NM_001846.4(COL4A2):c.4083T>C (p.Thr1361=)
|
rs438758
|
0.98496
|
NM_001846.4(COL4A2):c.3807T>C (p.Gly1269=)
|
rs409858
|
0.94356
|
NM_001846.4(COL4A2):c.3804T>A (p.Pro1268=)
|
rs439831
|
0.94355
|
NM_001846.4(COL4A2):c.4290C>T (p.Phe1430=)
|
rs4771683
|
0.94122
|
NM_001846.4(COL4A2):c.297G>A (p.Thr99=)
|
rs4238272
|
0.93420
|
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=)
|
rs445348
|
0.84408
|
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys)
|
rs7990383
|
0.59592
|
NM_001846.4(COL4A2):c.1777-7C>T
|
rs3803236
|
0.58770
|
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=)
|
rs7990214
|
0.58092
|
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=)
|
rs4103
|
0.48817
|
NM_001846.4(COL4A2):c.2587+8C>T
|
rs2281974
|
0.38939
|
NM_001846.4(COL4A2):c.4040-19C>T
|
rs4773198
|
0.37621
|
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=)
|
rs74941798
|
0.30311
|
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=)
|
rs76425569
|
0.28294
|
NM_001846.4(COL4A2):c.181-27458T>C
|
rs9515203
|
0.26315
|
NM_001846.4(COL4A2):c.2588-11C>T
|
rs9521803
|
0.25564
|
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser)
|
rs9583500
|
0.23344
|
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=)
|
rs4773199
|
0.23132
|
NM_001846.4(COL4A2):c.1776+20G>A
|
rs7992330
|
0.22880
|
NM_001846.4(COL4A2):c.2759-5T>C
|
rs3803228
|
0.18857
|
NM_001846.4(COL4A2):c.2903-12A>G
|
rs2296853
|
0.13866
|
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala)
|
rs3803230
|
0.10158
|
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=)
|
rs391859
|
0.09357
|
NM_001846.4(COL4A2):c.912+9C>T
|
rs7983979
|
0.08329
|
NM_001846.4(COL4A2):c.3634+4C>T
|
rs2274544
|
0.07052
|
NM_001846.4(COL4A2):c.3455-5C>G
|
rs2296849
|
0.05942
|
NM_001846.4(COL4A2):c.3272-20G>A
|
rs41275118
|
0.05260
|
NM_001846.4(COL4A2):c.549+15G>C
|
rs74124318
|
0.03560
|
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile)
|
rs45520539
|
0.03076
|
NM_001846.4(COL4A2):c.594C>T (p.Pro198=)
|
rs74124319
|
0.02997
|
NM_001846.4(COL4A2):c.315+19T>C
|
rs74967960
|
0.02658
|
NM_001846.4(COL4A2):c.315+14G>T
|
rs78713113
|
0.02155
|
NM_001846.4(COL4A2):c.649-16C>T
|
rs56269522
|
0.01248
|
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)
|
rs117412802
|
0.01005
|
NM_001846.4(COL4A2):c.732C>T (p.Asp244=)
|
rs144319016
|
0.00870
|
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)
|
rs62621875
|
0.00869
|
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg)
|
rs78829338
|
0.00822
|
NM_001846.4(COL4A2):c.1308C>T (p.Pro436=)
|
rs78615289
|
0.00806
|
NM_001846.4(COL4A2):c.888A>G (p.Gly296=)
|
rs114482753
|
0.00777
|
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe)
|
rs62621885
|
0.00695
|
NM_001846.4(COL4A2):c.1011G>A (p.Lys337=)
|
rs147765396
|
0.00683
|
NM_001846.4(COL4A2):c.3634+13G>A
|
rs188658233
|
0.00491
|
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys)
|
rs112262533
|
0.00490
|
NM_001846.4(COL4A2):c.1979-6C>T
|
rs190632602
|
0.00465
|
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=)
|
rs115373326
|
0.00459
|
NM_001846.4(COL4A2):c.4882-7T>C
|
rs116548600
|
0.00448
|
NM_001846.4(COL4A2):c.4882-15C>T
|
rs114427900
|
0.00447
|
NM_001846.4(COL4A2):c.4776G>T (p.Val1592=)
|
rs59395531
|
0.00387
|
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln)
|
rs184812559
|
0.00356
|
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=)
|
rs7320105
|
0.00302
|
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=)
|
rs148837052
|
0.00297
|
NM_001846.4(COL4A2):c.1669+5G>C
|
rs147210424
|
0.00252
|
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser)
|
rs143710874
|
0.00230
|
NM_001846.4(COL4A2):c.3634+12C>T
|
rs148069014
|
0.00210
|
NM_001846.4(COL4A2):c.316-17dup
|
rs201980714
|
0.00181
|
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr)
|
rs202017641
|
0.00179
|
NM_001846.4(COL4A2):c.576C>T (p.Val192=)
|
rs190117538
|
0.00175
|
NM_001846.4(COL4A2):c.4400A>C (p.Glu1467Ala)
|
rs202207552
|
0.00172
|
NM_001846.4(COL4A2):c.3871C>T (p.Leu1291=)
|
rs140883685
|
0.00163
|
NM_001846.4(COL4A2):c.1189+19A>G
|
rs368321322
|
0.00161
|
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)
|
rs200735885
|
0.00161
|
NM_001846.4(COL4A2):c.3454+13G>A
|
rs200830236
|
0.00155
|
NM_001846.4(COL4A2):c.3346+7A>G
|
rs201020737
|
0.00153
|
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=)
|
rs181706751
|
0.00151
|
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr)
|
rs201105747
|
0.00151
|
NM_001846.4(COL4A2):c.3025+17G>A
|
rs185903591
|
0.00145
|
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg)
|
rs201627758
|
0.00138
|
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=)
|
rs186888528
|
0.00131
|
NM_001846.4(COL4A2):c.2244C>T (p.Leu748=)
|
rs375548321
|
0.00125
|
NM_001846.4(COL4A2):c.3042A>C (p.Pro1014=)
|
rs200384476
|
0.00120
|
NM_001846.4(COL4A2):c.181-18C>A
|
rs200140203
|
0.00099
|
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=)
|
rs201762977
|
0.00095
|
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=)
|
rs148709279
|
0.00091
|
NM_001846.4(COL4A2):c.315+4C>T
|
rs145900757
|
0.00091
|
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=)
|
rs372424
|
0.00089
|
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=)
|
rs201956616
|
0.00088
|
NM_001846.4(COL4A2):c.385A>G (p.Arg129Gly)
|
rs376759822
|
0.00071
|
NM_001846.4(COL4A2):c.3883C>T (p.Arg1295Trp)
|
rs187526694
|
0.00068
|
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr)
|
rs191708663
|
0.00059
|
NM_001846.4(COL4A2):c.2172C>T (p.Asp724=)
|
rs375427719
|
0.00046
|
NM_001846.4(COL4A2):c.3478C>T (p.Pro1160Ser)
|
rs200189899
|
0.00044
|
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg)
|
rs192250572
|
0.00043
|
NM_001846.4(COL4A2):c.181-16T>C
|
rs370926553
|
0.00043
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_001846.4(COL4A2):c.3569C>T (p.Pro1190Leu)
|
rs199782906
|
0.00039
|
NM_001846.4(COL4A2):c.1532C>T (p.Pro511Leu)
|
rs373398289
|
0.00037
|
NM_001846.4(COL4A2):c.3126C>T (p.Pro1042=)
|
rs367815675
|
0.00034
|
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val)
|
rs531809013
|
0.00032
|
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=)
|
rs201510187
|
0.00032
|
NM_001846.4(COL4A2):c.2039-3C>T
|
rs202208839
|
0.00029
|
NM_001846.4(COL4A2):c.99+4A>G
|
rs200428476
|
0.00029
|
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=)
|
rs371857202
|
0.00027
|
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu)
|
rs77786415
|
0.00024
|
NM_001846.4(COL4A2):c.608A>T (p.His203Leu)
|
rs201716258
|
0.00024
|
NM_001846.4(COL4A2):c.5085C>T (p.Ala1695=)
|
rs150809854
|
0.00021
|
NM_001846.4(COL4A2):c.4464C>T (p.Ile1488=)
|
rs149928079
|
0.00020
|
NM_001846.4(COL4A2):c.669A>G (p.Gly223=)
|
rs192660147
|
0.00020
|
NM_001846.4(COL4A2):c.2865C>T (p.Pro955=)
|
rs746902322
|
0.00017
|
NM_001846.4(COL4A2):c.1365A>G (p.Ala455=)
|
rs375636262
|
0.00016
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
NM_001846.4(COL4A2):c.3135C>T (p.Pro1045=)
|
rs187735087
|
0.00016
|
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val)
|
rs370679299
|
0.00016
|
NM_001846.4(COL4A2):c.328G>A (p.Val110Ile)
|
rs537746077
|
0.00014
|
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro)
|
rs756772866
|
0.00014
|
NM_001846.4(COL4A2):c.3988G>A (p.Asp1330Asn)
|
rs370540848
|
0.00013
|
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)
|
rs558814304
|
0.00013
|
NM_001846.4(COL4A2):c.3346+5G>A
|
rs373295648
|
0.00012
|
NM_001846.4(COL4A2):c.3503G>A (p.Arg1168Gln)
|
rs369072485
|
0.00012
|
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His)
|
rs200192119
|
0.00012
|
NM_001846.4(COL4A2):c.143G>T (p.Ser48Ile)
|
rs1053256164
|
0.00011
|
NM_001846.4(COL4A2):c.1978+10A>G
|
rs766115921
|
0.00011
|
NM_001846.4(COL4A2):c.1978+4T>C
|
rs372577230
|
0.00011
|
NM_001846.4(COL4A2):c.4437G>A (p.Pro1479=)
|
rs187904842
|
0.00011
|
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile)
|
rs201426733
|
0.00011
|
NM_001846.4(COL4A2):c.4494G>A (p.Thr1498=)
|
rs531949779
|
0.00011
|
NM_001846.4(COL4A2):c.684+8G>A
|
rs200682990
|
0.00011
|
NM_001846.4(COL4A2):c.783C>A (p.Ile261=)
|
rs369814411
|
0.00011
|
NM_001846.4(COL4A2):c.445C>G (p.Pro149Ala)
|
rs548601003
|
0.00010
|
NM_001846.4(COL4A2):c.100-18T>C
|
rs368216378
|
0.00009
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
NM_001846.4(COL4A2):c.1257G>A (p.Ala419=)
|
rs777564732
|
0.00009
|
NM_001846.4(COL4A2):c.1748A>G (p.Asp583Gly)
|
rs368207474
|
0.00009
|
NM_001846.4(COL4A2):c.3635-4A>C
|
rs536636278
|
0.00009
|
NM_001846.4(COL4A2):c.3877+15T>C
|
rs776257940
|
0.00009
|
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=)
|
rs72659607
|
0.00009
|
NM_001846.4(COL4A2):c.478-18A>G
|
rs753463828
|
0.00009
|
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=)
|
rs199809827
|
0.00009
|
NM_001846.4(COL4A2):c.538G>A (p.Asp180Asn)
|
rs568655744
|
0.00009
|
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser)
|
rs761169216
|
0.00008
|
NM_001846.4(COL4A2):c.3246C>T (p.Gly1082=)
|
rs373937864
|
0.00008
|
NM_001846.4(COL4A2):c.3256G>A (p.Ala1086Thr)
|
rs368382267
|
0.00008
|
NM_001846.4(COL4A2):c.3856C>T (p.Pro1286Ser)
|
rs75571926
|
0.00008
|
NM_001846.4(COL4A2):c.4286-12G>A
|
rs553663121
|
0.00008
|
NM_001846.4(COL4A2):c.4403-10C>T
|
rs974483781
|
0.00008
|
NM_001846.4(COL4A2):c.2274C>T (p.Ile758=)
|
rs760926154
|
0.00007
|
NM_001846.4(COL4A2):c.4436C>T (p.Pro1479Leu)
|
rs377115391
|
0.00007
|
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg)
|
rs200314049
|
0.00007
|
NM_001846.4(COL4A2):c.4673C>T (p.Ala1558Val)
|
rs374790851
|
0.00007
|
NM_001846.4(COL4A2):c.1395C>T (p.Pro465=)
|
rs201543646
|
0.00006
|
NM_001846.4(COL4A2):c.1465G>A (p.Asp489Asn)
|
rs777186602
|
0.00006
|
NM_001846.4(COL4A2):c.1945C>T (p.Pro649Ser)
|
rs370641410
|
0.00006
|
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr)
|
rs199875726
|
0.00006
|
NM_001846.4(COL4A2):c.2180G>A (p.Arg727His)
|
rs774443437
|
0.00006
|
NM_001846.4(COL4A2):c.2331G>A (p.Leu777=)
|
rs369620826
|
0.00006
|
NM_001846.4(COL4A2):c.242C>T (p.Pro81Leu)
|
rs750061237
|
0.00006
|
NM_001846.4(COL4A2):c.2748C>T (p.Pro916=)
|
rs371759473
|
0.00006
|
NM_001846.4(COL4A2):c.3180G>A (p.Thr1060=)
|
rs745985712
|
0.00006
|
NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=)
|
rs267603756
|
0.00006
|
NM_001846.4(COL4A2):c.331T>G (p.Ser111Ala)
|
rs769112358
|
0.00006
|
NM_001846.4(COL4A2):c.4355G>A (p.Arg1452Gln)
|
rs766357778
|
0.00006
|
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=)
|
rs368443057
|
0.00006
|
NM_001846.4(COL4A2):c.4712C>T (p.Ala1571Val)
|
rs201300563
|
0.00006
|
NM_001846.4(COL4A2):c.648+13A>G
|
rs375316442
|
0.00006
|
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=)
|
rs775257372
|
0.00006
|
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln)
|
rs201640075
|
0.00006
|
NM_001846.4(COL4A2):c.1190-17A>C
|
rs372633566
|
0.00005
|
NM_001846.4(COL4A2):c.1324C>T (p.Pro442Ser)
|
rs764002137
|
0.00005
|
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=)
|
rs374972536
|
0.00005
|
NM_001846.4(COL4A2):c.2038+9G>T
|
rs779062064
|
0.00005
|
NM_001846.4(COL4A2):c.2587+5G>C
|
rs756405925
|
0.00005
|
NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu)
|
rs749501904
|
0.00005
|
NM_001846.4(COL4A2):c.3018C>T (p.Gly1006=)
|
rs761092114
|
0.00005
|
NM_001846.4(COL4A2):c.395C>T (p.Pro132Leu)
|
rs199561972
|
0.00005
|
NM_001846.4(COL4A2):c.1020C>T (p.Ala340=)
|
rs539880947
|
0.00004
|
NM_001846.4(COL4A2):c.1078+12A>G
|
rs1473673298
|
0.00004
|
NM_001846.4(COL4A2):c.1500A>T (p.Gly500=)
|
rs144654464
|
0.00004
|
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr)
|
rs753867828
|
0.00004
|
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser)
|
rs773783775
|
0.00004
|
NM_001846.4(COL4A2):c.1720G>A (p.Asp574Asn)
|
rs751105211
|
0.00004
|
NM_001846.4(COL4A2):c.1758C>T (p.Pro586=)
|
rs765662785
|
0.00004
|
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg)
|
rs201676472
|
0.00004
|
NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val)
|
rs761867026
|
0.00004
|
NM_001846.4(COL4A2):c.2395C>T (p.Pro799Ser)
|
rs376694121
|
0.00004
|
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=)
|
rs764978267
|
0.00004
|
NM_001846.4(COL4A2):c.2581C>T (p.Arg861Cys)
|
rs751658527
|
0.00004
|
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys)
|
rs199678709
|
0.00004
|
NM_001846.4(COL4A2):c.3030C>A (p.Ile1010=)
|
rs752487484
|
0.00004
|
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp)
|
rs375813265
|
0.00004
|
NM_001846.4(COL4A2):c.4138+11G>A
|
rs763492467
|
0.00004
|
NM_001846.4(COL4A2):c.4247C>T (p.Pro1416Leu)
|
rs776279146
|
0.00004
|
NM_001846.4(COL4A2):c.4275C>T (p.Pro1425=)
|
rs529617799
|
0.00004
|
NM_001846.4(COL4A2):c.4296G>A (p.Gly1432=)
|
rs377266231
|
0.00004
|
NM_001846.4(COL4A2):c.4881+11T>C
|
rs370209795
|
0.00004
|
NM_001846.4(COL4A2):c.5033C>T (p.Thr1678Ile)
|
rs201647127
|
0.00004
|
NM_001846.4(COL4A2):c.744G>A (p.Pro248=)
|
rs776546128
|
0.00004
|
NM_001846.4(COL4A2):c.861+15G>A
|
rs762275713
|
0.00004
|
NM_001846.4(COL4A2):c.99+16C>T
|
rs200523295
|
0.00004
|
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=)
|
rs757264758
|
0.00003
|
NM_001846.4(COL4A2):c.1560C>T (p.Pro520=)
|
rs369872587
|
0.00003
|
NM_001846.4(COL4A2):c.1596+8G>C
|
rs147871111
|
0.00003
|
NM_001846.4(COL4A2):c.1911C>T (p.Asp637=)
|
rs764883197
|
0.00003
|
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=)
|
rs767050469
|
0.00003
|
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala)
|
rs780116763
|
0.00003
|
NM_001846.4(COL4A2):c.2530C>T (p.Pro844Ser)
|
rs763705148
|
0.00003
|
NM_001846.4(COL4A2):c.3297A>C (p.Leu1099Phe)
|
rs779464248
|
0.00003
|
NM_001846.4(COL4A2):c.3562+20G>A
|
rs375599870
|
0.00003
|
NM_001846.4(COL4A2):c.4305G>A (p.Gly1435=)
|
rs770555680
|
0.00003
|
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu)
|
rs201158095
|
0.00003
|
NM_001846.4(COL4A2):c.4678C>T (p.Arg1560Trp)
|
rs1353098387
|
0.00003
|
NM_001846.4(COL4A2):c.4953C>T (p.Arg1651=)
|
rs773440120
|
0.00003
|
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser)
|
rs373806617
|
0.00003
|
NM_001846.4(COL4A2):c.5042A>G (p.Glu1681Gly)
|
rs777905652
|
0.00003
|
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro)
|
rs909040713
|
0.00002
|
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=)
|
rs781075845
|
0.00002
|
NM_001846.4(COL4A2):c.1914C>T (p.Ala638=)
|
rs779939063
|
0.00002
|
NM_001846.4(COL4A2):c.2039-7T>C
|
rs760622067
|
0.00002
|
NM_001846.4(COL4A2):c.2095+14G>A
|
rs768710957
|
0.00002
|
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg)
|
rs768662646
|
0.00002
|
NM_001846.4(COL4A2):c.2425+15G>A
|
rs768767837
|
0.00002
|
NM_001846.4(COL4A2):c.257G>A (p.Arg86His)
|
rs751272301
|
0.00002
|
NM_001846.4(COL4A2):c.2856C>T (p.Phe952=)
|
rs747574881
|
0.00002
|
NM_001846.4(COL4A2):c.3993C>T (p.Ser1331=)
|
rs754253271
|
0.00002
|
NM_001846.4(COL4A2):c.4268G>C (p.Gly1423Ala)
|
rs759437629
|
0.00002
|
NM_001846.4(COL4A2):c.4347C>T (p.Pro1449=)
|
rs375772742
|
0.00002
|
NM_001846.4(COL4A2):c.4403-8G>A
|
rs1271522986
|
0.00002
|
NM_001846.4(COL4A2):c.4602G>A (p.Ala1534=)
|
rs549661094
|
0.00002
|
NM_001846.4(COL4A2):c.461G>A (p.Gly154Glu)
|
rs375700657
|
0.00002
|
NM_001846.4(COL4A2):c.4744G>A (p.Glu1582Lys)
|
rs376636910
|
0.00002
|
NM_001846.4(COL4A2):c.4788G>A (p.Pro1596=)
|
rs544072830
|
0.00002
|
NM_001846.4(COL4A2):c.4951C>T (p.Arg1651Cys)
|
rs569071842
|
0.00002
|
NM_001846.4(COL4A2):c.5066C>T (p.Ser1689Phe)
|
rs761162868
|
0.00002
|
NM_001846.4(COL4A2):c.5075C>T (p.Thr1692Met)
|
rs759315132
|
0.00002
|
NM_001846.4(COL4A2):c.599G>A (p.Arg200His)
|
rs748422794
|
0.00002
|
NM_001846.4(COL4A2):c.733G>A (p.Val245Ile)
|
rs371879428
|
0.00002
|
NM_001846.4(COL4A2):c.861+7C>T
|
rs745988427
|
0.00002
|
NM_001846.4(COL4A2):c.1012-1G>A
|
rs1224451609
|
0.00001
|
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu)
|
rs746749693
|
0.00001
|
NM_001846.4(COL4A2):c.1135G>A (p.Glu379Lys)
|
rs1178832851
|
0.00001
|
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr)
|
rs746145513
|
0.00001
|
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg)
|
rs779091629
|
0.00001
|
NM_001846.4(COL4A2):c.1290G>A (p.Lys430=)
|
rs1881493972
|
0.00001
|
NM_001846.4(COL4A2):c.1339+14A>G
|
rs368543918
|
0.00001
|
NM_001846.4(COL4A2):c.1407A>G (p.Gly469=)
|
rs1255629613
|
0.00001
|
NM_001846.4(COL4A2):c.1422G>A (p.Lys474=)
|
rs756953202
|
0.00001
|
NM_001846.4(COL4A2):c.1433-6C>T
|
rs1163508947
|
0.00001
|
NM_001846.4(COL4A2):c.1437C>T (p.Asp479=)
|
rs757480095
|
0.00001
|
NM_001846.4(COL4A2):c.1487C>T (p.Pro496Leu)
|
rs570979461
|
0.00001
|
NM_001846.4(COL4A2):c.1557C>T (p.Asp519=)
|
rs781646506
|
0.00001
|
NM_001846.4(COL4A2):c.1597-1G>A
|
rs745376502
|
0.00001
|
NM_001846.4(COL4A2):c.1704C>T (p.Pro568=)
|
rs757638360
|
0.00001
|
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn)
|
rs766981913
|
0.00001
|
NM_001846.4(COL4A2):c.1776+1G>A
|
rs886039602
|
0.00001
|
NM_001846.4(COL4A2):c.1879G>A (p.Gly627Ser)
|
rs771559117
|
0.00001
|
NM_001846.4(COL4A2):c.1912G>A (p.Ala638Thr)
|
rs758260445
|
0.00001
|
NM_001846.4(COL4A2):c.2095+5T>C
|
rs376823280
|
0.00001
|
NM_001846.4(COL4A2):c.2176G>C (p.Gly726Arg)
|
rs770946467
|
0.00001
|
NM_001846.4(COL4A2):c.2590C>T (p.Leu864=)
|
rs903526900
|
0.00001
|
NM_001846.4(COL4A2):c.2705G>C (p.Gly902Ala)
|
rs1388143812
|
0.00001
|
NM_001846.4(COL4A2):c.2781G>A (p.Met927Ile)
|
rs765543373
|
0.00001
|
NM_001846.4(COL4A2):c.2864C>T (p.Pro955Leu)
|
rs775430349
|
0.00001
|
NM_001846.4(COL4A2):c.2902+11C>T
|
rs773477481
|
0.00001
|
NM_001846.4(COL4A2):c.2902+9C>G
|
rs1368028290
|
0.00001
|
NM_001846.4(COL4A2):c.3026-12G>T
|
rs754587598
|
0.00001
|
NM_001846.4(COL4A2):c.313G>A (p.Val105Met)
|
rs772439696
|
0.00001
|
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp)
|
rs200165414
|
0.00001
|
NM_001846.4(COL4A2):c.323G>C (p.Arg108Thr)
|
rs1283852136
|
0.00001
|
NM_001846.4(COL4A2):c.3357A>C (p.Gly1119=)
|
rs768749332
|
0.00001
|
NM_001846.4(COL4A2):c.3431C>T (p.Pro1144Leu)
|
rs1407273074
|
0.00001
|
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser)
|
rs1271683445
|
0.00001
|
NM_001846.4(COL4A2):c.361-11C>G
|
rs532415822
|
0.00001
|
NM_001846.4(COL4A2):c.3689A>G (p.Asp1230Gly)
|
rs1883424275
|
0.00001
|
NM_001846.4(COL4A2):c.3760+5G>A
|
rs1883426997
|
0.00001
|
NM_001846.4(COL4A2):c.3817C>G (p.Pro1273Ala)
|
rs201442362
|
0.00001
|
NM_001846.4(COL4A2):c.4005C>T (p.Gly1335=)
|
rs780571953
|
0.00001
|
NM_001846.4(COL4A2):c.4017G>T (p.Val1339=)
|
rs941312771
|
0.00001
|
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn)
|
rs369865437
|
0.00001
|
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn)
|
rs368612819
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001846.4(COL4A2):c.4167G>A (p.Gly1389=)
|
rs776334302
|
0.00001
|
NM_001846.4(COL4A2):c.4208C>A (p.Thr1403Lys)
|
rs560510434
|
0.00001
|
NM_001846.4(COL4A2):c.4212G>C (p.Val1404=)
|
rs781225627
|
0.00001
|
NM_001846.4(COL4A2):c.450C>T (p.Pro150=)
|
rs775266949
|
0.00001
|
NM_001846.4(COL4A2):c.4679G>A (p.Arg1560Gln)
|
rs1411209661
|
0.00001
|
NM_001846.4(COL4A2):c.468C>T (p.Thr156=)
|
rs765157156
|
0.00001
|
NM_001846.4(COL4A2):c.4738G>A (p.Glu1580Lys)
|
rs767665017
|
0.00001
|
NM_001846.4(COL4A2):c.4864G>A (p.Gly1622Arg)
|
rs541766007
|
0.00001
|
NM_001846.4(COL4A2):c.4890G>A (p.Ala1630=)
|
rs372282008
|
0.00001
|
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser)
|
rs753412782
|
0.00001
|
NM_001846.4(COL4A2):c.4971A>G (p.Glu1657=)
|
rs903859636
|
0.00001
|
NM_001846.4(COL4A2):c.4986C>T (p.Arg1662=)
|
rs769943102
|
0.00001
|
NM_001846.4(COL4A2):c.5076G>A (p.Thr1692=)
|
rs376020578
|
0.00001
|
NM_001846.4(COL4A2):c.5110C>T (p.Arg1704Cys)
|
rs780380833
|
0.00001
|
NM_001846.4(COL4A2):c.535C>T (p.Arg179Cys)
|
rs751015466
|
0.00001
|
NM_001846.4(COL4A2):c.550-15T>C
|
rs367748098
|
0.00001
|
NM_001846.4(COL4A2):c.586-4A>G
|
rs761817376
|
0.00001
|
NM_001846.4(COL4A2):c.610G>A (p.Val204Met)
|
rs959464417
|
0.00001
|
NM_001846.4(COL4A2):c.664C>T (p.Pro222Ser)
|
rs1311495152
|
0.00001
|
NM_001846.4(COL4A2):c.684+14G>C
|
rs138922857
|
0.00001
|
NM_001846.4(COL4A2):c.69C>T (p.Thr23=)
|
rs774171520
|
0.00001
|
NM_001846.4(COL4A2):c.735A>G (p.Val245=)
|
rs1594212819
|
0.00001
|
NM_001846.4(COL4A2):c.756G>A (p.Gly252=)
|
rs766567468
|
0.00001
|
NM_001846.4(COL4A2):c.82G>A (p.Ala28Thr)
|
rs1338618226
|
0.00001
|
NM_001846.4(COL4A2):c.849A>C (p.Glu283Asp)
|
rs1880961913
|
0.00001
|
NM_001846.4(COL4A2):c.99+7C>G
|
rs1167797748
|
0.00001
|
NC_000013.10:g.(?_111098156)_(111111301_?)del
|
|
|
NM_001846.4(COL4A2):c.100-11dup
|
|
|
NM_001846.4(COL4A2):c.100-6T>C
|
|
|
NM_001846.4(COL4A2):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001846.4(COL4A2):c.1011+17T>C
|
|
|
NM_001846.4(COL4A2):c.1011+3G>A
|
|
|
NM_001846.4(COL4A2):c.1011+6C>T
|
rs1881302554
|
|
NM_001846.4(COL4A2):c.1011+8C>T
|
|
|
NM_001846.4(COL4A2):c.1011+9G>A
|
|
|
NM_001846.4(COL4A2):c.1021G>A (p.Gly341Arg)
|
rs1475888052
|
|
NM_001846.4(COL4A2):c.103G>A (p.Val35Met)
|
|
|
NM_001846.4(COL4A2):c.1060C>T (p.His354Tyr)
|
|
|
NM_001846.4(COL4A2):c.1062C>G (p.His354Gln)
|
|
|
NM_001846.4(COL4A2):c.1079-12T>G
|
|
|
NM_001846.4(COL4A2):c.1079-18G>A
|
|
|
NM_001846.4(COL4A2):c.1079-3C>T
|
|
|
NM_001846.4(COL4A2):c.1091A>T (p.Asp364Val)
|
|
|
NM_001846.4(COL4A2):c.1092C>T (p.Asp364=)
|
|
|
NM_001846.4(COL4A2):c.109A>C (p.Lys37Gln)
|
|
|
NM_001846.4(COL4A2):c.111G>A (p.Lys37=)
|
|
|
NM_001846.4(COL4A2):c.111G>C (p.Lys37Asn)
|
|
|
NM_001846.4(COL4A2):c.1148C>T (p.Pro383Leu)
|
|
|
NM_001846.4(COL4A2):c.1149G>A (p.Pro383=)
|
|
|
NM_001846.4(COL4A2):c.1158A>G (p.Pro386=)
|
|
|
NM_001846.4(COL4A2):c.1159G>T (p.Gly387Cys)
|
|
|
NM_001846.4(COL4A2):c.1162C>T (p.Pro388Ser)
|
|
|
NM_001846.4(COL4A2):c.1166dup (p.Gly390fs)
|
|
|
NM_001846.4(COL4A2):c.1180G>A (p.Gly394Arg)
|
|
|
NM_001846.4(COL4A2):c.1189+20T>C
|
|
|
NM_001846.4(COL4A2):c.1190-12G>A
|
|
|
NM_001846.4(COL4A2):c.1190-4T>G
|
|
|
NM_001846.4(COL4A2):c.1190-7G>A
|
|
|
NM_001846.4(COL4A2):c.1197G>A (p.Arg399=)
|
rs2139481195
|
|
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu)
|
rs772448912
|
|
NM_001846.4(COL4A2):c.1209G>A (p.Pro403=)
|
|
|
NM_001846.4(COL4A2):c.1216A>G (p.Met406Val)
|
|
|
NM_001846.4(COL4A2):c.1223C>G (p.Pro408Arg)
|
|
|
NM_001846.4(COL4A2):c.1224C>T (p.Pro408=)
|
|
|
NM_001846.4(COL4A2):c.1237G>T (p.Gly413Ter)
|
|
|
NM_001846.4(COL4A2):c.123G>A (p.Pro41=)
|
|
|
NM_001846.4(COL4A2):c.1241A>C (p.Asp414Ala)
|
|
|
NM_001846.4(COL4A2):c.1245C>T (p.Pro415=)
|
|
|
NM_001846.4(COL4A2):c.124T>C (p.Cys42Arg)
|
|
|
NM_001846.4(COL4A2):c.1259T>C (p.Leu420Pro)
|
|
|
NM_001846.4(COL4A2):c.1265G>A (p.Gly422Glu)
|
|
|
NM_001846.4(COL4A2):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001846.4(COL4A2):c.1268G>A (p.Gly423Asp)
|
rs2139481315
|
|
NM_001846.4(COL4A2):c.1287_1339+1dup
|
rs1566539998
|
|
NM_001846.4(COL4A2):c.1289dup (p.Arg431fs)
|
|
|
NM_001846.4(COL4A2):c.1291C>T (p.Arg431Ter)
|
|
|
NM_001846.4(COL4A2):c.1292G>A (p.Arg431Gln)
|
|
|
NM_001846.4(COL4A2):c.1298C>T (p.Pro433Leu)
|
|
|
NM_001846.4(COL4A2):c.1300C>T (p.Pro434Ser)
|
|
|
NM_001846.4(COL4A2):c.1309C>G (p.Pro437Ala)
|
|
|
NM_001846.4(COL4A2):c.1311C>G (p.Pro437=)
|
|
|
NM_001846.4(COL4A2):c.1311C>T (p.Pro437=)
|
|
|
NM_001846.4(COL4A2):c.1311dup (p.Gly438fs)
|
|
|
NM_001846.4(COL4A2):c.1329T>C (p.Pro443=)
|
|
|
NM_001846.4(COL4A2):c.1339+2T>C
|
|
|
NM_001846.4(COL4A2):c.1359del (p.Gly454fs)
|
|
|
NM_001846.4(COL4A2):c.1364C>T (p.Ala455Val)
|
rs2139490864
|
|
NM_001846.4(COL4A2):c.1432+7A>G
|
rs1594082204
|
|
NM_001846.4(COL4A2):c.1433-13C>T
|
|
|
NM_001846.4(COL4A2):c.1433-18C>T
|
rs1881884080
|
|
NM_001846.4(COL4A2):c.1438G>A (p.Ala480Thr)
|
|
|
NM_001846.4(COL4A2):c.1452A>T (p.Arg484Ser)
|
|
|
NM_001846.4(COL4A2):c.1453T>C (p.Cys485Arg)
|
|
|
NM_001846.4(COL4A2):c.1463G>A (p.Gly488Asp)
|
|
|
NM_001846.4(COL4A2):c.1467C>T (p.Asp489=)
|
|
|
NM_001846.4(COL4A2):c.1485T>G (p.Leu495=)
|
|
|
NM_001846.4(COL4A2):c.1486C>T (p.Pro496Ser)
|
|
|
NM_001846.4(COL4A2):c.1507_1513del (p.Gly503fs)
|
|
|
NM_001846.4(COL4A2):c.1513G>T (p.Ala505Ser)
|
|
|
NM_001846.4(COL4A2):c.1525G>A (p.Gly509Arg)
|
|
|
NM_001846.4(COL4A2):c.1527G>A (p.Gly509=)
|
|
|
NM_001846.4(COL4A2):c.1533G>A (p.Pro511=)
|
|
|
NM_001846.4(COL4A2):c.1538G>A (p.Arg513Lys)
|
rs2139493755
|
|
NM_001846.4(COL4A2):c.1542dup (p.Gly515fs)
|
|
|
NM_001846.4(COL4A2):c.1545G>C (p.Gly515=)
|
rs536150098
|
|
NM_001846.4(COL4A2):c.1545_1546del (p.Asp516fs)
|
rs2139493765
|
|
NM_001846.4(COL4A2):c.1547del (p.Asp516fs)
|
|
|
NM_001846.4(COL4A2):c.1558C>T (p.Pro520Ser)
|
|
|
NM_001846.4(COL4A2):c.1570_1571del (p.Gly524fs)
|
|
|
NM_001846.4(COL4A2):c.1597-4A>G
|
|
|
NM_001846.4(COL4A2):c.1597-6C>T
|
|
|
NM_001846.4(COL4A2):c.1611C>G (p.Asn537Lys)
|
|
|
NM_001846.4(COL4A2):c.1613T>C (p.Ile538Thr)
|
|
|
NM_001846.4(COL4A2):c.1624G>A (p.Gly542Arg)
|
rs534644575
|
|
NM_001846.4(COL4A2):c.163C>A (p.Pro55Thr)
|
|
|
NM_001846.4(COL4A2):c.1641A>T (p.Lys547Asn)
|
rs2139498824
|
|
NM_001846.4(COL4A2):c.1645G>A (p.Asp549Asn)
|
rs1392128437
|
|
NM_001846.4(COL4A2):c.165T>G (p.Pro55=)
|
|
|
NM_001846.4(COL4A2):c.1663A>C (p.Thr555Pro)
|
|
|
NM_001846.4(COL4A2):c.1670-13A>G
|
|
|
NM_001846.4(COL4A2):c.1670-15C>T
|
|
|
NM_001846.4(COL4A2):c.1670-5T>C
|
|
|
NM_001846.4(COL4A2):c.1670-9C>A
|
|
|
NM_001846.4(COL4A2):c.1689C>T (p.Gly563=)
|
|
|
NM_001846.4(COL4A2):c.1690G>A (p.Val564Ile)
|
|
|
NM_001846.4(COL4A2):c.1697G>T (p.Gly566Val)
|
|
|
NM_001846.4(COL4A2):c.1725C>T (p.Gly575=)
|
|
|
NM_001846.4(COL4A2):c.1733G>C (p.Gly578Ala)
|
|
|
NM_001846.4(COL4A2):c.1736G>A (p.Arg579His)
|
|
|
NM_001846.4(COL4A2):c.1747G>A (p.Asp583Asn)
|
|
|
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
|
|
|
NM_001846.4(COL4A2):c.1775C>T (p.Pro592Leu)
|
rs2139499327
|
|
NM_001846.4(COL4A2):c.1776+20_1776+21delinsAA
|
|
|
NM_001846.4(COL4A2):c.1784G>C (p.Gly595Ala)
|
|
|
NM_001846.4(COL4A2):c.181-17C>A
|
|
|
NM_001846.4(COL4A2):c.181-9T>C
|
|
|
NM_001846.4(COL4A2):c.1824A>G (p.Ile608Met)
|
|
|
NM_001846.4(COL4A2):c.1833G>A (p.Thr611=)
|
|
|
NM_001846.4(COL4A2):c.1864G>T (p.Gly622Ter)
|
|
|
NM_001846.4(COL4A2):c.1878C>T (p.Pro626=)
|
|
|
NM_001846.4(COL4A2):c.1885A>G (p.Lys629Glu)
|
|
|
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp)
|
rs1057523764
|
|
NM_001846.4(COL4A2):c.1907G>A (p.Gly636Glu)
|
|
|
NM_001846.4(COL4A2):c.1909G>A (p.Asp637Asn)
|
rs2139503578
|
|
NM_001846.4(COL4A2):c.1939C>T (p.Leu647=)
|
rs748187379
|
|
NM_001846.4(COL4A2):c.1943G>T (p.Gly648Val)
|
rs2139503646
|
|
NM_001846.4(COL4A2):c.1950T>A (p.Pro650=)
|
|
|
NM_001846.4(COL4A2):c.1956C>T (p.Pro652=)
|
|
|
NM_001846.4(COL4A2):c.1978+20T>C
|
|
|
NM_001846.4(COL4A2):c.1979-4C>G
|
|
|
NM_001846.4(COL4A2):c.2001G>C (p.Arg667Ser)
|
|
|
NM_001846.4(COL4A2):c.2030T>G (p.Ile677Ser)
|
|
|
NM_001846.4(COL4A2):c.2032C>T (p.Gln678Ter)
|
rs2139504287
|
|
NM_001846.4(COL4A2):c.2038+19G>A
|
|
|
NM_001846.4(COL4A2):c.2038+9G>A
|
|
|
NM_001846.4(COL4A2):c.204C>G (p.Pro68=)
|
|
|
NM_001846.4(COL4A2):c.2051G>C (p.Gly684Ala)
|
|
|
NM_001846.4(COL4A2):c.2057A>G (p.Lys686Arg)
|
|
|
NM_001846.4(COL4A2):c.2070_2078del (p.688LPG[1])
|
|
|
NM_001846.4(COL4A2):c.2079A>C (p.Gly693=)
|
rs2139505382
|
|
NM_001846.4(COL4A2):c.207G>A (p.Gln69=)
|
|
|
NM_001846.4(COL4A2):c.2086G>A (p.Gly696Ser)
|
|
|
NM_001846.4(COL4A2):c.2093C>G (p.Thr698Arg)
|
|
|
NM_001846.4(COL4A2):c.2095+10G>A
|
|
|
NM_001846.4(COL4A2):c.2095+7C>T
|
|
|
NM_001846.4(COL4A2):c.2096-12T>G
|
|
|
NM_001846.4(COL4A2):c.2097T>C (p.Gly699=)
|
|
|
NM_001846.4(COL4A2):c.2133A>T (p.Gly711=)
|
|
|
NM_001846.4(COL4A2):c.2166A>C (p.Pro722=)
|
|
|
NM_001846.4(COL4A2):c.216T>C (p.Asn72=)
|
|
|
NM_001846.4(COL4A2):c.2173G>A (p.Ala725Thr)
|
|
|
NM_001846.4(COL4A2):c.2177G>A (p.Gly726Asp)
|
|
|
NM_001846.4(COL4A2):c.2183A>T (p.Glu728Val)
|
|
|
NM_001846.4(COL4A2):c.2219G>A (p.Arg740Gln)
|
|
|
NM_001846.4(COL4A2):c.2248G>C (p.Gly750Arg)
|
|
|
NM_001846.4(COL4A2):c.2262_2274dup (p.Gly759fs)
|
|
|
NM_001846.4(COL4A2):c.2265A>G (p.Pro755=)
|
|
|
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu)
|
rs1882538642
|
|
NM_001846.4(COL4A2):c.2291A>G (p.Asp764Gly)
|
|
|
NM_001846.4(COL4A2):c.2297C>G (p.Pro766Arg)
|
rs1193775766
|
|
NM_001846.4(COL4A2):c.2298C>T (p.Pro766=)
|
|
|
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser)
|
rs886049976
|
|
NM_001846.4(COL4A2):c.2332G>A (p.Gly778Arg)
|
|
|
NM_001846.4(COL4A2):c.2341C>T (p.Pro781Ser)
|
|
|
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln)
|
|
|
NM_001846.4(COL4A2):c.2357A>T (p.Asp786Val)
|
|
|
NM_001846.4(COL4A2):c.2376G>A (p.Gln792=)
|
|
|
NM_001846.4(COL4A2):c.2383C>T (p.Leu795Phe)
|
rs1340849111
|
|
NM_001846.4(COL4A2):c.2391C>T (p.Gly797=)
|
|
|
NM_001846.4(COL4A2):c.2397C>T (p.Pro799=)
|
|
|
NM_001846.4(COL4A2):c.2398G>A (p.Gly800Arg)
|
|
|
NM_001846.4(COL4A2):c.2408G>A (p.Gly803Asp)
|
|
|
NM_001846.4(COL4A2):c.240C>T (p.Phe80=)
|
|
|
NM_001846.4(COL4A2):c.2412C>A (p.Pro804=)
|
|
|
NM_001846.4(COL4A2):c.2418A>T (p.Gly806=)
|
|
|
NM_001846.4(COL4A2):c.2425+14C>T
|
|
|
NM_001846.4(COL4A2):c.2425+3G>A
|
|
|
NM_001846.4(COL4A2):c.2425+8C>A
|
|
|
NM_001846.4(COL4A2):c.2426-13C>A
|
|
|
NM_001846.4(COL4A2):c.2426-16T>C
|
|
|
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn)
|
rs372516991
|
|
NM_001846.4(COL4A2):c.2437A>T (p.Met813Leu)
|
|
|
NM_001846.4(COL4A2):c.243G>A (p.Pro81=)
|
|
|
NM_001846.4(COL4A2):c.2442_2450dup (p.Gly818_Leu819insMetProGly)
|
|
|
NM_001846.4(COL4A2):c.2446del (p.Met816fs)
|
|
|
NM_001846.4(COL4A2):c.2447T>A (p.Met816Lys)
|
|
|
NM_001846.4(COL4A2):c.2461G>A (p.Gly821Ser)
|
|
|
NM_001846.4(COL4A2):c.2487C>T (p.Ser829=)
|
|
|
NM_001846.4(COL4A2):c.2488G>A (p.Gly830Ser)
|
rs1333372502
|
|
NM_001846.4(COL4A2):c.2495C>T (p.Pro832Leu)
|
|
|
NM_001846.4(COL4A2):c.2509C>T (p.Pro837Ser)
|
|
|
NM_001846.4(COL4A2):c.2511T>A (p.Pro837=)
|
rs2139519210
|
|
NM_001846.4(COL4A2):c.2514A>G (p.Pro838=)
|
|
|
NM_001846.4(COL4A2):c.253G>A (p.Gly85Arg)
|
|
|
NM_001846.4(COL4A2):c.2552G>T (p.Gly851Val)
|
|
|
NM_001846.4(COL4A2):c.256C>T (p.Arg86Cys)
|
|
|
NM_001846.4(COL4A2):c.2582G>A (p.Arg861His)
|
|
|
NM_001846.4(COL4A2):c.2587+12G>A
|
rs749670382
|
|
NM_001846.4(COL4A2):c.2587+13C>T
|
|
|
NM_001846.4(COL4A2):c.2587+19C>T
|
|
|
NM_001846.4(COL4A2):c.2587+2T>G
|
|
|
NM_001846.4(COL4A2):c.2588-12T>G
|
|
|
NM_001846.4(COL4A2):c.2624G>C (p.Gly875Ala)
|
rs2139522138
|
|
NM_001846.4(COL4A2):c.2626G>A (p.Ala876Thr)
|
|
|
NM_001846.4(COL4A2):c.2628T>C (p.Ala876=)
|
rs1594099038
|
|
NM_001846.4(COL4A2):c.2635C>A (p.Pro879Thr)
|
|
|
NM_001846.4(COL4A2):c.2640G>A (p.Val880=)
|
|
|
NM_001846.4(COL4A2):c.2657C>T (p.Ser886Phe)
|
|
|
NM_001846.4(COL4A2):c.2661T>C (p.Gly887=)
|
rs1277653915
|
|
NM_001846.4(COL4A2):c.2672A>G (p.Asp891Gly)
|
|
|
NM_001846.4(COL4A2):c.2682C>T (p.Phe894=)
|
|
|
NM_001846.4(COL4A2):c.2709C>T (p.Ser903=)
|
|
|
NM_001846.4(COL4A2):c.2749G>A (p.Gly917Arg)
|
|
|
NM_001846.4(COL4A2):c.2751G>A (p.Gly917=)
|
|
|
NM_001846.4(COL4A2):c.2758+20C>A
|
|
|
NM_001846.4(COL4A2):c.2759-12T>C
|
|
|
NM_001846.4(COL4A2):c.2759-20T>G
|
|
|
NM_001846.4(COL4A2):c.2762A>T (p.Asp921Val)
|
|
|
NM_001846.4(COL4A2):c.2763T>C (p.Asp921=)
|
|
|
NM_001846.4(COL4A2):c.2770T>C (p.Ser924Pro)
|
|
|
NM_001846.4(COL4A2):c.2774C>G (p.Pro925Arg)
|
|
|
NM_001846.4(COL4A2):c.2798T>C (p.Met933Thr)
|
|
|
NM_001846.4(COL4A2):c.2799G>A (p.Met933Ile)
|
rs1336692495
|
|
NM_001846.4(COL4A2):c.2800C>T (p.Pro934Ser)
|
|
|
NM_001846.4(COL4A2):c.2814G>C (p.Gly938=)
|
|
|
NM_001846.4(COL4A2):c.2820C>T (p.Pro940=)
|
|
|
NM_001846.4(COL4A2):c.2821G>A (p.Gly941Arg)
|
|
|
NM_001846.4(COL4A2):c.2832G>A (p.Gly944=)
|
|
|
NM_001846.4(COL4A2):c.2840G>T (p.Gly947Val)
|
|
|
NM_001846.4(COL4A2):c.2844G>A (p.Glu948=)
|
|
|
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp)
|
rs754829210
|
|
NM_001846.4(COL4A2):c.288C>T (p.Pro96=)
|
|
|
NM_001846.4(COL4A2):c.28G>A (p.Gly10Ser)
|
|
|
NM_001846.4(COL4A2):c.2902+3A>T
|
|
|
NM_001846.4(COL4A2):c.2903-19G>A
|
|
|
NM_001846.4(COL4A2):c.2921G>A (p.Gly974Glu)
|
|
|
NM_001846.4(COL4A2):c.292G>A (p.Val98Ile)
|
|
|
NM_001846.4(COL4A2):c.2954G>C (p.Gly985Ala)
|
|
|
NM_001846.4(COL4A2):c.2954_2955delinsTT (p.Gly985Val)
|
rs2139528190
|
|
NM_001846.4(COL4A2):c.2958G>A (p.Met986Ile)
|
|
|
NM_001846.4(COL4A2):c.2978A>G (p.Lys993Arg)
|
|
|
NM_001846.4(COL4A2):c.3013C>G (p.Leu1005Val)
|
|
|
NM_001846.4(COL4A2):c.3025+10C>A
|
|
|
NM_001846.4(COL4A2):c.3025+8T>C
|
|
|
NM_001846.4(COL4A2):c.3026-19C>T
|
|
|
NM_001846.4(COL4A2):c.3028A>G (p.Ile1010Val)
|
|
|
NM_001846.4(COL4A2):c.302C>A (p.Pro101His)
|
|
|
NM_001846.4(COL4A2):c.3087C>G (p.Pro1029=)
|
rs201630262
|
|
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=)
|
rs201630262
|
|
NM_001846.4(COL4A2):c.310G>A (p.Asp104Asn)
|
|
|
NM_001846.4(COL4A2):c.3124C>T (p.Pro1042Ser)
|
|
|
NM_001846.4(COL4A2):c.3125C>T (p.Pro1042Leu)
|
|
|
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs)
|
rs1268038830
|
|
NM_001846.4(COL4A2):c.3136G>A (p.Gly1046Ser)
|
|
|
NM_001846.4(COL4A2):c.3143C>A (p.Pro1048Gln)
|
rs767119766
|
|
NM_001846.4(COL4A2):c.315+5G>A
|
rs1406323858
|
|
NM_001846.4(COL4A2):c.3155G>T (p.Gly1052Val)
|
|
|
NM_001846.4(COL4A2):c.3162T>C (p.Ala1054=)
|
|
|
NM_001846.4(COL4A2):c.3169C>A (p.Pro1057Thr)
|
|
|
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala)
|
rs201763437
|
|
NM_001846.4(COL4A2):c.3207+16T>C
|
|
|
NM_001846.4(COL4A2):c.3207+9del
|
|
|
NM_001846.4(COL4A2):c.3208-11T>C
|
|
|
NM_001846.4(COL4A2):c.3218G>A (p.Gly1073Asp)
|
|
|
NM_001846.4(COL4A2):c.321A>G (p.Ala107=)
|
|
|
NM_001846.4(COL4A2):c.3224C>T (p.Pro1075Leu)
|
|
|
NM_001846.4(COL4A2):c.3237C>A (p.Gly1079=)
|
rs770333998
|
|
NM_001846.4(COL4A2):c.3247G>A (p.Glu1083Lys)
|
|
|
NM_001846.4(COL4A2):c.3248A>G (p.Glu1083Gly)
|
|
|
NM_001846.4(COL4A2):c.3250A>G (p.Ile1084Val)
|
|
|
NM_001846.4(COL4A2):c.3251T>C (p.Ile1084Thr)
|
|
|
NM_001846.4(COL4A2):c.3258G>T (p.Ala1086=)
|
rs267603756
|
|
NM_001846.4(COL4A2):c.3270C>T (p.Phe1090=)
|
|
|
NM_001846.4(COL4A2):c.3271+13C>T
|
|
|
NM_001846.4(COL4A2):c.3271+14G>A
|
|
|
NM_001846.4(COL4A2):c.3271G>A (p.Gly1091Ser)
|
|
|
NM_001846.4(COL4A2):c.3272-10C>T
|
|
|
NM_001846.4(COL4A2):c.3272-8T>C
|
|
|
NM_001846.4(COL4A2):c.3272G>T (p.Gly1091Val)
|
rs2139534208
|
|
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
|
|
|
NM_001846.4(COL4A2):c.3280G>A (p.Gly1094Arg)
|
|
|
NM_001846.4(COL4A2):c.3287C>T (p.Thr1096Ile)
|
|
|
NM_001846.4(COL4A2):c.3301G>A (p.Gly1101Arg)
|
|
|
NM_001846.4(COL4A2):c.3305G>T (p.Arg1102Ile)
|
|
|
NM_001846.4(COL4A2):c.3306A>G (p.Arg1102=)
|
|
|
NM_001846.4(COL4A2):c.3333C>T (p.Thr1111=)
|
|
|
NM_001846.4(COL4A2):c.3346+18C>A
|
|
|
NM_001846.4(COL4A2):c.3346+3dup
|
|
|
NM_001846.4(COL4A2):c.3346+9G>A
|
|
|
NM_001846.4(COL4A2):c.3347-13T>C
|
rs2139536118
|
|
NM_001846.4(COL4A2):c.3378A>G (p.Thr1126=)
|
|
|
NM_001846.4(COL4A2):c.3389T>C (p.Ile1130Thr)
|
|
|
NM_001846.4(COL4A2):c.3436G>A (p.Gly1146Arg)
|
|
|
NM_001846.4(COL4A2):c.3448C>T (p.Gln1150Ter)
|
rs62621875
|
|
NM_001846.4(COL4A2):c.3454+12C>T
|
|
|
NM_001846.4(COL4A2):c.3454+16G>A
|
|
|
NM_001846.4(COL4A2):c.3455-17G>A
|
|
|
NM_001846.4(COL4A2):c.3455-6C>T
|
|
|
NM_001846.4(COL4A2):c.3466del (p.Gly1155_Leu1156insTer)
|
|
|
NM_001846.4(COL4A2):c.3474G>C (p.Gly1158=)
|
|
|
NM_001846.4(COL4A2):c.347C>T (p.Ala116Val)
|
|
|
NM_001846.4(COL4A2):c.3486G>A (p.Ser1162=)
|
|
|
NM_001846.4(COL4A2):c.3487C>G (p.Gln1163Glu)
|
rs1594106494
|
|
NM_001846.4(COL4A2):c.348C>T (p.Ala116=)
|
|
|
NM_001846.4(COL4A2):c.3499G>A (p.Gly1167Arg)
|
|
|
NM_001846.4(COL4A2):c.349G>A (p.Asp117Asn)
|
rs374976511
|
|
NM_001846.4(COL4A2):c.350A>G (p.Asp117Gly)
|
|
|
NM_001846.4(COL4A2):c.3512T>A (p.Leu1171Gln)
|
|
|
NM_001846.4(COL4A2):c.3534T>C (p.Asp1178=)
|
|
|
NM_001846.4(COL4A2):c.3535G>A (p.Gly1179Ser)
|
rs1206297668
|
|
NM_001846.4(COL4A2):c.3536G>C (p.Gly1179Ala)
|
|
|
NM_001846.4(COL4A2):c.3542C>T (p.Pro1181Leu)
|
|
|
NM_001846.4(COL4A2):c.3543G>A (p.Pro1181=)
|
|
|
NM_001846.4(COL4A2):c.3548C>T (p.Ala1183Val)
|
|
|
NM_001846.4(COL4A2):c.3563-20G>A
|
|
|
NM_001846.4(COL4A2):c.3563-4G>C
|
rs562701263
|
|
NM_001846.4(COL4A2):c.3563-5C>T
|
|
|
NM_001846.4(COL4A2):c.3570G>A (p.Pro1190=)
|
|
|
NM_001846.4(COL4A2):c.3586C>T (p.Arg1196Cys)
|
|
|
NM_001846.4(COL4A2):c.3587G>A (p.Arg1196His)
|
|
|
NM_001846.4(COL4A2):c.3589G>A (p.Gly1197Ser)
|
|
|
NM_001846.4(COL4A2):c.3594A>G (p.Leu1198=)
|
|
|
NM_001846.4(COL4A2):c.360+17A>C
|
|
|
NM_001846.4(COL4A2):c.361-15T>A
|
|
|
NM_001846.4(COL4A2):c.361-1G>A
|
|
|
NM_001846.4(COL4A2):c.3613A>G (p.Lys1205Glu)
|
|
|
NM_001846.4(COL4A2):c.3632C>T (p.Pro1211Leu)
|
|
|
NM_001846.4(COL4A2):c.3634+1G>A
|
rs2139538797
|
|
NM_001846.4(COL4A2):c.3635-3C>T
|
|
|
NM_001846.4(COL4A2):c.3648C>T (p.His1216=)
|
|
|
NM_001846.4(COL4A2):c.3684A>G (p.Arg1228=)
|
|
|
NM_001846.4(COL4A2):c.3686del (p.Gly1229fs)
|
rs1883424044
|
|
NM_001846.4(COL4A2):c.368C>T (p.Pro123Leu)
|
|
|
NM_001846.4(COL4A2):c.3695G>C (p.Gly1232Ala)
|
|
|
NM_001846.4(COL4A2):c.3699G>A (p.Glu1233=)
|
|
|
NM_001846.4(COL4A2):c.369G>A (p.Pro123=)
|
|
|
NM_001846.4(COL4A2):c.3712C>A (p.Pro1238Thr)
|
|
|
NM_001846.4(COL4A2):c.3712C>G (p.Pro1238Ala)
|
|
|
NM_001846.4(COL4A2):c.3712C>T (p.Pro1238Ser)
|
|
|
NM_001846.4(COL4A2):c.3747C>A (p.Asp1249Glu)
|
|
|
NM_001846.4(COL4A2):c.3760+9A>C
|
|
|
NM_001846.4(COL4A2):c.3761-8A>G
|
|
|
NM_001846.4(COL4A2):c.3761-8A>T
|
|
|
NM_001846.4(COL4A2):c.3762G>A (p.Gly1254=)
|
|
|
NM_001846.4(COL4A2):c.3766C>T (p.Arg1256Ter)
|
|
|
NM_001846.4(COL4A2):c.3767G>A (p.Arg1256Gln)
|
|
|
NM_001846.4(COL4A2):c.376G>T (p.Gly126Cys)
|
|
|
NM_001846.4(COL4A2):c.377G>A (p.Gly126Asp)
|
rs1880549875
|
|
NM_001846.4(COL4A2):c.3786A>G (p.Pro1262=)
|
|
|
NM_001846.4(COL4A2):c.3793C>A (p.Gln1265Lys)
|
|
|
NM_001846.4(COL4A2):c.3798G>T (p.Gly1266=)
|
|
|
NM_001846.4(COL4A2):c.3804= (p.Pro1268=)
|
|
|
NM_001846.4(COL4A2):c.3807= (p.Gly1269=)
|
|
|
NM_001846.4(COL4A2):c.3842G>A (p.Gly1281Asp)
|
rs2139549975
|
|
NM_001846.4(COL4A2):c.3855G>A (p.Ala1285=)
|
|
|
NM_001846.4(COL4A2):c.3873G>A (p.Leu1291=)
|
|
|
NM_001846.4(COL4A2):c.3878-3C>T
|
|
|
NM_001846.4(COL4A2):c.3882_3891dup (p.Pro1298fs)
|
rs2139552020
|
|
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
|
|
|
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=)
|
rs886049980
|
|
NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)
|
|
|
NM_001846.4(COL4A2):c.3982G>T (p.Ala1328Ser)
|
|
|
NM_001846.4(COL4A2):c.3984C>T (p.Ala1328=)
|
rs538131418
|
|
NM_001846.4(COL4A2):c.398G>T (p.Gly133Val)
|
|
|
NM_001846.4(COL4A2):c.39A>G (p.Leu13=)
|
|
|
NM_001846.4(COL4A2):c.402C>T (p.Tyr134=)
|
|
|
NM_001846.4(COL4A2):c.4039+6A>T
|
|
|
NM_001846.4(COL4A2):c.4040-18G>A
|
|
|
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp)
|
rs2139552522
|
|
NM_001846.4(COL4A2):c.4064T>C (p.Met1355Thr)
|
|
|
NM_001846.4(COL4A2):c.4083= (p.Thr1361=)
|
|
|
NM_001846.4(COL4A2):c.4089_4090delinsAT (p.Val1364Leu)
|
rs2139552619
|
|
NM_001846.4(COL4A2):c.4095C>T (p.Gly1365=)
|
|
|
NM_001846.4(COL4A2):c.4095del (p.Asp1366fs)
|
|
|
NM_001846.4(COL4A2):c.4126C>G (p.Pro1376Ala)
|
|
|
NM_001846.4(COL4A2):c.4138+10C>T
|
|
|
NM_001846.4(COL4A2):c.4138+13C>G
|
rs577133380
|
|
NM_001846.4(COL4A2):c.4138+16G>A
|
|
|
NM_001846.4(COL4A2):c.4139-20C>A
|
|
|
NM_001846.4(COL4A2):c.4141G>A (p.Ala1381Thr)
|
|
|
NM_001846.4(COL4A2):c.4149G>T (p.Gly1383=)
|
|
|
NM_001846.4(COL4A2):c.414C>T (p.Asn138=)
|
|
|
NM_001846.4(COL4A2):c.4176A>G (p.Gly1392=)
|
|
|
NM_001846.4(COL4A2):c.4233C>T (p.Gly1411=)
|
|
|
NM_001846.4(COL4A2):c.4236C>G (p.Pro1412=)
|
|
|
NM_001846.4(COL4A2):c.4248G>A (p.Pro1416=)
|
|
|
NM_001846.4(COL4A2):c.4249G>T (p.Gly1417Trp)
|
|
|
NM_001846.4(COL4A2):c.4255_4256delinsGC (p.Met1419Ala)
|
rs1594114117
|
|
NM_001846.4(COL4A2):c.4256delinsCG (p.Met1419fs)
|
|
|
NM_001846.4(COL4A2):c.4269C>T (p.Gly1423=)
|
|
|
NM_001846.4(COL4A2):c.4275C>A (p.Pro1425=)
|
rs529617799
|
|
NM_001846.4(COL4A2):c.4275dup (p.Gly1426fs)
|
rs34603892
|
|
NM_001846.4(COL4A2):c.4285+4G>T
|
|
|
NM_001846.4(COL4A2):c.4286-11G>T
|
|
|
NM_001846.4(COL4A2):c.4286-20G>A
|
|
|
NM_001846.4(COL4A2):c.4290= (p.Phe1430=)
|
|
|
NM_001846.4(COL4A2):c.4290_4291delinsTT (p.Arg1431Cys)
|
rs2139553984
|
|
NM_001846.4(COL4A2):c.4316C>T (p.Pro1439Leu)
|
|
|
NM_001846.4(COL4A2):c.432A>G (p.Ser144=)
|
rs1594208742
|
|
NM_001846.4(COL4A2):c.4354C>T (p.Arg1452Trp)
|
|
|
NM_001846.4(COL4A2):c.4383G>A (p.Gln1461=)
|
|
|
NM_001846.4(COL4A2):c.4383G>T (p.Gln1461His)
|
|
|
NM_001846.4(COL4A2):c.4388C>T (p.Pro1463Leu)
|
rs766824658
|
|
NM_001846.4(COL4A2):c.4390A>G (p.Ile1464Val)
|
|
|
NM_001846.4(COL4A2):c.439C>T (p.Gln147Ter)
|
|
|
NM_001846.4(COL4A2):c.44+10T>A
|
rs756398337
|
|
NM_001846.4(COL4A2):c.44+10T>C
|
|
|
NM_001846.4(COL4A2):c.44+15G>T
|
|
|
NM_001846.4(COL4A2):c.44+9C>T
|
|
|
NM_001846.4(COL4A2):c.4402+18_4402+43del
|
|
|
NM_001846.4(COL4A2):c.4426C>G (p.Pro1476Ala)
|
rs2139558047
|
|
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
|
|
|
NM_001846.4(COL4A2):c.4451G>A (p.Arg1484His)
|
|
|
NM_001846.4(COL4A2):c.4455C>T (p.Ser1485=)
|
|
|
NM_001846.4(COL4A2):c.4461C>T (p.Ser1487=)
|
|
|
NM_001846.4(COL4A2):c.4465G>A (p.Gly1489Ser)
|
|
|
NM_001846.4(COL4A2):c.4466G>A (p.Gly1489Asp)
|
rs1025762255
|
|
NM_001846.4(COL4A2):c.4468T>C (p.Tyr1490His)
|
|
|
NM_001846.4(COL4A2):c.446C>A (p.Pro149His)
|
|
|
NM_001846.4(COL4A2):c.4470C>T (p.Tyr1490=)
|
|
|
NM_001846.4(COL4A2):c.4487G>C (p.Ser1496Thr)
|
|
|
NM_001846.4(COL4A2):c.4493C>T (p.Thr1498Met)
|
|
|
NM_001846.4(COL4A2):c.449C>T (p.Pro150Leu)
|
|
|
NM_001846.4(COL4A2):c.45-17C>T
|
rs2139334431
|
|
NM_001846.4(COL4A2):c.45-8C>T
|
|
|
NM_001846.4(COL4A2):c.4512C>T (p.Cys1504=)
|
|
|
NM_001846.4(COL4A2):c.4514_4515inv (p.Pro1505Leu)
|
|
|
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys)
|
rs182278784
|
|
NM_001846.4(COL4A2):c.4577C>T (p.Ala1526Val)
|
|
|
NM_001846.4(COL4A2):c.4591C>G (p.Leu1531Val)
|
|
|
NM_001846.4(COL4A2):c.4594+17C>T
|
rs141097444
|
|
NM_001846.4(COL4A2):c.4594+18G>A
|
|
|
NM_001846.4(COL4A2):c.4594+6T>C
|
|
|
NM_001846.4(COL4A2):c.4595-15C>T
|
|
|
NM_001846.4(COL4A2):c.4595-6C>G
|
|
|
NM_001846.4(COL4A2):c.4600G>T (p.Ala1534Ser)
|
|
|
NM_001846.4(COL4A2):c.4614G>A (p.Leu1538=)
|
|
|
NM_001846.4(COL4A2):c.4616C>T (p.Ala1539Val)
|
|
|
NM_001846.4(COL4A2):c.4619G>A (p.Arg1540Gln)
|
|
|
NM_001846.4(COL4A2):c.4646G>A (p.Cys1549Tyr)
|
|
|
NM_001846.4(COL4A2):c.4653T>C (p.Pro1551=)
|
|
|
NM_001846.4(COL4A2):c.4698G>A (p.Trp1566Ter)
|
|
|
NM_001846.4(COL4A2):c.4709C>A (p.Thr1570Asn)
|
rs2139560153
|
|
NM_001846.4(COL4A2):c.4713G>A (p.Ala1571=)
|
|
|
NM_001846.4(COL4A2):c.4743C>T (p.Asp1581=)
|
|
|
NM_001846.4(COL4A2):c.4749C>A (p.Ile1583=)
|
|
|
NM_001846.4(COL4A2):c.4754C>G (p.Pro1585Arg)
|
|
|
NM_001846.4(COL4A2):c.4755C>G (p.Pro1585=)
|
|
|
NM_001846.4(COL4A2):c.4765C>T (p.Arg1589Cys)
|
|
|
NM_001846.4(COL4A2):c.4766G>A (p.Arg1589His)
|
|
|
NM_001846.4(COL4A2):c.477+7A>G
|
|
|
NM_001846.4(COL4A2):c.4772C>G (p.Ser1591Cys)
|
|
|
NM_001846.4(COL4A2):c.4784C>G (p.Ala1595Gly)
|
|
|
NM_001846.4(COL4A2):c.4800C>T (p.Ile1600=)
|
|
|
NM_001846.4(COL4A2):c.4803G>A (p.Ala1601=)
|
|
|
NM_001846.4(COL4A2):c.4807C>A (p.His1603Asn)
|
|
|
NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser)
|
|
|
NM_001846.4(COL4A2):c.4842T>A (p.Ala1614=)
|
|
|
NM_001846.4(COL4A2):c.4843G>T (p.Gly1615Trp)
|
|
|
NM_001846.4(COL4A2):c.4863_4867del (p.Gly1622fs)
|
|
|
NM_001846.4(COL4A2):c.4878C>T (p.Leu1626=)
|
|
|
NM_001846.4(COL4A2):c.487G>T (p.Gly163Ter)
|
|
|
NM_001846.4(COL4A2):c.4881+18A>G
|
|
|
NM_001846.4(COL4A2):c.4882-12C>T
|
|
|
NM_001846.4(COL4A2):c.4882-13C>G
|
rs375187382
|
|
NM_001846.4(COL4A2):c.4882-6G>C
|
rs1884094603
|
|
NM_001846.4(COL4A2):c.4893G>A (p.Ala1631=)
|
|
|
NM_001846.4(COL4A2):c.4899C>T (p.Asp1633=)
|
|
|
NM_001846.4(COL4A2):c.4903G>A (p.Gly1635Ser)
|
|
|
NM_001846.4(COL4A2):c.4912C>T (p.Gln1638Ter)
|
rs2139564451
|
|
NM_001846.4(COL4A2):c.491C>A (p.Pro164Gln)
|
|
|
NM_001846.4(COL4A2):c.4921G>A (p.Val1641Met)
|
|
|
NM_001846.4(COL4A2):c.4922T>C (p.Val1641Ala)
|
|
|
NM_001846.4(COL4A2):c.4928C>T (p.Pro1643Leu)
|
|
|
NM_001846.4(COL4A2):c.4952G>A (p.Arg1651His)
|
|
|
NM_001846.4(COL4A2):c.4968C>T (p.Ile1656=)
|
rs148666408
|
|
NM_001846.4(COL4A2):c.4976A>G (p.Asn1659Ser)
|
|
|
NM_001846.4(COL4A2):c.4977T>C (p.Asn1659=)
|
|
|
NM_001846.4(COL4A2):c.4980A>G (p.Gly1660=)
|
|
|
NM_001846.4(COL4A2):c.4984C>T (p.Arg1662Cys)
|
|
|
NM_001846.4(COL4A2):c.4989C>T (p.Gly1663=)
|
|
|
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val)
|
rs200430407
|
|
NM_001846.4(COL4A2):c.49C>T (p.Leu17=)
|
rs200430407
|
|
NM_001846.4(COL4A2):c.4G>C (p.Gly2Arg)
|
rs752976373
|
|
NM_001846.4(COL4A2):c.5004C>T (p.Tyr1668=)
|
|
|
NM_001846.4(COL4A2):c.5005G>A (p.Ala1669Thr)
|
rs199959120
|
|
NM_001846.4(COL4A2):c.5032A>G (p.Thr1678Ala)
|
|
|
NM_001846.4(COL4A2):c.5039C>G (p.Pro1680Arg)
|
|
|
NM_001846.4(COL4A2):c.5040C>T (p.Pro1680=)
|
|
|
NM_001846.4(COL4A2):c.5053C>G (p.Gln1685Glu)
|
rs2139564639
|
|
NM_001846.4(COL4A2):c.5086G>A (p.Gly1696Ser)
|
|
|
NM_001846.4(COL4A2):c.5103C>T (p.His1701=)
|
rs772344537
|
|
NM_001846.4(COL4A2):c.5122_5138del (p.Cys1708fs)
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rs1280406576
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NM_001846.4(COL4A2):c.5128A>C (p.Lys1710Gln)
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NM_001846.4(COL4A2):c.537C>T (p.Arg179=)
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NM_001846.4(COL4A2):c.546T>A (p.Tyr182Ter)
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NM_001846.4(COL4A2):c.550-6C>T
|
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NM_001846.4(COL4A2):c.55C>T (p.Leu19=)
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NM_001846.4(COL4A2):c.567T>C (p.Pro189=)
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NM_001846.4(COL4A2):c.571T>C (p.Leu191=)
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NM_001846.4(COL4A2):c.573G>A (p.Leu191=)
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NM_001846.4(COL4A2):c.577G>A (p.Gly193Ser)
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NM_001846.4(COL4A2):c.579T>C (p.Gly193=)
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NM_001846.4(COL4A2):c.585+4A>C
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NM_001846.4(COL4A2):c.586-16C>T
|
|
|
NM_001846.4(COL4A2):c.595G>A (p.Gly199Ser)
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NM_001846.4(COL4A2):c.597C>T (p.Gly199=)
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NM_001846.4(COL4A2):c.605G>A (p.Gly202Glu)
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NM_001846.4(COL4A2):c.60G>T (p.Gly20=)
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NM_001846.4(COL4A2):c.643A>G (p.Arg215Gly)
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NM_001846.4(COL4A2):c.649-12G>A
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NM_001846.4(COL4A2):c.656C>T (p.Pro219Leu)
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|
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NM_001846.4(COL4A2):c.661C>A (p.Pro221Thr)
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NM_001846.4(COL4A2):c.6G>T (p.Gly2=)
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NM_001846.4(COL4A2):c.726+4A>G
|
rs2139462568
|
|
NM_001846.4(COL4A2):c.726G>A (p.Lys242=)
|
rs1463099199
|
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NM_001846.4(COL4A2):c.727-8A>G
|
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|
NM_001846.4(COL4A2):c.734T>G (p.Val245Gly)
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NM_001846.4(COL4A2):c.743C>T (p.Pro248Leu)
|
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NM_001846.4(COL4A2):c.750C>T (p.Pro250=)
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NM_001846.4(COL4A2):c.786C>T (p.Ile262=)
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|
NM_001846.4(COL4A2):c.788C>T (p.Ala263Val)
|
|
|
NM_001846.4(COL4A2):c.799del (p.Val267fs)
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|
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NM_001846.4(COL4A2):c.825+14T>C
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NM_001846.4(COL4A2):c.825+5A>T
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NM_001846.4(COL4A2):c.826-13A>G
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|
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NM_001846.4(COL4A2):c.826-1G>T
|
|
|
NM_001846.4(COL4A2):c.826-9T>G
|
|
|
NM_001846.4(COL4A2):c.829G>A (p.Glu277Lys)
|
|
|
NM_001846.4(COL4A2):c.838A>G (p.Ser280Gly)
|
|
|
NM_001846.4(COL4A2):c.83C>T (p.Ala28Val)
|
|
|
NM_001846.4(COL4A2):c.861+14T>C
|
|
|
NM_001846.4(COL4A2):c.861+17G>A
|
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NM_001846.4(COL4A2):c.861+8G>T
|
|
|
NM_001846.4(COL4A2):c.862-15T>A
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NM_001846.4(COL4A2):c.882A>T (p.Glu294Asp)
|
rs2139467210
|
|
NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter)
|
|
|
NM_001846.4(COL4A2):c.900T>A (p.Phe300Leu)
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NM_001846.4(COL4A2):c.912+10G>A
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NM_001846.4(COL4A2):c.912+18T>C
|
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NM_001846.4(COL4A2):c.912+18T>G
|
|
|
NM_001846.4(COL4A2):c.919C>G (p.Pro307Ala)
|
|
|
NM_001846.4(COL4A2):c.921T>C (p.Pro307=)
|
|
|
NM_001846.4(COL4A2):c.92T>C (p.Val31Ala)
|
|
|
NM_001846.4(COL4A2):c.930T>A (p.Ser310Arg)
|
|
|
NM_001846.4(COL4A2):c.940G>C (p.Gly314Arg)
|
|
|
NM_001846.4(COL4A2):c.953A>G (p.Gln318Arg)
|
|
|
NM_001846.4(COL4A2):c.953A>T (p.Gln318Leu)
|
|
|
NM_001846.4(COL4A2):c.957+14A>G
|
|
|
NM_001846.4(COL4A2):c.957+16G>A
|
|
|
NM_001846.4(COL4A2):c.958-12T>C
|
|
|
NM_001846.4(COL4A2):c.958-15A>G
|
|
|
NM_001846.4(COL4A2):c.969C>A (p.Gly323=)
|
|
|
NM_001846.4(COL4A2):c.988C>T (p.Pro330Ser)
|
|
|
NM_001846.4(COL4A2):c.99+19G>T
|
|
|