NM_001845.6(COL4A1):c.1663= (p.Pro555=)
|
rs536174
|
0.99999
|
NM_001845.6(COL4A1):c.616-11G>C
|
rs645114
|
0.84459
|
NM_001845.6(COL4A1):c.3877-9C>T
|
rs589985
|
0.63996
|
NM_001846.4(COL4A2):c.-277A>C
|
rs7989823
|
0.63352
|
NM_001845.6(COL4A1):c.859-10T>C
|
rs677877
|
0.57082
|
NM_001845.6(COL4A1):c.903+18G>A
|
rs482757
|
0.56804
|
NM_001845.6(COL4A1):c.780+7G>A
|
rs598893
|
0.56762
|
NM_001846.4(COL4A2):c.-215C>T
|
rs7990017
|
0.48885
|
NM_001845.6(COL4A1):c.432T>A (p.Ala144=)
|
rs532625
|
0.42890
|
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)
|
rs9515185
|
0.36168
|
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)
|
rs1133219
|
0.35362
|
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=)
|
rs874204
|
0.33827
|
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=)
|
rs874203
|
0.33819
|
NM_001845.6(COL4A1):c.4150+38C>G
|
rs1816884
|
0.33505
|
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=)
|
rs16975492
|
0.32653
|
NM_001846.4(COL4A2):c.-203T>C
|
rs7991332
|
0.31576
|
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=)
|
rs995224
|
0.25994
|
NM_001845.6(COL4A1):c.85-11T>C
|
rs41275104
|
0.22726
|
NM_001846.4(COL4A2):c.-133A>G
|
rs35466678
|
0.15263
|
NM_001845.6(COL4A1):c.4640+7C>T
|
rs2275843
|
0.14797
|
NM_001845.6(COL4A1):c.*587C>A
|
rs13260
|
0.14311
|
NM_001845.6(COL4A1):c.234+8C>T
|
rs9521650
|
0.13807
|
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=)
|
rs650724
|
0.13448
|
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=)
|
rs61749897
|
0.07832
|
NM_001845.5(COL4A1):c.*1404T>C
|
rs56406633
|
0.02412
|
NM_001845.6(COL4A1):c.958-9C>T
|
rs73611465
|
0.02279
|
NM_001845.6(COL4A1):c.1084+5C>G
|
rs74508743
|
0.02118
|
NM_001845.6(COL4A1):c.501C>T (p.Pro167=)
|
rs16975612
|
0.01708
|
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=)
|
rs78426988
|
0.01512
|
NM_001845.6(COL4A1):c.1000-13C>G
|
rs115358624
|
0.01174
|
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=)
|
rs140722653
|
0.00856
|
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=)
|
rs150857429
|
0.00816
|
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=)
|
rs117738194
|
0.00782
|
NM_001845.6(COL4A1):c.4640+8G>A
|
rs117566874
|
0.00671
|
NM_001845.6(COL4A1):c.1121-18G>A
|
rs139885514
|
0.00644
|
NM_001845.6(COL4A1):c.393G>A (p.Glu131=)
|
rs34458255
|
0.00546
|
NM_001845.6(COL4A1):c.3949+10C>T
|
rs188122235
|
0.00488
|
NM_001845.6(COL4A1):c.*975A>C
|
rs28362515
|
0.00280
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_001845.6(COL4A1):c.*176A>G
|
rs11545877
|
0.00235
|
NM_001845.6(COL4A1):c.-103G>A
|
rs538721412
|
0.00227
|
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)
|
rs115834242
|
0.00215
|
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)
|
rs140210015
|
0.00194
|
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)
|
rs41275090
|
0.00180
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
NM_001845.6(COL4A1):c.1466-6C>T
|
rs183563055
|
0.00149
|
NM_001845.6(COL4A1):c.3877-8G>A
|
rs370539477
|
0.00124
|
NM_001845.6(COL4A1):c.*1014C>T
|
rs139916479
|
0.00121
|
NM_001845.6(COL4A1):c.904-9C>T
|
rs201481886
|
0.00116
|
NM_001845.6(COL4A1):c.3506-7C>G
|
rs377592935
|
0.00105
|
NM_001845.6(COL4A1):c.651+4_651+5insCAC
|
rs760194800
|
0.00087
|
NM_001846.4(COL4A2):c.-101G>A
|
rs528084465
|
0.00084
|
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu)
|
rs146950993
|
0.00076
|
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr)
|
rs200734000
|
0.00061
|
NM_001845.6(COL4A1):c.957+7G>A
|
rs58908343
|
0.00057
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
NM_001845.6(COL4A1):c.690C>T (p.Asp230=)
|
rs149688210
|
0.00049
|
NM_001845.6(COL4A1):c.3198+10G>A
|
rs202002553
|
0.00048
|
NM_001845.6(COL4A1):c.708C>G (p.Val236=)
|
rs139523466
|
0.00048
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_001845.6(COL4A1):c.633C>T (p.Pro211=)
|
rs144773264
|
0.00041
|
NM_001845.6(COL4A1):c.1084+19T>C
|
rs542492789
|
0.00039
|
NM_001845.6(COL4A1):c.*609T>C
|
rs189966143
|
0.00036
|
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)
|
rs139578640
|
0.00034
|
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=)
|
rs151186561
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=)
|
rs2305082
|
0.00030
|
NM_001845.6(COL4A1):c.387+14C>T
|
rs190238481
|
0.00030
|
NM_001845.6(COL4A1):c.477A>T (p.Pro159=)
|
rs141067230
|
0.00029
|
NM_001845.6(COL4A1):c.-13C>G
|
rs60069761
|
0.00026
|
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)
|
rs145645897
|
0.00025
|
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)
|
rs150129180
|
0.00025
|
NM_001845.6(COL4A1):c.3742+14G>A
|
rs377503687
|
0.00025
|
NM_001845.6(COL4A1):c.388-11T>C
|
rs201801894
|
0.00024
|
NM_001845.6(COL4A1):c.831A>G (p.Lys277=)
|
rs140978802
|
0.00024
|
NM_001845.6(COL4A1):c.553-8C>T
|
rs199534388
|
0.00022
|
NM_001845.6(COL4A1):c.781-12G>A
|
rs202198648
|
0.00022
|
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg)
|
rs375318302
|
0.00021
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00021
|
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)
|
rs377122126
|
0.00020
|
NM_001845.6(COL4A1):c.4250-12C>T
|
rs202055679
|
0.00020
|
NM_001845.6(COL4A1):c.*137G>A
|
rs886049956
|
0.00019
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
NM_001845.6(COL4A1):c.4756-22_4756-5dup
|
rs778511113
|
0.00017
|
NM_001845.6(COL4A1):c.958-4del
|
rs773018457
|
0.00017
|
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=)
|
rs372343245
|
0.00016
|
NM_001845.6(COL4A1):c.4463-15T>C
|
rs573385917
|
0.00016
|
NM_001845.6(COL4A1):c.807+3C>T
|
rs192723236
|
0.00015
|
NM_001845.6(COL4A1):c.*477G>T
|
rs886049955
|
0.00014
|
NM_001845.6(COL4A1):c.*995C>T
|
rs769502575
|
0.00014
|
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu)
|
rs142177702
|
0.00014
|
NM_001845.6(COL4A1):c.4151-20T>C
|
rs112561721
|
0.00014
|
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)
|
rs142326550
|
0.00014
|
NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val)
|
rs373712845
|
0.00012
|
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=)
|
rs140440365
|
0.00012
|
NM_001845.6(COL4A1):c.2968+12A>G
|
rs752476229
|
0.00012
|
NM_001845.6(COL4A1):c.606C>T (p.Thr202=)
|
rs754333091
|
0.00012
|
NM_001845.6(COL4A1):c.-71C>G
|
rs867117624
|
0.00011
|
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=)
|
rs202093478
|
0.00011
|
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)
|
rs781133776
|
0.00011
|
NM_001845.6(COL4A1):c.280-12C>T
|
rs200121908
|
0.00010
|
NM_001845.6(COL4A1):c.*265A>G
|
rs555157539
|
0.00009
|
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
|
rs374930028
|
0.00009
|
NM_001845.6(COL4A1):c.280-11C>T
|
rs377299204
|
0.00009
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)
|
rs145018661
|
0.00009
|
NM_001845.6(COL4A1):c.3742+14dup
|
rs761797795
|
0.00009
|
NM_001845.6(COL4A1):c.405C>T (p.Leu135=)
|
rs138888319
|
0.00009
|
NM_001845.6(COL4A1):c.4150+3G>A
|
rs545498227
|
0.00009
|
NM_001845.6(COL4A1):c.2869+6T>C
|
rs557198622
|
0.00008
|
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=)
|
rs377765047
|
0.00008
|
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)
|
rs199586038
|
0.00008
|
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg)
|
rs144171664
|
0.00008
|
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)
|
rs775563545
|
0.00007
|
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)
|
rs376607450
|
0.00007
|
NM_001845.6(COL4A1):c.4449T>C (p.His1483=)
|
rs777962282
|
0.00007
|
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val)
|
rs201150281
|
0.00007
|
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=)
|
rs200290773
|
0.00007
|
NM_001845.6(COL4A1):c.*766G>A
|
rs371130027
|
0.00006
|
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln)
|
rs376673751
|
0.00006
|
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)
|
rs372803920
|
0.00006
|
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=)
|
rs142883141
|
0.00006
|
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)
|
rs375787099
|
0.00006
|
NM_001845.6(COL4A1):c.324+20T>C
|
rs764072918
|
0.00006
|
NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=)
|
rs145903540
|
0.00006
|
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=)
|
rs377100994
|
0.00006
|
NM_001845.6(COL4A1):c.*433T>G
|
rs1051748243
|
0.00005
|
NM_001845.6(COL4A1):c.234+9G>A
|
rs374115295
|
0.00005
|
NM_001845.6(COL4A1):c.2716+16A>G
|
rs767749066
|
0.00005
|
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=)
|
rs368143409
|
0.00004
|
NM_001845.6(COL4A1):c.1366G>A (p.Glu456Lys)
|
rs570739274
|
0.00004
|
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)
|
rs757163211
|
0.00004
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=)
|
rs561116319
|
0.00004
|
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser)
|
rs779350720
|
0.00004
|
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=)
|
rs188620231
|
0.00004
|
NM_001845.6(COL4A1):c.3743-15C>T
|
rs375583789
|
0.00004
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00004
|
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)
|
rs189728415
|
0.00004
|
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=)
|
rs372556002
|
0.00004
|
NM_001845.6(COL4A1):c.441C>T (p.Pro147=)
|
rs201812821
|
0.00004
|
NM_001845.6(COL4A1):c.858+4A>T
|
rs916106593
|
0.00004
|
NM_001845.6(COL4A1):c.*1099G>A
|
rs193065628
|
0.00003
|
NM_001845.6(COL4A1):c.*530A>G
|
rs967749737
|
0.00003
|
NM_001845.6(COL4A1):c.*838T>C
|
rs143486029
|
0.00003
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)
|
rs576636085
|
0.00003
|
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp)
|
rs369960952
|
0.00003
|
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala)
|
rs769408707
|
0.00003
|
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)
|
rs778390847
|
0.00003
|
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)
|
rs750620293
|
0.00003
|
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=)
|
rs144401828
|
0.00003
|
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp)
|
rs368949397
|
0.00003
|
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)
|
rs769021800
|
0.00003
|
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)
|
rs540983592
|
0.00003
|
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr)
|
rs778175625
|
0.00003
|
NM_001845.6(COL4A1):c.4929-9G>A
|
rs756038842
|
0.00003
|
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)
|
rs150182714
|
0.00003
|
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)
|
rs531373470
|
0.00002
|
NM_001845.6(COL4A1):c.1381+8A>G
|
rs1054421900
|
0.00002
|
NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala)
|
rs747214508
|
0.00002
|
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)
|
rs773778552
|
0.00002
|
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=)
|
rs576690537
|
0.00002
|
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)
|
rs747585517
|
0.00002
|
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly)
|
rs756221734
|
0.00002
|
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys)
|
rs751220553
|
0.00002
|
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=)
|
rs755340790
|
0.00002
|
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=)
|
rs750538499
|
0.00002
|
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=)
|
rs376513801
|
0.00002
|
NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser)
|
rs778680549
|
0.00002
|
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser)
|
rs373131870
|
0.00002
|
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=)
|
rs779198670
|
0.00002
|
NM_001845.6(COL4A1):c.4929-10C>T
|
rs369534245
|
0.00002
|
NM_001845.6(COL4A1):c.532C>T (p.Pro178Ser)
|
rs777678272
|
0.00002
|
NM_001845.6(COL4A1):c.957+6C>T
|
rs754165294
|
0.00002
|
NM_001845.6(COL4A1):c.*1039A>G
|
rs776016334
|
0.00001
|
NM_001845.6(COL4A1):c.*6C>G
|
rs762512053
|
0.00001
|
NM_001845.6(COL4A1):c.-101G>T
|
rs1884771928
|
0.00001
|
NM_001845.6(COL4A1):c.-20G>T
|
rs886049965
|
0.00001
|
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)
|
rs755483519
|
0.00001
|
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg)
|
rs750386918
|
0.00001
|
NM_001845.6(COL4A1):c.145-5T>C
|
rs749251030
|
0.00001
|
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=)
|
rs1878700909
|
0.00001
|
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=)
|
rs749215704
|
0.00001
|
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr)
|
rs1878441079
|
0.00001
|
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val)
|
rs200252122
|
0.00001
|
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)
|
rs375477517
|
0.00001
|
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=)
|
rs765423555
|
0.00001
|
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)
|
rs760462654
|
0.00001
|
NM_001845.6(COL4A1):c.2095+7C>G
|
rs886049961
|
0.00001
|
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg)
|
rs527530568
|
0.00001
|
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe)
|
rs755499333
|
0.00001
|
NM_001845.6(COL4A1):c.234+7A>G
|
rs1339538900
|
0.00001
|
NM_001845.6(COL4A1):c.2344+11G>A
|
rs886049960
|
0.00001
|
NM_001845.6(COL4A1):c.2344+12C>A
|
rs373696600
|
0.00001
|
NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu)
|
rs1351737168
|
0.00001
|
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=)
|
rs773443475
|
0.00001
|
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser)
|
rs1055161168
|
0.00001
|
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)
|
rs754208625
|
0.00001
|
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)
|
rs778143775
|
0.00001
|
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=)
|
rs200504781
|
0.00001
|
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=)
|
rs149543327
|
0.00001
|
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)
|
rs758076661
|
0.00001
|
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)
|
rs1877827904
|
0.00001
|
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln)
|
rs755532903
|
0.00001
|
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser)
|
rs780691085
|
0.00001
|
NM_001845.6(COL4A1):c.324+16G>A
|
rs770236988
|
0.00001
|
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val)
|
rs757670001
|
0.00001
|
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile)
|
rs774198019
|
0.00001
|
NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=)
|
rs182418518
|
0.00001
|
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His)
|
rs146598127
|
0.00001
|
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser)
|
rs148290885
|
0.00001
|
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala)
|
rs1357289362
|
0.00001
|
NM_001845.6(COL4A1):c.4249+9C>T
|
rs186028417
|
0.00001
|
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)
|
rs760889798
|
0.00001
|
NM_001845.6(COL4A1):c.4462+3A>G
|
rs201116557
|
0.00001
|
NM_001845.6(COL4A1):c.4462+8G>A
|
rs752734207
|
0.00001
|
NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=)
|
rs773639086
|
0.00001
|
NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=)
|
rs552846696
|
0.00001
|
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)
|
rs747250117
|
0.00001
|
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His)
|
rs756403856
|
0.00001
|
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)
|
rs139917163
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_001845.6(COL4A1):c.808-13T>G
|
rs529629733
|
0.00001
|
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg)
|
rs370338256
|
0.00001
|
NM_001845.6(COL4A1):c.*510A>G
|
rs886049954
|
|
NM_001845.6(COL4A1):c.*531T>A
|
rs886049953
|
|
NM_001845.6(COL4A1):c.*634AT[8]
|
rs886049952
|
|
NM_001845.6(COL4A1):c.*887del
|
rs886049951
|
|
NM_001845.6(COL4A1):c.*952A>G
|
rs1876400313
|
|
NM_001845.6(COL4A1):c.-90G>A
|
rs113651836
|
|
NM_001845.6(COL4A1):c.-90G>T
|
rs113651836
|
|
NM_001845.6(COL4A1):c.1084+20C>T
|
rs756740376
|
|
NM_001845.6(COL4A1):c.1286-18_1286-17del
|
rs769629668
|
|
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg)
|
rs1461754052
|
|
NM_001845.6(COL4A1):c.1465G>A (p.Gly489Ser)
|
|
|
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg)
|
rs267606744
|
|
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val)
|
rs113994104
|
|
NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp)
|
rs2139179173
|
|
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg)
|
rs267606743
|
|
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)
|
rs113994105
|
|
NM_001845.6(COL4A1):c.1573G>A (p.Gly525Arg)
|
|
|
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu)
|
rs281865426
|
|
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu)
|
rs113994106
|
|
NM_001845.6(COL4A1):c.1591G>C (p.Gly531Arg)
|
|
|
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=)
|
rs139448202
|
|
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp)
|
rs397514624
|
|
NM_001845.6(COL4A1):c.1717A>C (p.Lys573Gln)
|
rs1006335866
|
|
NM_001845.6(COL4A1):c.1728+2T>C
|
|
|
NM_001845.6(COL4A1):c.1793G>T (p.Gly598Val)
|
rs1878411691
|
|
NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg)
|
rs1594560766
|
|
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)
|
rs146091004
|
|
NM_001845.6(COL4A1):c.1937del (p.Gly646fs)
|
rs1878257364
|
|
NM_001845.6(COL4A1):c.1947_1959del (p.Ala650fs)
|
|
|
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=)
|
rs1391929875
|
|
NM_001845.6(COL4A1):c.2075C>G (p.Pro692Arg)
|
rs1566356383
|
|
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)
|
rs1555303720
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg)
|
rs1878139161
|
|
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)
|
rs1057523354
|
|
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)
|
rs672601346
|
|
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg)
|
rs764059421
|
|
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)
|
rs672601347
|
|
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=)
|
rs2139164290
|
|
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg)
|
rs776874008
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.2717G>C (p.Gly906Ala)
|
rs2139163150
|
|
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly)
|
rs1188217302
|
|
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=)
|
rs886049959
|
|
NM_001845.6(COL4A1):c.3068G>C (p.Gly1023Ala)
|
rs1877834934
|
|
NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser)
|
rs1877832657
|
|
NM_001845.6(COL4A1):c.3198+9C>A
|
rs112120233
|
|
NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys)
|
rs1877800291
|
|
NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu)
|
rs886049958
|
|
NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=)
|
rs752732736
|
|
NM_001845.6(COL4A1):c.3326-13dup
|
rs139122216
|
|
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu)
|
rs1566349683
|
|
NM_001845.6(COL4A1):c.3406G>A (p.Gly1136Ser)
|
rs1877783774
|
|
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
|
|
|
NM_001845.6(COL4A1):c.354C>T (p.Gly118=)
|
rs1879852432
|
|
NM_001845.6(COL4A1):c.3557-14T>C
|
rs886049957
|
|
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val)
|
rs886049963
|
|
NM_001845.6(COL4A1):c.3934G>A (p.Val1312Ile)
|
|
|
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)
|
rs535848796
|
|
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)
|
rs3742207
|
|
NM_001845.6(COL4A1):c.4020dup (p.Gly1341fs)
|
|
|
NM_001845.6(COL4A1):c.4021+14T>A
|
rs755709828
|
|
NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp)
|
rs1877185960
|
|
NM_001845.6(COL4A1):c.4250-1G>A
|
rs2139146298
|
|
NM_001845.6(COL4A1):c.4357C>T (p.Gln1453Ter)
|
rs2139146179
|
|
NM_001845.6(COL4A1):c.4550A>G (p.Asn1517Ser)
|
|
|
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)
|
rs1343193102
|
|
NM_001845.6(COL4A1):c.468+5ATTTT[2]
|
rs3832900
|
|
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=)
|
rs1339688171
|
|
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=)
|
rs146638269
|
|
NM_001845.6(COL4A1):c.4925T>A (p.Phe1642Tyr)
|
rs1271389791
|
|
NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg)
|
rs1876538166
|
|
NM_001845.6(COL4A1):c.494A>G (p.His165Arg)
|
rs200805263
|
|
NM_001845.6(COL4A1):c.495T>A (p.His165Gln)
|
rs762125888
|
|
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys)
|
rs377350886
|
|
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del)
|
rs1294802953
|
|
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala)
|
rs886049962
|
|
NM_001845.6(COL4A1):c.808-7C>A
|
rs9588116
|
|
NM_001845.6(COL4A1):c.808-7C>G
|
rs9588116
|
|
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu)
|
rs886049964
|
|
NM_001845.6(COL4A1):c.921dup (p.Gly308fs)
|
rs1594579579
|
|
NM_001845.6(COL4A1):c.958-10T>C
|
rs766495795
|
|
NM_001845.6:c.(4755+1_4756-1)_(4928+1_4929-1)del
|
|
|
NM_001846.4(COL4A2):c.-232C>G
|
rs7990009
|
|
NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter)
|
rs369027010
|
|