NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
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.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
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.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
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_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)
|
rs772699709
|
0.00003
|
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg)
|
rs899227425
|
0.00003
|
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)
|
rs757328549
|
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.2954G>T (p.Gly985Val)
|
rs121912827
|
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_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
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.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.145-2_145-1del
|
rs1491486533
|
0.00001
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)
|
rs779575469
|
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.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.1A>C (p.Met1Leu)
|
rs1396602090
|
0.00001
|
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter)
|
rs2071839316
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.2488_2488+2del
|
rs1363058249
|
0.00001
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
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.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
NM_000091.5(COL4A3):c.3751+1G>A
|
rs781566652
|
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.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.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)
|
rs926605269
|
0.00001
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
0.00001
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
|
rs776036994
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala)
|
rs201648982
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
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.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)
|
rs377058706
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>T
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val)
|
rs2061040474
|
0.00001
|
NM_000092.5(COL4A4):c.735+2T>C
|
rs2060993180
|
0.00001
|
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser)
|
rs2060673883
|
0.00001
|
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)
|
rs760795817
|
0.00001
|
NM_000092.5(COL4A4):c.975+1G>A
|
rs1553683192
|
0.00001
|
NM_000091.4:c.1900G>A;c.1927G>A
|
|
|
NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs)
|
|
|
NM_000091.5(COL4A3):c.1042_1043delinsT (p.Asp348fs)
|
|
|
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)
|
|
|
NM_000091.5(COL4A3):c.1114+1G>A
|
rs1286895614
|
|
NM_000091.5(COL4A3):c.1143_1150+1del
|
rs1274459294
|
|
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
|
|
|
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)
|
rs1114167371
|
|
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)
|
rs1574727988
|
|
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter)
|
rs1348174898
|
|
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)
|
rs2070736908
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg)
|
rs1574728278
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1361del (p.Pro454fs)
|
|
|
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del)
|
rs1553755767
|
|
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)
|
rs2125981235
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter)
|
rs2070901479
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)
|
|
|
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter)
|
rs2068937789
|
|
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter)
|
rs921768118
|
|
NM_000091.5(COL4A3):c.1572dup (p.Pro525fs)
|
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)
|
rs2071189852
|
|
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)
|
|
|
NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs)
|
|
|
NM_000091.5(COL4A3):c.1682_1685del (p.Gln561fs)
|
|
|
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)
|
|
|
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter)
|
rs920504687
|
|
NM_000091.5(COL4A3):c.1758+1G>A
|
rs1553757096
|
|
NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs)
|
|
|
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1])
|
rs1444785718
|
|
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter)
|
rs773515249
|
|
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
|
rs2125996486
|
|
NM_000091.5(COL4A3):c.1879del (p.Gln627fs)
|
|
|
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp)
|
rs1574767962
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg)
|
rs1553758919
|
|
NM_000091.5(COL4A3):c.2076_2077del (p.Glu693fs)
|
|
|
NM_000091.5(COL4A3):c.2126-1G>C
|
rs2071831565
|
|
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)
|
rs267599232
|
|
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)
|
|
|
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)
|
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
NM_000091.5(COL4A3):c.2223+1G>A
|
rs1553759476
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2])
|
rs1553759665
|
|
NM_000091.5(COL4A3):c.234+1G>A
|
rs1240838887
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2444dup (p.Ala816fs)
|
|
|
NM_000091.5(COL4A3):c.2456_2457insACTGTCTCTTA (p.Pro820fs)
|
|
|
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)
|
|
|
NM_000091.5(COL4A3):c.2489-1G>A
|
rs1574782406
|
|
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
|
|
|
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter)
|
rs2072046147
|
|
NM_000091.5(COL4A3):c.2591_2592insT (p.Gln864fs)
|
|
|
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)
|
|
|
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter)
|
rs2072047738
|
|
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
|
rs759043857
|
|
NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs)
|
|
|
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
|
|
|
NM_000091.5(COL4A3):c.279+1G>A
|
rs202001097
|
|
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter)
|
rs2069240492
|
|
NM_000091.5(COL4A3):c.2830_2831delinsG (p.Pro944fs)
|
|
|
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)
|
rs2072184526
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
|
|
|
NM_000091.5(COL4A3):c.2870del (p.Pro957fs)
|
|
|
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)
|
|
|
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter)
|
rs2072530756
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr)
|
rs1553725815
|
|
NM_000091.5(COL4A3):c.304dup (p.Ser102fs)
|
|
|
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
|
rs2069242131
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
NM_000091.5(COL4A3):c.3070+1G>A
|
rs2106206598
|
|
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del)
|
rs1553750572
|
|
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.3176C>A (p.Ser1059Ter)
|
rs2072651666
|
|
NM_000091.5(COL4A3):c.3206del (p.Pro1069fs)
|
|
|
NM_000091.5(COL4A3):c.3211-1G>C
|
rs1553762936
|
|
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
|
|
|
NM_000091.5(COL4A3):c.325-1G>A
|
rs762518741
|
|
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)
|
rs1574813350
|
|
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)
|
|
|
NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs)
|
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter)
|
rs2072936269
|
|
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter)
|
rs2072936529
|
|
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter)
|
rs2072936636
|
|
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
|
|
|
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)
|
rs749383170
|
|
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)
|
rs774583962
|
|
NM_000091.5(COL4A3):c.3561_3562del (p.Gln1188fs)
|
|
|
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter)
|
rs2072983130
|
|
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)
|
rs1574823172
|
|
NM_000091.5(COL4A3):c.3647del (p.Gly1216fs)
|
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs)
|
|
|
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)
|
rs2106250807
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
NM_000091.5(COL4A3):c.3883-2A>G
|
rs1553765265
|
|
NM_000091.5(COL4A3):c.3915del (p.Arg1306fs)
|
|
|
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter)
|
rs2073363435
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs)
|
|
|
NM_000091.5(COL4A3):c.4004del (p.Pro1335fs)
|
|
|
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter)
|
rs2073400756
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter)
|
rs2073401408
|
|
NM_000091.5(COL4A3):c.4100del (p.Gly1367fs)
|
|
|
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)
|
|
|
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)
|
rs2073446479
|
|
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)
|
|
|
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter)
|
rs2073567181
|
|
NM_000091.5(COL4A3):c.4298del (p.Gly1433fs)
|
|
|
NM_000091.5(COL4A3):c.4307del (p.Gly1436fs)
|
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)
|
|
|
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter)
|
rs2073628823
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)
|
|
|
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter)
|
rs2073630720
|
|
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)
|
rs121912825
|
|
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)
|
|
|
NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs)
|
|
|
NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs)
|
|
|
NM_000091.5(COL4A3):c.4640+1G>A
|
rs1553766404
|
|
NM_000091.5(COL4A3):c.468+1G>A
|
rs1553751122
|
|
NM_000091.5(COL4A3):c.468+1G>T
|
rs1553751122
|
|
NM_000091.5(COL4A3):c.468+1del
|
rs1553751120
|
|
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)
|
|
|
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
|
rs2073646176
|
|
NM_000091.5(COL4A3):c.4756-1G>A
|
rs1553766735
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter)
|
rs1351781261
|
|
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)
|
rs2069716520
|
|
NM_000091.5(COL4A3):c.570del (p.Pro191fs)
|
|
|
NM_000091.5(COL4A3):c.610-1G>A
|
|
|
NM_000091.5(COL4A3):c.615del (p.Pro206fs)
|
|
|
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)
|
|
|
NM_000091.5(COL4A3):c.645+2T>C
|
rs1553752199
|
|
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
|
|
|
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)
|
rs2069900248
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu)
|
rs1574698507
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
NM_000091.5(COL4A3):c.700_701del (p.Leu234fs)
|
|
|
NM_000091.5(COL4A3):c.713dup (p.Pro240fs)
|
rs988439345
|
|
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)
|
rs1574699806
|
|
NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer)
|
|
|
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter)
|
rs2125934541
|
|
NM_000091.5(COL4A3):c.803dup (p.Glu269fs)
|
|
|
NM_000091.5(COL4A3):c.829-2A>C
|
rs1553753119
|
|
NM_000091.5(COL4A3):c.833dup (p.Pro279fs)
|
rs1363680371
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu)
|
rs1422638161
|
|
NM_000091.5(COL4A3):c.894del (p.Lys298fs)
|
rs2070145822
|
|
NM_000091.5(COL4A3):c.94_95del (p.Val32fs)
|
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter)
|
rs768527987
|
|
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs)
|
rs1575895541
|
|
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs)
|
rs1553690604
|
|
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter)
|
rs2060519888
|
|
NM_000092.5(COL4A4):c.1029+2T>C
|
rs1553682895
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
NM_000092.5(COL4A4):c.1030-2del
|
rs2150750057
|
|
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)
|
rs990679247
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter)
|
|
|
NM_000092.5(COL4A4):c.1099+1G>T
|
rs1372782305
|
|
NM_000092.5(COL4A4):c.114+1G>C
|
rs1553712110
|
|
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)
|
|
|
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs)
|
rs2150687684
|
|
NM_000092.5(COL4A4):c.1268del (p.Gly423fs)
|
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)
|
rs1203564054
|
|
NM_000092.5(COL4A4):c.1369+1G>A
|
rs1553676230
|
|
NM_000092.5(COL4A4):c.1400del (p.Pro467fs)
|
|
|
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)
|
rs2059821994
|
|
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs)
|
|
|
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.1543G>T (p.Gly515Ter)
|
|
|
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val)
|
rs2150595484
|
|
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
|
|
|
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp)
|
rs2059360185
|
|
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter)
|
rs2059358378
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1697-1G>A
|
rs1559569975
|
|
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)
|
rs1446915781
|
|
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)
|
|
|
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
|
|
|
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)
|
rs2150505385
|
|
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)
|
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)
|
|
|
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs)
|
|
|
NM_000092.5(COL4A4):c.186dup (p.Ser63fs)
|
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
|
rs2059121113
|
|
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter)
|
rs2059119564
|
|
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)
|
rs1553644402
|
|
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter)
|
rs1976602205
|
|
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
|
|
|
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)
|
|
|
NM_000092.5(COL4A4):c.2207del (p.Lys736fs)
|
|
|
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)
|
|
|
NM_000092.5(COL4A4):c.2241del (p.Gly748fs)
|
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)
|
|
|
NM_000092.5(COL4A4):c.2346del (p.Gly783fs)
|
|
|
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg)
|
rs768003309
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter)
|
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.2546-1G>C
|
rs1553641728
|
|
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter)
|
rs768902127
|
|
NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del)
|
rs2150234491
|
|
NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)
|
|
|
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg)
|
rs1363277825
|
|
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
|
|
|
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
|
|
|
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)
|
rs2150221180
|
|
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter)
|
rs2061755379
|
|
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
|
|
|
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)
|
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
|
|
|
NM_000092.5(COL4A4):c.2880dup (p.Asp961fs)
|
|
|
NM_000092.5(COL4A4):c.2894dup (p.Met965fs)
|
|
|
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
|
rs1974295317
|
|
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)
|
rs748473278
|
|
NM_000092.5(COL4A4):c.2968+1G>T
|
|
|
NM_000092.5(COL4A4):c.2969-1G>C
|
rs1553639043
|
|
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter)
|
rs1974009894
|
|
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
|
|
|
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)
|
|
|
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter)
|
rs746105339
|
|
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter)
|
|
|
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)
|
|
|
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter)
|
|
|
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter)
|
rs1973992894
|
|
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)
|
|
|
NM_000092.5(COL4A4):c.3151-2A>G
|
rs1369097739
|
|
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
|
|
|
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter)
|
|
|
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)
|
|
|
NM_000092.5(COL4A4):c.3214+1G>A
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)
|
rs1973140216
|
|
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)
|
|
|
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter)
|
rs1973132502
|
|
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
|
|
|
NM_000092.5(COL4A4):c.328-1G>A
|
rs754669149
|
|
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)
|
|
|
NM_000092.5(COL4A4):c.3289+1G>C
|
rs1973128133
|
|
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)
|
|
|
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)
|
rs1971792460
|
|
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)
|
|
|
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter)
|
rs1971610561
|
|
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)
|
|
|
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg)
|
rs1968850188
|
|
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter)
|
rs1968848668
|
|
NM_000092.5(COL4A4):c.3574_3577+8del
|
rs1553627655
|
|
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)
|
|
|
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
|
rs1968585119
|
|
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)
|
|
|
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
|
rs781360383
|
|
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)
|
|
|
NM_000092.5(COL4A4):c.372+2T>G
|
rs1553696207
|
|
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs)
|
|
|
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)
|
rs1489351299
|
|
NM_000092.5(COL4A4):c.3973+1G>T
|
rs755478262
|
|
NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs)
|
rs1553624127
|
|
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter)
|
rs2149854376
|
|
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter)
|
|
|
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
|
|
|
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
|
|
|
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter)
|
rs1963884904
|
|
NM_000092.5(COL4A4):c.4333+2T>C
|
rs755927061
|
|
NM_000092.5(COL4A4):c.4334-23A>G
|
rs766501515
|
|
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)
|
rs2149745228
|
|
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
|
rs1963420059
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
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.4646dup (p.Met1551fs)
|
rs2149721718
|
|
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)
|
rs1553612499
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)
|
rs2149720724
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
NM_000092.5(COL4A4):c.4809+1G>A
|
rs1553612309
|
|
NM_000092.5(COL4A4):c.487dup (p.Leu163fs)
|
|
|
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter)
|
rs1553611947
|
|
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
|
rs2061397001
|
|
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg)
|
|
|
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs)
|
rs1553611909
|
|
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu)
|
rs1553611876
|
|
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
|
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter)
|
|
|
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla)
|
rs1553688712
|
|
NM_000092.5(COL4A4):c.657+1G>T
|
rs1553688696
|
|
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs)
|
rs1553688330
|
|
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)
|
rs2060994526
|
|
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter)
|
rs1201925443
|
|
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
|
|
|
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
|
rs2060993539
|
|
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
|
rs760795817
|
|
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
|
|
|
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
|
|
|
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
|
|
|
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)
|
|
|
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp)
|
rs1005389790
|
|
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter)
|
rs34509421
|
|
NM_000092.5(COL4A4):c.975+1G>C
|
rs1553683192
|
|
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
|
|
|
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter)
|
rs2060521689
|
|