ClinVar Miner

List of variants reported as uncertain significance for Alport syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 766
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000091.5(COL4A3):c.*969G>A rs188150740 0.00620
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.*4194C>T rs540904446 0.00467
NM_000092.5(COL4A4):c.*859A>C rs187539474 0.00416
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe) rs192027050 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000092.5(COL4A4):c.*2962A>G rs181652003 0.00253
NM_000092.5(COL4A4):c.*857G>A rs80142712 0.00247
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000092.5(COL4A4):c.*1346T>C rs55869005 0.00228
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_000091.5(COL4A3):c.-13G>C rs770803750 0.00217
NM_000092.5(COL4A4):c.4090+14T>C rs147376687 0.00207
NM_000091.5(COL4A3):c.*647T>G rs183552783 0.00206
NM_000092.5(COL4A4):c.*3269A>G rs185029960 0.00188
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000092.5(COL4A4):c.*705T>C rs150289717 0.00176
NM_000092.5(COL4A4):c.*2647C>T rs139204655 0.00161
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000091.5(COL4A3):c.*1322T>A rs115338903 0.00158
NM_000091.5(COL4A3):c.4756-13A>T rs190701197 0.00135
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) rs201607115 0.00132
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000092.5(COL4A4):c.*4004_*4005del rs532937469 0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000092.4(COL4A4):c.-555G>A rs79908084 0.00118
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000092.5(COL4A4):c.*4173A>T rs529259159 0.00086
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109 0.00078
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_000091.5(COL4A3):c.*1764A>G rs577379452 0.00071
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000092.5(COL4A4):c.*3410_*3411del rs528949461 0.00068
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg) rs200866082 0.00067
NM_000092.5(COL4A4):c.*3639T>C rs193239835 0.00063
NM_000091.5(COL4A3):c.2489-8G>A rs201846272 0.00061
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000092.5(COL4A4):c.*4545A>G rs569924185 0.00052
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146 0.00050
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260 0.00048
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000091.5(COL4A3):c.829-15C>T rs201021733 0.00046
NM_000092.5(COL4A4):c.*3467C>G rs752632630 0.00046
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=) rs199511948 0.00044
NM_000092.5(COL4A4):c.*1064G>C rs560936685 0.00043
NM_000092.5(COL4A4):c.1205-9A>G rs370706928 0.00043
NM_000091.5(COL4A3):c.-10C>T rs781380101 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000092.5(COL4A4):c.2383+7G>A rs182406906 0.00039
NM_033380.3(COL4A5):c.2510-33A>G rs104886358 0.00039
NM_000092.5(COL4A4):c.*3712T>G rs535103151 0.00038
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000091.5(COL4A3):c.1505-12G>A rs114658110 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_000092.5(COL4A4):c.-134C>G rs530247030 0.00033
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000092.5(COL4A4):c.*1464A>T rs573508041 0.00032
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.*3397T>C rs531406341 0.00027
NM_000092.5(COL4A4):c.*3876G>A rs184473858 0.00026
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475 0.00026
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000092.5(COL4A4):c.*2069T>C rs886055710 0.00023
NM_000092.5(COL4A4):c.*569C>A rs772402371 0.00023
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) rs189574905 0.00021
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000092.5(COL4A4):c.*3948C>T rs886055703 0.00020
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000091.5(COL4A3):c.-26G>T rs747049729 0.00019
NM_000092.5(COL4A4):c.*4534T>C rs767613572 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_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474 0.00016
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 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_000091.5(COL4A3):c.*406G>A rs759265728 0.00014
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000092.5(COL4A4):c.*1171C>T rs545148830 0.00014
NM_000092.5(COL4A4):c.*3159C>A rs559222889 0.00014
NM_000092.5(COL4A4):c.*883C>G rs952959654 0.00014
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_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp) rs200668675 0.00012
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705 0.00011
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.3419-8T>G rs754483986 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000091.5(COL4A3):c.3882+10G>A rs78980950 0.00011
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp) rs759074046 0.00011
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00011
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985 0.00011
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000092.5(COL4A4):c.*2422T>C rs892108516 0.00010
NM_000092.5(COL4A4):c.*2945T>C rs886055707 0.00010
NM_033380.3(COL4A5):c.4087+6A>T rs748429212 0.00010
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) rs890999119 0.00009
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met) rs377136253 0.00009
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650 0.00009
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) rs144036466 0.00009
NM_000092.4(COL4A4):c.-641G>A rs1003987615 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.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000091.5(COL4A3):c.63G>A (p.Leu21=) rs1036829250 0.00008
NM_000092.5(COL4A4):c.2860+13C>T rs374807397 0.00008
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu) rs368137679 0.00008
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr) rs147220200 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_000091.5(COL4A3):c.*1639G>A rs950432432 0.00007
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln) rs921905047 0.00007
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) rs369567469 0.00007
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His) rs893516153 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000092.5(COL4A4):c.*4347C>T rs190602131 0.00007
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_000091.5(COL4A3):c.*1000C>T rs770149608 0.00006
NM_000091.5(COL4A3):c.*1645del rs886055747 0.00006
NM_000091.5(COL4A3):c.*2180C>T rs886055749 0.00006
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.1576-6C>T rs202210023 0.00006
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser) rs767174856 0.00006
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=) rs200125890 0.00006
NM_000091.5(COL4A3):c.3565+9T>G rs750406964 0.00006
NM_000091.5(COL4A3):c.4253-14T>C rs747386514 0.00006
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000092.5(COL4A4):c.*1112G>A rs886055717 0.00006
NM_000092.5(COL4A4):c.*1802T>A rs886055713 0.00006
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.191G>A (p.Arg64Gln) rs371326070 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 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.4291C>T (p.Arg1431Cys) rs536570392 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 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_033380.3(COL4A5):c.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu) rs772037798 0.00005
NM_000091.5(COL4A3):c.1928-4T>C rs376327706 0.00005
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000092.4(COL4A4):c.-341G>A rs886055731 0.00005
NM_000092.5(COL4A4):c.*3938A>G rs192161029 0.00005
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.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.4216+11C>T rs117468095 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_212482.4(FN1):c.833C>G (p.Thr278Ser) rs368428323 0.00005
NM_000091.4(COL4A3):c.-134T>C rs886055734 0.00004
NM_000091.5(COL4A3):c.*1612A>G rs760687020 0.00004
NM_000091.5(COL4A3):c.*2565T>C rs1261742464 0.00004
NM_000091.5(COL4A3):c.*261A>T rs1019244359 0.00004
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.2125+13T>C rs777353565 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=) rs764663555 0.00004
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924 0.00004
NM_000091.5(COL4A3):c.516C>T (p.Asp172=) rs759455097 0.00004
NM_000091.5(COL4A3):c.717A>G (p.Gly239=) rs377503376 0.00004
NM_000091.5(COL4A3):c.870T>C (p.Pro290=) rs373130348 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000092.5(COL4A4):c.*1073del rs149522920 0.00004
NM_000092.5(COL4A4):c.*128G>A rs886055722 0.00004
NM_000092.5(COL4A4):c.*1423T>C rs886055714 0.00004
NM_000092.5(COL4A4):c.*1960C>A rs1035280131 0.00004
NM_000092.5(COL4A4):c.*2033G>A rs886055711 0.00004
NM_000092.5(COL4A4):c.*888G>A rs372146953 0.00004
NM_000092.5(COL4A4):c.*931C>T rs903690028 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.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.2717-3C>T rs191634780 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys) rs370734150 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.4837G>A (p.Gly1613Arg) rs377233046 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val) rs919113147 0.00004
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp) rs138903372 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_000091.5(COL4A3):c.*287G>A rs573135458 0.00003
NM_000091.5(COL4A3):c.*660T>C rs557009121 0.00003
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.1798G>A (p.Asp600Asn) rs781224368 0.00003
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys) rs761717909 0.00003
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854 0.00003
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile) rs574102153 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser) rs761262391 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr) rs772407219 0.00003
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917 0.00003
NM_000092.5(COL4A4):c.*1026G>A rs927436000 0.00003
NM_000092.5(COL4A4):c.*1242C>T rs886055716 0.00003
NM_000092.5(COL4A4):c.*2677T>G rs892742003 0.00003
NM_000092.5(COL4A4):c.*3299A>G rs886055706 0.00003
NM_000092.5(COL4A4):c.*4393G>T rs886055699 0.00003
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) rs777805216 0.00003
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=) rs761238651 0.00003
NM_000092.5(COL4A4):c.3150+14G>T rs201486440 0.00003
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676 0.00003
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly) rs749483911 0.00003
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys) rs372161135 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.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000091.5(COL4A3):c.-16T>C rs886055736 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552 0.00002
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu) rs759579342 0.00002
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00002
NM_000091.5(COL4A3):c.2747-4T>C rs772016854 0.00002
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=) rs758181560 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719 0.00002
NM_000091.5(COL4A3):c.468+9T>C rs754471166 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu) rs371173786 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000092.5(COL4A4):c.-1G>A rs780102207 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 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.2908C>G (p.Gln970Glu) rs372413045 0.00002
NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly) rs770930167 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.3859C>G (p.Leu1287Val) rs571869797 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.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu) rs542384685 0.00002
NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu) rs562914140 0.00002
NM_033380.3(COL4A5):c.1057A>G (p.Ile353Val) rs769214642 0.00002
NM_033380.3(COL4A5):c.142-6T>C rs1047699266 0.00002
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790 0.00002
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys) rs771538814 0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) rs991159149 0.00002
NM_000091.5(COL4A3):c.*1238T>C rs1423033002 0.00001
NM_000091.5(COL4A3):c.*1340T>C rs929078167 0.00001
NM_000091.5(COL4A3):c.*1634G>C rs376587950 0.00001
NM_000091.5(COL4A3):c.*2308T>C rs886055751 0.00001
NM_000091.5(COL4A3):c.*2795T>C rs906294246 0.00001
NM_000091.5(COL4A3):c.*387A>C rs971677230 0.00001
NM_000091.5(COL4A3):c.*501T>C rs1210086779 0.00001
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys) rs778166354 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1423C>G (p.Leu475Val) rs886055738 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp) rs752819997 0.00001
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=) rs758586879 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr) rs572059687 0.00001
NM_000091.5(COL4A3):c.2656+12T>A rs748254625 0.00001
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp) rs1414411811 0.00001
NM_000091.5(COL4A3):c.2750G>A (p.Ser917Asn) rs773119622 0.00001
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val) rs920413118 0.00001
NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala) rs780287240 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) rs769683665 0.00001
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp) rs766420056 0.00001
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg) rs769395979 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3516G>A (p.Thr1172=) rs758035504 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His) rs759579368 0.00001
NM_000091.5(COL4A3):c.388-15T>C rs762513527 0.00001
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742 0.00001
NM_000091.5(COL4A3):c.4153+10T>C rs865866667 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg) rs976882559 0.00001
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg) rs1260966222 0.00001
NM_000091.5(COL4A3):c.4643G>A (p.Cys1548Tyr) rs745466617 0.00001
NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr) rs774089446 0.00001
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val) rs541108316 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 0.00001
NM_000091.5(COL4A3):c.504T>C (p.Asp168=) rs748974369 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg) rs759869958 0.00001
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu) rs2069719935 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000091.5(COL4A3):c.828+9T>C rs2069991819 0.00001
NM_000092.4(COL4A4):c.-408G>A rs554839865 0.00001
NM_000092.5(COL4A4):c.*1173T>C rs1360525515 0.00001
NM_000092.5(COL4A4):c.*1930T>C rs1289208914 0.00001
NM_000092.5(COL4A4):c.*222C>G rs1305583691 0.00001
NM_000092.5(COL4A4):c.*22C>A rs562265530 0.00001
NM_000092.5(COL4A4):c.*4363G>C rs1233339249 0.00001
NM_000092.5(COL4A4):c.*4369C>T rs886055700 0.00001
NM_000092.5(COL4A4):c.*4498T>C rs1481974918 0.00001
NM_000092.5(COL4A4):c.*4583A>G rs886055698 0.00001
NM_000092.5(COL4A4):c.*4599T>C rs1280441510 0.00001
NM_000092.5(COL4A4):c.*833C>T rs886055720 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.1369+15A>C rs1216718864 0.00001
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=) rs771419084 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser) rs2059732638 0.00001
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe) rs570529667 0.00001
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 0.00001
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726 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.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val) rs747881404 0.00001
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val) rs377676207 0.00001
NM_000092.5(COL4A4):c.2383+3A>G rs1351961379 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys) rs1440047357 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.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=) rs762812157 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.3590T>C (p.Val1197Ala) rs946572297 0.00001
NM_000092.5(COL4A4):c.3706+13A>G rs754923656 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354 0.00001
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025 0.00001
NM_000092.5(COL4A4):c.4081+9C>G rs201688381 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.4126C>T (p.Pro1376Ser) rs780131074 0.00001
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln) rs559719653 0.00001
NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222 0.00001
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982 0.00001
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) rs760873029 0.00001
NM_000092.5(COL4A4):c.4766C>T (p.Pro1589Leu) rs768974023 0.00001
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029 0.00001
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg) rs369714481 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.5015A>C (p.Glu1672Ala) rs1354826968 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.5073G>C (p.Ter1691Tyr) rs769660371 0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val) rs369698515 0.00001
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser) rs779795137 0.00001
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser) rs1261138757 0.00001
NM_000092.5(COL4A4):c.673C>A (p.Pro225Thr) rs370606294 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.871-6T>C rs749753913 0.00001
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe) rs758174051 0.00001
NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser) rs1270823192 0.00001
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys) rs757877136 0.00001
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe) rs2066735216 0.00001
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys) rs779033931 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr) rs747918142 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu) rs1397121500 0.00001
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317 0.00001
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr) rs749580257 0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala) rs747041833 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys) rs937985430 0.00001
NM_033390.2(ZC3H12C):c.355C>G (p.Gln119Glu) rs775161683 0.00001
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.5(COL4A3):c.*1032G>A rs886055744
NM_000091.5(COL4A3):c.*1069_*1070del rs11297279
NM_000091.5(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.5(COL4A3):c.*1070del rs11297279
NM_000091.5(COL4A3):c.*1070dup rs11297279
NM_000091.5(COL4A3):c.*1071G>A rs866036167
NM_000091.5(COL4A3):c.*1739C>T rs750139996
NM_000091.5(COL4A3):c.*1918T>C rs767668198
NM_000091.5(COL4A3):c.*2048C>G rs886055748
NM_000091.5(COL4A3):c.*2087A>T rs2073823186
NM_000091.5(COL4A3):c.*2266A>G rs2073829100
NM_000091.5(COL4A3):c.*2272T>C rs886055750
NM_000091.5(COL4A3):c.*2836A>G rs1030825188
NM_000091.5(COL4A3):c.*2853A>C rs768580153
NM_000091.5(COL4A3):c.*454G>T rs2073771672
NM_000091.5(COL4A3):c.*459T>C rs1041353391
NM_000091.5(COL4A3):c.*656T>A rs538761832
NM_000091.5(COL4A3):c.-81G>C rs886055735
NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)
NM_000091.5(COL4A3):c.1029+4A>G rs2125947156
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile) rs2070429834
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser) rs767943108
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu) rs760049264
NM_000091.5(COL4A3):c.1150+4T>A rs200061201
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=) rs2070734491
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp) rs2070738434
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu) rs2070741592
NM_000091.5(COL4A3):c.1307G>T (p.Gly436Val) rs1237274947
NM_000091.5(COL4A3):c.1309C>T (p.Pro437Ser) rs763403545
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys) rs1434266764
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg) rs2071142257
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala) rs2071196765
NM_000091.5(COL4A3):c.1759-11T>A rs1433223189
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala) rs2071331630
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser) rs2071335952
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu) rs2071336508
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg) rs2125996501
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=) rs1574764067
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu) rs2106124698
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser) rs747891356
NM_000091.5(COL4A3):c.2021-9G>C rs773021303
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr) rs1354756195
NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=) rs1238746236
NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg) rs2106147444
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=) rs1251724413
NM_000091.5(COL4A3):c.2374+9dup rs1553759691
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu) rs1559895213
NM_000091.5(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.5(COL4A3):c.2636del (p.Pro879fs) rs2106164640
NM_000091.5(COL4A3):c.2648G>A (p.Gly883Glu) rs2106164814
NM_000091.5(COL4A3):c.2711G>T (p.Gly904Val) rs1174417447
NM_000091.5(COL4A3):c.2747-11C>A rs886055739
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile) rs200873401
NM_000091.5(COL4A3):c.2881+6G>T rs886055740
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3071G>T (p.Gly1024Val)
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu) rs2072647561
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3]) rs1553762295
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.3211-13G>A rs200555661
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly) rs766520935
NM_000091.5(COL4A3):c.3247G>C (p.Gly1083Arg) rs2106226509
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile) rs1574813579
NM_000091.5(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.5(COL4A3):c.3518-15G>C rs2072979600
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=) rs753945261
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.5(COL4A3):c.36C>T (p.Leu12=) rs1189095338
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=) rs2073099504
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly) rs761179248
NM_000091.5(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val) rs2073148750
NM_000091.5(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg) rs757747350
NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.5(COL4A3):c.4027+11G>T rs191002419
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.416G>A (p.Gly139Glu) rs2125911862
NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr) rs2073566607
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly) rs2106283943
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr) rs2106284049
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=) rs2073573869
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg) rs1574840156
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr) rs1195144676
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000091.5(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser) rs2073644777
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu) rs2073645172
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter) rs2106289552
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr) rs2073712176
NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser) rs760284809
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg) rs1553766932
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile) rs371173786
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile) rs749989473
NM_000091.5(COL4A3):c.593G>T (p.Gly198Val) rs2125924674
NM_000091.5(COL4A3):c.610-11G>A rs566045388
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg) rs2069931154
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.766-5G>A rs751236477
NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr) rs2070037501
NM_000091.5(COL4A3):c.87+7G>T rs1358691399
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser) rs765318949
NM_000092.4(COL4A4):c.-301C>T rs2065101251
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.5(COL4A4):c.*1190G>A rs924155482
NM_000092.5(COL4A4):c.*1292A>T rs1962017400
NM_000092.5(COL4A4):c.*1349A>C rs886055715
NM_000092.5(COL4A4):c.*1397A>G rs1961988842
NM_000092.5(COL4A4):c.*1687T>G rs538453112
NM_000092.5(COL4A4):c.*1914A>T rs886055712
NM_000092.5(COL4A4):c.*2021A>G rs1961867304
NM_000092.5(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.5(COL4A4):c.*2120dup rs56983325
NM_000092.5(COL4A4):c.*2259G>A rs886055708
NM_000092.5(COL4A4):c.*2259G>C rs886055708
NM_000092.5(COL4A4):c.*244C>A rs56196639
NM_000092.5(COL4A4):c.*2487C>A rs538994353
NM_000092.5(COL4A4):c.*2732C>T rs1043998157
NM_000092.5(COL4A4):c.*2807T>G rs1961667960
NM_000092.5(COL4A4):c.*2849G>A rs531063842
NM_000092.5(COL4A4):c.*2855C>T rs141795776
NM_000092.5(COL4A4):c.*3156A>G rs748537109
NM_000092.5(COL4A4):c.*318T>G rs1575685645
NM_000092.5(COL4A4):c.*321A>G rs886055721
NM_000092.5(COL4A4):c.*3354C>A rs1961538066
NM_000092.5(COL4A4):c.*345T>A rs1962275393
NM_000092.5(COL4A4):c.*3461A>G rs886055705
NM_000092.5(COL4A4):c.*3791A>C rs1961459136
NM_000092.5(COL4A4):c.*3940T>C rs886055704
NM_000092.5(COL4A4):c.*4041A>G rs1016355173
NM_000092.5(COL4A4):c.*4102dup rs370056635
NM_000092.5(COL4A4):c.*4106C>A rs886055702
NM_000092.5(COL4A4):c.*4135A>T rs886055701
NM_000092.5(COL4A4):c.*4385A>G rs574071910
NM_000092.5(COL4A4):c.*48G>A rs767600758
NM_000092.5(COL4A4):c.*491A>G rs149466995
NM_000092.5(COL4A4):c.*747T>C rs752977716
NM_000092.5(COL4A4):c.*755T>C rs191394048
NM_000092.5(COL4A4):c.*863C>G rs886055719
NM_000092.5(COL4A4):c.*864C>G rs886055718
NM_000092.5(COL4A4):c.*888G>T rs372146953
NM_000092.5(COL4A4):c.-102+10C>G rs867845285
NM_000092.5(COL4A4):c.-102+8G>T rs544582281
NM_000092.5(COL4A4):c.-177G>A rs886055730
NM_000092.5(COL4A4):c.1030-14A>G rs2060400553
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1204+5G>A rs748967270
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr) rs2150686207
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1459+5G>A rs2150615599
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser) rs2059736984
NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser) rs1411689737
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=) rs759226801
NM_000092.5(COL4A4):c.192+1G>A
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly) rs1387537859
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.5(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) rs762682812
NM_000092.5(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu) rs1559677316
NM_000092.5(COL4A4):c.2594del (p.Pro865fs) rs2150235627
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe) rs910142548
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.3089G>T (p.Gly1030Val) rs772699709
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3317G>T (p.Gly1106Val)
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.354A>G (p.Pro118=) rs1432438341
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=) rs1968564790
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val) rs1394140383
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=) rs2149978554
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.5(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.5(COL4A4):c.3974-14T>C rs1427442513
NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)
NM_000092.5(COL4A4):c.4081+14C>T rs1553623984
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=) rs1966135663
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp) rs774471575
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.5(COL4A4):c.4522+4T>G rs1963375507
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg) rs1222616093
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn) rs1962633158
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe) rs1962599188
NM_000092.5(COL4A4):c.4730_4732del (p.Ala1577del) rs1559395809
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.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.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.489+6A>G
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser) rs1039244540
NM_000092.5(COL4A4):c.645G>A (p.Glu215=) rs2061038127
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser) rs773445256
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.816+12A>T rs886055728
NM_000092.5(COL4A4):c.817-6T>G rs2060623868
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.843T>C (p.Val281=) rs1335068296
NM_000092.5(COL4A4):c.846A>C (p.Gly282=) rs553087192
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met) rs2060622187
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000092.5(COL4A4):c.930+5G>A
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1047T>C (p.Pro349=) rs1166405194
NM_033380.3(COL4A5):c.1069G>A (p.Glu357Lys) rs1186225656
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys) rs764743086
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1603C>T (p.Pro535Ser) rs2147809975
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_033380.3(COL4A5):c.1780-11T>A rs2147813162
NM_033380.3(COL4A5):c.1825G>T (p.Gly609Cys)
NM_033380.3(COL4A5):c.1948+4A>C rs1311897513
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_033380.3(COL4A5):c.2086G>C (p.Gly696Arg) rs2147820987
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu) rs2065868609
NM_033380.3(COL4A5):c.2245-3A>G rs1603293513
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_033380.3(COL4A5):c.2543C>T (p.Pro848Leu)
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
NM_033380.3(COL4A5):c.2767+3_2767+14del
NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val) rs2147865541
NM_033380.3(COL4A5):c.3142G>A (p.Gly1048Arg)
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)
NM_033380.3(COL4A5):c.3455-8T>G rs1569505503
NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del)
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=) rs1556445736
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.3808+17G>A rs1603312557
NM_033380.3(COL4A5):c.384+4A>T rs2147746864
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val) rs760570519
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu) rs2066063898
NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr)
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr) rs2147991674
NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=) rs1603326524
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr) rs1057518146
NM_033380.3(COL4A5):c.466G>C (p.Gly156Arg) rs2147759184
NM_033380.3(COL4A5):c.4706+4A>C rs1569508999
NM_033380.3(COL4A5):c.4745T>C (p.Val1582Ala) rs2148001550
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.4831G>A (p.Ala1611Thr) rs2068714182
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu) rs1556463567
NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg) rs866393484
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys) rs2068717823
NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn)
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val) rs1316943771
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys) rs2068734296
NM_033380.3(COL4A5):c.554C>G (p.Pro185Arg)
NM_033380.3(COL4A5):c.609+5G>A
NM_033380.3(COL4A5):c.687+4A>T
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu) rs754849522
NM_033380.3(COL4A5):c.864G>A (p.Lys288=) rs1263254683
NM_033380.3(COL4A5):c.883G>A (p.Gly295Ser) rs2147776763
NM_033380.3(COL4A5):c.891+5G>A rs2147776814
NM_033380.3(COL4A5):c.991-7T>A rs2147784245

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