ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 356
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
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.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) rs200107989 0.00044
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile) rs200044988 0.00026
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu) rs201198284 0.00024
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.532G>A (p.Ala178Thr) rs188324379 0.00023
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474 0.00016
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705 0.00011
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 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.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn) rs376762135 0.00009
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile) rs374427586 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.3395C>A (p.Pro1132His) rs893516153 0.00007
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu) rs368480491 0.00007
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser) rs745472969 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.1075C>G (p.Pro359Ala) rs757538073 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn) rs972796332 0.00005
NM_000091.5(COL4A3):c.4034G>A (p.Arg1345His) rs553185617 0.00005
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.2767G>A (p.Val923Ile) rs917860017 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu) rs1178734829 0.00004
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.672A>G (p.Gly224=) rs375059614 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.1798G>A (p.Asp600Asn) rs781224368 0.00003
NM_000091.5(COL4A3):c.3337+6G>C rs1008678288 0.00003
NM_000091.5(COL4A3):c.3986C>G (p.Ser1329Cys) rs1390815554 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.756T>A (p.Asp252Glu) rs1412919917 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.1396G>A (p.Asp466Asn) rs541071302 0.00002
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552 0.00002
NM_000091.5(COL4A3):c.2005C>T (p.Pro669Ser) rs760523928 0.00002
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu) rs759579342 0.00002
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys) rs776919202 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser) rs1041119510 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp) rs752819997 0.00001
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=) rs758586879 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.2012G>A (p.Gly671Asp) rs1085307955 0.00001
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr) rs754146345 0.00001
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr) rs572059687 0.00001
NM_000091.5(COL4A3):c.2531C>T (p.Pro844Leu) rs1385197225 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.3252A>T (p.Glu1084Asp) rs766420056 0.00001
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg) rs769395979 0.00001
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=) rs770449474 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3516G>A (p.Thr1172=) rs758035504 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 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.4781C>T (p.Thr1594Ile) rs760284809 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg) rs759869958 0.00001
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu) rs2069719935 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000091.5(COL4A3):c.782A>G (p.Lys261Arg) rs769837137 0.00001
NM_000091.5(COL4A3):c.803G>A (p.Gly268Asp) rs1448108531 0.00001
NM_000091.5(COL4A3):c.1006G>A (p.Gly336Ser)
NM_000091.5(COL4A3):c.1029A>C (p.Pro343=)
NM_000091.5(COL4A3):c.1030A>T (p.Thr344Ser)
NM_000091.5(COL4A3):c.1034A>T (p.Glu345Val) rs951964916
NM_000091.5(COL4A3):c.1099G>T (p.Ala367Ser)
NM_000091.5(COL4A3):c.1102C>T (p.Arg368Cys)
NM_000091.5(COL4A3):c.1114G>A (p.Gly372Ser) rs1275209481
NM_000091.5(COL4A3):c.1115-11T>C
NM_000091.5(COL4A3):c.1156T>C (p.Ser386Pro)
NM_000091.5(COL4A3):c.1166G>C (p.Gly389Ala)
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg) rs2070734616
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1193G>A (p.Gly398Asp) rs2070735812
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg)
NM_000091.5(COL4A3):c.1253G>A (p.Gly418Glu)
NM_000091.5(COL4A3):c.1307G>A (p.Gly436Glu)
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.1316-3T>C
NM_000091.5(COL4A3):c.1325T>C (p.Val442Ala) rs2125981003
NM_000091.5(COL4A3):c.1331G>A (p.Arg444His)
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg)
NM_000091.5(COL4A3):c.1350T>A (p.Asp450Glu) rs2125981065
NM_000091.5(COL4A3):c.1350_1352delinsACG (p.Asp450_His451delinsGluArg) rs1559881247
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000091.5(COL4A3):c.1393G>A (p.Val465Ile)
NM_000091.5(COL4A3):c.1409-11T>A
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1418G>A (p.Gly473Asp)
NM_000091.5(COL4A3):c.1424T>C (p.Leu475Pro)
NM_000091.5(COL4A3):c.1447C>T (p.Pro483Ser)
NM_000091.5(COL4A3):c.145G>C (p.Gly49Arg)
NM_000091.5(COL4A3):c.1527G>C (p.Leu509Phe) rs2125989308
NM_000091.5(COL4A3):c.1576-9C>G
NM_000091.5(COL4A3):c.1583C>T (p.Pro528Leu)
NM_000091.5(COL4A3):c.161C>T (p.Pro54Leu)
NM_000091.5(COL4A3):c.1652G>A (p.Gly551Asp)
NM_000091.5(COL4A3):c.1667C>G (p.Pro556Arg)
NM_000091.5(COL4A3):c.1667C>T (p.Pro556Leu)
NM_000091.5(COL4A3):c.1706G>A (p.Gly569Glu) rs2071195158
NM_000091.5(COL4A3):c.170C>A (p.Pro57His)
NM_000091.5(COL4A3):c.1752C>T (p.Gly584=)
NM_000091.5(COL4A3):c.1759-11T>A rs1433223189
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala) rs2071331630
NM_000091.5(COL4A3):c.1813G>T (p.Gly605Trp)
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1832G>A (p.Gly611Glu) rs2125996366
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu) rs2071336508
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu) rs2125996486
NM_000091.5(COL4A3):c.1883G>A (p.Gly628Asp) rs2125996545
NM_000091.5(COL4A3):c.1892G>A (p.Gly631Glu) rs1315862965
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.5(COL4A3):c.1935G>A (p.Arg645=)
NM_000091.5(COL4A3):c.1937G>A (p.Gly646Glu) rs2106124459
NM_000091.5(COL4A3):c.1957C>A (p.Pro653Thr) rs2071566860
NM_000091.5(COL4A3):c.1969C>T (p.Pro657Ser)
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu) rs2106124698
NM_000091.5(COL4A3):c.1972C>G (p.Pro658Ala) rs749751219
NM_000091.5(COL4A3):c.1972C>T (p.Pro658Ser) rs749751219
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu) rs2071568063
NM_000091.5(COL4A3):c.1977A>G (p.Gly659=)
NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)
NM_000091.5(COL4A3):c.1990C>T (p.Pro664Ser)
NM_000091.5(COL4A3):c.2021-3A>C
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.2066G>A (p.Gly689Glu) rs2071652371
NM_000091.5(COL4A3):c.2075G>C (p.Gly692Ala)
NM_000091.5(COL4A3):c.2094A>T (p.Gly698=)
NM_000091.5(COL4A3):c.2134G>A (p.Gly712Ser)
NM_000091.5(COL4A3):c.2134G>C (p.Gly712Arg)
NM_000091.5(COL4A3):c.2156C>T (p.Ser719Leu)
NM_000091.5(COL4A3):c.2170G>A (p.Gly724Arg)
NM_000091.5(COL4A3):c.2179G>A (p.Gly727Arg)
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu) rs2106147306
NM_000091.5(COL4A3):c.2185C>A (p.Pro729Thr) rs2071837772
NM_000091.5(COL4A3):c.2203C>T (p.Pro735Ser)
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) rs773317939
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=) rs1574774667
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg) rs2071886531
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr)
NM_000091.5(COL4A3):c.232A>C (p.Lys78Gln)
NM_000091.5(COL4A3):c.232A>G (p.Lys78Glu) rs760637313
NM_000091.5(COL4A3):c.2350A>G (p.Asn784Asp)
NM_000091.5(COL4A3):c.2355A>C (p.Glu785Asp) rs2106152150
NM_000091.5(COL4A3):c.2374+5A>C
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu) rs1559895213
NM_000091.5(COL4A3):c.2383G>C (p.Gly795Arg) rs2071916580
NM_000091.5(COL4A3):c.2411G>A (p.Gly804Glu)
NM_000091.5(COL4A3):c.2411G>T (p.Gly804Val) rs2106154204
NM_000091.5(COL4A3):c.2420G>A (p.Gly807Glu)
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
NM_000091.5(COL4A3):c.2434G>C (p.Gly812Arg)
NM_000091.5(COL4A3):c.2444G>A (p.Gly815Glu) rs2106154480
NM_000091.5(COL4A3):c.2471G>A (p.Gly824Glu)
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.2525G>A (p.Gly842Glu)
NM_000091.5(COL4A3):c.2548G>A (p.Gly850Arg)
NM_000091.5(COL4A3):c.2562A>C (p.Glu854Asp)
NM_000091.5(COL4A3):c.2564C>G (p.Thr855Ser)
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
NM_000091.5(COL4A3):c.2572C>T (p.Pro858Ser)
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg) rs2106164384
NM_000091.5(COL4A3):c.2618G>A (p.Arg873Lys)
NM_000091.5(COL4A3):c.2620G>A (p.Gly874Arg) rs2106164540
NM_000091.5(COL4A3):c.277A>T (p.Arg93Trp)
NM_000091.5(COL4A3):c.2786C>A (p.Thr929Asn)
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
NM_000091.5(COL4A3):c.2805A>C (p.Glu935Asp) rs2106174959
NM_000091.5(COL4A3):c.283A>C (p.Ile95Leu)
NM_000091.5(COL4A3):c.2843C>T (p.Ser948Phe)
NM_000091.5(COL4A3):c.287G>A (p.Ser96Asn) rs2125906629
NM_000091.5(COL4A3):c.288T>A (p.Ser96Arg)
NM_000091.5(COL4A3):c.2923C>G (p.Pro975Ala)
NM_000091.5(COL4A3):c.2930T>G (p.Met977Arg)
NM_000091.5(COL4A3):c.293T>G (p.Leu98Trp) rs768983795
NM_000091.5(COL4A3):c.295C>G (p.Pro99Ala) rs774434848
NM_000091.5(COL4A3):c.2966C>A (p.Pro989Gln)
NM_000091.5(COL4A3):c.2972G>T (p.Gly991Val)
NM_000091.5(COL4A3):c.2981-10T>A rs2106205916
NM_000091.5(COL4A3):c.2981G>T (p.Gly994Val) rs1574803132
NM_000091.5(COL4A3):c.2992G>T (p.Asp998Tyr) rs2106206059
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala) rs1204230457
NM_000091.5(COL4A3):c.3040C>A (p.Pro1014Thr)
NM_000091.5(COL4A3):c.3040C>G (p.Pro1014Ala)
NM_000091.5(COL4A3):c.3069A>T (p.Pro1023=)
NM_000091.5(COL4A3):c.3070+4A>G
NM_000091.5(COL4A3):c.3100T>A (p.Phe1034Ile)
NM_000091.5(COL4A3):c.3115G>C (p.Gly1039Arg) rs2072647370
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu) rs2072647561
NM_000091.5(COL4A3):c.3151G>A (p.Gly1051Arg)
NM_000091.5(COL4A3):c.3156_3164del (p.Asp1052_Gly1054del) rs2106210740
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.3209C>T (p.Thr1070Met)
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly) rs766520935
NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val) rs2072858880
NM_000091.5(COL4A3):c.3262C>A (p.Pro1088Thr) rs2072859830
NM_000091.5(COL4A3):c.3266G>T (p.Gly1089Val)
NM_000091.5(COL4A3):c.3282_3302dup (p.Gly1101_Ala1102insGlyProAlaGlyProGluGly)
NM_000091.5(COL4A3):c.3290C>G (p.Ala1097Gly)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3328G>C (p.Gly1110Arg)
NM_000091.5(COL4A3):c.3331C>T (p.Leu1111Phe)
NM_000091.5(COL4A3):c.3337+6G>T
NM_000091.5(COL4A3):c.335G>A (p.Gly112Asp)
NM_000091.5(COL4A3):c.3374G>A (p.Gly1125Glu)
NM_000091.5(COL4A3):c.3392G>A (p.Gly1131Asp)
NM_000091.5(COL4A3):c.3418+6A>G
NM_000091.5(COL4A3):c.3419G>A (p.Gly1140Asp)
NM_000091.5(COL4A3):c.3449C>T (p.Pro1150Leu)
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp)
NM_000091.5(COL4A3):c.3471A>C (p.Gln1157His) rs761971869
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp)
NM_000091.5(COL4A3):c.3515C>T (p.Thr1172Met)
NM_000091.5(COL4A3):c.353G>A (p.Gly118Glu)
NM_000091.5(COL4A3):c.3546A>T (p.Arg1182Ser)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3548G>A (p.Gly1183Glu)
NM_000091.5(COL4A3):c.3554C>G (p.Pro1185Arg)
NM_000091.5(COL4A3):c.3595T>C (p.Phe1199Leu)
NM_000091.5(COL4A3):c.3607C>T (p.Pro1203Ser)
NM_000091.5(COL4A3):c.3610G>A (p.Gly1204Ser) rs2106246879
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.5(COL4A3):c.362G>T (p.Gly121Val) rs1230199187
NM_000091.5(COL4A3):c.3656G>T (p.Gly1219Val)
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.3679C>G (p.Pro1227Ala)
NM_000091.5(COL4A3):c.3704C>G (p.Pro1235Arg)
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg) rs2106247498
NM_000091.5(COL4A3):c.3716G>A (p.Gly1239Glu) rs2106247510
NM_000091.5(COL4A3):c.3718A>T (p.Asn1240Tyr)
NM_000091.5(COL4A3):c.371G>T (p.Gly124Val) rs748188535
NM_000091.5(COL4A3):c.3733G>A (p.Gly1245Ser) rs2106247545
NM_000091.5(COL4A3):c.3734G>A (p.Gly1245Asp) rs1275973987
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.3864G>C (p.Met1288Ile)
NM_000091.5(COL4A3):c.3878G>A (p.Arg1293His)
NM_000091.5(COL4A3):c.388-8T>A
NM_000091.5(COL4A3):c.3925C>T (p.Pro1309Ser)
NM_000091.5(COL4A3):c.3926C>T (p.Pro1309Leu)
NM_000091.5(COL4A3):c.3948C>T (p.Gly1316=)
NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.5(COL4A3):c.3983G>T (p.Gly1328Val)
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
NM_000091.5(COL4A3):c.4004C>A (p.Pro1335Gln)
NM_000091.5(COL4A3):c.4027G>A (p.Gly1343Ser)
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4049C>T (p.Thr1350Ile) rs2106270706
NM_000091.5(COL4A3):c.4057A>G (p.Ile1353Val)
NM_000091.5(COL4A3):c.4064C>T (p.Ser1355Phe)
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)
NM_000091.5(COL4A3):c.4208G>A (p.Gly1403Glu)
NM_000091.5(COL4A3):c.4226G>A (p.Gly1409Asp)
NM_000091.5(COL4A3):c.4226_4227delinsAA (p.Gly1409Glu)
NM_000091.5(COL4A3):c.4227C>T (p.Gly1409=)
NM_000091.5(COL4A3):c.4235G>C (p.Gly1412Ala) rs2073446714
NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr) rs2073566607
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del)
NM_000091.5(COL4A3):c.4279G>C (p.Gly1427Arg) rs2106283874
NM_000091.5(COL4A3):c.4316C>G (p.Ala1439Gly)
NM_000091.5(COL4A3):c.4324A>G (p.Thr1442Ala)
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.4381C>A (p.Pro1461Thr) rs767367726
NM_000091.5(COL4A3):c.4403A>T (p.Tyr1468Phe) rs2106284497
NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)
NM_000091.5(COL4A3):c.4459C>A (p.Leu1487Ile)
NM_000091.5(COL4A3):c.4463-18dup
NM_000091.5(COL4A3):c.4501C>T (p.Pro1501Ser) rs1195144676
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4552G>C (p.Asp1518His) rs1559923319
NM_000091.5(COL4A3):c.4586T>C (p.Met1529Thr)
NM_000091.5(COL4A3):c.4661C>G (p.Pro1554Arg) rs1221621618
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)
NM_000091.5(COL4A3):c.4777G>A (p.Gly1593Ser)
NM_000091.5(COL4A3):c.4778G>T (p.Gly1593Val)
NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser) rs760284809
NM_000091.5(COL4A3):c.4812C>G (p.Cys1604Trp) rs1064796314
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.5(COL4A3):c.4925T>C (p.Phe1642Ser) rs2106295148
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys) rs2106295155
NM_000091.5(COL4A3):c.4929A>T (p.Arg1643Ser)
NM_000091.5(COL4A3):c.4985G>A (p.Cys1662Tyr) rs1339780318
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.565G>C (p.Gly189Arg) rs1574690720
NM_000091.5(COL4A3):c.632C>G (p.Pro211Arg) rs2125925060
NM_000091.5(COL4A3):c.646-13T>G
NM_000091.5(COL4A3):c.646G>A (p.Gly216Ser)
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys) rs1169752185
NM_000091.5(COL4A3):c.686G>A (p.Arg229Gln)
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg) rs2069931154
NM_000091.5(COL4A3):c.712C>T (p.Pro238Ser)
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala) rs1574699782
NM_000091.5(COL4A3):c.734T>C (p.Ile245Thr)
NM_000091.5(COL4A3):c.765G>C (p.Thr255=)
NM_000091.5(COL4A3):c.789C>G (p.Asp263Glu) rs779821655
NM_000091.5(COL4A3):c.794G>T (p.Gly265Val)
NM_000091.5(COL4A3):c.804C>T (p.Gly268=)
NM_000091.5(COL4A3):c.815C>T (p.Pro272Leu)
NM_000091.5(COL4A3):c.824C>T (p.Pro275Leu)
NM_000091.5(COL4A3):c.863G>T (p.Gly288Val) rs2070037317
NM_000091.5(COL4A3):c.881G>A (p.Gly294Asp) rs1553753137
NM_000091.5(COL4A3):c.884T>G (p.Leu295Arg) rs2125936511
NM_000091.5(COL4A3):c.889-3T>A
NM_000091.5(COL4A3):c.933+4T>C
NM_000091.5(COL4A3):c.979G>T (p.Gly327Cys)
NM_000091.5(COL4A3):c.988G>C (p.Gly330Arg)
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520

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