ClinVar Miner

List of variants in gene COL4A4 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 429
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 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.1055C>T (p.Pro352Leu) rs371717486 0.00016
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
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.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu) rs746621296 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.1460-6G>A rs771213140 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.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu) rs200411532 0.00006
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln) rs371326070 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.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.4961C>T (p.Thr1654Met) rs771066050 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=) rs772517977 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser) rs372558522 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2717-3C>T rs191634780 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 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.4837G>A (p.Gly1613Arg) rs377233046 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000092.5(COL4A4):c.90C>T (p.Leu30=) rs747805491 0.00004
NM_000092.5(COL4A4):c.980A>G (p.Glu327Gly) rs375714304 0.00004
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) rs899227425 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.-1G>A rs780102207 0.00002
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys) rs750707504 0.00002
NM_000092.5(COL4A4):c.1276G>A (p.Gly426Arg) rs552375817 0.00002
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=) rs374935235 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.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.372+7A>G rs1483461114 0.00002
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile) rs368105222 0.00002
NM_000092.5(COL4A4):c.4322C>G (p.Pro1441Arg) rs192942886 0.00002
NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His) rs200109045 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000092.5(COL4A4):c.490-3C>G rs762040845 0.00002
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu) rs542384685 0.00002
NM_000092.5(COL4A4):c.539G>A (p.Gly180Asp) rs770685084 0.00002
NM_000092.5(COL4A4):c.1036C>T (p.Pro346Ser) rs1042927949 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.1225C>T (p.Pro409Ser) rs377292825 0.00001
NM_000092.5(COL4A4):c.123G>C (p.Lys41Asn) rs1162611784 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe) rs570529667 0.00001
NM_000092.5(COL4A4):c.1792C>A (p.Pro598Thr) rs1411689737 0.00001
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn) rs747599746 0.00001
NM_000092.5(COL4A4):c.1961G>A (p.Gly654Asp) rs1158615890 0.00001
NM_000092.5(COL4A4):c.1988-3C>T rs752688851 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg) rs202243658 0.00001
NM_000092.5(COL4A4):c.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.2407C>T (p.Leu803=) rs762646235 0.00001
NM_000092.5(COL4A4):c.242C>A (p.Ala81Asp) rs747022394 0.00001
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.264A>G (p.Ser88=) rs746574978 0.00001
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys) rs1440047357 0.00001
NM_000092.5(COL4A4):c.2860+3A>C rs1214723450 0.00001
NM_000092.5(COL4A4):c.2888G>A (p.Gly963Glu) rs1396467090 0.00001
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) rs1450052915 0.00001
NM_000092.5(COL4A4):c.3214+6G>A rs372554120 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala) rs371803356 0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000092.5(COL4A4):c.3805G>C (p.Asp1269His) rs763515232 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.4273T>C (p.Ser1425Pro) rs764494474 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.4412A>C (p.His1471Pro) rs762796207 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4624T>C (p.Trp1542Arg) rs1161192021 0.00001
NM_000092.5(COL4A4):c.4643C>T (p.Pro1548Leu) rs761671093 0.00001
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu) rs901711159 0.00001
NM_000092.5(COL4A4):c.4910G>A (p.Arg1637Gln) rs937092831 0.00001
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.641G>A (p.Gly214Glu) rs2061038363 0.00001
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser) rs779795137 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.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) rs762043158 0.00001
NC_000002.11:g.(?_227886744)_(227890546_?)del
NC_000002.11:g.(?_227890498)_(227890546_?)del
NC_000002.11:g.(?_227912181)_(227912275_?)del
NC_000002.11:g.(?_227945159)_(228012196_?)dup
NC_000002.11:g.(?_227946811)_(227954693_?)dup
NC_000002.11:g.(?_227946831)_(227954673_?)dup
NM_000092.5(COL4A4):c.1007T>C (p.Leu336Pro) rs2150773325
NM_000092.5(COL4A4):c.1028A>C (p.Lys343Thr)
NM_000092.5(COL4A4):c.1029+11A>G
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.5(COL4A4):c.103T>C (p.Tyr35His) rs2063418861
NM_000092.5(COL4A4):c.1048G>A (p.Gly350Arg)
NM_000092.5(COL4A4):c.1051C>T (p.His351Tyr)
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe) rs374680846
NM_000092.5(COL4A4):c.1087C>T (p.Leu363Phe)
NM_000092.5(COL4A4):c.1091C>T (p.Pro364Leu)
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1100-20T>G
NM_000092.5(COL4A4):c.1100-3C>T
NM_000092.5(COL4A4):c.1111G>T (p.Asp371Tyr)
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg) rs2150739928
NM_000092.5(COL4A4):c.1159C>T (p.Pro387Ser) rs1351733260
NM_000092.5(COL4A4):c.1162G>A (p.Gly388Ser)
NM_000092.5(COL4A4):c.1180G>A (p.Gly394Ser) rs2150739370
NM_000092.5(COL4A4):c.1204+5G>A rs748967270
NM_000092.5(COL4A4):c.1204+7A>G rs2060338870
NM_000092.5(COL4A4):c.1226C>T (p.Pro409Leu)
NM_000092.5(COL4A4):c.1228C>G (p.Gln410Glu)
NM_000092.5(COL4A4):c.1229A>G (p.Gln410Arg)
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp) rs2150687507
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile)
NM_000092.5(COL4A4):c.1292C>T (p.Ala431Val)
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del) rs1362664502
NM_000092.5(COL4A4):c.1304C>A (p.Pro435Gln)
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr) rs2150686207
NM_000092.5(COL4A4):c.1361G>C (p.Gly454Ala) rs2150685500
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=) rs774673142
NM_000092.5(COL4A4):c.1426C>A (p.Pro476Thr) rs780544830
NM_000092.5(COL4A4):c.142G>C (p.Gly48Arg)
NM_000092.5(COL4A4):c.1460G>A (p.Gly487Glu) rs1064796418
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.1477G>T (p.Ala493Ser)
NM_000092.5(COL4A4):c.1487C>T (p.Pro496Leu) rs2150596608
NM_000092.5(COL4A4):c.1505C>G (p.Pro502Arg)
NM_000092.5(COL4A4):c.1508G>T (p.Gly503Val) rs2059737659
NM_000092.5(COL4A4):c.1551G>T (p.Leu517Phe)
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu) rs564334744
NM_000092.5(COL4A4):c.1573A>G (p.Thr525Ala)
NM_000092.5(COL4A4):c.1623+3G>C
NM_000092.5(COL4A4):c.1634G>T (p.Gly545Val)
NM_000092.5(COL4A4):c.1690G>A (p.Val564Ile)
NM_000092.5(COL4A4):c.169T>C (p.Cys57Arg)
NM_000092.5(COL4A4):c.1700A>G (p.His567Arg) rs2150506568
NM_000092.5(COL4A4):c.1718C>T (p.Pro573Leu)
NM_000092.5(COL4A4):c.1750G>A (p.Gly584Arg)
NM_000092.5(COL4A4):c.1756C>A (p.His586Asn)
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
NM_000092.5(COL4A4):c.1772A>C (p.His591Pro)
NM_000092.5(COL4A4):c.1774G>C (p.Ala592Pro)
NM_000092.5(COL4A4):c.1778G>A (p.Gly593Glu)
NM_000092.5(COL4A4):c.1804-7T>G rs2150477819
NM_000092.5(COL4A4):c.1805G>A (p.Gly602Glu)
NM_000092.5(COL4A4):c.1811A>G (p.His604Arg)
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala) rs1263397268
NM_000092.5(COL4A4):c.1829G>A (p.Gly610Asp) rs2150477193
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser) rs758860164
NM_000092.5(COL4A4):c.1865G>A (p.Gly622Asp)
NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val) rs2150476651
NM_000092.5(COL4A4):c.1877C>T (p.Pro626Leu) rs1468423581
NM_000092.5(COL4A4):c.192+3A>G
NM_000092.5(COL4A4):c.192+5G>A
NM_000092.5(COL4A4):c.1952G>A (p.Gly651Asp) rs2059121113
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn)
NM_000092.5(COL4A4):c.1987+4A>G rs1559562567
NM_000092.5(COL4A4):c.2014T>C (p.Tyr672His) rs2150312695
NM_000092.5(COL4A4):c.2023A>T (p.Arg675Trp) rs1018765959
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg)
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
NM_000092.5(COL4A4):c.2124A>T (p.Arg708Ser) rs2150287552
NM_000092.5(COL4A4):c.2131A>G (p.Thr711Ala)
NM_000092.5(COL4A4):c.2135C>T (p.Pro712Leu)
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.5(COL4A4):c.2164+13_2164+14insTTTGT
NM_000092.5(COL4A4):c.2165-4A>G rs776551903
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu)
NM_000092.5(COL4A4):c.2191G>C (p.Gly731Arg)
NM_000092.5(COL4A4):c.2195T>A (p.Phe732Tyr)
NM_000092.5(COL4A4):c.2208G>C (p.Lys736Asn) rs1976364730
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser)
NM_000092.5(COL4A4):c.2224G>A (p.Gly742Arg)
NM_000092.5(COL4A4):c.2246C>T (p.Ser749Leu)
NM_000092.5(COL4A4):c.226A>G (p.Ile76Val)
NM_000092.5(COL4A4):c.2335C>T (p.Pro779Ser)
NM_000092.5(COL4A4):c.2377G>A (p.Ala793Thr)
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly)
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2428G>A (p.Gly810Ser) rs1975763905
NM_000092.5(COL4A4):c.2432G>C (p.Arg811Thr)
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.2459T>A (p.Val820Asp)
NM_000092.5(COL4A4):c.2474G>A (p.Gly825Asp)
NM_000092.5(COL4A4):c.2479T>C (p.Ser827Pro)
NM_000092.5(COL4A4):c.2533C>T (p.Pro845Ser)
NM_000092.5(COL4A4):c.2585C>G (p.Pro862Arg)
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_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly)
NM_000092.5(COL4A4):c.2635G>A (p.Gly879Arg)
NM_000092.5(COL4A4):c.263C>T (p.Ser88Leu)
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr) rs200761108
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp) rs1425028482
NM_000092.5(COL4A4):c.26T>C (p.Met9Thr)
NM_000092.5(COL4A4):c.2726G>T (p.Gly909Val)
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
NM_000092.5(COL4A4):c.275G>A (p.Gly92Glu) rs2125036772
NM_000092.5(COL4A4):c.2766G>C (p.Lys922Asn)
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
NM_000092.5(COL4A4):c.2803C>A (p.Pro935Thr)
NM_000092.5(COL4A4):c.2842G>A (p.Gly948Arg)
NM_000092.5(COL4A4):c.2846T>C (p.Leu949Pro)
NM_000092.5(COL4A4):c.2860G>A (p.Gly954Arg) rs2150219187
NM_000092.5(COL4A4):c.2956C>T (p.Pro986Ser) rs1576142052
NM_000092.5(COL4A4):c.2963A>G (p.Glu988Gly) rs1200638480
NM_000092.5(COL4A4):c.2971G>C (p.Asp991His)
NM_000092.5(COL4A4):c.2977G>A (p.Gly993Arg)
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp)
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3029C>T (p.Pro1010Leu)
NM_000092.5(COL4A4):c.304G>A (p.Ala102Thr)
NM_000092.5(COL4A4):c.3055G>A (p.Glu1019Lys)
NM_000092.5(COL4A4):c.3061G>C (p.Gly1021Arg)
NM_000092.5(COL4A4):c.3070G>T (p.Gly1024Trp) rs2150182132
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro)
NM_000092.5(COL4A4):c.3083C>T (p.Pro1028Leu) rs1403780482
NM_000092.5(COL4A4):c.3089G>C (p.Gly1030Ala)
NM_000092.5(COL4A4):c.3115G>A (p.Gly1039Arg)
NM_000092.5(COL4A4):c.3145G>A (p.Asp1049Asn)
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala)
NM_000092.5(COL4A4):c.3152G>T (p.Gly1051Val)
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg)
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3200C>T (p.Ala1067Val) rs1392922149
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu) rs2150172344
NM_000092.5(COL4A4):c.3228C>A (p.Asp1076Glu)
NM_000092.5(COL4A4):c.3263G>A (p.Gly1088Asp) rs2150149041
NM_000092.5(COL4A4):c.3301G>T (p.Ala1101Ser) rs2150103907
NM_000092.5(COL4A4):c.3304T>A (p.Ser1102Thr)
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
NM_000092.5(COL4A4):c.3331C>A (p.Gln1111Lys)
NM_000092.5(COL4A4):c.3349C>T (p.Pro1117Ser)
NM_000092.5(COL4A4):c.334A>G (p.Thr112Ala) rs1649155828
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
NM_000092.5(COL4A4):c.3358C>T (p.Pro1120Ser)
NM_000092.5(COL4A4):c.3386C>G (p.Pro1129Arg)
NM_000092.5(COL4A4):c.3397G>T (p.Gly1133Cys)
NM_000092.5(COL4A4):c.3460G>A (p.Gly1154Ser) rs2150094978
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp)
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp) rs1559480099
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser)
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn)
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys)
NM_000092.5(COL4A4):c.3638G>A (p.Gly1213Glu)
NM_000092.5(COL4A4):c.3643C>G (p.Pro1215Ala)
NM_000092.5(COL4A4):c.3650G>T (p.Ser1217Ile)
NM_000092.5(COL4A4):c.3667C>T (p.Pro1223Ser) rs771575941
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
NM_000092.5(COL4A4):c.3679G>A (p.Gly1227Arg) rs1968570122
NM_000092.5(COL4A4):c.3689G>A (p.Gly1230Asp)
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala)
NM_000092.5(COL4A4):c.373G>C (p.Gly125Arg) rs2061619888
NM_000092.5(COL4A4):c.3751C>A (p.Pro1251Thr)
NM_000092.5(COL4A4):c.3754A>G (p.Lys1252Glu)
NM_000092.5(COL4A4):c.3773G>A (p.Gly1258Asp) rs1968521797
NM_000092.5(COL4A4):c.3781G>A (p.Gly1261Arg)
NM_000092.5(COL4A4):c.3796C>T (p.Pro1266Ser) rs267599226
NM_000092.5(COL4A4):c.3816A>T (p.Arg1272Ser)
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp) rs777134408
NM_000092.5(COL4A4):c.3848G>T (p.Ser1283Ile)
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.3961G>C (p.Asp1321His) rs1326584789
NM_000092.5(COL4A4):c.3974G>A (p.Gly1325Glu)
NM_000092.5(COL4A4):c.3986T>C (p.Phe1329Ser)
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser)
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val)
NM_000092.5(COL4A4):c.4051C>G (p.Pro1351Ala)
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4091-12T>C
NM_000092.5(COL4A4):c.4096C>T (p.Pro1366Ser)
NM_000092.5(COL4A4):c.409G>A (p.Gly137Ser)
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp)
NM_000092.5(COL4A4):c.4142T>C (p.Leu1381Pro)
NM_000092.5(COL4A4):c.4153C>T (p.Pro1385Ser) rs2149853379
NM_000092.5(COL4A4):c.4163G>A (p.Arg1388Lys)
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg)
NM_000092.5(COL4A4):c.4216+4T>C
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu)
NM_000092.5(COL4A4):c.4238T>G (p.Leu1413Arg)
NM_000092.5(COL4A4):c.4330C>A (p.Pro1444Thr)
NM_000092.5(COL4A4):c.4333+6G>T
NM_000092.5(COL4A4):c.4346C>G (p.Pro1449Arg)
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn) rs72969704
NM_000092.5(COL4A4):c.4358C>T (p.Pro1453Leu) rs2149745307
NM_000092.5(COL4A4):c.4372T>C (p.Phe1458Leu)
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val)
NM_000092.5(COL4A4):c.4396T>C (p.Phe1466Leu)
NM_000092.5(COL4A4):c.4415G>A (p.Ser1472Asn) rs2149744588
NM_000092.5(COL4A4):c.443C>G (p.Pro148Arg)
NM_000092.5(COL4A4):c.443C>T (p.Pro148Leu)
NM_000092.5(COL4A4):c.4498G>A (p.Glu1500Lys)
NM_000092.5(COL4A4):c.4519C>T (p.Leu1507Phe)
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4544C>T (p.Pro1515Leu)
NM_000092.5(COL4A4):c.4550T>C (p.Phe1517Ser) rs1575697378
NM_000092.5(COL4A4):c.4550T>G (p.Phe1517Cys)
NM_000092.5(COL4A4):c.4555A>C (p.Thr1519Pro)
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)
NM_000092.5(COL4A4):c.4607G>T (p.Arg1536Ile)
NM_000092.5(COL4A4):c.4636G>A (p.Ala1546Thr)
NM_000092.5(COL4A4):c.4642C>T (p.Pro1548Ser)
NM_000092.5(COL4A4):c.4664C>T (p.Ser1555Phe) rs2149721513
NM_000092.5(COL4A4):c.4688T>G (p.Val1563Gly) rs2149721235
NM_000092.5(COL4A4):c.4724C>T (p.Ala1575Val)
NM_000092.5(COL4A4):c.4741_4744delinsAAGA (p.Gln1581_Asp1582delinsLysAsn) rs2149720398
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.4762T>C (p.Cys1588Arg)
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr)
NM_000092.5(COL4A4):c.4764T>G (p.Cys1588Trp)
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys)
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg) rs200799557
NM_000092.5(COL4A4):c.4784T>C (p.Leu1595Pro)
NM_000092.5(COL4A4):c.4809+6T>A rs1469771734
NM_000092.5(COL4A4):c.4840C>A (p.Gln1614Lys)
NM_000092.5(COL4A4):c.490-5T>G
NM_000092.5(COL4A4):c.4916G>A (p.Gly1639Glu)
NM_000092.5(COL4A4):c.494A>C (p.His165Pro) rs1395435419
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer) rs1308677161
NM_000092.5(COL4A4):c.5030G>A (p.Arg1677His)
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg)
NM_000092.5(COL4A4):c.517G>A (p.Gly173Arg)
NM_000092.5(COL4A4):c.558+5G>A
NM_000092.5(COL4A4):c.559-9T>G rs1393612363
NM_000092.5(COL4A4):c.559G>A (p.Gly187Arg)
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser) rs1039244540
NM_000092.5(COL4A4):c.596G>C (p.Gly199Ala)
NM_000092.5(COL4A4):c.619G>A (p.Ala207Thr)
NM_000092.5(COL4A4):c.635A>T (p.Tyr212Phe)
NM_000092.5(COL4A4):c.645G>C (p.Glu215Asp)
NM_000092.5(COL4A4):c.674C>G (p.Pro225Arg)
NM_000092.5(COL4A4):c.679C>T (p.Arg227Cys)
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.680G>C (p.Arg227Pro)
NM_000092.5(COL4A4):c.72-3T>C
NM_000092.5(COL4A4):c.735+4A>G
NM_000092.5(COL4A4):c.735G>C (p.Pro245=) rs923865420
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala) rs1559631986
NM_000092.5(COL4A4):c.73T>G (p.Ser25Ala) rs2125348343
NM_000092.5(COL4A4):c.764G>A (p.Gly255Glu) rs2060673481
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.818G>T (p.Gly273Val)
NM_000092.5(COL4A4):c.819_821dup (p.Ile274_Lys275insIle)
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.841G>T (p.Val281Phe)
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu) rs2060621902
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
NM_000092.5(COL4A4):c.870+3A>G
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000092.5(COL4A4):c.871-2dup
NM_000092.5(COL4A4):c.879T>A (p.Ser293=) rs2150788345
NM_000092.5(COL4A4):c.881G>T (p.Gly294Val)
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
NM_000092.5(COL4A4):c.901A>G (p.Lys301Glu)
NM_000092.5(COL4A4):c.904G>T (p.Gly302Cys) rs2150787894
NM_000092.5(COL4A4):c.905G>C (p.Gly302Ala)
NM_000092.5(COL4A4):c.905G>T (p.Gly302Val) rs777687210
NM_000092.5(COL4A4):c.913G>A (p.Gly305Arg) rs1045939403
NM_000092.5(COL4A4):c.930+4A>G rs2150787463
NM_000092.5(COL4A4):c.958G>A (p.Gly320Ser)
NM_000092.5(COL4A4):c.962T>C (p.Phe321Ser)
NM_000092.5(COL4A4):c.976-3T>C
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)

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