NM_000091.5(COL4A3):c.*969G>A
|
rs188150740
|
0.00620
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
|
rs192027050
|
0.00262
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000091.5(COL4A3):c.*647T>G
|
rs183552783
|
0.00206
|
NM_000091.5(COL4A3):c.3566-9T>C
|
rs147886850
|
0.00184
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_000091.5(COL4A3):c.*1322T>A
|
rs115338903
|
0.00158
|
NM_000091.5(COL4A3):c.4756-13A>T
|
rs190701197
|
0.00135
|
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)
|
rs201607115
|
0.00132
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_000091.5(COL4A3):c.573T>C (p.Pro191=)
|
rs375503109
|
0.00078
|
NM_000091.5(COL4A3):c.*1764A>G
|
rs577379452
|
0.00071
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg)
|
rs200866082
|
0.00067
|
NM_000091.5(COL4A3):c.2020+18A>C
|
rs374992426
|
0.00061
|
NM_000091.5(COL4A3):c.2489-8G>A
|
rs201846272
|
0.00061
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr)
|
rs188967260
|
0.00048
|
NM_000091.5(COL4A3):c.829-15C>T
|
rs201021733
|
0.00046
|
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe)
|
rs200107989
|
0.00044
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000091.5(COL4A3):c.1505-12G>A
|
rs114658110
|
0.00036
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)
|
rs201198284
|
0.00024
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr)
|
rs188324379
|
0.00023
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)
|
rs189574905
|
0.00021
|
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)
|
rs148686474
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000091.5(COL4A3):c.*406G>A
|
rs759265728
|
0.00014
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
NM_000091.5(COL4A3):c.688-8G>T
|
rs748843785
|
0.00013
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)
|
rs200984988
|
0.00011
|
NM_000091.5(COL4A3):c.3419-8T>G
|
rs754483986
|
0.00011
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
NM_000091.5(COL4A3):c.3882+10G>A
|
rs78980950
|
0.00011
|
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)
|
rs759074046
|
0.00011
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)
|
rs377136253
|
0.00009
|
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu)
|
rs368342782
|
0.00009
|
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn)
|
rs376762135
|
0.00009
|
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)
|
rs377003650
|
0.00009
|
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)
|
rs374427586
|
0.00009
|
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
|
rs144036466
|
0.00009
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00008
|
NM_000091.5(COL4A3):c.*1639G>A
|
rs950432432
|
0.00007
|
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
|
rs369567469
|
0.00007
|
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His)
|
rs893516153
|
0.00007
|
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
|
rs145948549
|
0.00007
|
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)
|
rs368480491
|
0.00007
|
NM_000091.5(COL4A3):c.*1000C>T
|
rs770149608
|
0.00006
|
NM_000091.5(COL4A3):c.*1645del
|
rs886055747
|
0.00006
|
NM_000091.5(COL4A3):c.*2180C>T
|
rs886055749
|
0.00006
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser)
|
rs745472969
|
0.00006
|
NM_000091.5(COL4A3):c.1576-6C>T
|
rs202210023
|
0.00006
|
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
|
rs767174856
|
0.00006
|
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=)
|
rs200125890
|
0.00006
|
NM_000091.5(COL4A3):c.3565+9T>G
|
rs750406964
|
0.00006
|
NM_000091.5(COL4A3):c.4253-14T>C
|
rs747386514
|
0.00006
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
NM_000091.5(COL4A3):c.1075C>G (p.Pro359Ala)
|
rs757538073
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
|
rs772037798
|
0.00005
|
NM_000091.5(COL4A3):c.1928-4T>C
|
rs376327706
|
0.00005
|
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=)
|
rs201419174
|
0.00005
|
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)
|
rs972796332
|
0.00005
|
NM_000091.5(COL4A3):c.4034G>A (p.Arg1345His)
|
rs553185617
|
0.00005
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
NM_000091.5(COL4A3):c.*1612A>G
|
rs760687020
|
0.00004
|
NM_000091.5(COL4A3):c.*2565T>C
|
rs1261742464
|
0.00004
|
NM_000091.5(COL4A3):c.*261A>T
|
rs1019244359
|
0.00004
|
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)
|
rs765336013
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000091.5(COL4A3):c.2125+13T>C
|
rs777353565
|
0.00004
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
NM_000091.5(COL4A3):c.2767G>A (p.Val923Ile)
|
rs917860017
|
0.00004
|
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
|
rs772164474
|
0.00004
|
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu)
|
rs1178734829
|
0.00004
|
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
|
rs764663555
|
0.00004
|
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
|
rs558813497
|
0.00004
|
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)
|
rs377575924
|
0.00004
|
NM_000091.5(COL4A3):c.516C>T (p.Asp172=)
|
rs759455097
|
0.00004
|
NM_000091.5(COL4A3):c.672A>G (p.Gly224=)
|
rs375059614
|
0.00004
|
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
|
rs377503376
|
0.00004
|
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
|
rs373130348
|
0.00004
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
NM_000091.5(COL4A3):c.*287G>A
|
rs573135458
|
0.00003
|
NM_000091.5(COL4A3):c.*660T>C
|
rs557009121
|
0.00003
|
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)
|
rs200738124
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000091.5(COL4A3):c.1798G>A (p.Asp600Asn)
|
rs781224368
|
0.00003
|
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys)
|
rs761717909
|
0.00003
|
NM_000091.5(COL4A3):c.3337+6G>C
|
rs1008678288
|
0.00003
|
NM_000091.5(COL4A3):c.3986C>G (p.Ser1329Cys)
|
rs1390815554
|
0.00003
|
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=)
|
rs374672854
|
0.00003
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser)
|
rs371452712
|
0.00003
|
NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser)
|
rs761262391
|
0.00003
|
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)
|
rs376550779
|
0.00003
|
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr)
|
rs772407219
|
0.00003
|
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu)
|
rs1412919917
|
0.00003
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.1396G>A (p.Asp466Asn)
|
rs541071302
|
0.00002
|
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr)
|
rs773674552
|
0.00002
|
NM_000091.5(COL4A3):c.2005C>T (p.Pro669Ser)
|
rs760523928
|
0.00002
|
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu)
|
rs759579342
|
0.00002
|
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)
|
rs755344973
|
0.00002
|
NM_000091.5(COL4A3):c.2747-4T>C
|
rs772016854
|
0.00002
|
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
|
rs758181560
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)
|
rs761518401
|
0.00002
|
NM_000091.5(COL4A3):c.4027+10C>T
|
rs778737711
|
0.00002
|
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup)
|
rs773268719
|
0.00002
|
NM_000091.5(COL4A3):c.468+9T>C
|
rs754471166
|
0.00002
|
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)
|
rs764451365
|
0.00002
|
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)
|
rs371173786
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
NM_000091.5(COL4A3):c.*1238T>C
|
rs1423033002
|
0.00001
|
NM_000091.5(COL4A3):c.*1340T>C
|
rs929078167
|
0.00001
|
NM_000091.5(COL4A3):c.*1634G>C
|
rs376587950
|
0.00001
|
NM_000091.5(COL4A3):c.*2308T>C
|
rs886055751
|
0.00001
|
NM_000091.5(COL4A3):c.*2795T>C
|
rs906294246
|
0.00001
|
NM_000091.5(COL4A3):c.*387A>C
|
rs971677230
|
0.00001
|
NM_000091.5(COL4A3):c.*501T>C
|
rs1210086779
|
0.00001
|
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)
|
rs778166354
|
0.00001
|
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys)
|
rs776919202
|
0.00001
|
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del)
|
rs762420854
|
0.00001
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.1423C>G (p.Leu475Val)
|
rs886055738
|
0.00001
|
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser)
|
rs1041119510
|
0.00001
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)
|
rs752819997
|
0.00001
|
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=)
|
rs758586879
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.2012G>A (p.Gly671Asp)
|
rs1085307955
|
0.00001
|
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)
|
rs754146345
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr)
|
rs572059687
|
0.00001
|
NM_000091.5(COL4A3):c.2531C>T (p.Pro844Leu)
|
rs1385197225
|
0.00001
|
NM_000091.5(COL4A3):c.2656+12T>A
|
rs748254625
|
0.00001
|
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)
|
rs1414411811
|
0.00001
|
NM_000091.5(COL4A3):c.2746+17C>T
|
rs765408537
|
0.00001
|
NM_000091.5(COL4A3):c.2750G>A (p.Ser917Asn)
|
rs773119622
|
0.00001
|
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val)
|
rs920413118
|
0.00001
|
NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala)
|
rs780287240
|
0.00001
|
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)
|
rs1265432530
|
0.00001
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
NM_000091.5(COL4A3):c.3210+8G>A
|
rs545181831
|
0.00001
|
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp)
|
rs766420056
|
0.00001
|
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
|
rs769395979
|
0.00001
|
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=)
|
rs770449474
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000091.5(COL4A3):c.3516G>A (p.Thr1172=)
|
rs758035504
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
|
rs759579368
|
0.00001
|
NM_000091.5(COL4A3):c.388-15T>C
|
rs762513527
|
0.00001
|
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)
|
rs886055742
|
0.00001
|
NM_000091.5(COL4A3):c.4153+10T>C
|
rs865866667
|
0.00001
|
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)
|
rs1291948462
|
0.00001
|
NM_000091.5(COL4A3):c.441G>A (p.Pro147=)
|
rs373559251
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)
|
rs976882559
|
0.00001
|
NM_000091.5(COL4A3):c.4643G>A (p.Cys1548Tyr)
|
rs745466617
|
0.00001
|
NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr)
|
rs774089446
|
0.00001
|
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)
|
rs541108316
|
0.00001
|
NM_000091.5(COL4A3):c.4781C>T (p.Thr1594Ile)
|
rs760284809
|
0.00001
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
|
rs759583948
|
0.00001
|
NM_000091.5(COL4A3):c.504T>C (p.Asp168=)
|
rs748974369
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)
|
rs759869958
|
0.00001
|
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu)
|
rs2069719935
|
0.00001
|
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)
|
rs573527081
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000091.5(COL4A3):c.782A>G (p.Lys261Arg)
|
rs769837137
|
0.00001
|
NM_000091.5(COL4A3):c.803G>A (p.Gly268Asp)
|
rs1448108531
|
0.00001
|
NM_000091.5(COL4A3):c.828+9T>C
|
rs2069991819
|
0.00001
|
NM_000091.5(COL4A3):c.*1032G>A
|
rs886055744
|
|
NM_000091.5(COL4A3):c.*1069_*1070del
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1069_*1070dup
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1070del
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1070dup
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1071G>A
|
rs866036167
|
|
NM_000091.5(COL4A3):c.*1739C>T
|
rs750139996
|
|
NM_000091.5(COL4A3):c.*1918T>C
|
rs767668198
|
|
NM_000091.5(COL4A3):c.*2048C>G
|
rs886055748
|
|
NM_000091.5(COL4A3):c.*2087A>T
|
rs2073823186
|
|
NM_000091.5(COL4A3):c.*2266A>G
|
rs2073829100
|
|
NM_000091.5(COL4A3):c.*2272T>C
|
rs886055750
|
|
NM_000091.5(COL4A3):c.*2836A>G
|
rs1030825188
|
|
NM_000091.5(COL4A3):c.*2853A>C
|
rs768580153
|
|
NM_000091.5(COL4A3):c.*454G>T
|
rs2073771672
|
|
NM_000091.5(COL4A3):c.*459T>C
|
rs1041353391
|
|
NM_000091.5(COL4A3):c.*656T>A
|
rs538761832
|
|
NM_000091.5(COL4A3):c.1006G>A (p.Gly336Ser)
|
|
|
NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)
|
|
|
NM_000091.5(COL4A3):c.1029+4A>G
|
rs2125947156
|
|
NM_000091.5(COL4A3):c.1029A>C (p.Pro343=)
|
|
|
NM_000091.5(COL4A3):c.1030A>T (p.Thr344Ser)
|
|
|
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
|
rs2070429834
|
|
NM_000091.5(COL4A3):c.1034A>T (p.Glu345Val)
|
rs951964916
|
|
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)
|
rs767943108
|
|
NM_000091.5(COL4A3):c.1099G>T (p.Ala367Ser)
|
|
|
NM_000091.5(COL4A3):c.1102C>T (p.Arg368Cys)
|
|
|
NM_000091.5(COL4A3):c.1114G>A (p.Gly372Ser)
|
rs1275209481
|
|
NM_000091.5(COL4A3):c.1115-11T>C
|
|
|
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)
|
rs760049264
|
|
NM_000091.5(COL4A3):c.1150+4T>A
|
rs200061201
|
|
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del)
|
rs1553755078
|
|
NM_000091.5(COL4A3):c.1156T>C (p.Ser386Pro)
|
|
|
NM_000091.5(COL4A3):c.1166G>C (p.Gly389Ala)
|
|
|
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)
|
rs2070734491
|
|
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg)
|
rs2070734616
|
|
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)
|
rs1574727988
|
|
NM_000091.5(COL4A3):c.1193G>A (p.Gly398Asp)
|
rs2070735812
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)
|
|
|
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
|
rs2070738434
|
|
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg)
|
|
|
NM_000091.5(COL4A3):c.1253G>A (p.Gly418Glu)
|
|
|
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu)
|
rs2070741592
|
|
NM_000091.5(COL4A3):c.1307G>A (p.Gly436Glu)
|
|
|
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
|
|
|
NM_000091.5(COL4A3):c.1307G>T (p.Gly436Val)
|
rs1237274947
|
|
NM_000091.5(COL4A3):c.1309C>T (p.Pro437Ser)
|
rs763403545
|
|
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)
|
rs369557944
|
|
NM_000091.5(COL4A3):c.1316-3T>C
|
|
|
NM_000091.5(COL4A3):c.1325T>C (p.Val442Ala)
|
rs2125981003
|
|
NM_000091.5(COL4A3):c.1331G>A (p.Arg444His)
|
|
|
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg)
|
|
|
NM_000091.5(COL4A3):c.1350T>A (p.Asp450Glu)
|
rs2125981065
|
|
NM_000091.5(COL4A3):c.1350_1352delinsACG (p.Asp450_His451delinsGluArg)
|
rs1559881247
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
NM_000091.5(COL4A3):c.1379C>T (p.Pro460Leu)
|
|
|
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)
|
rs1135401954
|
|
NM_000091.5(COL4A3):c.1393G>A (p.Val465Ile)
|
|
|
NM_000091.5(COL4A3):c.1409-11T>A
|
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
NM_000091.5(COL4A3):c.1418G>A (p.Gly473Asp)
|
|
|
NM_000091.5(COL4A3):c.1424T>C (p.Leu475Pro)
|
|
|
NM_000091.5(COL4A3):c.1447C>T (p.Pro483Ser)
|
|
|
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)
|
rs745472969
|
|
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg)
|
rs1553749403
|
|
NM_000091.5(COL4A3):c.145G>C (p.Gly49Arg)
|
|
|
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
|
rs1434266764
|
|
NM_000091.5(COL4A3):c.1527G>C (p.Leu509Phe)
|
rs2125989308
|
|
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)
|
rs2071142257
|
|
NM_000091.5(COL4A3):c.1576-9C>G
|
|
|
NM_000091.5(COL4A3):c.1583C>T (p.Pro528Leu)
|
|
|
NM_000091.5(COL4A3):c.1617A>C (p.Glu539Asp)
|
rs2071190170
|
|
NM_000091.5(COL4A3):c.161C>T (p.Pro54Leu)
|
|
|
NM_000091.5(COL4A3):c.1652G>A (p.Gly551Asp)
|
|
|
NM_000091.5(COL4A3):c.1667C>G (p.Pro556Arg)
|
|
|
NM_000091.5(COL4A3):c.1667C>T (p.Pro556Leu)
|
|
|
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
|
rs2071193842
|
|
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)
|
rs1553757060
|
|
NM_000091.5(COL4A3):c.1706G>A (p.Gly569Glu)
|
rs2071195158
|
|
NM_000091.5(COL4A3):c.170C>A (p.Pro57His)
|
|
|
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala)
|
rs2071196765
|
|
NM_000091.5(COL4A3):c.1752C>T (p.Gly584=)
|
|
|
NM_000091.5(COL4A3):c.1753G>A (p.Glu585Lys)
|
|
|
NM_000091.5(COL4A3):c.1759-11T>A
|
rs1433223189
|
|
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
|
|
|
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala)
|
rs2071331630
|
|
NM_000091.5(COL4A3):c.1813G>T (p.Gly605Trp)
|
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
NM_000091.5(COL4A3):c.1832G>A (p.Gly611Glu)
|
rs2125996366
|
|
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
|
rs2071335952
|
|
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu)
|
rs2071336508
|
|
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)
|
rs771390525
|
|
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
|
rs2125996486
|
|
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)
|
rs2125996501
|
|
NM_000091.5(COL4A3):c.1883G>A (p.Gly628Asp)
|
rs2125996545
|
|
NM_000091.5(COL4A3):c.1892G>A (p.Gly631Glu)
|
rs1315862965
|
|
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val)
|
rs1315862965
|
|
NM_000091.5(COL4A3):c.1894G>A (p.Val632Ile)
|
|
|
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)
|
rs917643323
|
|
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=)
|
rs1574764067
|
|
NM_000091.5(COL4A3):c.1935G>A (p.Arg645=)
|
|
|
NM_000091.5(COL4A3):c.1937G>A (p.Gly646Glu)
|
rs2106124459
|
|
NM_000091.5(COL4A3):c.1957C>A (p.Pro653Thr)
|
rs2071566860
|
|
NM_000091.5(COL4A3):c.1969C>T (p.Pro657Ser)
|
|
|
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu)
|
rs2106124698
|
|
NM_000091.5(COL4A3):c.1972C>G (p.Pro658Ala)
|
rs749751219
|
|
NM_000091.5(COL4A3):c.1972C>T (p.Pro658Ser)
|
rs749751219
|
|
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)
|
rs2071568063
|
|
NM_000091.5(COL4A3):c.1977A>G (p.Gly659=)
|
|
|
NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)
|
|
|
NM_000091.5(COL4A3):c.1987C>G (p.Pro663Ala)
|
rs747891356
|
|
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)
|
rs747891356
|
|
NM_000091.5(COL4A3):c.1990C>T (p.Pro664Ser)
|
|
|
NM_000091.5(COL4A3):c.2021-3A>C
|
|
|
NM_000091.5(COL4A3):c.2021-9G>C
|
rs773021303
|
|
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)
|
rs1354756195
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)
|
|
|
NM_000091.5(COL4A3):c.2066G>A (p.Gly689Glu)
|
rs2071652371
|
|
NM_000091.5(COL4A3):c.2075G>C (p.Gly692Ala)
|
|
|
NM_000091.5(COL4A3):c.2094A>T (p.Gly698=)
|
|
|
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=)
|
rs1238746236
|
|
NM_000091.5(COL4A3):c.2134G>A (p.Gly712Ser)
|
|
|
NM_000091.5(COL4A3):c.2134G>C (p.Gly712Arg)
|
|
|
NM_000091.5(COL4A3):c.2156C>T (p.Ser719Leu)
|
|
|
NM_000091.5(COL4A3):c.2170G>A (p.Gly724Arg)
|
|
|
NM_000091.5(COL4A3):c.2179G>A (p.Gly727Arg)
|
|
|
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu)
|
rs2106147306
|
|
NM_000091.5(COL4A3):c.2184G>T (p.Glu728Asp)
|
|
|
NM_000091.5(COL4A3):c.2185C>A (p.Pro729Thr)
|
rs2071837772
|
|
NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg)
|
rs2106147444
|
|
NM_000091.5(COL4A3):c.2189G>C (p.Gly730Ala)
|
|
|
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=)
|
rs1251724413
|
|
NM_000091.5(COL4A3):c.2203C>T (p.Pro735Ser)
|
|
|
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)
|
rs773317939
|
|
NM_000091.5(COL4A3):c.2210T>A (p.Leu737His)
|
rs760719817
|
|
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=)
|
rs1574774667
|
|
NM_000091.5(COL4A3):c.223C>A (p.Gln75Lys)
|
|
|
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)
|
rs2071886531
|
|
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr)
|
|
|
NM_000091.5(COL4A3):c.232A>C (p.Lys78Gln)
|
|
|
NM_000091.5(COL4A3):c.232A>G (p.Lys78Glu)
|
rs760637313
|
|
NM_000091.5(COL4A3):c.2350A>G (p.Asn784Asp)
|
|
|
NM_000091.5(COL4A3):c.2355A>C (p.Glu785Asp)
|
rs2106152150
|
|
NM_000091.5(COL4A3):c.2374+5A>C
|
|
|
NM_000091.5(COL4A3):c.2374+9dup
|
rs1553759691
|
|
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu)
|
rs1559895213
|
|
NM_000091.5(COL4A3):c.2383G>C (p.Gly795Arg)
|
rs2071916580
|
|
NM_000091.5(COL4A3):c.2411G>A (p.Gly804Glu)
|
|
|
NM_000091.5(COL4A3):c.2411G>T (p.Gly804Val)
|
rs2106154204
|
|
NM_000091.5(COL4A3):c.2420G>A (p.Gly807Glu)
|
|
|
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
|
|
|
NM_000091.5(COL4A3):c.2434G>C (p.Gly812Arg)
|
|
|
NM_000091.5(COL4A3):c.2437C>T (p.Pro813Ser)
|
|
|
NM_000091.5(COL4A3):c.2444G>A (p.Gly815Glu)
|
rs2106154480
|
|
NM_000091.5(COL4A3):c.2471G>A (p.Gly824Glu)
|
|
|
NM_000091.5(COL4A3):c.247C>G (p.Leu83Val)
|
|
|
NM_000091.5(COL4A3):c.2489-3C>T
|
|
|
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)
|
rs779489401
|
|
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)
|
rs2072040353
|
|
NM_000091.5(COL4A3):c.2509C>A (p.Pro837Thr)
|
rs2106163548
|
|
NM_000091.5(COL4A3):c.2522C>T (p.Pro841Leu)
|
|
|
NM_000091.5(COL4A3):c.2525G>A (p.Gly842Glu)
|
|
|
NM_000091.5(COL4A3):c.2548G>A (p.Gly850Arg)
|
|
|
NM_000091.5(COL4A3):c.2562A>C (p.Glu854Asp)
|
|
|
NM_000091.5(COL4A3):c.2564C>G (p.Thr855Ser)
|
|
|
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
|
|
|
NM_000091.5(COL4A3):c.2572C>T (p.Pro858Ser)
|
|
|
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
|
|
|
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)
|
rs1559897190
|
|
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg)
|
rs2106164384
|
|
NM_000091.5(COL4A3):c.2608C>G (p.Leu870Val)
|
|
|
NM_000091.5(COL4A3):c.2610G>A (p.Leu870=)
|
rs886039889
|
|
NM_000091.5(COL4A3):c.2618G>A (p.Arg873Lys)
|
|
|
NM_000091.5(COL4A3):c.2620G>A (p.Gly874Arg)
|
rs2106164540
|
|
NM_000091.5(COL4A3):c.2636del (p.Pro879fs)
|
rs2106164640
|
|
NM_000091.5(COL4A3):c.2648G>A (p.Gly883Glu)
|
rs2106164814
|
|
NM_000091.5(COL4A3):c.2657-1G>T
|
rs373324875
|
|
NM_000091.5(COL4A3):c.2657-6C>T
|
|
|
NM_000091.5(COL4A3):c.2711G>T (p.Gly904Val)
|
rs1174417447
|
|
NM_000091.5(COL4A3):c.2714C>T (p.Pro905Leu)
|
|
|
NM_000091.5(COL4A3):c.2747-11C>A
|
rs886055739
|
|
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)
|
rs200873401
|
|
NM_000091.5(COL4A3):c.277A>T (p.Arg93Trp)
|
|
|
NM_000091.5(COL4A3):c.2786C>A (p.Thr929Asn)
|
|
|
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
|
|
|
NM_000091.5(COL4A3):c.2805A>C (p.Glu935Asp)
|
rs2106174959
|
|
NM_000091.5(COL4A3):c.283A>C (p.Ile95Leu)
|
|
|
NM_000091.5(COL4A3):c.2843C>T (p.Ser948Phe)
|
|
|
NM_000091.5(COL4A3):c.287G>A (p.Ser96Asn)
|
rs2125906629
|
|
NM_000091.5(COL4A3):c.2881+6G>T
|
rs886055740
|
|
NM_000091.5(COL4A3):c.288T>A (p.Ser96Arg)
|
|
|
NM_000091.5(COL4A3):c.2923C>G (p.Pro975Ala)
|
|
|
NM_000091.5(COL4A3):c.2930T>G (p.Met977Arg)
|
|
|
NM_000091.5(COL4A3):c.2935G>A (p.Gly979Ser)
|
rs948395447
|
|
NM_000091.5(COL4A3):c.293T>G (p.Leu98Trp)
|
rs768983795
|
|
NM_000091.5(COL4A3):c.295C>G (p.Pro99Ala)
|
rs774434848
|
|
NM_000091.5(COL4A3):c.2966C>A (p.Pro989Gln)
|
|
|
NM_000091.5(COL4A3):c.2972G>T (p.Gly991Val)
|
|
|
NM_000091.5(COL4A3):c.2981-10T>A
|
rs2106205916
|
|
NM_000091.5(COL4A3):c.2981G>T (p.Gly994Val)
|
rs1574803132
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.2992G>T (p.Asp998Tyr)
|
rs2106206059
|
|
NM_000091.5(COL4A3):c.3022C>A (p.Pro1008Thr)
|
|
|
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala)
|
rs1204230457
|
|
NM_000091.5(COL4A3):c.3040C>A (p.Pro1014Thr)
|
|
|
NM_000091.5(COL4A3):c.3040C>G (p.Pro1014Ala)
|
|
|
NM_000091.5(COL4A3):c.3069A>T (p.Pro1023=)
|
|
|
NM_000091.5(COL4A3):c.3070+4A>G
|
|
|
NM_000091.5(COL4A3):c.3071G>T (p.Gly1024Val)
|
|
|
NM_000091.5(COL4A3):c.3100T>A (p.Phe1034Ile)
|
|
|
NM_000091.5(COL4A3):c.3115G>C (p.Gly1039Arg)
|
rs2072647370
|
|
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)
|
rs2072647561
|
|
NM_000091.5(COL4A3):c.3151G>A (p.Gly1051Arg)
|
|
|
NM_000091.5(COL4A3):c.3156_3164del (p.Asp1052_Gly1054del)
|
rs2106210740
|
|
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3])
|
rs1553762295
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.3209C>T (p.Thr1070Met)
|
|
|
NM_000091.5(COL4A3):c.3211-13G>A
|
rs200555661
|
|
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly)
|
rs766520935
|
|
NM_000091.5(COL4A3):c.3236T>A (p.Met1079Lys)
|
|
|
NM_000091.5(COL4A3):c.3247G>C (p.Gly1083Arg)
|
rs2106226509
|
|
NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val)
|
rs2072858880
|
|
NM_000091.5(COL4A3):c.3262C>A (p.Pro1088Thr)
|
rs2072859830
|
|
NM_000091.5(COL4A3):c.3266G>T (p.Gly1089Val)
|
|
|
NM_000091.5(COL4A3):c.3269C>T (p.Pro1090Leu)
|
|
|
NM_000091.5(COL4A3):c.3282_3302dup (p.Gly1101_Ala1102insGlyProAlaGlyProGluGly)
|
|
|
NM_000091.5(COL4A3):c.3290C>G (p.Ala1097Gly)
|
|
|
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
|
rs560592940
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile)
|
rs1574813579
|
|
NM_000091.5(COL4A3):c.3328G>C (p.Gly1110Arg)
|
|
|
NM_000091.5(COL4A3):c.3331C>T (p.Leu1111Phe)
|
|
|
NM_000091.5(COL4A3):c.3337+3A>G
|
|
|
NM_000091.5(COL4A3):c.3337+6G>T
|
|
|
NM_000091.5(COL4A3):c.335G>A (p.Gly112Asp)
|
|
|
NM_000091.5(COL4A3):c.3374G>A (p.Gly1125Glu)
|
|
|
NM_000091.5(COL4A3):c.3392G>A (p.Gly1131Asp)
|
|
|
NM_000091.5(COL4A3):c.3416C>T (p.Pro1139Leu)
|
rs1057516186
|
|
NM_000091.5(COL4A3):c.3418+6A>G
|
|
|
NM_000091.5(COL4A3):c.3419G>A (p.Gly1140Asp)
|
|
|
NM_000091.5(COL4A3):c.3449C>T (p.Pro1150Leu)
|
|
|
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp)
|
|
|
NM_000091.5(COL4A3):c.3471A>C (p.Gln1157His)
|
rs761971869
|
|
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp)
|
|
|
NM_000091.5(COL4A3):c.3515C>T (p.Thr1172Met)
|
|
|
NM_000091.5(COL4A3):c.3518-15G>C
|
rs2072979600
|
|
NM_000091.5(COL4A3):c.353G>A (p.Gly118Glu)
|
|
|
NM_000091.5(COL4A3):c.3546A>T (p.Arg1182Ser)
|
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3548G>A (p.Gly1183Glu)
|
|
|
NM_000091.5(COL4A3):c.3554C>G (p.Pro1185Arg)
|
|
|
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)
|
rs753945261
|
|
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)
|
rs920061910
|
|
NM_000091.5(COL4A3):c.3595T>C (p.Phe1199Leu)
|
|
|
NM_000091.5(COL4A3):c.3607C>T (p.Pro1203Ser)
|
|
|
NM_000091.5(COL4A3):c.3610G>A (p.Gly1204Ser)
|
rs2106246879
|
|
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu)
|
rs1574823355
|
|
NM_000091.5(COL4A3):c.362G>T (p.Gly121Val)
|
rs1230199187
|
|
NM_000091.5(COL4A3):c.3656G>T (p.Gly1219Val)
|
|
|
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg)
|
rs1229811135
|
|
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala)
|
rs766935732
|
|
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del)
|
rs756342074
|
|
NM_000091.5(COL4A3):c.3679C>G (p.Pro1227Ala)
|
|
|
NM_000091.5(COL4A3):c.3704C>G (p.Pro1235Arg)
|
|
|
NM_000091.5(COL4A3):c.3713C>G (p.Thr1238Arg)
|
|
|
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg)
|
rs2106247498
|
|
NM_000091.5(COL4A3):c.3716G>A (p.Gly1239Glu)
|
rs2106247510
|
|
NM_000091.5(COL4A3):c.3718A>T (p.Asn1240Tyr)
|
|
|
NM_000091.5(COL4A3):c.371G>T (p.Gly124Val)
|
rs748188535
|
|
NM_000091.5(COL4A3):c.3733G>A (p.Gly1245Ser)
|
rs2106247545
|
|
NM_000091.5(COL4A3):c.3734G>A (p.Gly1245Asp)
|
rs1275973987
|
|
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=)
|
rs2073099504
|
|
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)
|
rs761179248
|
|
NM_000091.5(COL4A3):c.3790A>G (p.Ile1264Val)
|
rs1553764410
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val)
|
rs2073148750
|
|
NM_000091.5(COL4A3):c.3864G>C (p.Met1288Ile)
|
|
|
NM_000091.5(COL4A3):c.386A>C (p.Lys129Thr)
|
rs886055737
|
|
NM_000091.5(COL4A3):c.3878G>A (p.Arg1293His)
|
|
|
NM_000091.5(COL4A3):c.388-8T>A
|
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
NM_000091.5(COL4A3):c.3908C>G (p.Pro1303Arg)
|
|
|
NM_000091.5(COL4A3):c.3925C>T (p.Pro1309Ser)
|
|
|
NM_000091.5(COL4A3):c.3926C>T (p.Pro1309Leu)
|
|
|
NM_000091.5(COL4A3):c.3948C>T (p.Gly1316=)
|
|
|
NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)
|
|
|
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg)
|
rs765661521
|
|
NM_000091.5(COL4A3):c.3956-8_3956-5del
|
rs779522146
|
|
NM_000091.5(COL4A3):c.3974G>T (p.Gly1325Val)
|
|
|
NM_000091.5(COL4A3):c.3983G>T (p.Gly1328Val)
|
|
|
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
|
|
|
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
|
rs757747350
|
|
NM_000091.5(COL4A3):c.4004C>A (p.Pro1335Gln)
|
|
|
NM_000091.5(COL4A3):c.4027+11G>T
|
rs191002419
|
|
NM_000091.5(COL4A3):c.4027G>A (p.Gly1343Ser)
|
|
|
NM_000091.5(COL4A3):c.4028-15T>C
|
rs764478470
|
|
NM_000091.5(COL4A3):c.4033C>T (p.Arg1345Cys)
|
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
NM_000091.5(COL4A3):c.4049C>T (p.Thr1350Ile)
|
rs2106270706
|
|
NM_000091.5(COL4A3):c.4057A>G (p.Ile1353Val)
|
|
|
NM_000091.5(COL4A3):c.4064C>T (p.Ser1355Phe)
|
|
|
NM_000091.5(COL4A3):c.4145G>T (p.Gly1382Val)
|
rs1574834554
|
|
NM_000091.5(COL4A3):c.416G>A (p.Gly139Glu)
|
rs2125911862
|
|
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)
|
|
|
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile)
|
|
|
NM_000091.5(COL4A3):c.4208G>A (p.Gly1403Glu)
|
|
|
NM_000091.5(COL4A3):c.4211C>T (p.Pro1404Leu)
|
|
|
NM_000091.5(COL4A3):c.4213G>C (p.Ala1405Pro)
|
|
|
NM_000091.5(COL4A3):c.4226G>A (p.Gly1409Asp)
|
|
|
NM_000091.5(COL4A3):c.4226_4227delinsAA (p.Gly1409Glu)
|
|
|
NM_000091.5(COL4A3):c.4227C>T (p.Gly1409=)
|
|
|
NM_000091.5(COL4A3):c.4235G>C (p.Gly1412Ala)
|
rs2073446714
|
|
NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr)
|
rs2073566607
|
|
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del)
|
|
|
NM_000091.5(COL4A3):c.4276C>A (p.Pro1426Thr)
|
|
|
NM_000091.5(COL4A3):c.4279G>C (p.Gly1427Arg)
|
rs2106283874
|
|
NM_000091.5(COL4A3):c.4294C>G (p.Arg1432Gly)
|
|
|
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly)
|
rs2106283943
|
|
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr)
|
rs2106284049
|
|
NM_000091.5(COL4A3):c.4316C>G (p.Ala1439Gly)
|
|
|
NM_000091.5(COL4A3):c.4324A>G (p.Thr1442Ala)
|
|
|
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del)
|
rs941454321
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
NM_000091.5(COL4A3):c.4381C>A (p.Pro1461Thr)
|
rs767367726
|
|
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)
|
rs2073573869
|
|
NM_000091.5(COL4A3):c.4396C>A (p.Pro1466Thr)
|
|
|
NM_000091.5(COL4A3):c.4403A>T (p.Tyr1468Phe)
|
rs2106284497
|
|
NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)
|
|
|
NM_000091.5(COL4A3):c.4414T>C (p.Ser1472Pro)
|
|
|
NM_000091.5(COL4A3):c.442-13_442-10del
|
|
|
NM_000091.5(COL4A3):c.4426G>A (p.Val1476Ile)
|
|
|
NM_000091.5(COL4A3):c.4459C>A (p.Leu1487Ile)
|
|
|
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)
|
rs1574840156
|
|
NM_000091.5(COL4A3):c.4463-18dup
|
|
|
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
|
rs1195144676
|
|
NM_000091.5(COL4A3):c.4501C>T (p.Pro1501Ser)
|
rs1195144676
|
|
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)
|
rs1553766363
|
|
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu)
|
rs1553766367
|
|
NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)
|
|
|
NM_000091.5(COL4A3):c.4552G>C (p.Asp1518His)
|
rs1559923319
|
|
NM_000091.5(COL4A3):c.4586T>C (p.Met1529Thr)
|
|
|
NM_000091.5(COL4A3):c.4652G>T (p.Cys1551Phe)
|
|
|
NM_000091.5(COL4A3):c.4661C>G (p.Pro1554Arg)
|
rs1221621618
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)
|
|
|
NM_000091.5(COL4A3):c.4673T>C (p.Ile1558Thr)
|
rs2073643599
|
|
NM_000091.5(COL4A3):c.4691C>T (p.Thr1564Ile)
|
rs886055743
|
|
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser)
|
rs2073644777
|
|
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
|
rs2073645172
|
|
NM_000091.5(COL4A3):c.4720T>C (p.Trp1574Arg)
|
rs2106289541
|
|
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter)
|
rs2106289552
|
|
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
|
rs2073646176
|
|
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr)
|
rs2073712176
|
|
NM_000091.5(COL4A3):c.4777G>A (p.Gly1593Ser)
|
|
|
NM_000091.5(COL4A3):c.4778G>T (p.Gly1593Val)
|
|
|
NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser)
|
rs760284809
|
|
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del)
|
rs775551399
|
|
NM_000091.5(COL4A3):c.4812C>G (p.Cys1604Trp)
|
rs1064796314
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
|
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
NM_000091.5(COL4A3):c.4925T>C (p.Phe1642Ser)
|
rs2106295148
|
|
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys)
|
rs2106295155
|
|
NM_000091.5(COL4A3):c.4929A>T (p.Arg1643Ser)
|
|
|
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs)
|
rs1553766929
|
|
NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg)
|
rs1553766932
|
|
NM_000091.5(COL4A3):c.4985G>A (p.Cys1662Tyr)
|
rs1339780318
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.525G>T (p.Leu175Phe)
|
|
|
NM_000091.5(COL4A3):c.565G>C (p.Gly189Arg)
|
rs1574690720
|
|
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile)
|
rs371173786
|
|
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)
|
rs749989473
|
|
NM_000091.5(COL4A3):c.593G>T (p.Gly198Val)
|
rs2125924674
|
|
NM_000091.5(COL4A3):c.610-11G>A
|
rs566045388
|
|
NM_000091.5(COL4A3):c.632C>G (p.Pro211Arg)
|
rs2125925060
|
|
NM_000091.5(COL4A3):c.646-13T>G
|
|
|
NM_000091.5(COL4A3):c.646G>A (p.Gly216Ser)
|
|
|
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)
|
rs1169752185
|
|
NM_000091.5(COL4A3):c.686G>A (p.Arg229Gln)
|
|
|
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu)
|
rs188942711
|
|
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
|
rs2069931154
|
|
NM_000091.5(COL4A3):c.712C>T (p.Pro238Ser)
|
|
|
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)
|
rs1574699782
|
|
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala)
|
rs1574699782
|
|
NM_000091.5(COL4A3):c.734T>C (p.Ile245Thr)
|
|
|
NM_000091.5(COL4A3):c.765G>C (p.Thr255=)
|
|
|
NM_000091.5(COL4A3):c.766-5G>A
|
rs751236477
|
|
NM_000091.5(COL4A3):c.789C>G (p.Asp263Glu)
|
rs779821655
|
|
NM_000091.5(COL4A3):c.794G>T (p.Gly265Val)
|
|
|
NM_000091.5(COL4A3):c.804C>T (p.Gly268=)
|
|
|
NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)
|
|
|
NM_000091.5(COL4A3):c.815C>T (p.Pro272Leu)
|
|
|
NM_000091.5(COL4A3):c.824C>T (p.Pro275Leu)
|
|
|
NM_000091.5(COL4A3):c.863G>T (p.Gly288Val)
|
rs2070037317
|
|
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
|
rs2070037501
|
|
NM_000091.5(COL4A3):c.881G>A (p.Gly294Asp)
|
rs1553753137
|
|
NM_000091.5(COL4A3):c.884T>G (p.Leu295Arg)
|
rs2125936511
|
|
NM_000091.5(COL4A3):c.889-3T>A
|
|
|
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
|
rs765318949
|
|
NM_000091.5(COL4A3):c.933+4T>C
|
|
|
NM_000091.5(COL4A3):c.935G>C (p.Gly312Ala)
|
|
|
NM_000091.5(COL4A3):c.943G>C (p.Gly315Arg)
|
|
|
NM_000091.5(COL4A3):c.979G>T (p.Gly327Cys)
|
|
|
NM_000091.5(COL4A3):c.988G>C (p.Gly330Arg)
|
|
|
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)
|
rs761819520
|
|