NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
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.1992del (p.Gly665fs)
|
rs751677704
|
0.00005
|
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)
|
rs368434069
|
0.00004
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)
|
rs376550779
|
0.00003
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
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.1051C>T (p.Gln351Ter)
|
rs1218470259
|
0.00001
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.1584del (p.Gly529fs)
|
rs1380904813
|
0.00001
|
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)
|
rs779575469
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)
|
rs1414411811
|
0.00001
|
NM_000091.5(COL4A3):c.2800G>A (p.Gly934Arg)
|
rs199956740
|
0.00001
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
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.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)
|
rs375290088
|
0.00001
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
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.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.4982G>A (p.Arg1661His)
|
rs374158562
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NC_000002.12:g.227253562dup
|
|
|
NC_000002.12:g.227256027del
|
rs2125940514
|
|
NC_000002.12:g.227280441del
|
rs2106151385
|
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
NM_000091.5(COL4A3):c.1033G>T (p.Glu345Ter)
|
rs760561462
|
|
NM_000091.5(COL4A3):c.1037_1038del (p.Tyr346fs)
|
|
|
NM_000091.5(COL4A3):c.1054G>T (p.Glu352Ter)
|
rs937387158
|
|
NM_000091.5(COL4A3):c.1077_1081dup (p.Pro361fs)
|
rs2125956496
|
|
NM_000091.5(COL4A3):c.1109del (p.Pro370fs)
|
|
|
NM_000091.5(COL4A3):c.1111C>T (p.Gln371Ter)
|
rs2125956727
|
|
NM_000091.5(COL4A3):c.1113del (p.Gly372fs)
|
rs2070436374
|
|
NM_000091.5(COL4A3):c.1131del (p.Gly378fs)
|
rs2125961866
|
|
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)
|
rs2125961933
|
|
NM_000091.5(COL4A3):c.1150+5G>A
|
|
|
NM_000091.5(COL4A3):c.1156_1171del (p.Ser386fs)
|
rs2125972268
|
|
NM_000091.5(COL4A3):c.1180_1199del (p.Pro394fs)
|
rs2125972390
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
|
NM_000091.5(COL4A3):c.1206_1210del (p.Ser402fs)
|
|
|
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)
|
rs2070736908
|
|
NM_000091.5(COL4A3):c.1213_1214del (p.Glu405fs)
|
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
NM_000091.5(COL4A3):c.1229G>A (p.Gly410Glu)
|
rs1350342816
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)
|
|
|
NM_000091.5(COL4A3):c.1286del (p.Pro429fs)
|
rs2125972883
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
NM_000091.5(COL4A3):c.133A>T (p.Lys45Ter)
|
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1391G>T (p.Gly464Val)
|
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
NM_000091.5(COL4A3):c.1408+1G>A
|
rs1185847791
|
|
NM_000091.5(COL4A3):c.1408+1G>C
|
|
|
NM_000091.5(COL4A3):c.1443T>A (p.Tyr481Ter)
|
rs2070938396
|
|
NM_000091.5(COL4A3):c.1504+1G>A
|
rs1559882199
|
|
NM_000091.5(COL4A3):c.1591C>T (p.Gln531Ter)
|
rs2125991063
|
|
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)
|
rs2071189852
|
|
NM_000091.5(COL4A3):c.1671dup (p.Leu558fs)
|
rs2125991253
|
|
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)
|
rs1553757060
|
|
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys)
|
rs2125991456
|
|
NM_000091.5(COL4A3):c.1778_1793del (p.Gly593fs)
|
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
NM_000091.5(COL4A3):c.1845dup (p.Pro616fs)
|
|
|
NM_000091.5(COL4A3):c.184C>T (p.Gln62Ter)
|
rs2125891603
|
|
NM_000091.5(COL4A3):c.1861dup (p.Gln621fs)
|
rs2125996462
|
|
NM_000091.5(COL4A3):c.1885dup (p.Thr629fs)
|
rs2125996551
|
|
NM_000091.5(COL4A3):c.1886del (p.Thr629fs)
|
|
|
NM_000091.5(COL4A3):c.1891G>A (p.Gly631Arg)
|
rs2125996582
|
|
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val)
|
rs1315862965
|
|
NM_000091.5(COL4A3):c.1900G>T (p.Gly634Ter)
|
rs1060499696
|
|
NM_000091.5(COL4A3):c.1908dup (p.Gly637fs)
|
rs2125996634
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs)
|
rs758444182
|
|
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs)
|
rs2071566709
|
|
NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)
|
|
|
NM_000091.5(COL4A3):c.1991del (p.Pro664fs)
|
|
|
NM_000091.5(COL4A3):c.2003del (p.Gly668fs)
|
rs755235783
|
|
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs)
|
rs1553758893
|
|
NM_000091.5(COL4A3):c.2086del (p.Ile696fs)
|
|
|
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)
|
rs1553759430
|
|
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter)
|
rs1164505506
|
|
NM_000091.5(COL4A3):c.2162del (p.Gly721fs)
|
rs1399954090
|
|
NM_000091.5(COL4A3):c.2176dup (p.Met726fs)
|
rs1559893935
|
|
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu)
|
rs2071838155
|
|
NM_000091.5(COL4A3):c.226_229dup (p.Pro77fs)
|
|
|
NM_000091.5(COL4A3):c.2313_2330del (p.772LPG[1])
|
rs2071889322
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)
|
rs2106151987
|
|
NM_000091.5(COL4A3):c.2336del (p.Pro779fs)
|
rs2106152005
|
|
NM_000091.5(COL4A3):c.2353G>T (p.Glu785Ter)
|
rs755792441
|
|
NM_000091.5(COL4A3):c.2374G>T (p.Gly792Ter)
|
rs2071892705
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)
|
rs2072040353
|
|
NM_000091.5(COL4A3):c.253G>T (p.Gly85Ter)
|
rs2125904394
|
|
NM_000091.5(COL4A3):c.2546C>G (p.Ser849Ter)
|
rs2072043249
|
|
NM_000091.5(COL4A3):c.257del (p.Leu86fs)
|
|
|
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)
|
rs1553760257
|
|
NM_000091.5(COL4A3):c.2628del (p.Gly877fs)
|
|
|
NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter)
|
rs2106164697
|
|
NM_000091.5(COL4A3):c.2717dup (p.Gly907fs)
|
rs2106171752
|
|
NM_000091.5(COL4A3):c.2745_2746+7del
|
|
|
NM_000091.5(COL4A3):c.2746+1del
|
rs2106172051
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
NM_000091.5(COL4A3):c.2782_2797del (p.Gly928fs)
|
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
NM_000091.5(COL4A3):c.2881+1G>A
|
rs1559899827
|
|
NM_000091.5(COL4A3):c.2881+1G>T
|
rs1559899827
|
|
NM_000091.5(COL4A3):c.2908G>T (p.Gly970Ter)
|
|
|
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)
|
rs1559904445
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs)
|
rs755109848
|
|
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
|
rs2069242131
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
NM_000091.5(COL4A3):c.3088G>T (p.Gly1030Ter)
|
|
|
NM_000091.5(COL4A3):c.3119_3120del (p.Arg1040fs)
|
rs1161799599
|
|
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)
|
rs2072649241
|
|
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)
|
rs1553762279
|
|
NM_000091.5(COL4A3):c.3152del (p.Gly1051fs)
|
|
|
NM_000091.5(COL4A3):c.3176C>G (p.Ser1059Ter)
|
rs2072651666
|
|
NM_000091.5(COL4A3):c.3180del (p.Gly1061fs)
|
|
|
NM_000091.5(COL4A3):c.3210+2T>C
|
rs2106211133
|
|
NM_000091.5(COL4A3):c.3211-1G>C
|
rs1553762936
|
|
NM_000091.5(COL4A3):c.3211-2A>C
|
rs2106226183
|
|
NM_000091.5(COL4A3):c.3238G>A (p.Gly1080Arg)
|
rs1267839034
|
|
NM_000091.5(COL4A3):c.3244_3247del (p.Lys1082fs)
|
rs1057516204
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
|
|
|
NM_000091.5(COL4A3):c.3357_3364dup (p.Gly1122fs)
|
rs2072936004
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)
|
rs2106235905
|
|
NM_000091.5(COL4A3):c.3514del (p.Thr1172fs)
|
rs2106236126
|
|
NM_000091.5(COL4A3):c.3517+1del
|
rs2106236191
|
|
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)
|
rs750308686
|
|
NM_000091.5(COL4A3):c.3542del (p.Pro1181fs)
|
rs1453992981
|
|
NM_000091.5(COL4A3):c.3566-2A>G
|
rs1055753755
|
|
NM_000091.5(COL4A3):c.3566G>A (p.Gly1189Glu)
|
rs2106246658
|
|
NM_000091.5(COL4A3):c.3579_3585del (p.Asp1193fs)
|
rs2106246712
|
|
NM_000091.5(COL4A3):c.3608del (p.Pro1203fs)
|
|
|
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)
|
rs1167411352
|
|
NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg)
|
rs1167411352
|
|
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)
|
rs1553764136
|
|
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs)
|
rs764376138
|
|
NM_000091.5(COL4A3):c.369del (p.Gly124fs)
|
|
|
NM_000091.5(COL4A3):c.370G>T (p.Gly124Ter)
|
|
|
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)
|
|
|
NM_000091.5(COL4A3):c.3751G>A (p.Gly1251Ser)
|
rs2106247623
|
|
NM_000091.5(COL4A3):c.3752-2A>C
|
|
|
NM_000091.5(COL4A3):c.3767del (p.Pro1256fs)
|
rs2106250767
|
|
NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)
|
|
|
NM_000091.5(COL4A3):c.376del (p.Ser126fs)
|
rs2125910105
|
|
NM_000091.5(COL4A3):c.3797_3798insGT (p.Ile1266fs)
|
|
|
NM_000091.5(COL4A3):c.3801_3802del (p.Gly1268fs)
|
|
|
NM_000091.5(COL4A3):c.3813del (p.Ser1272fs)
|
rs1559914770
|
|
NM_000091.5(COL4A3):c.3866del (p.Gly1289fs)
|
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
NM_000091.5(COL4A3):c.3955+1G>C
|
rs2106267620
|
|
NM_000091.5(COL4A3):c.3955+2T>G
|
|
|
NM_000091.5(COL4A3):c.3991G>T (p.Gly1331Ter)
|
rs2073395126
|
|
NM_000091.5(COL4A3):c.4130dup (p.Pro1378fs)
|
rs2106271092
|
|
NM_000091.5(COL4A3):c.4144_4151del (p.Gly1382fs)
|
|
|
NM_000091.5(COL4A3):c.4217del (p.Gly1406fs)
|
rs2106274574
|
|
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter)
|
rs2106283830
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)
|
rs748026887
|
|
NM_000091.5(COL4A3):c.4410del (p.Ser1472fs)
|
rs1559922416
|
|
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs)
|
rs1445615417
|
|
NM_000091.5(COL4A3):c.4425dup (p.Val1476fs)
|
rs2106284607
|
|
NM_000091.5(COL4A3):c.4450G>T (p.Gly1484Ter)
|
|
|
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys)
|
rs1057519377
|
|
NM_000091.5(COL4A3):c.4477dup (p.Cys1493fs)
|
|
|
NM_000091.5(COL4A3):c.4483C>T (p.Gln1495Ter)
|
|
|
NM_000091.5(COL4A3):c.448del (p.Ala150fs)
|
|
|
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs)
|
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)
|
rs121912825
|
|
NM_000091.5(COL4A3):c.4589del (p.Pro1530fs)
|
|
|
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter)
|
rs1574842143
|
|
NM_000091.5(COL4A3):c.4650_4653del (p.Cys1551fs)
|
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
NM_000091.5(COL4A3):c.466A>T (p.Lys156Ter)
|
|
|
NM_000091.5(COL4A3):c.467del (p.Lys156fs)
|
rs2125914087
|
|
NM_000091.5(COL4A3):c.4701del (p.Pro1568fs)
|
rs2106289464
|
|
NM_000091.5(COL4A3):c.4722G>A (p.Trp1574Ter)
|
|
|
NM_000091.5(COL4A3):c.4738G>T (p.Gly1580Ter)
|
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs)
|
rs2073715263
|
|
NM_000091.5(COL4A3):c.4887del (p.Ser1628_Tyr1629insTer)
|
|
|
NM_000091.5(COL4A3):c.4918A>T (p.Arg1640Ter)
|
|
|
NM_000091.5(COL4A3):c.4928+1G>T
|
|
|
NM_000091.5(COL4A3):c.4938del (p.Pro1647fs)
|
|
|
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp)
|
rs1014839148
|
|
NM_000091.5(COL4A3):c.522dup (p.Leu175fs)
|
rs761358728
|
|
NM_000091.5(COL4A3):c.524T>A (p.Leu175Ter)
|
|
|
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs)
|
rs749348004
|
|
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg)
|
rs1553752192
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
NM_000091.5(COL4A3):c.713del (p.Pro238fs)
|
rs988439345
|
|
NM_000091.5(COL4A3):c.778dup (p.Glu260fs)
|
rs2125934511
|
|
NM_000091.5(COL4A3):c.825dup (p.Ser276fs)
|
|
|
NM_000091.5(COL4A3):c.833dup (p.Pro279fs)
|
rs1363680371
|
|
NM_000091.5(COL4A3):c.864del (p.Ala289fs)
|
rs2125936439
|
|
NM_000091.5(COL4A3):c.888+1G>A
|
rs2125936534
|
|
NM_000091.5(COL4A3):c.894del (p.Lys298fs)
|
rs2070145822
|
|
NM_000091.5(COL4A3):c.894dup (p.Pro299fs)
|
rs2070145822
|
|
NM_000091.5(COL4A3):c.898G>T (p.Gly300Ter)
|
rs772708743
|
|
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)
|
rs1385106410
|
|
NM_000091.5(COL4A3):c.933+1G>A
|
|
|
NM_000091.5(COL4A3):c.967_968dup (p.Met323fs)
|
rs2125941952
|
|
NM_000091.5(COL4A3):c.998G>A (p.Gly333Glu)
|
|
|