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
|
|