ClinVar Miner

List of variants in gene COL4A5 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 582
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) rs2067110688 0.00003
NM_033380.3(COL4A5):c.231+2T>C rs763538451 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.1340-1G>A rs753437190 0.00001
NM_033380.3(COL4A5):c.2227G>A (p.Gly743Ser) rs749817240 0.00001
NM_033380.3(COL4A5):c.2510-2A>G rs760109866 0.00001
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala) rs1569488381 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) rs767619131 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.674C>T (p.Pro225Leu) rs1196820381 0.00001
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
NC_000023.10:g.(?_107782956)_(107852872_?)dup
NC_000023.10:g.(?_107782956)_(107898707_?)dup
NC_000023.10:g.(?_107819120)_(107820077_?)del
NC_000023.10:g.(?_107823743)_(107925138_?)dup
NM_000495.4(COL4A5):c.1168delG
NM_000495.4(COL4A5):c.142_143dupGG
NM_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1031_1032+2del rs2066302717
NM_033380.3(COL4A5):c.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033380.3(COL4A5):c.1033-2A>G rs2147787964
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1075G>C (p.Gly359Arg)
NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter) rs1569492122
NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser) rs2147788213
NM_033380.3(COL4A5):c.1103G>A (p.Gly368Glu) rs752609517
NM_033380.3(COL4A5):c.1111G>A (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.1111G>C (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) rs1603286154
NM_033380.3(COL4A5):c.1138G>C (p.Gly380Arg) rs2066342908
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg) rs1569492161
NM_033380.3(COL4A5):c.1190G>A (p.Gly397Asp)
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter) rs2066424636
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu) rs104886107
NM_033380.3(COL4A5):c.1208G>A (p.Gly403Glu)
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) rs2066425550
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala) rs104886101
NM_033380.3(COL4A5):c.1234G>A (p.Gly412Arg) rs2066425897
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg) rs2066425897
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu) rs2066428351
NM_033380.3(COL4A5):c.1304G>A (p.Gly435Glu)
NM_033380.3(COL4A5):c.1304_1305delinsTT (p.Gly435Val) rs2147797124
NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg) rs2147797143
NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs) rs2147797210
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.1339+2T>A
NM_033380.3(COL4A5):c.133G>A (p.Gly45Arg)
NM_033380.3(COL4A5):c.134G>A (p.Gly45Glu)
NM_033380.3(COL4A5):c.1369G>A (p.Gly457Ser) rs2147798001
NM_033380.3(COL4A5):c.1370G>A (p.Gly457Asp) rs2147798012
NM_033380.3(COL4A5):c.1377_1378delinsGA (p.Gly460Arg)
NM_033380.3(COL4A5):c.1378G>C (p.Gly460Arg) rs2066435557
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter) rs2066435557
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_033380.3(COL4A5):c.1395del (p.Gly466fs)
NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu) rs104886114
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1424-2A>G rs759179999
NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter)
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp) rs104886118
NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs)
NM_033380.3(COL4A5):c.1490G>A (p.Gly497Asp) rs2147806122
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_033380.3(COL4A5):c.151G>A (p.Gly51Arg) rs2147722151
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1532del (p.Pro511fs) rs2066528020
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) rs2147809070
NM_033380.3(COL4A5):c.1571G>A (p.Gly524Asp) rs104886119
NM_033380.3(COL4A5):c.1582_1583delinsA (p.Leu528fs)
NM_033380.3(COL4A5):c.1584_1587+6del
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1588-2A>T
NM_033380.3(COL4A5):c.1591_1599del (p.Ile531_Gly533del)
NM_033380.3(COL4A5):c.1606G>A (p.Gly536Ser)
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
NM_033380.3(COL4A5):c.161G>T (p.Gly54Val) rs104886043
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)
NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp)
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1681G>A (p.Gly561Arg) rs104886136
NM_033380.3(COL4A5):c.1682G>A (p.Gly561Glu)
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg) rs281874674
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) rs1603290169
NM_033380.3(COL4A5):c.1717G>A (p.Gly573Ser)
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu) rs104886130
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.1762G>A (p.Gly588Ser)
NM_033380.3(COL4A5):c.1763G>A (p.Gly588Asp)
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_033380.3(COL4A5):c.1777_1779+5del rs2147810566
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.178G>A (p.Gly60Arg)
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val) rs1569494281
NM_033380.3(COL4A5):c.1817G>T (p.Gly606Val)
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala) rs104886140
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter) rs2065868148
NM_033380.3(COL4A5):c.1856C>T (p.Pro619Leu) rs281874681
NM_033380.3(COL4A5):c.1870G>C (p.Gly624Arg)
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) rs104886142
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.1886G>A (p.Gly629Asp) rs104886144
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp) rs281874683
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) rs1569494378
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys) rs2147813821
NM_033380.3(COL4A5):c.1940G>A (p.Gly647Glu) rs2147813867
NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA
NM_033380.3(COL4A5):c.1949G>A (p.Gly650Asp) rs2066625021
NM_033380.3(COL4A5):c.1960G>T (p.Asp654Tyr) rs1131692060
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp) rs2066625376
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) rs104886153
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) rs281874684
NM_033380.3(COL4A5):c.2015G>A (p.Gly672Asp)
NM_033380.3(COL4A5):c.2024G>A (p.Gly675Asp)
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del) rs1569494903
NM_033380.3(COL4A5):c.2032G>A (p.Gly678Ser)
NM_033380.3(COL4A5):c.2033G>A (p.Gly678Asp) rs2147819583
NM_033380.3(COL4A5):c.2042-2A>C rs2066636714
NM_033380.3(COL4A5):c.2042-2A>G rs2066636714
NM_033380.3(COL4A5):c.2069G>T (p.Gly690Val)
NM_033380.3(COL4A5):c.2086G>T (p.Gly696Cys)
NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu)
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val) rs1369565068
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) rs2066640120
NM_033380.3(COL4A5):c.216del (p.Pro73fs)
NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs)
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.219_226del (p.Arg74fs)
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) rs867265684
NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs)
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2244+2T>C
NM_033380.3(COL4A5):c.2246G>A (p.Gly749Asp) rs2066734214
NM_033380.3(COL4A5):c.224G>T (p.Gly75Val)
NM_033380.3(COL4A5):c.2268TGGGCCACC[1] (p.758PPG[1])
NM_033380.3(COL4A5):c.2287G>C (p.Gly763Arg)
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.228A>T (p.Gln76His) rs2147722497
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_033380.3(COL4A5):c.2296G>C (p.Gly766Arg)
NM_033380.3(COL4A5):c.2306G>A (p.Gly769Glu) rs1437633065
NM_033380.3(COL4A5):c.231+1G>T
NM_033380.3(COL4A5):c.2315G>C (p.Gly772Ala) rs104886173
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) rs104886173
NM_033380.3(COL4A5):c.2322del (p.Gly775fs)
NM_033380.3(COL4A5):c.232G>A (p.Gly78Ser)
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro) rs200371339
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg) rs104886174
NM_033380.3(COL4A5):c.2342_2343delinsTG (p.Gly781Val) rs2147832375
NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs) rs2066736944
NM_033380.3(COL4A5):c.2359G>C (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2377G>A (p.Gly793Arg)
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala) rs1603293624
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter) rs1298839151
NM_033380.3(COL4A5):c.2395+3A>G rs2147832635
NM_033380.3(COL4A5):c.2396-1G>A rs886041509
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp) rs2147849728
NM_033380.3(COL4A5):c.2404G>A (p.Gly802Arg) rs104886179
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg)
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter) rs2066899099
NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg) rs2147849915
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg) rs104886184
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) rs281874692
NM_033380.3(COL4A5):c.2474del (p.Gly825fs)
NM_033380.3(COL4A5):c.2509+1G>T
NM_033380.3(COL4A5):c.2510-1G>A rs770451831
NM_033380.3(COL4A5):c.2510-1_2514del rs2147859764
NM_033380.3(COL4A5):c.2510G>A (p.Gly837Asp)
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.2554G>A (p.Gly852Arg) rs104886186
NM_033380.3(COL4A5):c.2576del (p.Pro859fs)
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) rs1603297305
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) rs104886188
NM_033380.3(COL4A5):c.2604del (p.Gly869fs) rs1556419850
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_033380.3(COL4A5):c.2624G>A (p.Gly875Glu) rs104886191
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs)
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter) rs2067017511
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val) rs104886201
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg) rs2067018186
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter)
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser) rs1569497776
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter)
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs)
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.2713G>A (p.Gly905Ser)
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg) rs140753501
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs)
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) rs104886363
NM_033380.3(COL4A5):c.2740G>A (p.Gly914Ser)
NM_033380.3(COL4A5):c.2741G>C (p.Gly914Ala)
NM_033380.3(COL4A5):c.2749G>A (p.Gly917Ser)
NM_033380.3(COL4A5):c.2750G>A (p.Gly917Asp)
NM_033380.3(COL4A5):c.2759G>T (p.Gly920Val)
NM_033380.3(COL4A5):c.275_276+2del
NM_033380.3(COL4A5):c.276+2dup rs2065934135
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter) rs2067060145
NM_033380.3(COL4A5):c.2767+4A>G
NM_033380.3(COL4A5):c.2785G>A (p.Gly929Ser)
NM_033380.3(COL4A5):c.2786G>A (p.Gly929Asp) rs2147865584
NM_033380.3(COL4A5):c.278G>T (p.Gly93Val) rs2147746087
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.2794G>C (p.Gly932Arg)
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs) rs104886368
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2821G>C (p.Gly941Arg) rs104886196
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val) rs2066011284
NM_033380.3(COL4A5):c.2908G>A (p.Gly970Ser) rs2147865920
NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs)
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter) rs2067108651
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu) rs1603298378
NM_033380.3(COL4A5):c.2927G>T (p.Gly976Val)
NM_033380.3(COL4A5):c.2936G>A (p.Gly979Glu)
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter) rs2067109223
NM_033380.3(COL4A5):c.2954del (p.Gly985fs)
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter) rs2067109423
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) rs2066011417
NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.296G>C (p.Gly99Ala)
NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg)
NM_033380.3(COL4A5):c.2981G>C (p.Gly994Ala)
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter) rs756070988
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter)
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
NM_033380.3(COL4A5):c.3016+2T>C rs2147869403
NM_033380.3(COL4A5):c.3017-2A>G
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp) rs104886202
NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter) rs2067140465
NM_033380.3(COL4A5):c.3052G>A (p.Gly1018Ser)
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys) rs1603298869
NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp) rs1569498896
NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val)
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)
NM_033380.3(COL4A5):c.3079G>A (p.Gly1027Arg) rs2147872254
NM_033380.3(COL4A5):c.3080G>A (p.Gly1027Glu) rs104886209
NM_033380.3(COL4A5):c.3087_3093del (p.Gly1030fs) rs2147872291
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val)
NM_033380.3(COL4A5):c.3106+1G>A rs2147872358
NM_033380.3(COL4A5):c.3107-1G>A
NM_033380.3(COL4A5):c.3107-4A>G rs397515497
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser) rs104886214
NM_033380.3(COL4A5):c.3115G>T (p.Gly1039Cys)
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.314G>A (p.Gly105Asp) rs1569488381
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter) rs2067151807
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val) rs1603298993
NM_033380.3(COL4A5):c.3169G>C (p.Gly1057Arg)
NM_033380.3(COL4A5):c.3170G>A (p.Gly1057Glu)
NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val) rs1569499010
NM_033380.3(COL4A5):c.3179del (p.Gly1060fs)
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.321+1G>A rs2147746303
NM_033380.3(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter) rs2067154422
NM_033380.3(COL4A5):c.3257G>T (p.Gly1086Val) rs104886232
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter) rs2067818573
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_033380.3(COL4A5):c.3310G>A (p.Gly1104Ser)
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys) rs1569504072
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp) rs104886224
NM_033380.3(COL4A5):c.3320G>A (p.Gly1107Glu)
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs)
NM_033380.3(COL4A5):c.3373+2T>C rs2147935467
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg) rs2067822565
NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)
NM_033380.3(COL4A5):c.3399del (p.Gly1134fs)
NM_033380.3(COL4A5):c.3400G>A (p.Gly1134Ser)
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.340G>A (p.Gly114Arg)
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_033380.3(COL4A5):c.3436G>A (p.Gly1146Arg) rs2147953043
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu) rs2068061224
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3454G>T (p.Gly1152Cys) rs2147953102
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu) rs2068082287
NM_033380.3(COL4A5):c.3488del (p.Pro1163fs)
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys) rs1057518125
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) rs104886236
NM_033380.3(COL4A5):c.3500G>A (p.Gly1167Asp)
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg) rs104886237
NM_033380.3(COL4A5):c.3508G>T (p.Gly1170Cys) rs104886237
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3509G>T (p.Gly1170Val)
NM_033380.3(COL4A5):c.3526G>A (p.Gly1176Arg) rs1569505525
NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter) rs104886240
NM_033380.3(COL4A5):c.3536G>T (p.Gly1179Val) rs2147955255
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg) rs1353480777
NM_033380.3(COL4A5):c.3554-2A>G rs2147956337
NM_033380.3(COL4A5):c.3554-3C>G rs104886382
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val) rs2068097992
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs) rs2147956419
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs) rs1569505604
NM_033380.3(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
NM_033380.3(COL4A5):c.3605G>T (p.Gly1202Val) rs2068126366
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter) rs2068126785
NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg)
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu) rs2068126851
NM_033380.3(COL4A5):c.3634dup (p.Ile1212fs) rs2147959089
NM_033380.3(COL4A5):c.3640G>A (p.Gly1214Arg) rs2147959120
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3659G>T (p.Gly1220Val) rs104886251
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter)
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3686G>A (p.Gly1229Asp) rs104886253
NM_033380.3(COL4A5):c.3686G>C (p.Gly1229Ala) rs104886253
NM_033380.3(COL4A5):c.3686G>T (p.Gly1229Val) rs104886253
NM_033380.3(COL4A5):c.3695G>A (p.Gly1232Asp)
NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys) rs2147959392
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) rs2068130178
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3713G>A (p.Gly1238Asp)
NM_033380.3(COL4A5):c.3721G>A (p.Gly1241Ser) rs104886255
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) rs281874721
NM_033380.3(COL4A5):c.3730G>A (p.Gly1244Ser) rs143552311
NM_033380.3(COL4A5):c.3730G>C (p.Gly1244Arg) rs143552311
NM_033380.3(COL4A5):c.3754G>A (p.Gly1252Ser) rs104886262
NM_033380.3(COL4A5):c.3755G>A (p.Gly1252Asp) rs2147959671
NM_033380.3(COL4A5):c.3773G>A (p.Gly1258Asp)
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val)
NM_033380.3(COL4A5):c.3781G>A (p.Gly1261Arg) rs2147959775
NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)
NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter)
NM_033380.3(COL4A5):c.3784del (p.Arg1262fs)
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val) rs2147963152
NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp) rs2147974770
NM_033380.3(COL4A5):c.3809G>T (p.Gly1270Val) rs2147974770
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser) rs2147974808
NM_033380.3(COL4A5):c.3826_3827delinsAT (p.Gly1276Ile)
NM_033380.3(COL4A5):c.3827G>T (p.Gly1276Val) rs2147974833
NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)
NM_033380.3(COL4A5):c.384+1G>A rs1569488437
NM_033380.3(COL4A5):c.3844G>A (p.Gly1282Arg)
NM_033380.3(COL4A5):c.385-2A>G rs2066062676
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter) rs2147974914
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser)
NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs) rs2068330297
NM_033380.3(COL4A5):c.3890G>T (p.Gly1297Val)
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) rs2147975020
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys) rs1327176357
NM_033380.3(COL4A5):c.3917G>T (p.Gly1306Val)
NM_033380.3(COL4A5):c.3940del (p.Gln1314fs) rs2147975180
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.3942_3942+1del rs2147975210
NM_033380.3(COL4A5):c.3943-1G>A rs281874725
NM_033380.3(COL4A5):c.3944G>T (p.Gly1315Val) rs2147979912
NM_033380.3(COL4A5):c.394G>A (p.Gly132Arg) rs2147753780
NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs)
NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu) rs1569488841
NM_033380.3(COL4A5):c.3970G>A (p.Gly1324Arg) rs2068409652
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs) rs1131692246
NM_033380.3(COL4A5):c.3989G>C (p.Gly1330Ala) rs2147980049
NM_033380.3(COL4A5):c.4015+2T>C rs2147980108
NM_033380.3(COL4A5):c.4016G>A (p.Gly1339Asp)
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter) rs2068413590
NM_033380.3(COL4A5):c.4042G>A (p.Gly1348Arg) rs1569507398
NM_033380.3(COL4A5):c.404G>T (p.Gly135Val)
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter)
NM_033380.3(COL4A5):c.4060G>T (p.Gly1354Trp)
NM_033380.3(COL4A5):c.4069G>A (p.Gly1357Arg)
NM_033380.3(COL4A5):c.4070G>A (p.Gly1357Glu) rs104886402
NM_033380.3(COL4A5):c.4087+1G>C
NM_033380.3(COL4A5):c.4088-2A>G
NM_033380.3(COL4A5):c.4088G>C (p.Gly1363Ala) rs2147982015
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) rs767619131
NM_033380.3(COL4A5):c.413G>A (p.Gly138Asp) rs2147753910
NM_033380.3(COL4A5):c.4145G>A (p.Gly1382Asp)
NM_033380.3(COL4A5):c.4145G>C (p.Gly1382Ala) rs2147982134
NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del) rs1569507550
NM_033380.3(COL4A5):c.4162G>A (p.Gly1388Ser)
NM_033380.3(COL4A5):c.4172G>T (p.Gly1391Val)
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)
NM_033380.3(COL4A5):c.4180G>T (p.Gly1394Cys)
NM_033380.3(COL4A5):c.4184dup (p.Pro1396fs)
NM_033380.3(COL4A5):c.4198G>T (p.Gly1400Ter)
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter)
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112
NM_033380.3(COL4A5):c.4222del (p.Thr1408fs) rs2068537554
NM_033380.3(COL4A5):c.4270G>A (p.Gly1424Ser)
NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter) rs2147753940
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs) rs2068539903
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter) rs143778018
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)
NM_033380.3(COL4A5):c.4315+2T>A rs2147989449
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg) rs1569508169
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4342G>T (p.Gly1448Cys)
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu)
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) rs104886279
NM_033380.3(COL4A5):c.4360G>C (p.Gly1454Arg) rs104886279
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs)
NM_033380.3(COL4A5):c.438+1_438+3dup rs2066064057
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs) rs1569508360
NM_033380.3(COL4A5):c.439G>A (p.Gly147Arg) rs2066069145
NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg)
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter) rs2066069145
NM_033380.3(COL4A5):c.440G>A (p.Gly147Glu)
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs)
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr) rs1569508382
NM_033380.3(COL4A5):c.4446C>A (p.Cys1482Ter)
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4474G>A (p.Gly1492Ser) rs2147991584
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter)
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs)
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.466-12G>A rs104886414
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)
NM_033380.3(COL4A5):c.4703_4706+3del rs2068660300
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4707-1G>A
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs)
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter)
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.476G>T (p.Gly159Val)
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)
NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter) rs2148001666
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.4847C>G (p.Ser1616Ter)
NM_033380.3(COL4A5):c.4892_4895del (p.Arg1631fs)
NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs) rs1556463583
NM_033380.3(COL4A5):c.4913G>A (p.Cys1638Tyr) rs1569509333
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter) rs2066099798
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4995-1G>T rs2148003624
NM_033380.3(COL4A5):c.5050T>G (p.Cys1684Gly) rs104886310
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) rs2148003771
NM_033380.3(COL4A5):c.511G>A (p.Gly171Ser) rs1556404027
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys)
NM_033380.3(COL4A5):c.515del (p.Asn172fs)
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.530G>C (p.Gly177Ala)
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) rs281874755
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu) rs2147759475
NM_033380.3(COL4A5):c.546+4_546+7del rs1569489348
NM_033380.3(COL4A5):c.547-1G>A rs104886431
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp) rs104886059
NM_033380.3(COL4A5):c.556G>A (p.Gly186Ser)
NM_033380.3(COL4A5):c.557G>A (p.Gly186Asp) rs2147765101
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.575G>A (p.Gly192Glu) rs2147765197
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.609+875G>T rs1569490148
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter)
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_033380.3(COL4A5):c.620G>T (p.Gly207Val)
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) rs104886066
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_033380.3(COL4A5):c.645+2T>C rs1569490387
NM_033380.3(COL4A5):c.645+3_645+36del
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg) rs2147770608
NM_033380.3(COL4A5):c.671G>T (p.Gly224Val) rs2147770618
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs)
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs)
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val) rs281874763
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter)
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val) rs1569490592
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)
NM_033380.3(COL4A5):c.706G>A (p.Gly236Ser)
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.710del (p.Pro237fs)
NM_033380.3(COL4A5):c.711_716del (p.Gly239_Pro240del)
NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu) rs104886068
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter) rs2066188778
NM_033380.3(COL4A5):c.770_776del (p.Lys257fs)
NM_033380.3(COL4A5):c.780+1G>A
NM_033380.3(COL4A5):c.782G>A (p.Gly261Glu) rs2147776049
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.800G>T (p.Gly267Val) rs1556406775
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.826G>A (p.Gly276Ser)
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
NM_033380.3(COL4A5):c.834+1G>T
NM_033380.3(COL4A5):c.834del (p.Gly279fs) rs2066227699
NM_033380.3(COL4A5):c.835-1G>C
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.857G>C (p.Gly286Ala)
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser) rs2066231013
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) rs104886078
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.891+1G>T rs104886451
NM_033380.3(COL4A5):c.891+2del
NM_033380.3(COL4A5):c.891_891+1del
NM_033380.3(COL4A5):c.902G>A (p.Gly301Asp) rs1569491075
NM_033380.3(COL4A5):c.902G>T (p.Gly301Val)
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) rs2147657533
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_033380.3(COL4A5):c.928G>A (p.Gly310Arg) rs104886083
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu) rs1556407064
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) rs1556407064
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_033380.3(COL4A5):c.936+1G>A rs1569491107
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys) rs104886084
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val) rs2147781020
NM_033380.3(COL4A5):c.938del
NM_033380.3(COL4A5):c.946G>A (p.Gly316Ser) rs2066273571
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs)
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) rs104886086
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) rs2066274585
NM_033380.3(COL4A5):c.983G>T (p.Gly328Val) rs2066274585
NM_033380.3(COL4A5):c.983del (p.Gly328fs) rs1556407684
NM_033380.3(COL4A5):c.990+1G>T rs1556407701

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