ClinVar Miner

List of variants in gene COL4A5 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 348
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.