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.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_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.2752G>A (p.Gly918Arg)
|
rs372606845
|
0.00002
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
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.4858G>A (p.Gly1620Ser)
|
rs1271416659
|
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_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.1240G>C (p.Gly414Arg)
|
|
|
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.1352G>T (p.Gly451Val)
|
|
|
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.1505del (p.Pro502fs)
|
|
|
NM_000092.5(COL4A4):c.1517G>A (p.Gly506Glu)
|
|
|
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>A (p.Gly515Glu)
|
|
|
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val)
|
rs2150595484
|
|
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
|
|
|
NM_000092.5(COL4A4):c.1615G>A (p.Gly539Arg)
|
|
|
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.1724G>C (p.Gly575Ala)
|
|
|
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
|
|
|
NM_000092.5(COL4A4):c.1759G>T (p.Gly587Cys)
|
|
|
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.193-2del
|
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.193G>C (p.Gly65Arg)
|
|
|
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.1981C>T (p.Gln661Ter)
|
|
|
NM_000092.5(COL4A4):c.2074G>A (p.Gly692Ser)
|
|
|
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.213_239del (p.Pro72_Gly80del)
|
|
|
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
|
|
|
NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp)
|
|
|
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.2375G>A (p.Gly792Glu)
|
|
|
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.2608G>A (p.Gly870Ser)
|
|
|
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.2663G>A (p.Gly888Glu)
|
|
|
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
|
|
|
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
|
|
|
NM_000092.5(COL4A4):c.2698G>T (p.Gly900Cys)
|
|
|
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.3080G>T (p.Gly1027Val)
|
|
|
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.3262G>A (p.Gly1088Ser)
|
|
|
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
|
|
|
NM_000092.5(COL4A4):c.327+1_327+5del
|
|
|
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.3560G>C (p.Gly1187Ala)
|
|
|
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter)
|
rs1968848668
|
|
NM_000092.5(COL4A4):c.3574_3577+8del
|
rs1553627655
|
|
NM_000092.5(COL4A4):c.3585_3588dup (p.Val1197Ter)
|
|
|
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.3636_3637del (p.Gly1213fs)
|
|
|
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.3836G>T (p.Gly1279Val)
|
|
|
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.4192G>A (p.Gly1398Arg)
|
|
|
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
|
|
|
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
|
|
|
NM_000092.5(COL4A4):c.4279G>A (p.Gly1427Arg)
|
|
|
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.509G>A (p.Gly170Glu)
|
|
|
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.676G>A (p.Gly226Arg)
|
|
|
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
|
|