NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)
|
rs937550597
|
0.00002
|
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
|
rs372606845
|
0.00002
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
NM_000092.5(COL4A4):c.105T>G (p.Tyr35Ter)
|
rs756672670
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala)
|
rs751952236
|
0.00001
|
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)
|
rs778832152
|
0.00001
|
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)
|
rs926605269
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp)
|
rs374340855
|
0.00001
|
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter)
|
rs778345125
|
0.00001
|
NM_000092.5(COL4A4):c.192G>A (p.Arg64=)
|
rs748152418
|
0.00001
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala)
|
rs201648982
|
0.00001
|
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)
|
rs929684384
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
0.00001
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs)
|
rs761200469
|
0.00001
|
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
NM_000092.5(COL4A4):c.4787G>A (p.Trp1596Ter)
|
rs1222429942
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.675dup (p.Gly226fs)
|
rs1553688335
|
0.00001
|
NM_000092.5(COL4A4):c.735G>A (p.Pro245=)
|
rs923865420
|
0.00001
|
NC_000002.11:g.(?_227872031)_(227873030_?)del
|
|
|
NC_000002.11:g.(?_227872031)_(227985874_?)del
|
|
|
NC_000002.11:g.(?_227872041)_(227872324_?)del
|
|
|
NC_000002.11:g.(?_227892598)_(227974022_?)del
|
|
|
NC_000002.11:g.(?_227914764)_(227917148_?)del
|
|
|
NC_000002.11:g.(?_227946821)_(227946913_?)del
|
|
|
NC_000002.11:g.(?_227963400)_(227966635_?)del
|
|
|
NC_000002.12:g.(?_227147403)_(227147493_?)del
|
|
|
NC_000002.12:g.227094281_227094290del
|
rs2150688207
|
|
NM_000092.4(COL4A4):c.1321_1369+3del
|
rs1553676221
|
|
NM_000092.4(COL4A4):c.2385del
|
rs1975778377
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1099+1G>A
|
|
|
NM_000092.5(COL4A4):c.1099+1G>T
|
rs1372782305
|
|
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser)
|
rs764981982
|
|
NM_000092.5(COL4A4):c.1143_1144del (p.Asp383fs)
|
rs2150739953
|
|
NM_000092.5(COL4A4):c.1161dup (p.Gly388fs)
|
rs1576486164
|
|
NM_000092.5(COL4A4):c.1169del (p.Pro390fs)
|
|
|
NM_000092.5(COL4A4):c.1172del (p.Gly391fs)
|
|
|
NM_000092.5(COL4A4):c.118G>T (p.Gly40Ter)
|
rs2125292585
|
|
NM_000092.5(COL4A4):c.1200dup (p.Ala401fs)
|
rs2150739132
|
|
NM_000092.5(COL4A4):c.1220del (p.Pro407fs)
|
rs1396423880
|
|
NM_000092.5(COL4A4):c.1221_1237del (p.Gly408fs)
|
rs1559606445
|
|
NM_000092.5(COL4A4):c.1221del (p.Pro409fs)
|
rs1576457876
|
|
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs)
|
rs2150687684
|
|
NM_000092.5(COL4A4):c.1247del (p.Pro416fs)
|
rs2150687380
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
NM_000092.5(COL4A4):c.1366del (p.Ser456fs)
|
|
|
NM_000092.5(COL4A4):c.1389del (p.Asn464fs)
|
rs1576428862
|
|
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)
|
rs2059821994
|
|
NM_000092.5(COL4A4):c.1430del (p.Pro477fs)
|
|
|
NM_000092.5(COL4A4):c.1440del (p.Gly481fs)
|
rs2150616126
|
|
NM_000092.5(COL4A4):c.1449dup (p.Gly484fs)
|
rs2150615820
|
|
NM_000092.5(COL4A4):c.1459+1G>A
|
|
|
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs)
|
rs2150596830
|
|
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)
|
rs2150595867
|
|
NM_000092.5(COL4A4):c.156C>A (p.Cys52Ter)
|
rs2125291854
|
|
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
|
rs2059732983
|
|
NM_000092.5(COL4A4):c.1603G>T (p.Glu535Ter)
|
rs1553669674
|
|
NM_000092.5(COL4A4):c.1623+1G>A
|
rs1559590037
|
|
NM_000092.5(COL4A4):c.1649_1656del (p.Pro550fs)
|
|
|
NM_000092.5(COL4A4):c.1696+1del
|
rs2150523233
|
|
NM_000092.5(COL4A4):c.1706del (p.Gly569fs)
|
|
|
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)
|
rs1446915781
|
|
NM_000092.5(COL4A4):c.1716del (p.Pro573fs)
|
|
|
NM_000092.5(COL4A4):c.1730dup (p.Gly578fs)
|
|
|
NM_000092.5(COL4A4):c.1733G>T (p.Gly578Val)
|
|
|
NM_000092.5(COL4A4):c.1768G>T (p.Gly590Ter)
|
rs2150505661
|
|
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)
|
rs2150505385
|
|
NM_000092.5(COL4A4):c.182dup (p.Ser63fs)
|
|
|
NM_000092.5(COL4A4):c.1848del (p.Pro617fs)
|
rs2150476941
|
|
NM_000092.5(COL4A4):c.1856_1857insT (p.Gly622fs)
|
|
|
NM_000092.5(COL4A4):c.185_186dup (p.Ser63fs)
|
rs2125291573
|
|
NM_000092.5(COL4A4):c.1862del (p.Pro621fs)
|
rs2150476732
|
|
NM_000092.5(COL4A4):c.1889del (p.Pro630fs)
|
rs757688183
|
|
NM_000092.5(COL4A4):c.1891G>T (p.Gly631Ter)
|
|
|
NM_000092.5(COL4A4):c.193-2A>C
|
rs2125038490
|
|
NM_000092.5(COL4A4):c.1966del (p.Asp656fs)
|
rs2150475193
|
|
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser)
|
rs1977400475
|
|
NM_000092.5(COL4A4):c.2110G>A (p.Gly704Arg)
|
rs1379525680
|
|
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
|
rs1976595425
|
|
NM_000092.5(COL4A4):c.2168_2169dup (p.Arg724fs)
|
rs2150277252
|
|
NM_000092.5(COL4A4):c.2171del (p.Arg724fs)
|
rs1576207007
|
|
NM_000092.5(COL4A4):c.2196del (p.Phe732fs)
|
rs2150276476
|
|
NM_000092.5(COL4A4):c.2215_2236del (p.Ser739fs)
|
rs2150275655
|
|
NM_000092.5(COL4A4):c.2219_2220del (p.Pro740fs)
|
rs2150276003
|
|
NM_000092.5(COL4A4):c.2219dup (p.Val741fs)
|
rs141127013
|
|
NM_000092.5(COL4A4):c.2232dup (p.Gly745fs)
|
rs1976356392
|
|
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter)
|
rs2150275391
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.227_231del (p.Ile76fs)
|
rs2061758031
|
|
NM_000092.5(COL4A4):c.2312del (p.Gly771fs)
|
|
|
NM_000092.5(COL4A4):c.236_252del (p.Leu79fs)
|
|
|
NM_000092.5(COL4A4):c.2377del (p.Ala793fs)
|
rs1976320157
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)
|
rs786205640
|
|
NM_000092.5(COL4A4):c.2435_2436del (p.Glu812fs)
|
rs1448532668
|
|
NM_000092.5(COL4A4):c.2488del (p.Arg830fs)
|
|
|
NM_000092.5(COL4A4):c.2531_2537del (p.Tyr844fs)
|
rs2150249648
|
|
NM_000092.5(COL4A4):c.2616del (p.Gly873fs)
|
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
NM_000092.5(COL4A4):c.2656dup (p.Leu886fs)
|
|
|
NM_000092.5(COL4A4):c.2734G>A (p.Gly912Ser)
|
rs1553640846
|
|
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg)
|
rs1553640846
|
|
NM_000092.5(COL4A4):c.2753del (p.Gly918fs)
|
rs2150220718
|
|
NM_000092.5(COL4A4):c.2762del (p.Gly921fs)
|
rs1974906528
|
|
NM_000092.5(COL4A4):c.2794A>T (p.Lys932Ter)
|
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs)
|
rs1559677146
|
|
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter)
|
rs1303057809
|
|
NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter)
|
rs2150219679
|
|
NM_000092.5(COL4A4):c.2870G>A (p.Gly957Glu)
|
|
|
NM_000092.5(COL4A4):c.2871dup (p.Pro958fs)
|
|
|
NM_000092.5(COL4A4):c.2906C>A (p.Ser969Ter)
|
rs35138315
|
|
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs)
|
|
|
NM_000092.5(COL4A4):c.2980dup (p.Thr994fs)
|
|
|
NM_000092.5(COL4A4):c.301G>T (p.Gly101Ter)
|
|
|
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs)
|
rs1559500363
|
|
NM_000092.5(COL4A4):c.3170G>T (p.Gly1057Val)
|
rs2150172729
|
|
NM_000092.5(COL4A4):c.3271G>C (p.Gly1091Arg)
|
rs1973129665
|
|
NM_000092.5(COL4A4):c.3289+1G>A
|
|
|
NM_000092.5(COL4A4):c.3289+1G>T
|
rs1973128133
|
|
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs)
|
rs1971796422
|
|
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs)
|
|
|
NM_000092.5(COL4A4):c.3313C>T (p.Gln1105Ter)
|
|
|
NM_000092.5(COL4A4):c.3319_3358del (p.Leu1107fs)
|
rs2150103127
|
|
NM_000092.5(COL4A4):c.3321_3339dup (p.Arg1114fs)
|
|
|
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter)
|
|
|
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)
|
rs1971792460
|
|
NM_000092.5(COL4A4):c.3439del (p.Met1147fs)
|
rs1559480432
|
|
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter)
|
rs1364773011
|
|
NM_000092.5(COL4A4):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_000092.5(COL4A4):c.3648del (p.Ser1217fs)
|
|
|
NM_000092.5(COL4A4):c.3680dup (p.Lys1229fs)
|
rs2149980503
|
|
NM_000092.5(COL4A4):c.3687del (p.Gly1230fs)
|
|
|
NM_000092.5(COL4A4):c.3687dup (p.Gly1230fs)
|
|
|
NM_000092.5(COL4A4):c.3695del (p.Pro1232fs)
|
|
|
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)
|
rs754706338
|
|
NM_000092.5(COL4A4):c.3704dup (p.Gly1236fs)
|
|
|
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)
|
rs121912859
|
|
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs)
|
rs1559450594
|
|
NM_000092.5(COL4A4):c.3878_3881dup (p.Cys1294Ter)
|
rs2149956892
|
|
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs)
|
rs2149956832
|
|
NM_000092.5(COL4A4):c.3923del (p.Pro1308fs)
|
rs762504207
|
|
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.3955G>T (p.Gly1319Ter)
|
|
|
NM_000092.5(COL4A4):c.3961del (p.Asp1321fs)
|
|
|
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)
|
rs1489351299
|
|
NM_000092.5(COL4A4):c.3997C>T (p.Gln1333Ter)
|
rs2149925286
|
|
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs)
|
|
|
NM_000092.5(COL4A4):c.4082-1G>T
|
rs1559438651
|
|
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter)
|
rs2149854376
|
|
NM_000092.5(COL4A4):c.4097dup (p.Pro1368fs)
|
rs2149854259
|
|
NM_000092.5(COL4A4):c.4150del (p.Ala1384fs)
|
|
|
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs)
|
|
|
NM_000092.5(COL4A4):c.4174G>T (p.Gly1392Ter)
|
|
|
NM_000092.5(COL4A4):c.4175del (p.Gly1392fs)
|
|
|
NM_000092.5(COL4A4):c.4187del (p.Leu1396fs)
|
rs2149852923
|
|
NM_000092.5(COL4A4):c.4200dup (p.Gly1401fs)
|
rs2149852637
|
|
NM_000092.5(COL4A4):c.4226del (p.Gly1409fs)
|
rs1963907888
|
|
NM_000092.5(COL4A4):c.4304_4305del (p.Thr1435fs)
|
rs2149763989
|
|
NM_000092.5(COL4A4):c.4334G>A (p.Gly1445Glu)
|
rs1559402680
|
|
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter)
|
|
|
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs)
|
|
|
NM_000092.5(COL4A4):c.4444del (p.Leu1482fs)
|
rs764752384
|
|
NM_000092.5(COL4A4):c.4456del (p.Arg1486fs)
|
rs2149744042
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)
|
rs1963392922
|
|
NM_000092.5(COL4A4):c.4473_4474dup (p.Ser1492fs)
|
rs2149743813
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs)
|
rs2149722718
|
|
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)
|
rs369922627
|
|
NM_000092.5(COL4A4):c.4603C>T (p.Gln1535Ter)
|
|
|
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
|
rs1962628992
|
|
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs)
|
rs1559396675
|
|
NM_000092.5(COL4A4):c.4645del (p.Leu1549fs)
|
|
|
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)
|
rs2149721718
|
|
NM_000092.5(COL4A4):c.4683_4684del (p.Tyr1562fs)
|
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4685_4686del (p.Tyr1562fs)
|
rs1481294022
|
|
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)
|
rs2149720724
|
|
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)
|
rs2149720690
|
|
NM_000092.5(COL4A4):c.4747C>T (p.Gln1583Ter)
|
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs)
|
rs1206142672
|
|
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter)
|
rs1559395617
|
|
NM_000092.5(COL4A4):c.4776G>A (p.Trp1592Ter)
|
|
|
NM_000092.5(COL4A4):c.4849_4850del (p.Met1617fs)
|
rs2149715284
|
|
NM_000092.5(COL4A4):c.4851_4854dup (p.Pro1619fs)
|
|
|
NM_000092.5(COL4A4):c.4900T>A (p.Cys1634Ser)
|
|
|
NM_000092.5(COL4A4):c.4901G>C (p.Cys1634Ser)
|
|
|
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter)
|
rs121912862
|
|
NM_000092.5(COL4A4):c.4932_4933insT (p.Ala1645fs)
|
|
|
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)
|
rs1408907127
|
|
NM_000092.5(COL4A4):c.4962_4969dup (p.Ala1657delinsGlyTer)
|
rs2149713829
|
|
NM_000092.5(COL4A4):c.4975_4976del (p.Leu1659fs)
|
|
|
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer)
|
rs1308677161
|
|
NM_000092.5(COL4A4):c.5018del (p.Ser1673fs)
|
|
|
NM_000092.5(COL4A4):c.5024_5046del (p.Ala1675fs)
|
rs2149713021
|
|
NM_000092.5(COL4A4):c.5031_5032dup (p.Gln1678fs)
|
rs2149713200
|
|
NM_000092.5(COL4A4):c.511G>T (p.Glu171Ter)
|
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter)
|
rs750345987
|
|
NM_000092.5(COL4A4):c.603G>A (p.Trp201Ter)
|
rs2061041235
|
|
NM_000092.5(COL4A4):c.663del (p.Pro222fs)
|
|
|
NM_000092.5(COL4A4):c.666_667insA (p.Gly223fs)
|
|
|
NM_000092.5(COL4A4):c.694-2A>T
|
|
|
NM_000092.5(COL4A4):c.6G>A (p.Trp2Ter)
|
rs1382380215
|
|
NM_000092.5(COL4A4):c.71+1G>A
|
rs1559742015
|
|
NM_000092.5(COL4A4):c.71+1del
|
rs2125387640
|
|
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter)
|
rs1201925443
|
|
NM_000092.5(COL4A4):c.72G>A (p.Trp24Ter)
|
rs2125348371
|
|
NM_000092.5(COL4A4):c.748C>T (p.Gln250Ter)
|
rs2060674137
|
|
NM_000092.5(COL4A4):c.77_78del (p.Leu26fs)
|
|
|
NM_000092.5(COL4A4):c.794_804del (p.Asp264_Phe265insTer)
|
rs2150805456
|
|
NM_000092.5(COL4A4):c.801_802del (p.Leu267_Tyr268insTer)
|
rs2060671183
|
|
NM_000092.5(COL4A4):c.827G>C (p.Gly276Ala)
|
|
|
NM_000092.5(COL4A4):c.885del (p.Ile295fs)
|
rs2150788209
|
|
NM_000092.5(COL4A4):c.914_930+29del
|
rs1553683757
|
|
NM_000092.5(COL4A4):c.924del (p.Pro309fs)
|
|
|
NM_000092.5(COL4A4):c.93_94del (p.Ser32fs)
|
|
|
NM_000092.5(COL4A4):c.945dup (p.Tyr316fs)
|
|
|
NM_000092.5(COL4A4):c.999dup (p.Pro334fs)
|
rs760803010
|
|