ClinVar Miner

List of variants in gene COL4A3, MFF-DT studied for Alport syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 334
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.*2194A>C rs7567291 0.99998
NM_000091.5(COL4A3):c.*2059C>G rs4290648 0.93201
NM_000091.5(COL4A3):c.*1239C>G rs10188531 0.93197
NM_000091.5(COL4A3):c.*893C>T rs7587228 0.86904
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.*315A>C rs2070735 0.77289
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000091.5(COL4A3):c.*2742C>T rs59257065 0.31211
NM_000091.5(COL4A3):c.*2652G>A rs57817160 0.30825
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_000091.5(COL4A3):c.*981C>T rs1134745 0.20446
NM_000091.5(COL4A3):c.*2452T>C rs4470338 0.20330
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.*595A>T rs56123646 0.09853
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
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.*286C>T rs6436677 0.06341
NM_000091.5(COL4A3):c.*1663G>C rs56030607 0.06118
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000091.5(COL4A3):c.3419-14T>G rs116133488 0.06066
NM_000091.5(COL4A3):c.*1681A>G rs78758928 0.04750
NM_000091.5(COL4A3):c.*589C>T rs55698424 0.02952
NM_000091.5(COL4A3):c.766-13G>A rs77431913 0.02920
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_000091.5(COL4A3):c.1505-11T>C rs115757151 0.00959
NM_000091.5(COL4A3):c.*1360T>A rs116377856 0.00953
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_000091.5(COL4A3):c.*1869C>A rs77842807 0.00730
NM_000091.5(COL4A3):c.*177A>G rs139638980 0.00688
NM_000091.5(COL4A3):c.*969G>A rs188150740 0.00620
NM_000091.5(COL4A3):c.*2145A>C rs115394347 0.00614
NM_000091.5(COL4A3):c.*2182C>T rs114535536 0.00613
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=) rs145833114 0.00584
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_000091.5(COL4A3):c.*811A>C rs116568659 0.00504
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=) rs113401495 0.00364
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000091.5(COL4A3):c.3566-10T>C rs114719458 0.00331
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe) rs192027050 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408 0.00233
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_000091.5(COL4A3):c.*647T>G rs183552783 0.00206
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000091.5(COL4A3):c.*1322T>A rs115338903 0.00158
NM_000091.5(COL4A3):c.4756-13A>T rs190701197 0.00135
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) rs201607115 0.00132
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109 0.00078
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000091.5(COL4A3):c.*1764A>G rs577379452 0.00071
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000091.5(COL4A3):c.2489-8G>A rs201846272 0.00061
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260 0.00048
NM_000091.5(COL4A3):c.829-15C>T rs201021733 0.00046
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.1505-12G>A rs114658110 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.*2228T>C rs367785196 0.00034
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374 0.00025
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) rs189574905 0.00021
NM_000091.5(COL4A3):c.1362A>T (p.Pro454=) rs377373374 0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.*406G>A rs759265728 0.00014
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705 0.00011
NM_000091.5(COL4A3):c.3419-8T>G rs754483986 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000091.5(COL4A3):c.3882+10G>A rs78980950 0.00011
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp) rs759074046 0.00011
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650 0.00009
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) rs144036466 0.00009
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000091.5(COL4A3):c.*1639G>A rs950432432 0.00007
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) rs369567469 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000091.5(COL4A3):c.*1000C>T rs770149608 0.00006
NM_000091.5(COL4A3):c.*1645del rs886055747 0.00006
NM_000091.5(COL4A3):c.*2180C>T rs886055749 0.00006
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.1576-6C>T rs202210023 0.00006
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser) rs767174856 0.00006
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=) rs200125890 0.00006
NM_000091.5(COL4A3):c.3565+9T>G rs750406964 0.00006
NM_000091.5(COL4A3):c.4253-14T>C rs747386514 0.00006
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu) rs772037798 0.00005
NM_000091.5(COL4A3):c.1928-4T>C rs376327706 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000091.5(COL4A3):c.*1612A>G rs760687020 0.00004
NM_000091.5(COL4A3):c.*2565T>C rs1261742464 0.00004
NM_000091.5(COL4A3):c.*261A>T rs1019244359 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000091.5(COL4A3):c.2125+13T>C rs777353565 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=) rs764663555 0.00004
NM_000091.5(COL4A3):c.516C>T (p.Asp172=) rs759455097 0.00004
NM_000091.5(COL4A3):c.717A>G (p.Gly239=) rs377503376 0.00004
NM_000091.5(COL4A3):c.870T>C (p.Pro290=) rs373130348 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000091.5(COL4A3):c.*287G>A rs573135458 0.00003
NM_000091.5(COL4A3):c.*660T>C rs557009121 0.00003
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=) rs748691382 0.00003
NM_000091.5(COL4A3):c.1798G>A (p.Asp600Asn) rs781224368 0.00003
NM_000091.5(COL4A3):c.3588C>G (p.Ala1196=) rs767337248 0.00003
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile) rs574102153 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr) rs772407219 0.00003
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00002
NM_000091.5(COL4A3):c.2747-4T>C rs772016854 0.00002
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=) rs758181560 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.468+9T>C rs754471166 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000091.5(COL4A3):c.*1238T>C rs1423033002 0.00001
NM_000091.5(COL4A3):c.*1340T>C rs929078167 0.00001
NM_000091.5(COL4A3):c.*1634G>C rs376587950 0.00001
NM_000091.5(COL4A3):c.*2308T>C rs886055751 0.00001
NM_000091.5(COL4A3):c.*2795T>C rs906294246 0.00001
NM_000091.5(COL4A3):c.*387A>C rs971677230 0.00001
NM_000091.5(COL4A3):c.*501T>C rs1210086779 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1423C>G (p.Leu475Val) rs886055738 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.159T>C (p.Phe53=) rs1217941846 0.00001
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=) rs762241502 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp) rs752819997 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.2224-2A>G rs1246102682 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.2656+12T>A rs748254625 0.00001
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp) rs1414411811 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.2750G>A (p.Ser917Asn) rs773119622 0.00001
NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala) rs780287240 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.315T>C (p.Pro105=) rs371460434 0.00001
NM_000091.5(COL4A3):c.3210+8G>A rs545181831 0.00001
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg) rs769395979 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.3516G>A (p.Thr1172=) rs758035504 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 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.388-15T>C rs762513527 0.00001
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742 0.00001
NM_000091.5(COL4A3):c.4153+10T>C rs865866667 0.00001
NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=) rs778174094 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.4643G>A (p.Cys1548Tyr) rs745466617 0.00001
NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr) rs774089446 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 0.00001
NM_000091.5(COL4A3):c.504T>C (p.Asp168=) rs748974369 0.00001
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg) rs759869958 0.00001
NM_000091.5(COL4A3):c.828+9T>C rs2069991819 0.00001
NM_000091.5(COL4A3):c.*1032G>A rs886055744
NM_000091.5(COL4A3):c.*1069_*1070del rs11297279
NM_000091.5(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.5(COL4A3):c.*1070del rs11297279
NM_000091.5(COL4A3):c.*1070dup rs11297279
NM_000091.5(COL4A3):c.*1071G>A rs866036167
NM_000091.5(COL4A3):c.*1165G>A rs28554165
NM_000091.5(COL4A3):c.*1739C>T rs750139996
NM_000091.5(COL4A3):c.*1918T>C rs767668198
NM_000091.5(COL4A3):c.*2048C>G rs886055748
NM_000091.5(COL4A3):c.*2087A>T rs2073823186
NM_000091.5(COL4A3):c.*2266A>G rs2073829100
NM_000091.5(COL4A3):c.*2272T>C rs886055750
NM_000091.5(COL4A3):c.*2834ATA[1] rs137947510
NM_000091.5(COL4A3):c.*2836A>G rs1030825188
NM_000091.5(COL4A3):c.*2853A>C rs768580153
NM_000091.5(COL4A3):c.*454G>T rs2073771672
NM_000091.5(COL4A3):c.*459T>C rs1041353391
NM_000091.5(COL4A3):c.*656T>A rs538761832
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile) rs2070429834
NM_000091.5(COL4A3):c.1103G>A (p.Arg368His)
NM_000091.5(COL4A3):c.1114+2T>C rs956551930
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu) rs760049264
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.1150+4T>A rs200061201
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=) rs2070734491
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg) rs2070734616
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp) rs2070738434
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
NM_000091.5(COL4A3):c.1309C>T (p.Pro437Ser) rs763403545
NM_000091.5(COL4A3):c.1368T>C (p.Tyr456=) rs766591906
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000091.5(COL4A3):c.1408+1G>C
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys) rs1434266764
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg) rs2071142257
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala) rs2071196765
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys) rs2125991456
NM_000091.5(COL4A3):c.1787G>T (p.Gly596Val)
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser) rs2071335952
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1887G>A (p.Thr629=) rs201109911
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.5(COL4A3):c.1927+1G>A
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=) rs1574764067
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs) rs758444182
NM_000091.5(COL4A3):c.2021-9G>C rs773021303
NM_000091.5(COL4A3):c.2044T>G (p.Cys682Gly)
NM_000091.5(COL4A3):c.2125G>T (p.Gly709Ter)
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=) rs1238746236
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val) rs2071832975
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000091.5(COL4A3):c.2184G>A (p.Glu728=) rs779837475
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=) rs1251724413
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)
NM_000091.5(COL4A3):c.226G>A (p.Gly76Arg)
NM_000091.5(COL4A3):c.2294G>A (p.Gly765Glu)
NM_000091.5(COL4A3):c.2375-2A>G rs2071916145
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu) rs1559895213
NM_000091.5(COL4A3):c.2470G>A (p.Gly824Arg)
NM_000091.5(COL4A3):c.2504C>G (p.Thr835Arg)
NM_000091.5(COL4A3):c.2657G>A (p.Gly886Asp)
NM_000091.5(COL4A3):c.2747-11C>A rs886055739
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.2881+1G>A rs1559899827
NM_000091.5(COL4A3):c.2881+6G>T rs886055740
NM_000091.5(COL4A3):c.2961_2978del (p.Ala990_Pro995del)
NM_000091.5(COL4A3):c.2980+1G>A
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs) rs755109848
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu) rs2072647561
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.3211-13G>A rs200555661
NM_000091.5(COL4A3):c.3283G>A (p.Gly1095Arg)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.3518-15G>C rs2072979600
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000091.5(COL4A3):c.3655G>T (p.Gly1219Cys)
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=) rs2073099504
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val) rs2073148750
NM_000091.5(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys)
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg) rs757747350
NM_000091.5(COL4A3):c.4027+11G>T rs191002419
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4226_4227delinsAA (p.Gly1409Glu)
NM_000091.5(COL4A3):c.4253-1G>A
NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr) rs2073566607
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4349G>A (p.Arg1450Gln)
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg) rs1574840156
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr) rs1195144676
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000091.5(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu) rs2073645172
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr) rs2073712176
NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser) rs760284809
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs) rs2073752422
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.522dup (p.Leu175fs) rs761358728
NM_000091.5(COL4A3):c.567T>A (p.Gly189=) rs2125924539
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile) rs371173786
NM_000091.5(COL4A3):c.610-11G>A rs566045388
NM_000091.5(COL4A3):c.610-1G>C
NM_000091.5(COL4A3):c.619G>C (p.Gly207Arg)
NM_000091.5(COL4A3):c.637G>C (p.Gly213Arg)
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.689G>A (p.Gly230Asp)
NM_000091.5(COL4A3):c.713del (p.Pro238fs) rs988439345
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr) rs2070037501
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser) rs765318949
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410

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