ClinVar Miner

List of variants studied for autosomal recessive Alport syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 956
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.442-88A>G rs4321358 0.97899
NM_000091.5(COL4A3):c.2375-66C>T rs6436671 0.92995
NM_000091.5(COL4A3):c.2223+100G>T rs6729152 0.92901
NM_000091.5(COL4A3):c.2881+46A>G rs6436672 0.86693
NM_000091.5(COL4A3):c.145-99C>T rs7579991 0.77329
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_000091.5(COL4A3):c.765+49T>G rs12621551 0.77016
NM_000091.5(COL4A3):c.441+146G>T rs10168566 0.75094
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_000091.5(COL4A3):c.324+73C>T rs6750210 0.72318
NM_000092.5(COL4A4):c.595-111T>C rs6436654 0.71196
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.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.4091-36G>A rs3752896 0.42307
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000091.5(COL4A3):c.828+59C>G rs7559693 0.32638
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_000091.5(COL4A3):c.4154-69C>T rs11680670 0.27813
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_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_000091.5(COL4A3):c.1576-60G>A rs73993878 0.13711
NM_000091.5(COL4A3):c.828+20A>G rs13386404 0.12468
NM_000091.5(COL4A3):c.3419-39C>T rs4675163 0.12458
NM_000091.5(COL4A3):c.889-39T>C rs28470865 0.11238
NM_000091.5(COL4A3):c.987+35T>G rs10933172 0.10155
NM_000091.5(COL4A3):c.468+139C>T rs12612699 0.10086
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000092.5(COL4A4):c.2969-50A>G rs2272205 0.07602
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_000091.5(COL4A3):c.888+30G>A rs35467545 0.07260
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188 0.06909
NM_000091.5(COL4A3):c.1576-15T>G rs56243460 0.06412
NM_000091.5(COL4A3):c.2021-54T>C rs55643512 0.06366
NM_000091.5(COL4A3):c.280-40T>G rs11386485 0.06240
NM_000091.5(COL4A3):c.687+103T>A rs55997063 0.06185
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_000091.5(COL4A3):c.988-80T>C rs56326869 0.01910
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000091.5(COL4A3):c.3882+132T>C rs11677093 0.01240
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
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.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000091.5(COL4A3):c.888+17G>A rs199840268 0.00068
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000091.5(COL4A3):c.21C>A (p.Pro7=) rs530353117 0.00041
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.2489-18T>A rs79573480 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000091.5(COL4A3):c.204T>C (p.Pro68=) rs200170381 0.00026
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000092.5(COL4A4):c.930+11T>C rs531340239 0.00020
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_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=) rs187921460 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.2717-17T>C rs183421243 0.00015
NM_000091.5(COL4A3):c.2125+14T>A rs563131123 0.00014
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=) rs554940562 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.442-15T>C rs770450269 0.00013
NM_000091.5(COL4A3):c.468+8A>G rs374368957 0.00013
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_000091.5(COL4A3):c.4407T>C (p.Ser1469=) rs373720128 0.00012
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_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401 0.00011
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.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.595-18G>A rs372991861 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.4755+18A>G rs553695911 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 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_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.4314T>C (p.Pro1438=) rs750401163 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_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 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.1129C>T (p.Arg377Cys) rs555143841 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.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.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_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.1992del (p.Gly665fs) rs751677704 0.00005
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=) rs755312698 0.00005
NM_000091.5(COL4A3):c.325-20G>A rs760968700 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 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_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
NM_000091.5(COL4A3):c.1115-12A>G rs761088575 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 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.3211-13G>C rs200555661 0.00004
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069 0.00004
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000091.5(COL4A3):c.988-6C>T rs762463604 0.00004
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 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.2925G>A (p.Gly975=) rs559743197 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 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.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_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.2489-9C>T rs749574789 0.00003
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys) rs761717909 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000091.5(COL4A3):c.714G>A (p.Pro238=) rs555225084 0.00003
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917 0.00003
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) rs777805216 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.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.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_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=) rs748004604 0.00002
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=) rs751356130 0.00002
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu) rs759579342 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 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.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu) rs371173786 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.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 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.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.4091-330T>C rs774439386 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_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.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.145-2_145-1del rs1491486533 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=) rs749945759 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=) rs376896231 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=) rs758586879 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) rs1396602090 0.00001
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=) rs776512229 0.00001
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter) rs2071839316 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.2488_2488+2del rs1363058249 0.00001
NM_000091.5(COL4A3):c.2489-5C>T rs1351916467 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val) rs920413118 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085 0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) rs769683665 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 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.3337+15T>C rs1230244758 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=) rs754567461 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser) rs761347389 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.3751+1G>A rs781566652 0.00001
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His) rs759579368 0.00001
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=) rs376887131 0.00001
NM_000091.5(COL4A3):c.388-15T>C rs762513527 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 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.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg) rs1260966222 0.00001
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=) rs1309123639 0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=) rs542100614 0.00001
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val) rs541108316 0.00001
NM_000091.5(COL4A3):c.4756-68A>G rs1042360366 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.4851T>C (p.His1617=) rs74379096 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 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.933+9T>C rs752703682 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000092.4(COL4A4):c.-408G>A rs554839865 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.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.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.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2383+9G>C rs746435134 0.00001
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982 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.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) rs554736387 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 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.410G>A (p.Gly137Asp) rs377511303 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.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.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.4803C>T (p.Phe1601=) rs754693636 0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) rs377058706 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.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.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.64G>A (p.Gly22Ser) rs779795137 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs)
NM_000091.5(COL4A3):c.1029+4A>G rs2125947156
NM_000091.5(COL4A3):c.1042_1043delinsT (p.Asp348fs)
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)
NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu)
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter) rs1348174898
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter) rs2070736908
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1307G>T (p.Gly436Val) rs1237274947
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1361del (p.Pro454fs)
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1408+35C>T rs771642290
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter) rs2070901479
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
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.1504+1G>A rs1559882199
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter) rs2068937789
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter) rs921768118
NM_000091.5(COL4A3):c.1572dup (p.Pro525fs)
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) rs2071189852
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)
NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs)
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.1682_1685del (p.Gln561fs)
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter) rs920504687
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1759-11T>A rs1433223189
NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs)
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.1806_1814del (p.603SPG[1]) rs1444785718
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter) rs773515249
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.1865G>A (p.Gly622Glu) rs2125996486
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg) rs2125996501
NM_000091.5(COL4A3):c.1879del (p.Gln627fs)
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.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr) rs1354756195
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) rs2106132144
NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2076_2077del (p.Glu693fs)
NM_000091.5(COL4A3):c.2126-1G>C rs2071831565
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) rs267599232
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2]) rs1553759665
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) rs2106151987
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.2375-18T>C rs1449018778
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2439del (p.Arg814fs) rs2106154439
NM_000091.5(COL4A3):c.2444dup (p.Ala816fs)
NM_000091.5(COL4A3):c.2456_2457insACTGTCTCTTA (p.Pro820fs)
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter) rs2072046147
NM_000091.5(COL4A3):c.2591_2592insT (p.Gln864fs)
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter) rs2072047738
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.2636del (p.Pro879fs) rs2106164640
NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs)
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2746+9T>C rs367574148
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.280-10_280-9del rs768505729
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter) rs2069240492
NM_000091.5(COL4A3):c.2830_2831delinsG (p.Pro944fs)
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter) rs2072184526
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
NM_000091.5(COL4A3):c.2870del (p.Pro957fs)
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs) rs1559904445
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter) rs2072530756
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.5(COL4A3):c.304dup (p.Ser102fs)
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) rs2072649241
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter) rs2072651666
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3]) rs1553762295
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.3206del (p.Pro1069fs)
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3211-7A>G rs2106226162
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
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.325-18G>T rs777117192
NM_000091.5(COL4A3):c.325-1G>A rs762518741
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)
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.3327_3330del (p.Gly1110fs)
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter) rs2072936269
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter) rs2072936529
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter) rs2072936636
NM_000091.5(COL4A3):c.3419-4del rs35803812
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) rs2106235905
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.3561_3562del (p.Gln1188fs)
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter) rs2072983130
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=) rs753945261
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) rs1553764136
NM_000091.5(COL4A3):c.3647del (p.Gly1216fs)
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.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs)
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly) rs761179248
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=) rs112516617
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg) rs2106250807
NM_000091.5(COL4A3):c.384T>C (p.Ser128=) rs2125910138
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.3915del (p.Arg1306fs)
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter) rs2073363435
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs)
NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.5(COL4A3):c.4004del (p.Pro1335fs)
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter) rs2073400756
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter) rs2073401408
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4100del (p.Gly1367fs)
NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter) rs2106271012
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter) rs2073446479
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)
NM_000091.5(COL4A3):c.4253-51G>A rs73993953
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter) rs2073567181
NM_000091.5(COL4A3):c.4298del (p.Gly1433fs)
NM_000091.5(COL4A3):c.4307del (p.Gly1436fs)
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr) rs2106284049
NM_000091.5(COL4A3):c.4318del (p.Thr1440fs) rs2106284079
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=) rs2073573869
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del) rs570469692
NM_000091.5(COL4A3):c.441+150G>T rs10168567
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)
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.4515C>A (p.Cys1505Ter) rs2073628823
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter) rs2073630720
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)
NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs)
NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs)
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.468+1G>A rs1553751122
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser) rs2073644777
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter) rs2106289552
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.4756-1G>A rs1553766735
NM_000091.5(COL4A3):c.4756-69A>G rs2106294242
NM_000091.5(COL4A3):c.4756-74A>C rs2106294221
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.5(COL4A3):c.4929-388G>T rs1325453230
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.547G>T (p.Gly183Cys) rs2069716520
NM_000091.5(COL4A3):c.570del (p.Pro191fs)
NM_000091.5(COL4A3):c.610-1G>A
NM_000091.5(COL4A3):c.615del (p.Pro206fs)
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) rs2069900248
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000091.5(COL4A3):c.700_701del (p.Leu234fs)
NM_000091.5(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer)
NM_000091.5(COL4A3):c.766-5G>A rs751236477
NM_000091.5(COL4A3):c.766-7T>C rs777532605
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) rs2125934541
NM_000091.5(COL4A3):c.803dup (p.Glu269fs)
NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000091.5(COL4A3):c.828+84T>G rs2125935070
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.5(COL4A3):c.894del (p.Lys298fs) rs2070145822
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410
NM_000091.5(COL4A3):c.94_95del (p.Val32fs)
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter) rs768527987
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.1027A>T (p.Lys343Ter) rs2060519888
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1029+7A>G
NM_000092.5(COL4A4):c.1030-14A>G rs2060400553
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.1204+5G>A rs748967270
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs) rs2150687684
NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg)
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.1352G>T (p.Gly451Val)
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.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.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.145G>T (p.Gly49Ter)
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.1505del (p.Pro502fs)
NM_000092.5(COL4A4):c.1517G>A (p.Gly506Glu)
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>A (p.Gly515Glu)
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) rs2150595484
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.1615G>A (p.Gly539Arg)
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
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.171T>A (p.Cys57Ter)
NM_000092.5(COL4A4):c.1724G>A (p.Gly575Glu)
NM_000092.5(COL4A4):c.1724G>C (p.Gly575Ala)
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
NM_000092.5(COL4A4):c.1759G>T (p.Gly587Cys)
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
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.193-2del
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.193G>C (p.Gly65Arg)
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.1981C>T (p.Gln661Ter)
NM_000092.5(COL4A4):c.1987+15dup rs754189803
NM_000092.5(COL4A4):c.1987G>A (p.Gly663Ser)
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.2056+3A>G
NM_000092.5(COL4A4):c.2074G>A (p.Gly692Ser)
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.213_239del (p.Pro72_Gly80del)
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>A (p.Pro720Gln)
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG rs749658792
NM_000092.5(COL4A4):c.2169del (p.Arg724fs)
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp)
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.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.2375G>A (p.Gly792Glu)
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.2608G>A (p.Gly870Ser)
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.2698G>T (p.Gly900Cys)
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.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.3080G>T (p.Gly1027Val)
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
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.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.3262G>A (p.Gly1088Ser)
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
NM_000092.5(COL4A4):c.327+1_327+5del
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.3289+3A>G
NM_000092.5(COL4A4):c.3290-270_3505+364del
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.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.3471_3472dup (p.Asp1158fs)
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg) rs1968850188
NM_000092.5(COL4A4):c.3560G>C (p.Gly1187Ala)
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.3585_3588dup (p.Val1197Ter)
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.3636_3637del (p.Gly1213fs)
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) rs781360383
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.3768C>G (p.Asp1256Glu)
NM_000092.5(COL4A4):c.3836G>T (p.Gly1279Val)
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.3882_3883del (p.Cys1294fs) rs2149956832
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.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.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.4082-1G>C
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.4125T>A (p.Cys1375Ter)
NM_000092.5(COL4A4):c.4192G>A (p.Gly1398Arg)
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
NM_000092.5(COL4A4):c.4217-8_4217-7del
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=) rs2149764265
NM_000092.5(COL4A4):c.4279G>A (p.Gly1427Arg)
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.4395dup (p.Phe1466fs)
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) rs1963402519
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4508del (p.His1503fs) rs1963379793
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.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) rs1962628992
NM_000092.5(COL4A4):c.4625G>A (p.Trp1542Ter)
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4650del (p.Pro1550_Met1551insTer)
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.4727T>C (p.Val1576Ala)
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) 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.4809+1G>A rs1553612309
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.509G>A (p.Gly170Glu)
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.594+1G>A rs1553690565
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.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg)
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
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.724dup (p.Met242fs)
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala) rs2060993539
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.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg) rs2150793962
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000092.5(COL4A4):c.915_930+1del
NM_000092.5(COL4A4):c.930+1G>T
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) 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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