ClinVar Miner

List of variants in gene COL4A4 studied for Alport syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 797
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.595-111T>C rs6436654 0.71196
NM_000092.5(COL4A4):c.2545+178T>C rs4536647 0.64779
NM_000092.5(COL4A4):c.2545+140T>C rs4566357 0.64768
NM_000092.5(COL4A4):c.2545+51A>G rs7567789 0.64631
NM_000092.5(COL4A4):c.1029+72G>A rs16823202 0.64560
NM_000092.5(COL4A4):c.658-39T>C rs12475686 0.61721
NM_000092.5(COL4A4):c.2545+46A>T rs7567796 0.61276
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_000092.5(COL4A4):c.490-121T>G rs12465531 0.52500
NM_000092.5(COL4A4):c.3214+159A>G rs2272202 0.51677
NM_000092.5(COL4A4):c.3215-66C>T rs2272200 0.51657
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.*4322C>T rs1054413 0.50051
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000092.5(COL4A4):c.4217-24C>T rs10188770 0.48798
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.3973+34T>C rs1917127 0.46756
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.3578-84T>C rs10179756 0.46595
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.694-72G>T rs55741079 0.44490
NM_000092.5(COL4A4):c.*3187G>A rs56324594 0.43204
NM_000092.5(COL4A4):c.4091-36G>A rs3752896 0.42307
NM_000092.5(COL4A4):c.657+67A>G rs58363082 0.21126
NM_000092.5(COL4A4):c.657+62G>A rs59938187 0.20743
NM_000092.5(COL4A4):c.2164+78G>A rs11898094 0.17434
NM_000092.5(COL4A4):c.1987+91T>C rs7597336 0.16109
NM_000092.5(COL4A4):c.-2C>T rs2228558 0.10292
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.10047
NM_000092.5(COL4A4):c.2969-50A>G rs2272205 0.07602
NM_000092.5(COL4A4):c.*4602C>G rs1054415 0.07424
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.*581G>A rs79659665 0.01689
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.-79C>T rs55836847 0.01218
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.*3690A>G rs149243282 0.00945
NM_000092.5(COL4A4):c.*841G>A rs11556632 0.00854
NM_000092.5(COL4A4):c.*4164C>T rs147109071 0.00850
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.*472A>T rs77268230 0.00670
NM_000092.5(COL4A4):c.*2311C>T rs77079951 0.00666
NM_000092.5(COL4A4):c.*2239T>C rs79443960 0.00664
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.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.*718G>C rs183147767 0.00543
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000092.5(COL4A4):c.4091-305C>T rs145689259 0.00487
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.*3636C>T rs147995299 0.00469
NM_000092.5(COL4A4):c.*4194C>T rs540904446 0.00467
NM_000092.5(COL4A4):c.-15T>C rs17353916 0.00433
NM_000092.5(COL4A4):c.4082-8C>T rs139571413 0.00420
NM_000092.5(COL4A4):c.*859A>C rs187539474 0.00416
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.*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_000092.5(COL4A4):c.4090+14T>C rs147376687 0.00207
NM_000092.5(COL4A4):c.2717-15C>A rs143886681 0.00199
NM_000092.5(COL4A4):c.*3269A>G rs185029960 0.00188
NM_000092.5(COL4A4):c.*705T>C rs150289717 0.00176
NM_000092.5(COL4A4):c.*2647C>T rs139204655 0.00161
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
NM_000092.5(COL4A4):c.*4004_*4005del rs532937469 0.00119
NM_000092.4(COL4A4):c.-555G>A rs79908084 0.00118
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.*4173A>T rs529259159 0.00086
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.*3410_*3411del rs528949461 0.00068
NM_000092.5(COL4A4):c.*3639T>C rs193239835 0.00063
NM_000092.5(COL4A4):c.*1465T>A rs75940419 0.00058
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.*4545A>G rs569924185 0.00052
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.*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_000092.5(COL4A4):c.2383+7G>A rs182406906 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_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.-134C>G rs530247030 0.00033
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.3666T>C (p.Pro1222=) rs372838090 0.00029
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_000092.5(COL4A4):c.*2069T>C rs886055710 0.00023
NM_000092.5(COL4A4):c.*569C>A rs772402371 0.00023
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_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.*4534T>C rs767613572 0.00019
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.*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_000092.5(COL4A4):c.1428C>T (p.Pro476=) rs185847845 0.00013
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=) rs199838682 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_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.*2422T>C rs892108516 0.00010
NM_000092.5(COL4A4):c.*2945T>C rs886055707 0.00010
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000092.5(COL4A4):c.595-18G>A rs372991861 0.00010
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_000092.5(COL4A4):c.2751C>T (p.Pro917=) rs544472944 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_000092.5(COL4A4):c.*4347C>T rs190602131 0.00007
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.*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.1962C>T (p.Gly654=) rs376448360 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.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_000092.4(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.4525C>T (p.Leu1509=) rs200849651 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.928C>T (p.Arg310Trp) rs200817090 0.00005
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.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.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.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.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
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.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.2586T>C (p.Pro862=) rs761238651 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.4021C>A (p.Pro1341Thr) rs539867676 0.00003
NM_000092.5(COL4A4):c.4091-18C>T rs368900542 0.00003
NM_000092.5(COL4A4):c.4091-336C>T rs925971110 0.00003
NM_000092.5(COL4A4):c.4091-356_4091-355dup rs1553620826 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.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_000092.5(COL4A4):c.72-18G>A rs770916599 0.00003
NM_000092.5(COL4A4):c.-1G>A rs780102207 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 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.1987+8T>A rs780277266 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.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.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.4091-330T>C rs774439386 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.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu) rs542384685 0.00002
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=) rs371571953 0.00002
NM_000092.5(COL4A4):c.861A>G (p.Pro287=) rs747613100 0.00002
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.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.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.1405G>T (p.Gly469Ter) rs926605269 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 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.1856G>A (p.Gly619Asp) rs374340855 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726 0.00001
NM_000092.5(COL4A4):c.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.2312G>A (p.Gly771Glu) rs781660254 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.2383+9G>C rs746435134 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 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.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.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.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=) rs747784952 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=) rs774011820 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.3978A>G (p.Pro1326=) rs780675797 0.00001
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=) rs750748339 0.00001
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=) rs565940301 0.00001
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354 0.00001
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041 0.00001
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025 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.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser) rs780131074 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 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.4449_4450dup (p.Met1484fs) rs761200469 0.00001
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) rs1003748020 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 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.4803C>T (p.Phe1601=) rs754693636 0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) rs377058706 0.00001
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg) rs369714481 0.00001
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659 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.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.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.559-2A>T rs766243664 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) rs2061040474 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.735+2T>C rs2060993180 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.871-6T>C rs749753913 0.00001
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe) rs758174051 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
NC_000002.12:g.227101910del
NM_000092.4(COL4A4):c.-301C>T rs2065101251
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
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.*2120del 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.*244C>T 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.*4491_*4494dup rs151077907
NM_000092.5(COL4A4):c.*48G>A rs767600758
NM_000092.5(COL4A4):c.*491A>G rs149466995
NM_000092.5(COL4A4):c.*566del rs11314253
NM_000092.5(COL4A4):c.*747T>C rs752977716
NM_000092.5(COL4A4):c.*755T>C rs191394048
NM_000092.5(COL4A4):c.*774dup rs59918285
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.1027A>T (p.Lys343Ter) rs2060519888
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1030-14A>G rs2060400553
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1030-2del rs2150750057
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.1073T>A (p.Leu358Ter)
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1099+1G>T rs1372782305
NM_000092.5(COL4A4):c.114+1G>C rs1553712110
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=) rs759536932
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val)
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs) rs2060340440
NM_000092.5(COL4A4):c.1204+5G>A rs748967270
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.1240G>T (p.Gly414Cys) rs373150214
NM_000092.5(COL4A4):c.1268del (p.Gly423fs)
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.1324G>T (p.Gly442Cys) rs2060086619
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1370-17C>A rs369350196
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.139del (p.Cys47fs)
NM_000092.5(COL4A4):c.1400del (p.Pro467fs)
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) rs2059821994
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs)
NM_000092.5(COL4A4):c.1459+16dup rs763434195
NM_000092.5(COL4A4):c.1459+1G>A
NM_000092.5(COL4A4):c.1459+5G>A rs2150615599
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.1522C>T (p.Pro508Ser) rs2059736984
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) rs2150595867
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter)
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) rs2150595484
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
NM_000092.5(COL4A4):c.1578del (p.Gly527fs) rs2059733367
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter) rs768245333
NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter) rs2059358378
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1697-1G>A rs1559569975
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser) rs1411689737
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs)
NM_000092.5(COL4A4):c.186dup (p.Ser63fs)
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=) rs759226801
NM_000092.5(COL4A4):c.192+1G>A
NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA rs1576812577
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val) rs2059121113
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly) rs1387537859
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter) rs2059119564
NM_000092.5(COL4A4):c.1987+15dup rs754189803
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.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter) rs1976602205
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.2155G>C (p.Gly719Arg)
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+15_2164+16insTTTG
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG rs749658792
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)
NM_000092.5(COL4A4):c.2207del (p.Lys736fs)
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2241del (p.Gly748fs)
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs) rs1976337637
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.2346del (p.Gly783fs)
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu) rs1559677316
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter)
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2594del (p.Pro865fs) rs2150235627
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter) rs768902127
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.2629_2664del (p.Arg877_Gly888del) rs2150234491
NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)
NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs) rs1553641611
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu) rs2150221180
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter) rs2061755379
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
NM_000092.5(COL4A4):c.2880dup (p.Asp961fs)
NM_000092.5(COL4A4):c.2894dup (p.Met965fs)
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) rs372413045
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=) rs762735176
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs) rs1974295317
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.2968+1G>T
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter) rs1974009894
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter) rs746105339
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter)
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter)
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter) rs1973992894
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) rs1576129421
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)
NM_000092.5(COL4A4):c.3151-2A>G rs1369097739
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter)
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg) rs1973758214
NM_000092.5(COL4A4):c.3214+129G>C rs2272203
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+1G>T rs747167770
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter) rs1973140216
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter) rs1973132502
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)
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.3317G>T (p.Gly1106Val)
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter) rs1971792460
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val)
NM_000092.5(COL4A4):c.3398-5C>G rs1334751349
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter) rs1971610561
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)
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.3559G>A (p.Gly1187Arg) rs1968850188
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter) rs1968848668
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=) rs1575931307
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg) rs1968585119
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) rs781360383
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=) rs1968564790
NM_000092.5(COL4A4):c.3699_3706+1del
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val) rs1394140383
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)
NM_000092.5(COL4A4):c.372+2T>G rs1553696207
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=) rs2149978554
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs)
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.3834dup (p.Gly1279fs) rs1553625684
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp) rs777134408
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.3974-12dup rs200823182
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.4002_4005dup (p.His1336fs) rs1553624127
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.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)
NM_000092.5(COL4A4):c.4081+14C>T rs1553623984
NM_000092.5(COL4A4):c.4081+15T>C rs1356475870
NM_000092.5(COL4A4):c.4081+22A>C rs1553623967
NM_000092.5(COL4A4):c.4081+22A>G rs1553623967
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.5(COL4A4):c.4091-323A>G rs774221440
NM_000092.5(COL4A4):c.4091-346A>G rs753906137
NM_000092.5(COL4A4):c.4091-348T>C rs1553620812
NM_000092.5(COL4A4):c.4091-349G>A rs1434118080
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter) rs2149854376
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=) rs1966135663
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter)
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=) rs2149764265
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.4324G>T (p.Gly1442Ter) rs1963884904
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del) rs2149745228
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg) rs1963420059
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) rs1963402519
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp) rs774471575
NM_000092.5(COL4A4):c.4460_4463dup (p.Trp1488fs) rs1575714693
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.5(COL4A4):c.4508del (p.His1503fs) rs1963379793
NM_000092.5(COL4A4):c.4522+4T>G rs1963375507
NM_000092.5(COL4A4):c.4523-1G>A
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs) rs2149722718
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.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) rs1962628992
NM_000092.5(COL4A4):c.4628_4631del (p.Leu1543fs) rs1575696646
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe) rs1962599188
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) rs2149720690
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.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs) rs1206142672
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.4809+1G>A rs1553612309
NM_000092.5(COL4A4):c.4809+7dup rs759784585
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.487dup (p.Leu163fs)
NM_000092.5(COL4A4):c.489+6A>G
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp) rs2061397001
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg)
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.555dup (p.Gln186fs) rs2061393958
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
NM_000092.5(COL4A4):c.558+1G>A rs2061393783
NM_000092.5(COL4A4):c.559-2A>C rs766243664
NM_000092.5(COL4A4):c.567_568del (p.Asp191fs)
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser) rs1039244540
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter)
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.5(COL4A4):c.645G>A (p.Glu215=) rs2061038127
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs) rs1576571835
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.5(COL4A4):c.710del (p.Gly237fs) rs2060994755
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala) rs2060993539
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)
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.836G>A (p.Gly279Glu) rs2060622881
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.853G>A (p.Gly285Arg) rs2150793962
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
NM_000092.5(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
NM_000092.5(COL4A4):c.930+5G>A
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) rs1005389790
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter) rs34509421
NM_000092.5(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter) rs2060521689
NM_000092.5:c.1205_1369del

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