NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)
|
rs2067110688
|
0.00003
|
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
|
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_033380.3(COL4A5):c.1031_1032+2del
|
rs2066302717
|
|
NM_033380.3(COL4A5):c.1032+1G>C
|
rs1569491753
|
|
NM_033380.3(COL4A5):c.1033-2A>G
|
rs2147787964
|
|
NM_033380.3(COL4A5):c.1075G>C (p.Gly359Arg)
|
|
|
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.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.1208G>A (p.Gly403Glu)
|
|
|
NM_033380.3(COL4A5):c.1234G>A (p.Gly412Arg)
|
rs2066425897
|
|
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)
|
rs104886102
|
|
NM_033380.3(COL4A5):c.1304G>A (p.Gly435Glu)
|
|
|
NM_033380.3(COL4A5):c.1304_1305delinsTT (p.Gly435Val)
|
rs2147797124
|
|
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.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.1490G>A (p.Gly497Asp)
|
rs2147806122
|
|
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.1571G>A (p.Gly524Asp)
|
rs104886119
|
|
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.1681G>A (p.Gly561Arg)
|
rs104886136
|
|
NM_033380.3(COL4A5):c.1682G>A (p.Gly561Glu)
|
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp)
|
rs2147810410
|
|
NM_033380.3(COL4A5):c.1762G>A (p.Gly588Ser)
|
|
|
NM_033380.3(COL4A5):c.1763G>A (p.Gly588Asp)
|
|
|
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.1817G>T (p.Gly606Val)
|
|
|
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.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.1940G>A (p.Gly647Glu)
|
rs2147813867
|
|
NM_033380.3(COL4A5):c.1949G>A (p.Gly650Asp)
|
rs2066625021
|
|
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.2069G>T (p.Gly690Val)
|
|
|
NM_033380.3(COL4A5):c.2086G>T (p.Gly696Cys)
|
|
|
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu)
|
rs1603292422
|
|
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser)
|
rs867265684
|
|
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.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.2315G>C (p.Gly772Ala)
|
rs104886173
|
|
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val)
|
rs104886173
|
|
NM_033380.3(COL4A5):c.232G>A (p.Gly78Ser)
|
|
|
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser)
|
rs104886174
|
|
NM_033380.3(COL4A5):c.2342_2343delinsTG (p.Gly781Val)
|
rs2147832375
|
|
NM_033380.3(COL4A5):c.2359G>C (p.Gly787Arg)
|
rs1603293605
|
|
NM_033380.3(COL4A5):c.2377G>A (p.Gly793Arg)
|
|
|
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.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
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.2554G>A (p.Gly852Arg)
|
rs104886186
|
|
NM_033380.3(COL4A5):c.2624G>A (p.Gly875Glu)
|
rs104886191
|
|
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val)
|
rs104886201
|
|
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
|
|
|
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp)
|
rs281874702
|
|
NM_033380.3(COL4A5):c.2713G>A (p.Gly905Ser)
|
|
|
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)
|
rs878853089
|
|
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.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.2804G>A (p.Gly935Asp)
|
rs104886195
|
|
NM_033380.3(COL4A5):c.2908G>A (p.Gly970Ser)
|
rs2147865920
|
|
NM_033380.3(COL4A5):c.2927G>T (p.Gly976Val)
|
|
|
NM_033380.3(COL4A5):c.2936G>A (p.Gly979Glu)
|
|
|
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.2965_2982del (p.Asp989_Gly994del)
|
rs104886374
|
|
NM_033380.3(COL4A5):c.296G>C (p.Gly99Ala)
|
|
|
NM_033380.3(COL4A5):c.2981G>C (p.Gly994Ala)
|
|
|
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp)
|
rs104886202
|
|
NM_033380.3(COL4A5):c.3052G>A (p.Gly1018Ser)
|
|
|
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.3107-4A>G
|
rs397515497
|
|
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)
|
rs104886212
|
|
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.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.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.3257G>T (p.Gly1086Val)
|
rs104886232
|
|
NM_033380.3(COL4A5):c.3310G>A (p.Gly1104Ser)
|
|
|
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys)
|
rs1569504072
|
|
NM_033380.3(COL4A5):c.3320G>A (p.Gly1107Glu)
|
|
|
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
|
|
|
NM_033380.3(COL4A5):c.3373+2T>C
|
rs2147935467
|
|
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.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.3490G>T (p.Gly1164Cys)
|
rs1057518125
|
|
NM_033380.3(COL4A5):c.3500G>A (p.Gly1167Asp)
|
|
|
NM_033380.3(COL4A5):c.3508G>T (p.Gly1170Cys)
|
rs104886237
|
|
NM_033380.3(COL4A5):c.3509G>T (p.Gly1170Val)
|
|
|
NM_033380.3(COL4A5):c.3526G>A (p.Gly1176Arg)
|
rs1569505525
|
|
NM_033380.3(COL4A5):c.3536G>T (p.Gly1179Val)
|
rs2147955255
|
|
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.3640G>A (p.Gly1214Arg)
|
rs2147959120
|
|
NM_033380.3(COL4A5):c.3659G>T (p.Gly1220Val)
|
rs104886251
|
|
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.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.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.3781G>A (p.Gly1261Arg)
|
rs2147959775
|
|
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.3827G>T (p.Gly1276Val)
|
rs2147974833
|
|
NM_033380.3(COL4A5):c.384+1G>A
|
rs1569488437
|
|
NM_033380.3(COL4A5):c.3844G>A (p.Gly1282Arg)
|
|
|
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.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.395G>A (p.Gly132Glu)
|
rs1569488841
|
|
NM_033380.3(COL4A5):c.3970G>A (p.Gly1324Arg)
|
rs2068409652
|
|
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.4042G>A (p.Gly1348Arg)
|
rs1569507398
|
|
NM_033380.3(COL4A5):c.404G>T (p.Gly135Val)
|
|
|
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.4088-2A>G
|
|
|
NM_033380.3(COL4A5):c.4088G>C (p.Gly1363Ala)
|
rs2147982015
|
|
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>T (p.Gly1394Cys)
|
|
|
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser)
|
rs2147982351
|
|
NM_033380.3(COL4A5):c.4217-1G>A
|
rs587776402
|
|
NM_033380.3(COL4A5):c.4270G>A (p.Gly1424Ser)
|
|
|
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg)
|
rs1569508169
|
|
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp)
|
rs2147991184
|
|
NM_033380.3(COL4A5):c.4360G>C (p.Gly1454Arg)
|
rs104886279
|
|
NM_033380.3(COL4A5):c.439G>A (p.Gly147Arg)
|
rs2066069145
|
|
NM_033380.3(COL4A5):c.440G>A (p.Gly147Glu)
|
|
|
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.458G>T (p.Gly153Val)
|
rs1569488946
|
|
NM_033380.3(COL4A5):c.4703_4706+3del
|
rs2068660300
|
|
NM_033380.3(COL4A5):c.4707-1G>A
|
|
|
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.476G>T (p.Gly159Val)
|
|
|
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)
|
rs104886298
|
|
NM_033380.3(COL4A5):c.4913G>A (p.Cys1638Tyr)
|
rs1569509333
|
|
NM_033380.3(COL4A5):c.5050T>G (p.Cys1684Gly)
|
rs104886310
|
|
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.530G>A (p.Gly177Asp)
|
rs1569489328
|
|
NM_033380.3(COL4A5):c.530G>C (p.Gly177Ala)
|
|
|
NM_033380.3(COL4A5):c.546+4_546+7del
|
rs1569489348
|
|
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser)
|
rs1556404985
|
|
NM_033380.3(COL4A5):c.556G>A (p.Gly186Ser)
|
|
|
NM_033380.3(COL4A5):c.557G>A (p.Gly186Asp)
|
rs2147765101
|
|
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.611G>A (p.Gly204Asp)
|
rs104886063
|
|
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.645+2T>C
|
rs1569490387
|
|
NM_033380.3(COL4A5):c.687+5G>A
|
rs1556405930
|
|
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)
|
rs1569490592
|
|
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp)
|
rs1556406001
|
|
NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu)
|
rs104886068
|
|
NM_033380.3(COL4A5):c.780+1G>A
|
|
|
NM_033380.3(COL4A5):c.782G>A (p.Gly261Glu)
|
rs2147776049
|
|
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg)
|
rs1603283567
|
|
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)
|
rs2147776175
|
|
NM_033380.3(COL4A5):c.826G>A (p.Gly276Ser)
|
|
|
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.866G>A (p.Gly289Asp)
|
rs104886450
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.891+2del
|
|
|
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.920G>A (p.Gly307Asp)
|
rs104886082
|
|
NM_033380.3(COL4A5):c.928G>A (p.Gly310Arg)
|
rs104886083
|
|
NM_033380.3(COL4A5):c.936+1G>A
|
rs1569491107
|
|
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys)
|
rs104886084
|
|
NM_033380.3(COL4A5):c.946G>A (p.Gly316Ser)
|
rs2066273571
|
|
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
|
|