A4):c.4810-7T>C
NM_000092.5(COL4A4):c.4810-8C>G
NM_000092.5(COL4A4):c.4821T>C (p.Ala1607=)
NM_000092.5(COL4A4):c.4824G>T (p.Gly1608=)
NM_000092.5(COL4A4):c.4827C>T (p.Asp1609=) rs2149715482
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.4836A>G (p.Gly1612=) rs2149715418
NM_000092.5(COL4A4):c.483C>A (p.Gly161=)
NM_000092.5(COL4A4):c.4840C>A (p.Gln1614Lys)
NM_000092.5(COL4A4):c.4845C>G (p.Ala1615=) rs763223166
NM_000092.5(COL4A4):c.4845C>T (p.Ala1615=) rs763223166
NM_000092.5(COL4A4):c.4849_4850del (p.Met1617fs) rs2149715284
NM_000092.5(COL4A4):c.4851_4854dup (p.Pro1619fs)
NM_000092.5(COL4A4):c.4860C>A (p.Gly1620=)
NM_000092.5(COL4A4):c.4860C>G (p.Gly1620=) rs916895963
NM_000092.5(COL4A4):c.4869G>C (p.Leu1623=)
NM_000092.5(COL4A4):c.486C>T (p.Pro162=)
NM_000092.5(COL4A4):c.487C>T (p.Leu163=)
NM_000092.5(COL4A4):c.489+10C>T rs2124998668
NM_000092.5(COL4A4):c.489+11C>G
NM_000092.5(COL4A4):c.489+11C>T
NM_000092.5(COL4A4):c.489+15G>A
NM_000092.5(COL4A4):c.489+7T>C
NM_000092.5(COL4A4):c.4890A>C (p.Pro1630=)
NM_000092.5(COL4A4):c.4899A>G (p.Glu1633=)
NM_000092.5(COL4A4):c.489A>G (p.Leu163=) rs1177525984
NM_000092.5(COL4A4):c.48C>T (p.Thr16=) rs778093454
NM_000092.5(COL4A4):c.490-16C>T
NM_000092.5(COL4A4):c.490-17A>G
NM_000092.5(COL4A4):c.490-19A>T rs2124926402
NM_000092.5(COL4A4):c.490-1G>C
NM_000092.5(COL4A4):c.490-1G>T
NM_000092.5(COL4A4):c.490-20C>T
NM_000092.5(COL4A4):c.490-5T>G
NM_000092.5(COL4A4):c.4900T>A (p.Cys1634Ser)
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg)
NM_000092.5(COL4A4):c.4901G>C (p.Cys1634Ser)
NM_000092.5(COL4A4):c.4909C>T (p.Arg1637Trp)
NM_000092.5(COL4A4):c.4914G>A (p.Gln1638=)
NM_000092.5(COL4A4):c.4916G>A (p.Gly1639Glu)
NM_000092.5(COL4A4):c.4920T>C (p.Thr1640=) rs2149714482
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.5(COL4A4):c.492C>T (p.Gly164=) rs2124926064
NM_000092.5(COL4A4):c.4932_4933insT (p.Ala1645fs)
NM_000092.5(COL4A4):c.4937A>G (p.Asn1646Ser)
NM_000092.5(COL4A4):c.4941G>A (p.Lys1647=)
NM_000092.5(COL4A4):c.4943A>G (p.Tyr1648Cys)
NM_000092.5(COL4A4):c.4944T>C (p.Tyr1648=)
NM_000092.5(COL4A4):c.494A>C (p.His165Pro) rs1395435419
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.4962G>C (p.Thr1654=)
NM_000092.5(COL4A4):c.4962_4969dup (p.Ala1657delinsGlyTer) rs2149713829
NM_000092.5(COL4A4):c.4965G>A (p.Val1655=) rs2149713851
NM_000092.5(COL4A4):c.4975_4976del (p.Leu1659fs)
NM_000092.5(COL4A4):c.498T>C (p.Pro166=) rs775512192
NM_000092.5(COL4A4):c.4995A>T (p.Pro1665=) rs1962378894
NM_000092.5(COL4A4):c.5004C>T (p.Asp1668=) rs2149713558
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer) rs1308677161
NM_000092.5(COL4A4):c.5018del (p.Ser1673fs)
NM_000092.5(COL4A4):c.501G>A (p.Gly167=)
NM_000092.5(COL4A4):c.5024_5046del (p.Ala1675fs) rs2149713021
NM_000092.5(COL4A4):c.5025C>A (p.Ala1675=) rs765711277
NM_000092.5(COL4A4):c.5028A>G (p.Gln1676=) rs1386161762
NM_000092.5(COL4A4):c.5031_5032dup (p.Gln1678fs) rs2149713200
NM_000092.5(COL4A4):c.5043C>T (p.Ser1681=) rs2149713107
NM_000092.5(COL4A4):c.5044del (p.Arg1682fs) rs2149713086
NM_000092.5(COL4A4):c.5059G>A (p.Val1687Met)
NM_000092.5(COL4A4):c.5064G>A (p.Lys1688=) rs768552485
NM_000092.5(COL4A4):c.5070C>T (p.Ser1690=) rs762885668
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg)
NM_000092.5(COL4A4):c.510A>G (p.Gly170=) rs2124925592
NM_000092.5(COL4A4):c.511G>T (p.Glu171Ter)
NM_000092.5(COL4A4):c.517G>A (p.Gly173Arg)
NM_000092.5(COL4A4):c.51G>A (p.Lys17=)
NM_000092.5(COL4A4):c.522T>C (p.Asn174=) rs2124925418
NM_000092.5(COL4A4):c.525A>G (p.Ser175=) rs1576617451
NM_000092.5(COL4A4):c.528G>C (p.Val176=) rs2124925201
NM_000092.5(COL4A4):c.54C>T (p.Ser18=)
NM_000092.5(COL4A4):c.552T>C (p.Gly184=) rs1553692550
NM_000092.5(COL4A4):c.558+11T>C
NM_000092.5(COL4A4):c.558+12G>A
NM_000092.5(COL4A4):c.558+15C>T
NM_000092.5(COL4A4):c.558+17T>C
NM_000092.5(COL4A4):c.558+5G>A
NM_000092.5(COL4A4):c.558+9T>C
NM_000092.5(COL4A4):c.558+9_558+11del
NM_000092.5(COL4A4):c.559-19T>G
NM_000092.5(COL4A4):c.559-4G>T
NM_000092.5(COL4A4):c.559-6T>C rs2124853617
NM_000092.5(COL4A4):c.559G>A (p.Gly187Arg)
NM_000092.5(COL4A4):c.564C>T (p.Asp188=)
NM_000092.5(COL4A4):c.565A>C (p.Arg189=)
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser) rs1039244540
NM_000092.5(COL4A4):c.594+10C>T rs2124851875
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.594+7C>T rs2124851957
NM_000092.5(COL4A4):c.595-10T>C
NM_000092.5(COL4A4):c.595-18G>C
NM_000092.5(COL4A4):c.595-20C>T
NM_000092.5(COL4A4):c.595-6G>A rs2150879224
NM_000092.5(COL4A4):c.595-6del
NM_000092.5(COL4A4):c.595-9C>T rs2150879342
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000092.5(COL4A4):c.596G>C (p.Gly199Ala)
NM_000092.5(COL4A4):c.597A>G (p.Gly199=)
NM_000092.5(COL4A4):c.600T>A (p.Ser200=)
NM_000092.5(COL4A4):c.600T>C (p.Ser200=)
NM_000092.5(COL4A4):c.600T>G (p.Ser200=) rs549182013
NM_000092.5(COL4A4):c.603G>A (p.Trp201Ter) rs2061041235
NM_000092.5(COL4A4):c.609A>C (p.Ala203=) rs1576576318
NM_000092.5(COL4A4):c.609A>G (p.Ala203=) rs1576576318
NM_000092.5(COL4A4):c.60C>T (p.Ala20=) rs2125387939
NM_000092.5(COL4A4):c.617C>T (p.Pro206Leu)
NM_000092.5(COL4A4):c.619G>A (p.Ala207Thr)
NM_000092.5(COL4A4):c.624T>A (p.Gly208=) rs775248956
NM_000092.5(COL4A4):c.635A>T (p.Tyr212Phe)
NM_000092.5(COL4A4):c.639T>C (p.Pro213=)
NM_000092.5(COL4A4):c.645G>A (p.Glu215=) rs2061038127
NM_000092.5(COL4A4):c.645G>C (p.Glu215Asp)
NM_000092.5(COL4A4):c.657+15G>A
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.657+20T>C
NM_000092.5(COL4A4):c.657+9A>C
NM_000092.5(COL4A4):c.658-10C>T rs2150873393
NM_000092.5(COL4A4):c.658-15T>C
NM_000092.5(COL4A4):c.658-15dup rs747697337
NM_000092.5(COL4A4):c.658-2A>G rs2061011908
NM_000092.5(COL4A4):c.658-4T>G
NM_000092.5(COL4A4):c.658-7G>A rs746408938
NM_000092.5(COL4A4):c.658-9T>A
NM_000092.5(COL4A4):c.663T>C (p.Pro221=)
NM_000092.5(COL4A4):c.663del (p.Pro222fs)
NM_000092.5(COL4A4):c.666G>T (p.Pro222=) rs111945121
NM_000092.5(COL4A4):c.666_667insA (p.Gly223fs)
NM_000092.5(COL4A4):c.669C>G (p.Gly223=)
NM_000092.5(COL4A4):c.669C>T (p.Gly223=)
NM_000092.5(COL4A4):c.674C>G (p.Pro225Arg)
NM_000092.5(COL4A4):c.678G>A (p.Gly226=) rs2150872774
NM_000092.5(COL4A4):c.679C>T (p.Arg227Cys)
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.680G>C (p.Arg227Pro)
NM_000092.5(COL4A4):c.681T>C (p.Arg227=) rs1180066328
NM_000092.5(COL4A4):c.683C>A (p.Pro228Gln)
NM_000092.5(COL4A4):c.684A>G (p.Pro228=) rs2150872532
NM_000092.5(COL4A4):c.693+13G>A
NM_000092.5(COL4A4):c.693+16C>A
NM_000092.5(COL4A4):c.693+2T>C
NM_000092.5(COL4A4):c.694-12T>C
NM_000092.5(COL4A4):c.694-13A>G
NM_000092.5(COL4A4):c.694-2A>T
NM_000092.5(COL4A4):c.694-6T>C rs2150870159
NM_000092.5(COL4A4):c.694-9C>A
NM_000092.5(COL4A4):c.69C>A (p.Pro23=)
NM_000092.5(COL4A4):c.6G>A (p.Trp2Ter) rs1382380215
NM_000092.5(COL4A4):c.705T>C (p.Gly235=) rs2150869941
NM_000092.5(COL4A4):c.71+10C>A rs374140251
NM_000092.5(COL4A4):c.71+12C>T
NM_000092.5(COL4A4):c.71+1G>A rs1559742015
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000092.5(COL4A4):c.711A>T (p.Gly237=)
NM_000092.5(COL4A4):c.717G>A (p.Lys239=) rs2150869787
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.5(COL4A4):c.72-10T>C
NM_000092.5(COL4A4):c.72-19C>T
NM_000092.5(COL4A4):c.72-1G>T rs2063421489
NM_000092.5(COL4A4):c.72-20G>A
NM_000092.5(COL4A4):c.72-3T>C
NM_000092.5(COL4A4):c.72-6C>T
NM_000092.5(COL4A4):c.721C>A (p.Gln241Lys)
NM_000092.5(COL4A4):c.72G>A (p.Trp24Ter) rs2125348371
NM_000092.5(COL4A4):c.735+10C>A
NM_000092.5(COL4A4):c.735+12C>G
NM_000092.5(COL4A4):c.735+12C>T
NM_000092.5(COL4A4):c.735+18C>T
NM_000092.5(COL4A4):c.735+4A>G
NM_000092.5(COL4A4):c.735+8T>C rs2150869393
NM_000092.5(COL4A4):c.736-10T>A rs201175819
NM_000092.5(COL4A4):c.736-13T>C
NM_000092.5(COL4A4):c.736-13dup rs750699545
NM_000092.5(COL4A4):c.736-14C>T
NM_000092.5(COL4A4):c.736-15G>C
NM_000092.5(COL4A4):c.736-19T>A
NM_000092.5(COL4A4):c.736-4T>A
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000092.5(COL4A4):c.736-8T>A rs1306271313
NM_000092.5(COL4A4):c.736-9T>C rs530821863
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala) rs1559631986
NM_000092.5(COL4A4):c.744T>C (p.Val248=)
NM_000092.5(COL4A4):c.748C>T (p.Gln250Ter) rs2060674137
NM_000092.5(COL4A4):c.750G>A (p.Gln250=) rs2150806337
NM_000092.5(COL4A4):c.753A>G (p.Gln251=) rs1280485234
NM_000092.5(COL4A4):c.759T>A (p.Ser253=)
NM_000092.5(COL4A4):c.75A>G (p.Ser25=) rs2063421212
NM_000092.5(COL4A4):c.762T>A (p.Pro254=) rs2150806188
NM_000092.5(COL4A4):c.762T>C (p.Pro254=) rs2150806188
NM_000092.5(COL4A4):c.764G>A (p.Gly255Glu) rs2060673481
NM_000092.5(COL4A4):c.77_78del (p.Leu26fs)
NM_000092.5(COL4A4):c.786A>C (p.Pro262=)
NM_000092.5(COL4A4):c.786A>T (p.Pro262=) rs1424250203
NM_000092.5(COL4A4):c.792C>T (p.Asp264=)
NM_000092.5(COL4A4):c.794_804del (p.Asp264_Phe265insTer) rs2150805456
NM_000092.5(COL4A4):c.798T>C (p.Cys266=)
NM_000092.5(COL4A4):c.801C>T (p.Leu267=) rs2150805570
NM_000092.5(COL4A4):c.801_802del (p.Leu267_Tyr268insTer) rs2060671183
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
NM_000092.5(COL4A4):c.810A>T (p.Gly270=)
NM_000092.5(COL4A4):c.816+10A>G rs2150805253
NM_000092.5(COL4A4):c.816+14C>G
NM_000092.5(COL4A4):c.816+14C>T
NM_000092.5(COL4A4):c.816+15C>T
NM_000092.5(COL4A4):c.816+18A>G
NM_000092.5(COL4A4):c.816+18_816+19del
NM_000092.5(COL4A4):c.816+19T>C
NM_000092.5(COL4A4):c.816+20G>A
NM_000092.5(COL4A4):c.816+2T>G
NM_000092.5(COL4A4):c.816+7C>T rs2150805314
NM_000092.5(COL4A4):c.816+8C>T rs2150805287
NM_000092.5(COL4A4):c.817-11G>A
NM_000092.5(COL4A4):c.817-11G>T
NM_000092.5(COL4A4):c.817-14A>G
NM_000092.5(COL4A4):c.817-17T>C
NM_000092.5(COL4A4):c.817-1G>A rs2150794687
NM_000092.5(COL4A4):c.817-1G>C rs2150794687
NM_000092.5(COL4A4):c.817-7T>A rs2150794756
NM_000092.5(COL4A4):c.817-9A>C
NM_000092.5(COL4A4):c.818G>T (p.Gly273Val)
NM_000092.5(COL4A4):c.819_821dup (p.Ile274_Lys275insIle)
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.827G>C (p.Gly276Ala)
NM_000092.5(COL4A4):c.841G>T (p.Val281Phe)
NM_000092.5(COL4A4):c.846A>G (p.Gly282=)
NM_000092.5(COL4A4):c.849G>A (p.Leu283=) rs2150794070
NM_000092.5(COL4A4):c.849G>T (p.Leu283=)
NM_000092.5(COL4A4):c.84C>T (p.Leu28=)
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu) rs2060621902
NM_000092.5(COL4A4):c.864A>G (p.Gly288=)
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
NM_000092.5(COL4A4):c.870+10T>A rs2150793409
NM_000092.5(COL4A4):c.870+13A>T
NM_000092.5(COL4A4):c.870+18C>G rs757340940
NM_000092.5(COL4A4):c.870+18C>T
NM_000092.5(COL4A4):c.870+18_870+19del
NM_000092.5(COL4A4):c.870+18del
NM_000092.5(COL4A4):c.870+20T>C
NM_000092.5(COL4A4):c.870+3A>G
NM_000092.5(COL4A4):c.870+7del
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000092.5(COL4A4):c.871-15T>C
NM_000092.5(COL4A4):c.871-16T>C
NM_000092.5(COL4A4):c.871-1G>A rs375450996
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.879T>A (p.Ser293=) rs2150788345
NM_000092.5(COL4A4):c.879T>C (p.Ser293=)
NM_000092.5(COL4A4):c.881G>T (p.Gly294Val)
NM_000092.5(COL4A4):c.885del (p.Ile295fs) rs2150788209
NM_000092.5(COL4A4):c.891A>G (p.Ala297=) rs971208211
NM_000092.5(COL4A4):c.894A>G (p.Lys298=)
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
NM_000092.5(COL4A4):c.901A>G (p.Lys301Glu)
NM_000092.5(COL4A4):c.904G>T (p.Gly302Cys) rs2150787894
NM_000092.5(COL4A4):c.905G>C (p.Gly302Ala)
NM_000092.5(COL4A4):c.905G>T (p.Gly302Val) rs777687210
NM_000092.5(COL4A4):c.913G>A (p.Gly305Arg) rs1045939403
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000092.5(COL4A4):c.921A>G (p.Pro307=)
NM_000092.5(COL4A4):c.924del (p.Pro309fs)
NM_000092.5(COL4A4):c.927T>C (p.Pro309=)
NM_000092.5(COL4A4):c.930+10A>T
NM_000092.5(COL4A4):c.930+18T>C
NM_000092.5(COL4A4):c.930+1G>A rs2150787516
NM_000092.5(COL4A4):c.930+4A>G rs2150787463
NM_000092.5(COL4A4):c.930+8T>C
NM_000092.5(COL4A4):c.931-10A>T rs771370326
NM_000092.5(COL4A4):c.931-12T>C
NM_000092.5(COL4A4):c.931-13G>T
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_000092.5(COL4A4):c.93_94del (p.Ser32fs)
NM_000092.5(COL4A4):c.945C>G (p.Ser315=)
NM_000092.5(COL4A4):c.945dup (p.Tyr316fs)
NM_000092.5(COL4A4):c.951A>G (p.Gly317=) rs2060544429
NM_000092.5(COL4A4):c.954T>G (p.Ser318=) rs1576512293
NM_000092.5(COL4A4):c.958G>A (p.Gly320Ser)
NM_000092.5(COL4A4):c.962T>C (p.Phe321Ser)
NM_000092.5(COL4A4):c.963T>C (p.Phe321=)
NM_000092.5(COL4A4):c.969A>G (p.Gly323=) rs2150777901
NM_000092.5(COL4A4):c.96T>A (p.Ser32=)
NM_000092.5(COL4A4):c.970T>C (p.Leu324=) rs1199765858
NM_000092.5(COL4A4):c.975+11C>G
NM_000092.5(COL4A4):c.975+14A>C
NM_000092.5(COL4A4):c.975+17A>T
NM_000092.5(COL4A4):c.975+18T>C
NM_000092.5(COL4A4):c.975+2T>C
NM_000092.5(COL4A4):c.975+7G>A rs2150777666
NM_000092.5(COL4A4):c.975+7G>T
NM_000092.5(COL4A4):c.975+8T>C
NM_000092.5(COL4A4):c.976-11C>G
NM_000092.5(COL4A4):c.976-11C>T
NM_000092.5(COL4A4):c.976-12G>T
NM_000092.5(COL4A4):c.976-14G>C
NM_000092.5(COL4A4):c.976-19T>A
NM_000092.5(COL4A4):c.976-2A>G
NM_000092.5(COL4A4):c.976-3T>C
NM_000092.5(COL4A4):c.981A>G (p.Glu327=)
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)
NM_000092.5(COL4A4):c.999dup (p.Pro334fs) rs760803010

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