|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
|
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe)
|
rs200107989
|
0.00035
|
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00032
|
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
|
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)
|
rs201198284
|
0.00021
|
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00021
|
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
|
NM_000091.5(COL4A3):c.3224T>G (p.Leu1075Arg)
|
rs775116314
|
0.00012
|
|
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)
|
rs377136253
|
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.3227C>T (p.Pro1076Leu)
|
rs200984988
|
0.00010
|
|
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)
|
rs374427586
|
0.00010
|
|
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)
|
rs890999119
|
0.00009
|
|
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu)
|
rs368342782
|
0.00009
|
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00009
|
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00008
|
|
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)
|
rs377003650
|
0.00008
|
|
NM_000091.5(COL4A3):c.63G>A (p.Leu21=)
|
rs1036829250
|
0.00008
|
|
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)
|
rs921905047
|
0.00007
|
|
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.3228G>A (p.Pro1076=)
|
rs200125890
|
0.00006
|
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
|
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
|
rs772037798
|
0.00005
|
|
NM_000091.5(COL4A3):c.3100T>A (p.Phe1034Ile)
|
rs376750724
|
0.00005
|
|
NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)
|
rs781415019
|
0.00005
|
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00005
|
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
|
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
|
rs772164474
|
0.00004
|
|
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)
|
rs368434069
|
0.00004
|
|
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
|
rs558813497
|
0.00004
|
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
|
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)
|
rs200738124
|
0.00003
|
|
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)
|
rs760049264
|
0.00003
|
|
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=)
|
rs748691382
|
0.00003
|
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
|
NM_000091.5(COL4A3):c.1515C>T (p.Gly505=)
|
rs200416402
|
0.00003
|
|
NM_000091.5(COL4A3):c.1752C>T (p.Gly584=)
|
rs746928034
|
0.00003
|
|
NM_000091.5(COL4A3):c.275T>A (p.Val92Glu)
|
rs768404745
|
0.00003
|
|
NM_000091.5(COL4A3):c.2767G>A (p.Val923Ile)
|
rs917860017
|
0.00003
|
|
NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His)
|
rs201841428
|
0.00003
|
|
NM_000091.5(COL4A3):c.3878G>A (p.Arg1293His)
|
rs201095498
|
0.00003
|
|
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu)
|
rs1178734829
|
0.00003
|
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
0.00002
|
|
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)
|
rs373952897
|
0.00002
|
|
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr)
|
rs776039489
|
0.00002
|
|
NM_000091.5(COL4A3):c.3290C>G (p.Ala1097Gly)
|
rs762665490
|
0.00002
|
|
NM_000091.5(COL4A3):c.3609G>A (p.Pro1203=)
|
rs1045022382
|
0.00002
|
|
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)
|
rs761518401
|
0.00002
|
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
|
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile)
|
rs555034953
|
0.00002
|
|
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)
|
rs760846085
|
0.00002
|
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
|
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)
|
rs778166354
|
0.00001
|
|
NM_000091.5(COL4A3):c.1114+1G>T
|
rs1286895614
|
0.00001
|
|
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
|
rs1237274947
|
0.00001
|
|
NM_000091.5(COL4A3):c.1331G>A (p.Arg444His)
|
rs761355107
|
0.00001
|
|
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg)
|
rs760203599
|
0.00001
|
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00001
|
|
NM_000091.5(COL4A3):c.1408+1G>C
|
rs1185847791
|
0.00001
|
|
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser)
|
rs1041119510
|
0.00001
|
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
|
NM_000091.5(COL4A3):c.1523G>A (p.Gly508Asp)
|
rs757774756
|
0.00001
|
|
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)
|
rs779575469
|
0.00001
|
|
NM_000091.5(COL4A3):c.1622G>C (p.Gly541Ala)
|
rs1288801444
|
0.00001
|
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
|
NM_000091.5(COL4A3):c.1927+2T>C
|
rs1158937060
|
0.00001
|
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
|
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)
|
rs755344973
|
0.00001
|
|
NM_000091.5(COL4A3):c.2155T>C (p.Ser719Pro)
|
rs751113129
|
0.00001
|
|
NM_000091.5(COL4A3):c.2156C>T (p.Ser719Leu)
|
rs1164505506
|
0.00001
|
|
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)
|
rs1559897288
|
0.00001
|
|
NM_000091.5(COL4A3):c.26C>T (p.Pro9Leu)
|
rs773820821
|
0.00001
|
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
|
NM_000091.5(COL4A3):c.283A>C (p.Ile95Leu)
|
rs201222896
|
0.00001
|
|
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)
|
rs1453590085
|
0.00001
|
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
|
NM_000091.5(COL4A3):c.3150G>A (p.Gln1050=)
|
rs1032938979
|
0.00001
|
|
NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala)
|
rs1043352257
|
0.00001
|
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
|
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)
|
rs1192750535
|
0.00001
|
|
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp)
|
rs766420056
|
0.00001
|
|
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
|
rs560592940
|
0.00001
|
|
NM_000091.5(COL4A3):c.3338-1G>A
|
rs1344548642
|
0.00001
|
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
|
NM_000091.5(COL4A3):c.3672A>G (p.Pro1224=)
|
rs768260547
|
0.00001
|
|
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)
|
rs1400784100
|
0.00001
|
|
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)
|
rs375290088
|
0.00001
|
|
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)
|
rs886055742
|
0.00001
|
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
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.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
|
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)
|
rs541108316
|
0.00001
|
|
NM_000091.5(COL4A3):c.4755+1G>A
|
rs1346132592
|
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.520G>A (p.Gly174Arg)
|
rs1014839148
|
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.804C>T (p.Gly268=)
|
rs567238530
|
0.00001
|
|
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp)
|
rs566993466
|
0.00001
|
|
NM_000091.5(COL4A3):c.1000G>C (p.Asp334His)
|
|
|
|
NM_000091.5(COL4A3):c.1029+1G>C
|
|
|
|
NM_000091.5(COL4A3):c.1029+4del
|
|
|
|
NM_000091.5(COL4A3):c.1046_1047del (p.Thr349fs)
|
|
|
|
NM_000091.5(COL4A3):c.1100C>T (p.Ala367Val)
|
|
|
|
NM_000091.5(COL4A3):c.1102C>T (p.Arg368Cys)
|
rs778397487
|
|
|
NM_000091.5(COL4A3):c.1114G>T (p.Gly372Cys)
|
|
|
|
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)
|
rs2125961933
|
|
|
NM_000091.5(COL4A3):c.1143_1150+1del
|
rs1274459294
|
|
|
NM_000091.5(COL4A3):c.1150+5G>A
|
rs751399780
|
|
|
NM_000091.5(COL4A3):c.1151-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.1151G>T (p.Gly384Val)
|
|
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
|
NM_000091.5(COL4A3):c.1243G>A (p.Gly415Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1249C>T (p.Pro417Ser)
|
|
|
|
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg)
|
rs2469634498
|
|
|
NM_000091.5(COL4A3):c.127_128delinsCA (p.Gly43Gln)
|
|
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
|
NM_000091.5(COL4A3):c.131C>A (p.Ala44Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1321dup (p.Ile441fs)
|
|
|
|
NM_000091.5(COL4A3):c.1337G>T (p.Gly446Val)
|
|
|
|
NM_000091.5(COL4A3):c.1349_1352delinsTTCG (p.Asp450_His451delinsValArg)
|
|
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
rs2070897613
|
|
|
NM_000091.5(COL4A3):c.1366T>G (p.Tyr456Asp)
|
|
|
|
NM_000091.5(COL4A3):c.1400G>A (p.Gly467Glu)
|
|
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
|
NM_000091.5(COL4A3):c.1447C>T (p.Pro483Ser)
|
rs2469657520
|
|
|
NM_000091.5(COL4A3):c.1477G>A (p.Gly493Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1504+4_1504+6delinsAAT
|
|
|
|
NM_000091.5(COL4A3):c.1537C>T (p.Pro513Ser)
|
|
|
|
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)
|
rs2071142257
|
|
|
NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)
|
rs1574745989
|
|
|
NM_000091.5(COL4A3):c.1585G>C (p.Gly529Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
|
NM_000091.5(COL4A3):c.1595G>A (p.Gly532Asp)
|
|
|
|
NM_000091.5(COL4A3):c.163G>A (p.Gly55Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu)
|
rs2469684422
|
|
|
NM_000091.5(COL4A3):c.172G>C (p.Gly58Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1744C>G (p.Pro582Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1752del (p.Glu585fs)
|
|
|
|
NM_000091.5(COL4A3):c.1758+1G>A
|
rs1553757096
|
|
|
NM_000091.5(COL4A3):c.1774A>C (p.Lys592Gln)
|
|
|
|
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg)
|
rs2469699523
|
|
|
NM_000091.5(COL4A3):c.1820del (p.Pro607fs)
|
|
|
|
NM_000091.5(COL4A3):c.1822G>C (p.Gly608Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1832G>T (p.Gly611Val)
|
|
|
|
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.1880A>G (p.Gln627Arg)
|
|
|
|
NM_000091.5(COL4A3):c.1892G>C (p.Gly631Ala)
|
|
|
|
NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg)
|
rs1060499696
|
|
|
NM_000091.5(COL4A3):c.1928-12A>G
|
|
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
|
NM_000091.5(COL4A3):c.1937G>A (p.Gly646Glu)
|
rs2106124459
|
|
|
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs)
|
rs2071566709
|
|
|
NM_000091.5(COL4A3):c.1963C>T (p.Pro655Ser)
|
|
|
|
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)
|
rs2071568063
|
|
|
NM_000091.5(COL4A3):c.2003_2004delinsA (p.Gly668fs)
|
|
|
|
NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter)
|
|
|
|
NM_000091.5(COL4A3):c.2011G>C (p.Gly671Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2020+1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2030G>T (p.Gly677Val)
|
|
|
|
NM_000091.5(COL4A3):c.2039G>A (p.Gly680Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2053C>G (p.Pro685Ala)
|
|
|
|
NM_000091.5(COL4A3):c.2126-3T>C
|
|
|
|
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)
|
rs1553759430
|
|
|
NM_000091.5(COL4A3):c.2143G>A (p.Gly715Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2167C>T (p.Pro723Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu)
|
rs2106147306
|
|
|
NM_000091.5(COL4A3):c.2188G>A (p.Gly730Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu)
|
rs2071838155
|
|
|
NM_000091.5(COL4A3):c.2223+1G>A
|
rs1553759476
|
|
|
NM_000091.5(COL4A3):c.2223+5G>A
|
|
|
|
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=)
|
rs1574774667
|
|
|
NM_000091.5(COL4A3):c.2257G>C (p.Gly753Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)
|
rs770920210
|
|
|
NM_000091.5(COL4A3):c.2267G>C (p.Gly756Ala)
|
|
|
|
NM_000091.5(COL4A3):c.227G>T (p.Gly76Val)
|
|
|
|
NM_000091.5(COL4A3):c.2288A>G (p.Asn763Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2296G>A (p.Glu766Lys)
|
|
|
|
NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg)
|
rs2469754387
|
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
|
NM_000091.5(COL4A3):c.2339del (p.Gly780fs)
|
|
|
|
NM_000091.5(COL4A3):c.234+1_234+2del
|
|
|
|
NM_000091.5(COL4A3):c.234+1del
|
|
|
|
NM_000091.5(COL4A3):c.2347G>C (p.Gly783Arg)
|
|
|
|
NM_000091.5(COL4A3):c.235-2A>T
|
|
|
|
NM_000091.5(COL4A3):c.2355A>C (p.Glu785Asp)
|
rs2106152150
|
|
|
NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu)
|
rs2469758704
|
|
|
NM_000091.5(COL4A3):c.2392G>A (p.Gly798Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
|
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
|
rs774838919
|
|
|
NM_000091.5(COL4A3):c.2434G>C (p.Gly812Arg)
|
rs774838919
|
|
|
NM_000091.5(COL4A3):c.245G>T (p.Gly82Val)
|
|
|
|
NM_000091.5(COL4A3):c.2489-12A>T
|
|
|
|
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser)
|
rs2072039168
|
|
|
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.2507G>T (p.Gly836Val)
|
|
|
|
NM_000091.5(COL4A3):c.2564_2565del (p.Thr855fs)
|
|
|
|
NM_000091.5(COL4A3):c.2588A>T (p.His863Leu)
|
|
|
|
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.2621_2622delinsT (p.Gly874fs)
|
rs1553760257
|
|
|
NM_000091.5(COL4A3):c.2626C>T (p.Pro876Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2629G>A (p.Gly877Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2656+1G>T
|
rs2469770966
|
|
|
NM_000091.5(COL4A3):c.2657-13_2657-11del
|
|
|
|
NM_000091.5(COL4A3):c.2657-1G>A
|
rs373324875
|
|
|
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp)
|
rs1553760558
|
|
|
NM_000091.5(COL4A3):c.272G>T (p.Gly91Val)
|
|
|
|
NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val)
|
rs1445819062
|
|
|
NM_000091.5(COL4A3):c.275dup (p.Arg93fs)
|
|
|
|
NM_000091.5(COL4A3):c.2765G>A (p.Gly922Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
|
NM_000091.5(COL4A3):c.279+1G>A
|
rs202001097
|
|
|
NM_000091.5(COL4A3):c.279+1G>T
|
rs202001097
|
|
|
NM_000091.5(COL4A3):c.280-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.2806C>A (p.Gln936Lys)
|
|
|
|
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)
|
rs1559899600
|
|
|
NM_000091.5(COL4A3):c.2819G>T (p.Gly940Val)
|
|
|
|
NM_000091.5(COL4A3):c.2827G>C (p.Gly943Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
|
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
|
rs2106175500
|
|
|
NM_000091.5(COL4A3):c.2934A>T (p.Pro978=)
|
rs2106201680
|
|
|
NM_000091.5(COL4A3):c.2945G>A (p.Gly982Asp)
|
|
|
|
NM_000091.5(COL4A3):c.2947C>A (p.Leu983Ile)
|
|
|
|
NM_000091.5(COL4A3):c.294G>C (p.Leu98Phe)
|
|
|
|
NM_000091.5(COL4A3):c.2954G>A (p.Gly985Glu)
|
|
|
|
NM_000091.5(COL4A3):c.2957_2972del (p.Leu986fs)
|
|
|
|
NM_000091.5(COL4A3):c.2962G>C (p.Gly988Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2980+19T>C
|
|
|
|
NM_000091.5(COL4A3):c.2980+2T>G
|
|
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
|
NM_000091.5(COL4A3):c.2993A>G (p.Asp998Gly)
|
|
|
|
NM_000091.5(COL4A3):c.3001A>G (p.Ser1001Gly)
|
|
|
|
NM_000091.5(COL4A3):c.3007G>A (p.Gly1003Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala)
|
rs1204230457
|
|
|
NM_000091.5(COL4A3):c.3035G>A (p.Gly1012Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3059T>C (p.Met1020Thr)
|
rs202071907
|
|
|
NM_000091.5(COL4A3):c.3061G>A (p.Gly1021Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3064A>G (p.Met1022Val)
|
|
|
|
NM_000091.5(COL4A3):c.3071-2A>G
|
|
|
|
NM_000091.5(COL4A3):c.3079G>A (p.Gly1027Arg)
|
|
|
|
NM_000091.5(COL4A3):c.308G>A (p.Gly103Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3097G>A (p.Gly1033Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3104C>T (p.Pro1035Leu)
|
|
|
|
NM_000091.5(COL4A3):c.3106G>A (p.Gly1036Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)
|
rs2072647561
|
|
|
NM_000091.5(COL4A3):c.3131C>G (p.Pro1044Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3133G>C (p.Gly1045Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3181G>T (p.Gly1061Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3194G>A (p.Gly1065Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
|
NM_000091.5(COL4A3):c.3203G>A (p.Gly1068Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3211-11C>G
|
|
|
|
NM_000091.5(COL4A3):c.3211-1G>T
|
|
|
|
NM_000091.5(COL4A3):c.324+1G>A
|
rs2125906801
|
|
|
NM_000091.5(COL4A3):c.3248G>A (p.Gly1083Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3254T>C (p.Met1085Thr)
|
|
|
|
NM_000091.5(COL4A3):c.3256G>A (p.Gly1086Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)
|
rs1574813350
|
|
|
NM_000091.5(COL4A3):c.3269C>T (p.Pro1090Leu)
|
rs936562088
|
|
|
NM_000091.5(COL4A3):c.329C>T (p.Thr110Ile)
|
|
|
|
NM_000091.5(COL4A3):c.3300G>C (p.Glu1100Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3310G>C (p.Gly1104Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3311G>C (p.Gly1104Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
|
NM_000091.5(COL4A3):c.3326C>T (p.Pro1109Leu)
|
|
|
|
NM_000091.5(COL4A3):c.3342dup (p.Pro1115fs)
|
|
|
|
NM_000091.5(COL4A3):c.3363G>A (p.Leu1121=)
|
|
|
|
NM_000091.5(COL4A3):c.3386T>C (p.Leu1129Pro)
|
|
|
|
NM_000091.5(COL4A3):c.3395del (p.Pro1132fs)
|
|
|
|
NM_000091.5(COL4A3):c.3409G>A (p.Gly1137Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3409G>C (p.Gly1137Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3418G>T (p.Gly1140Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3419-2A>C
|
|
|
|
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
|
rs1489682011
|
|
|
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala)
|
rs1408412826
|
|
|
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)
|
rs749383170
|
|
|
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp)
|
rs867868120
|
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
|
NM_000091.5(COL4A3):c.3463_3464delinsAA (p.Gly1155Asn)
|
|
|
|
NM_000091.5(COL4A3):c.346C>T (p.Pro116Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3475C>T (p.Arg1159Cys)
|
|
|
|
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp)
|
rs2469863799
|
|
|
NM_000091.5(COL4A3):c.3517+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.3520T>G (p.Leu1174Val)
|
|
|
|
NM_000091.5(COL4A3):c.3539G>T (p.Gly1180Val)
|
|
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
|
NM_000091.5(COL4A3):c.3566-11C>T
|
|
|
|
NM_000091.5(COL4A3):c.3567A>T (p.Gly1189=)
|
|
|
|
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)
|
rs1574823172
|
|
|
NM_000091.5(COL4A3):c.357del (p.Val120fs)
|
|
|
|
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp)
|
rs755849032
|
|
|
NM_000091.5(COL4A3):c.3598C>T (p.Pro1200Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3606C>T (p.Leu1202=)
|
rs1186120881
|
|
|
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)
|
rs1167411352
|
|
|
NM_000091.5(COL4A3):c.3620G>T (p.Gly1207Val)
|
|
|
|
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg)
|
rs1229811135
|
|
|
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs)
|
rs764376138
|
|
|
NM_000091.5(COL4A3):c.3674G>A (p.Gly1225Glu)
|
|
|
|
NM_000091.5(COL4A3):c.3682G>A (p.Gly1228Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3701T>C (p.Ile1234Thr)
|
|
|
|
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg)
|
rs2106247498
|
|
|
NM_000091.5(COL4A3):c.3733G>C (p.Gly1245Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3780G>T (p.Gly1260=)
|
|
|
|
NM_000091.5(COL4A3):c.3801A>C (p.Lys1267Asn)
|
|
|
|
NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3839G>A (p.Gly1280Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3853G>A (p.Ala1285Thr)
|
|
|
|
NM_000091.5(COL4A3):c.3856G>A (p.Gly1286Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3875G>C (p.Gly1292Ala)
|
|
|
|
NM_000091.5(COL4A3):c.388-10T>C
|
|
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
|
NM_000091.5(COL4A3):c.3882+5G>C
|
|
|
|
NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg)
|
rs2469904729
|
|
|
NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3925C>T (p.Pro1309Ser)
|
rs769522094
|
|
|
NM_000091.5(COL4A3):c.3965G>A (p.Gly1322Asp)
|
|
|
|
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
|
rs757747350
|
|
|
NM_000091.5(COL4A3):c.4009G>A (p.Gly1337Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4027+1del
|
|
|
|
NM_000091.5(COL4A3):c.4028-2A>C
|
|
|
|
NM_000091.5(COL4A3):c.4028-2A>G
|
|
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
|
NM_000091.5(COL4A3):c.4057A>G (p.Ile1353Val)
|
rs779233761
|
|
|
NM_000091.5(COL4A3):c.4061T>C (p.Ile1354Thr)
|
|
|
|
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)
|
rs876657397
|
|
|
NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu)
|
|
|
|
NM_000091.5(COL4A3):c.415G>A (p.Gly139Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)
|
rs2106274329
|
|
|
NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg)
|
|
|
|
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)
|
rs2073446714
|
|
|
NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg)
|
rs2469916768
|
|
|
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter)
|
rs2106283830
|
|
|
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del)
|
rs746597831
|
|
|
NM_000091.5(COL4A3):c.4277C>A (p.Pro1426Gln)
|
|
|
|
NM_000091.5(COL4A3):c.4289G>T (p.Gly1430Val)
|
|
|
|
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly)
|
rs2106283943
|
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
|
NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter)
|
rs2469931435
|
|
|
NM_000091.5(COL4A3):c.4413T>G (p.Phe1471Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4425T>G (p.Phe1475Leu)
|
|
|
|
NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp)
|
|
|
|
NM_000091.5(COL4A3):c.4466C>T (p.Thr1489Ile)
|
|
|
|
NM_000091.5(COL4A3):c.448del (p.Ala150fs)
|
rs2469517638
|
|
|
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)
|
rs1553766363
|
|
|
NM_000091.5(COL4A3):c.4502C>T (p.Pro1501Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs)
|
rs2469937169
|
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
|
NM_000091.5(COL4A3):c.4609A>G (p.Thr1537Ala)
|
|
|
|
NM_000091.5(COL4A3):c.4612G>A (p.Gly1538Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4628C>T (p.Pro1543Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4636A>T (p.Ser1546Cys)
|
|
|
|
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter)
|
rs1574842143
|
|
|
NM_000091.5(COL4A3):c.4664C>A (p.Ala1555Glu)
|
|
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
|
NM_000091.5(COL4A3):c.4669G>A (p.Ala1557Thr)
|
|
|
|
NM_000091.5(COL4A3):c.468+1G>T
|
rs1553751122
|
|
|
NM_000091.5(COL4A3):c.468+1del
|
rs1553751120
|
|
|
NM_000091.5(COL4A3):c.4700T>C (p.Ile1567Thr)
|
|
|
|
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser)
|
rs2073644777
|
|
|
NM_000091.5(COL4A3):c.470G>A (p.Gly157Asp)
|
|
|
|
NM_000091.5(COL4A3):c.4795G>T (p.Ala1599Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
|
NM_000091.5(COL4A3):c.4824C>A (p.Phe1608Leu)
|
|
|
|
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs)
|
rs2073715263
|
|
|
NM_000091.5(COL4A3):c.4847G>A (p.Cys1616Tyr)
|
|
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
|
NM_000091.5(COL4A3):c.4887_4888del (p.Tyr1629_Ser1630delinsTer)
|
|
|
|
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys)
|
rs2106295155
|
|
|
NM_000091.5(COL4A3):c.4939C>T (p.Pro1647Ser)
|
|
|
|
NM_000091.5(COL4A3):c.4989G>C (p.Gln1663His)
|
|
|
|
NM_000091.5(COL4A3):c.522dup (p.Leu175fs)
|
rs761358728
|
|
|
NM_000091.5(COL4A3):c.528A>C (p.Pro176=)
|
|
|
|
NM_000091.5(COL4A3):c.529G>A (p.Gly177Arg)
|
|
|
|
NM_000091.5(COL4A3):c.539G>A (p.Gly180Glu)
|
|
|
|
NM_000091.5(COL4A3):c.544C>G (p.Gln182Glu)
|
|
|
|
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs)
|
rs749348004
|
|
|
NM_000091.5(COL4A3):c.580_597dup (p.Pro199_Pro200insValGlyProProGlyPro)
|
|
|
|
NM_000091.5(COL4A3):c.584G>T (p.Gly195Val)
|
|
|
|
NM_000091.5(COL4A3):c.602G>A (p.Gly201Glu)
|
|
|
|
NM_000091.5(COL4A3):c.610-1G>A
|
rs2469545357
|
|
|
NM_000091.5(COL4A3):c.635G>C (p.Arg212Thr)
|
|
|
|
NM_000091.5(COL4A3):c.645+3A>G
|
|
|
|
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)
|
rs1169752185
|
|
|
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
|
rs2069900248
|
|
|
NM_000091.5(COL4A3):c.65C>A (p.Ala22Glu)
|
|
|
|
NM_000091.5(COL4A3):c.686G>A (p.Arg229Gln)
|
rs188942711
|
|
|
NM_000091.5(COL4A3):c.687+13C>T
|
rs1344117870
|
|
|
NM_000091.5(COL4A3):c.687+1G>T
|
rs2069903710
|
|
|
NM_000091.5(COL4A3):c.689dup
|
rs2469563027
|
|
|
NM_000091.5(COL4A3):c.692T>C (p.Val231Ala)
|
rs747868845
|
|
|
NM_000091.5(COL4A3):c.713dup (p.Pro240fs)
|
rs988439345
|
|
|
NM_000091.5(COL4A3):c.716dup (p.Pro240fs)
|
rs2469563364
|
|
|
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)
|
rs1574699806
|
|
|
NM_000091.5(COL4A3):c.761G>A (p.Arg254Lys)
|
|
|
|
NM_000091.5(COL4A3):c.761G>C (p.Arg254Thr)
|
|
|
|
NM_000091.5(COL4A3):c.765+3A>G
|
|
|
|
NM_000091.5(COL4A3):c.765G>T (p.Thr255=)
|
rs869025328
|
|
|
NM_000091.5(COL4A3):c.766-2A>T
|
|
|
|
NM_000091.5(COL4A3):c.778G>A (p.Glu260Lys)
|
|
|
|
NM_000091.5(COL4A3):c.782del (p.Lys261fs)
|
|
|
|
NM_000091.5(COL4A3):c.802G>A (p.Gly268Ser)
|
|
|
|
NM_000091.5(COL4A3):c.821G>A (p.Gly274Glu)
|
|
|
|
NM_000091.5(COL4A3):c.829-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)
|
rs2070035662
|
|
|
NM_000091.5(COL4A3):c.862G>C (p.Gly288Arg)
|
|
|
|
NM_000091.5(COL4A3):c.888G>A (p.Gln296=)
|
|
|
|
NM_000091.5(COL4A3):c.917G>T (p.Gly306Val)
|
|
|
|
NM_000091.5(COL4A3):c.934G>A (p.Gly312Arg)
|
|
|
|
NM_000091.5(COL4A3):c.941A>C (p.Lys314Thr)
|
|
|
|
NM_000091.5(COL4A3):c.943G>A (p.Gly315Ser)
|
|
|
|
NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser)
|
|
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
|
NM_000091.5(COL4A3):c.987+1G>T
|
|
|
|
NM_000091.5(COL4A3):c.988-5_988delinsAT
|
|
|
|
NM_000091.5(COL4A3):c.997G>C (p.Gly333Arg)
|
|
|