NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
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.231+1G>A
|
rs104886349
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser)
|
rs767619131
|
0.00001
|
NM_033380.3(COL4A5):c.4315+1G>A
|
rs587776403
|
0.00001
|
NC_000023.10:g.(?_107782956)_(107821633_?)del
|
|
|
NC_000023.10:g.(?_107782958)_(107814422_?)del
|
|
|
NC_000023.10:g.(?_107782966)_(107812061_?)del
|
|
|
NC_000023.10:g.(?_107782976)_(107858254_?)del
|
|
|
NC_000023.10:g.(?_107802274)_(107933678_?)del
|
|
|
NC_000023.10:g.(?_107802294)_(107807156_?)del
|
|
|
NC_000023.10:g.(?_107807092)_(107898707_?)del
|
|
|
NC_000023.10:g.(?_107807112)_(107807156_?)del
|
|
|
NC_000023.10:g.(?_107811839)_(107812071_?)del
|
|
|
NC_000023.10:g.(?_107817240)_(107821596_?)del
|
|
|
NC_000023.10:g.(?_107819120)_(107827775_?)del
|
|
|
NC_000023.10:g.(?_107821172)_(107821623_?)del
|
|
|
NC_000023.10:g.(?_107826094)_(107826187_?)del
|
|
|
NC_000023.10:g.(?_107834471)_(107835925_?)del
|
|
|
NC_000023.10:g.(?_107838719)_(107838851_?)del
|
|
|
NC_000023.10:g.(?_107838739)_(107840798_?)del
|
|
|
NC_000023.10:g.(?_107840208)_(107898707_?)del
|
|
|
NC_000023.10:g.(?_107841912)_(107845239_?)del
|
|
|
NC_000023.10:g.(?_107849932)_(107858274_?)del
|
|
|
NC_000023.10:g.(?_107867446)_(107869599_?)del
|
|
|
NC_000023.10:g.(?_107868915)_(107869044_?)del
|
|
|
NC_000023.10:g.(?_107868915)_(107869599_?)del
|
|
|
NC_000023.10:g.(?_107898541)_(107911754_?)del
|
|
|
NC_000023.10:g.(?_107908717)_(107911754_?)del
|
|
|
NC_000023.10:g.(?_107913448)_(107939618_?)del
|
|
|
NC_000023.10:g.(?_107920710)_(107930944_?)del
|
|
|
NC_000023.10:g.(?_107929241)_(107930944_?)del
|
|
|
NC_000023.11:g.(?_108440116)_(108696388_?)del
|
|
|
NC_000023.11:g.108687484_108687501dup
|
|
|
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1001G>T (p.Gly334Val)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1006_1007insAACA (p.Thr336fs)
|
|
|
NM_033380.3(COL4A5):c.1032+3_1032+6del
|
rs104886314
|
|
NM_033380.3(COL4A5):c.1033-1_1033insAAATTCCCAG
|
rs2147787972
|
|
NM_033380.3(COL4A5):c.1093G>A (p.Gly365Arg)
|
rs2147788229
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)
|
rs2066342176
|
|
NM_033380.3(COL4A5):c.1121G>C (p.Gly374Ala)
|
rs104886108
|
|
NM_033380.3(COL4A5):c.1139del (p.Gly380fs)
|
rs2147788399
|
|
NM_033380.3(COL4A5):c.1177_1178dup (p.Met393fs)
|
rs1603287481
|
|
NM_033380.3(COL4A5):c.1181del (p.Gly394fs)
|
rs281874658
|
|
NM_033380.3(COL4A5):c.1190G>T (p.Gly397Val)
|
rs2147796671
|
|
NM_033380.3(COL4A5):c.1217G>A (p.Gly406Asp)
|
rs104886100
|
|
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val)
|
rs104886100
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1258G>A (p.Gly420Arg)
|
rs1556410266
|
|
NM_033380.3(COL4A5):c.1276G>T (p.Gly426Ter)
|
rs104886111
|
|
NM_033380.3(COL4A5):c.1286G>A (p.Gly429Glu)
|
rs104886112
|
|
NM_033380.3(COL4A5):c.1293del (p.Leu433fs)
|
|
|
NM_033380.3(COL4A5):c.136G>T (p.Glu46Ter)
|
rs762399773
|
|
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs)
|
rs104886113
|
|
NM_033380.3(COL4A5):c.1377del (p.Gly460fs)
|
|
|
NM_033380.3(COL4A5):c.1396G>T (p.Gly466Ter)
|
rs2147798143
|
|
NM_033380.3(COL4A5):c.141+2T>C
|
rs2147657763
|
|
NM_033380.3(COL4A5):c.1411C>T (p.Gln471Ter)
|
rs2147798207
|
|
NM_033380.3(COL4A5):c.1414G>A (p.Gly472Arg)
|
rs104886116
|
|
NM_033380.3(COL4A5):c.1423+1G>A
|
rs104886312
|
|
NM_033380.3(COL4A5):c.1423+1G>T
|
rs104886312
|
|
NM_033380.3(COL4A5):c.150_151del (p.Gly51fs)
|
|
|
NM_033380.3(COL4A5):c.1517-1G>A
|
rs104886332
|
|
NM_033380.3(COL4A5):c.1517-1G>C
|
rs104886332
|
|
NM_033380.3(COL4A5):c.153del (p.Pro53fs)
|
rs2147722166
|
|
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg)
|
rs2147809070
|
|
NM_033380.3(COL4A5):c.1543G>C (p.Gly515Arg)
|
rs2147809070
|
|
NM_033380.3(COL4A5):c.1549A>T (p.Lys517Ter)
|
rs2147809122
|
|
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp)
|
rs104886122
|
|
NM_033380.3(COL4A5):c.1587+1G>A
|
rs104886313
|
|
NM_033380.3(COL4A5):c.1587+1G>C
|
|
|
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp)
|
rs104886125
|
|
NM_033380.3(COL4A5):c.1633G>A (p.Gly545Ser)
|
rs104886126
|
|
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)
|
rs281874673
|
|
NM_033380.3(COL4A5):c.1643del (p.Gly548fs)
|
rs2147810144
|
|
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp)
|
rs1603290148
|
|
NM_033380.3(COL4A5):c.1673_1682del (p.Gly558fs)
|
|
|
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.1718G>A (p.Gly573Asp)
|
rs104886138
|
|
NM_033380.3(COL4A5):c.1722dup (p.Pro575fs)
|
|
|
NM_033380.3(COL4A5):c.1735G>A (p.Gly579Arg)
|
rs104886139
|
|
NM_033380.3(COL4A5):c.1738C>T (p.Gln580Ter)
|
rs281874676
|
|
NM_033380.3(COL4A5):c.1753G>A (p.Gly585Arg)
|
|
|
NM_033380.3(COL4A5):c.1779+1G>A
|
rs104886337
|
|
NM_033380.3(COL4A5):c.1780-1G>T
|
rs104886338
|
|
NM_033380.3(COL4A5):c.1780-2A>G
|
|
|
NM_033380.3(COL4A5):c.1780-6T>G
|
rs1569494262
|
|
NM_033380.3(COL4A5):c.1807G>T (p.Gly603Cys)
|
|
|
NM_033380.3(COL4A5):c.1808G>A (p.Gly603Asp)
|
rs104886133
|
|
NM_033380.3(COL4A5):c.1815del (p.Asn607fs)
|
rs2066568818
|
|
NM_033380.3(COL4A5):c.1818_1871del (p.Asn607_Gly624del)
|
|
|
NM_033380.3(COL4A5):c.1834G>C (p.Gly612Arg)
|
|
|
NM_033380.3(COL4A5):c.1835G>A (p.Gly612Asp)
|
rs281874680
|
|
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg)
|
rs1569494304
|
|
NM_033380.3(COL4A5):c.1844G>A (p.Gly615Glu)
|
rs794727397
|
|
NM_033380.3(COL4A5):c.1862G>A (p.Gly621Asp)
|
rs1569494322
|
|
NM_033380.3(COL4A5):c.1895G>A (p.Gly632Asp)
|
rs104886145
|
|
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp)
|
rs281874683
|
|
NM_033380.3(COL4A5):c.1922del (p.Gly641fs)
|
|
|
NM_033380.3(COL4A5):c.1925del (p.Asn642fs)
|
rs2147813799
|
|
NM_033380.3(COL4A5):c.1931G>A (p.Gly644Asp)
|
rs1569494386
|
|
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter)
|
rs1603290796
|
|
NM_033380.3(COL4A5):c.1940G>T (p.Gly647Val)
|
rs2147813867
|
|
NM_033380.3(COL4A5):c.1948+1G>C
|
rs104886339
|
|
NM_033380.3(COL4A5):c.1948G>A (p.Gly650Ser)
|
rs1569494393
|
|
NM_033380.3(COL4A5):c.1958G>C (p.Gly653Ala)
|
|
|
NM_033380.3(COL4A5):c.1989del (p.Lys664fs)
|
rs2066626118
|
|
NM_033380.3(COL4A5):c.1994del (p.Pro665fs)
|
|
|
NM_033380.3(COL4A5):c.1A>G (p.Met1Val)
|
rs104886050
|
|
NM_033380.3(COL4A5):c.2005G>C (p.Gly669Arg)
|
rs281874684
|
|
NM_033380.3(COL4A5):c.2006del (p.Gly669fs)
|
|
|
NM_033380.3(COL4A5):c.2007dup (p.Asn670Ter)
|
|
|
NM_033380.3(COL4A5):c.2023G>A (p.Gly675Ser)
|
rs104886157
|
|
NM_033380.3(COL4A5):c.2041G>A (p.Gly681Ser)
|
rs2066627294
|
|
NM_033380.3(COL4A5):c.2042-1G>A
|
rs2147820825
|
|
NM_033380.3(COL4A5):c.2042-2A>G
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2042G>A (p.Gly681Asp)
|
rs104886158
|
|
NM_033380.3(COL4A5):c.2057del (p.Pro686fs)
|
rs104886167
|
|
NM_033380.3(COL4A5):c.2075dup (p.Gly693fs)
|
|
|
NM_033380.3(COL4A5):c.2077G>A (p.Gly693Arg)
|
rs1569495038
|
|
NM_033380.3(COL4A5):c.2078G>T (p.Gly693Val)
|
|
|
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp)
|
rs2147820991
|
|
NM_033380.3(COL4A5):c.2095G>A (p.Gly699Arg)
|
rs1569495049
|
|
NM_033380.3(COL4A5):c.2114del (p.Gly705fs)
|
|
|
NM_033380.3(COL4A5):c.2146+1G>T
|
|
|
NM_033380.3(COL4A5):c.2175_2210del (p.Ala726_Gly737del)
|
|
|
NM_033380.3(COL4A5):c.2210G>A (p.Gly737Asp)
|
|
|
NM_033380.3(COL4A5):c.2210del (p.Gly737fs)
|
|
|
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu)
|
rs867625069
|
|
NM_033380.3(COL4A5):c.2245-1G>A
|
rs104886348
|
|
NM_033380.3(COL4A5):c.2262del (p.Leu755fs)
|
rs2147831991
|
|
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)
|
rs281874689
|
|
NM_033380.3(COL4A5):c.2294del (p.Pro765fs)
|
rs2066735315
|
|
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser)
|
rs104886174
|
|
NM_033380.3(COL4A5):c.2348_2349insT (p.Pro785fs)
|
rs2147832420
|
|
NM_033380.3(COL4A5):c.2351G>T (p.Gly784Val)
|
|
|
NM_033380.3(COL4A5):c.2386G>A (p.Gly796Arg)
|
rs104886177
|
|
NM_033380.3(COL4A5):c.2386G>C (p.Gly796Arg)
|
rs104886177
|
|
NM_033380.3(COL4A5):c.2395+1G>A
|
rs869025331
|
|
NM_033380.3(COL4A5):c.2423G>A (p.Gly808Glu)
|
rs104886180
|
|
NM_033380.3(COL4A5):c.2431G>T (p.Gly811Ter)
|
|
|
NM_033380.3(COL4A5):c.2432G>T (p.Gly811Val)
|
rs104886183
|
|
NM_033380.3(COL4A5):c.2447del (p.Pro816fs)
|
|
|
NM_033380.3(COL4A5):c.2451_2483del (p.Gly819_Ile829del)
|
|
|
NM_033380.3(COL4A5):c.2454_2457dup (p.Val820fs)
|
rs2147849950
|
|
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg)
|
rs104886184
|
|
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.2489del (p.Pro830fs)
|
|
|
NM_033380.3(COL4A5):c.2497del (p.Pro832_Ile833insTer)
|
rs2066901407
|
|
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)
|
rs281874696
|
|
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val)
|
rs2147850123
|
|
NM_033380.3(COL4A5):c.2518G>T (p.Gly840Ter)
|
rs2147859836
|
|
NM_033380.3(COL4A5):c.2530G>T (p.Glu844Ter)
|
|
|
NM_033380.3(COL4A5):c.2540_2563del (p.Asp847_Asp854del)
|
|
|
NM_033380.3(COL4A5):c.2555G>A (p.Gly852Glu)
|
rs104886187
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2614G>T (p.Gly872Cys)
|
rs104886190
|
|
NM_033380.3(COL4A5):c.2615G>A (p.Gly872Asp)
|
rs1556419869
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.2641G>A (p.Gly881Arg)
|
|
|
NM_033380.3(COL4A5):c.2655dup (p.Ala886fs)
|
rs2147860367
|
|
NM_033380.3(COL4A5):c.2659G>A (p.Gly887Ser)
|
rs281874699
|
|
NM_033380.3(COL4A5):c.2660G>A (p.Gly887Asp)
|
rs104886201
|
|
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)
|
rs1556420349
|
|
NM_033380.3(COL4A5):c.2687G>T (p.Gly896Val)
|
|
|
NM_033380.3(COL4A5):c.2786del (p.Gly929fs)
|
rs2147865567
|
|
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter)
|
rs2147865716
|
|
NM_033380.3(COL4A5):c.2846del (p.Pro949fs)
|
rs104886197
|
|
NM_033380.3(COL4A5):c.2856del (p.Gly953fs)
|
rs2147865795
|
|
NM_033380.3(COL4A5):c.286G>A (p.Gly96Arg)
|
rs281874706
|
|
NM_033380.3(COL4A5):c.2889del (p.Gly964fs)
|
|
|
NM_033380.3(COL4A5):c.2902del (p.Glu968fs)
|
rs2147865884
|
|
NM_033380.3(COL4A5):c.2917+1G>C
|
rs104886371
|
|
NM_033380.3(COL4A5):c.2927del (p.Gly976fs)
|
rs2147869121
|
|
NM_033380.3(COL4A5):c.2950C>T (p.Gln984Ter)
|
rs2147869202
|
|
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del)
|
rs1556421106
|
|
NM_033380.3(COL4A5):c.2962G>T (p.Gly988Ter)
|
|
|
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del)
|
rs104886374
|
|
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter)
|
rs2147869275
|
|
NM_033380.3(COL4A5):c.3017-1G>A
|
rs104886378
|
|
NM_033380.3(COL4A5):c.3017-2A>G
|
|
|
NM_033380.3(COL4A5):c.3017G>T (p.Gly1006Val)
|
rs104886202
|
|
NM_033380.3(COL4A5):c.3035G>A (p.Gly1012Asp)
|
rs2147872098
|
|
NM_033380.3(COL4A5):c.3051dup (p.Gly1018fs)
|
rs2147872148
|
|
NM_033380.3(COL4A5):c.3072del (p.Gly1027fs)
|
rs2147872245
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3097G>A (p.Gly1033Ser)
|
|
|
NM_033380.3(COL4A5):c.3106G>C (p.Gly1036Arg)
|
rs2147872357
|
|
NM_033380.3(COL4A5):c.3128_3134del (p.Pro1043fs)
|
|
|
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter)
|
rs104886217
|
|
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser)
|
rs104886219
|
|
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3216_3229del (p.Ser1072fs)
|
|
|
NM_033380.3(COL4A5):c.3230del (p.Gly1077fs)
|
rs2147873472
|
|
NM_033380.3(COL4A5):c.3246+1G>A
|
rs1569499064
|
|
NM_033380.3(COL4A5):c.3247-2A>G
|
rs2147934967
|
|
NM_033380.3(COL4A5):c.3256G>C (p.Gly1086Arg)
|
rs104886231
|
|
NM_033380.3(COL4A5):c.3259_3285del (p.Leu1087_Gly1095del)
|
|
|
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)
|
rs1603306716
|
|
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)
|
rs104886225
|
|
NM_033380.3(COL4A5):c.331_361del (p.Gly111fs)
|
|
|
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg)
|
rs2147935344
|
|
NM_033380.3(COL4A5):c.3347G>A (p.Gly1116Glu)
|
rs281874713
|
|
NM_033380.3(COL4A5):c.3368del (p.Phe1123fs)
|
rs1569504092
|
|
NM_033380.3(COL4A5):c.3373G>C (p.Gly1125Arg)
|
rs2067822565
|
|
NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)
|
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3454+1G>A
|
|
|
NM_033380.3(COL4A5):c.3455-9A>G
|
rs104886388
|
|
NM_033380.3(COL4A5):c.3481G>A (p.Gly1161Arg)
|
rs104886235
|
|
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu)
|
rs1603310380
|
|
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys)
|
rs1057518125
|
|
NM_033380.3(COL4A5):c.3491G>A (p.Gly1164Asp)
|
rs2147955072
|
|
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter)
|
rs2068084185
|
|
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs)
|
rs2147956419
|
|
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg)
|
rs104886244
|
|
NM_033380.3(COL4A5):c.3587G>A (p.Gly1196Glu)
|
rs281874717
|
|
NM_033380.3(COL4A5):c.3587G>T (p.Gly1196Val)
|
rs281874717
|
|
NM_033380.3(COL4A5):c.3604+1G>A
|
|
|
NM_033380.3(COL4A5):c.3605-2A>G
|
rs104886385
|
|
NM_033380.3(COL4A5):c.3605G>A (p.Gly1202Asp)
|
rs2068126366
|
|
NM_033380.3(COL4A5):c.3613G>A (p.Gly1205Ser)
|
rs104886245
|
|
NM_033380.3(COL4A5):c.3614G>A (p.Gly1205Asp)
|
rs1556446493
|
|
NM_033380.3(COL4A5):c.3655_3680del (p.Pro1219fs)
|
|
|
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)
|
rs104886251
|
|
NM_033380.3(COL4A5):c.3668G>A (p.Gly1223Asp)
|
rs104886252
|
|
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.3704G>C (p.Gly1235Ala)
|
|
|
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)
|
rs104886255
|
|
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)
|
rs281874721
|
|
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)
|
rs104886261
|
|
NM_033380.3(COL4A5):c.3782G>A (p.Gly1261Glu)
|
rs104886264
|
|
NM_033380.3(COL4A5):c.3809-1G>A
|
|
|
NM_033380.3(COL4A5):c.3827G>A (p.Gly1276Asp)
|
rs2147974833
|
|
NM_033380.3(COL4A5):c.385-2A>G
|
rs2066062676
|
|
NM_033380.3(COL4A5):c.385-2A>T
|
rs2066062676
|
|
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter)
|
rs2147974914
|
|
NM_033380.3(COL4A5):c.3855dup (p.Ile1286fs)
|
|
|
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)
|
rs281874722
|
|
NM_033380.3(COL4A5):c.3922C>T (p.Gln1308Ter)
|
rs2147975083
|
|
NM_033380.3(COL4A5):c.3932del (p.Pro1311fs)
|
rs2147975121
|
|
NM_033380.3(COL4A5):c.3G>T (p.Met1Ile)
|
|
|
NM_033380.3(COL4A5):c.4015G>A (p.Gly1339Ser)
|
rs104886266
|
|
NM_033380.3(COL4A5):c.4038_4041del (p.Pro1347fs)
|
rs2147980410
|
|
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
|
rs1556453276
|
|
NM_033380.3(COL4A5):c.4069G>T (p.Gly1357Ter)
|
|
|
NM_033380.3(COL4A5):c.4079G>A (p.Gly1360Asp)
|
rs2147980527
|
|
NM_033380.3(COL4A5):c.4087+1G>A
|
rs587776401
|
|
NM_033380.3(COL4A5):c.4109del (p.Pro1370fs)
|
|
|
NM_033380.3(COL4A5):c.4165C>T (p.Gln1389Ter)
|
rs281874727
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
NM_033380.3(COL4A5):c.4339_4340dup (p.Gly1448fs)
|
rs2147991216
|
|
NM_033380.3(COL4A5):c.4341del (p.Gly1448fs)
|
|
|
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg)
|
rs104886276
|
|
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser)
|
rs104886279
|
|
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)
|
rs1603323174
|
|
NM_033380.3(COL4A5):c.4441del (p.Gln1481fs)
|
rs2147991468
|
|
NM_033380.3(COL4A5):c.4446C>G (p.Cys1482Trp)
|
rs2147991488
|
|
NM_033380.3(COL4A5):c.4454del (p.Gly1485fs)
|
|
|
NM_033380.3(COL4A5):c.4462C>T (p.Gln1488Ter)
|
rs2147991545
|
|
NM_033380.3(COL4A5):c.446del (p.Pro149fs)
|
rs104886054
|
|
NM_033380.3(COL4A5):c.4475G>C (p.Gly1492Ala)
|
rs104886282
|
|
NM_033380.3(COL4A5):c.4506_4507del (p.Arg1503fs)
|
rs1603323412
|
|
NM_033380.3(COL4A5):c.4528+1G>A
|
rs104886413
|
|
NM_033380.3(COL4A5):c.4528+2T>C
|
rs2147991737
|
|
NM_033380.3(COL4A5):c.4574dup (p.Met1525fs)
|
rs2147998416
|
|
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val)
|
rs1569488946
|
|
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs)
|
rs1603326561
|
|
NM_033380.3(COL4A5):c.4623T>G (p.Tyr1541Ter)
|
|
|
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.465+1G>A
|
rs2066070056
|
|
NM_033380.3(COL4A5):c.4654_4655insA (p.Pro1552fs)
|
rs2147998652
|
|
NM_033380.3(COL4A5):c.466-1G>C
|
rs2147759174
|
|
NM_033380.3(COL4A5):c.4676del (p.Lys1559fs)
|
rs2068659829
|
|
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)
|
rs104886286
|
|
NM_033380.3(COL4A5):c.4706+1G>C
|
|
|
NM_033380.3(COL4A5):c.4706+1G>T
|
rs1569508998
|
|
NM_033380.3(COL4A5):c.4706+2T>C
|
rs2147998807
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4743del (p.Val1582fs)
|
rs1569509210
|
|
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs)
|
rs1603328025
|
|
NM_033380.3(COL4A5):c.4821+1G>A
|
rs587776404
|
|
NM_033380.3(COL4A5):c.4821+2T>C
|
rs2148001764
|
|
NM_033380.3(COL4A5):c.4821G>A (p.Met1607Ile)
|
rs104886300
|
|
NM_033380.3(COL4A5):c.4847C>A (p.Ser1616Ter)
|
rs750941179
|
|
NM_033380.3(COL4A5):c.4871del (p.Gly1624fs)
|
|
|
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)
|
rs104886302
|
|
NM_033380.3(COL4A5):c.494C>A (p.Ser165Ter)
|
rs2066099798
|
|
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)
|
rs2068718016
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.4994+1G>A
|
|
|
NM_033380.3(COL4A5):c.4994G>A (p.Ser1665Asn)
|
rs104886305
|
|
NM_033380.3(COL4A5):c.4995-1G>T
|
rs2148003624
|
|
NM_033380.3(COL4A5):c.5006C>G (p.Ser1669Ter)
|
rs2148003651
|
|
NM_033380.3(COL4A5):c.5023G>T (p.Gly1675Ter)
|
rs2148003686
|
|
NM_033380.3(COL4A5):c.5030T>A (p.Leu1677Ter)
|
rs2148003713
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter)
|
rs104886306
|
|
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr)
|
rs2148003771
|
|
NM_033380.3(COL4A5):c.546+2T>G
|
rs2066101487
|
|
NM_033380.3(COL4A5):c.546+2dup
|
rs1569489353
|
|
NM_033380.3(COL4A5):c.547-1G>A
|
rs104886431
|
|
NM_033380.3(COL4A5):c.585del (p.Pro197fs)
|
|
|
NM_033380.3(COL4A5):c.58_65del (p.Trp20fs)
|
rs2147448022
|
|
NM_033380.3(COL4A5):c.602G>A (p.Gly201Asp)
|
rs104886062
|
|
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg)
|
rs1569490379
|
|
NM_033380.3(COL4A5):c.629G>A (p.Gly210Glu)
|
|
|
NM_033380.3(COL4A5):c.643A>T (p.Lys215Ter)
|
|
|
NM_033380.3(COL4A5):c.646-2A>G
|
|
|
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)
|
rs104886074
|
|
NM_033380.3(COL4A5):c.659T>G (p.Leu220Ter)
|
rs2066183255
|
|
NM_033380.3(COL4A5):c.65_77del (p.Gln22fs)
|
rs281874760
|
|
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys)
|
rs281874761
|
|
NM_033380.3(COL4A5):c.67_81+1del
|
rs2147448071
|
|
NM_033380.3(COL4A5):c.687+1G>C
|
rs104886440
|
|
NM_033380.3(COL4A5):c.689G>A (p.Gly230Asp)
|
rs281874763
|
|
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val)
|
rs281874763
|
|
NM_033380.3(COL4A5):c.760G>T (p.Glu254Ter)
|
|
|
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs)
|
rs104886443
|
|
NM_033380.3(COL4A5):c.781-2A>G
|
rs1556406736
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_033380.3(COL4A5):c.834+1G>A
|
rs104886446
|
|
NM_033380.3(COL4A5):c.834+1G>C
|
rs104886446
|
|
NM_033380.3(COL4A5):c.848del (p.Gly283fs)
|
rs2147776565
|
|
NM_033380.3(COL4A5):c.858_859del (p.Lys288fs)
|
rs2147776596
|
|
NM_033380.3(COL4A5):c.868G>T (p.Glu290Ter)
|
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.891+1G>A
|
rs104886451
|
|
NM_033380.3(COL4A5):c.891+1G>T
|
rs104886451
|
|
NM_033380.3(COL4A5):c.891+2T>A
|
rs2147776797
|
|
NM_033380.3(COL4A5):c.892-2A>G
|
rs104886453
|
|
NM_033380.3(COL4A5):c.893G>A (p.Gly298Asp)
|
rs1569491068
|
|
NM_033380.3(COL4A5):c.90T>G (p.Tyr30Ter)
|
rs104886047
|
|
NM_033380.3(COL4A5):c.913G>T (p.Glu305Ter)
|
rs104886081
|
|
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu)
|
rs1556407064
|
|
NM_033380.3(COL4A5):c.937-2A>G
|
|
|
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)
|
rs104886088
|
|
NM_033380.3(COL4A5):c.989del (p.Lys330fs)
|
|
|
NM_033380.3(COL4A5):c.994C>T (p.Gln332Ter)
|
rs2147784271
|
|