NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_001846.4(COL4A2):c.99+4A>G
|
rs200428476
|
0.00029
|
NM_001846.4(COL4A2):c.608A>T (p.His203Leu)
|
rs201716258
|
0.00024
|
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val)
|
rs370679299
|
0.00016
|
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)
|
rs558814304
|
0.00013
|
NM_001846.4(COL4A2):c.3346+5G>A
|
rs373295648
|
0.00012
|
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His)
|
rs200192119
|
0.00012
|
NM_001846.4(COL4A2):c.1978+4T>C
|
rs372577230
|
0.00011
|
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser)
|
rs761169216
|
0.00008
|
NM_001846.4(COL4A2):c.4286-12G>A
|
rs553663121
|
0.00008
|
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg)
|
rs200314049
|
0.00007
|
NM_001846.4(COL4A2):c.4673C>T (p.Ala1558Val)
|
rs374790851
|
0.00007
|
NM_001846.4(COL4A2):c.1465G>A (p.Asp489Asn)
|
rs777186602
|
0.00006
|
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr)
|
rs199875726
|
0.00006
|
NM_001846.4(COL4A2):c.4712C>T (p.Ala1571Val)
|
rs201300563
|
0.00006
|
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=)
|
rs775257372
|
0.00006
|
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln)
|
rs201640075
|
0.00006
|
NM_001846.4(COL4A2):c.2587+5G>C
|
rs756405925
|
0.00005
|
NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu)
|
rs749501904
|
0.00005
|
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser)
|
rs773783775
|
0.00004
|
NM_001846.4(COL4A2):c.1720G>A (p.Asp574Asn)
|
rs751105211
|
0.00004
|
NM_001846.4(COL4A2):c.2395C>T (p.Pro799Ser)
|
rs376694121
|
0.00004
|
NM_001846.4(COL4A2):c.2581C>T (p.Arg861Cys)
|
rs751658527
|
0.00004
|
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys)
|
rs199678709
|
0.00004
|
NM_001846.4(COL4A2):c.4247C>T (p.Pro1416Leu)
|
rs776279146
|
0.00004
|
NM_001846.4(COL4A2):c.164C>T (p.Pro55Leu)
|
rs1011806709
|
0.00003
|
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala)
|
rs780116763
|
0.00003
|
NM_001846.4(COL4A2):c.2530C>T (p.Pro844Ser)
|
rs763705148
|
0.00003
|
NM_001846.4(COL4A2):c.3297A>C (p.Leu1099Phe)
|
rs779464248
|
0.00003
|
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu)
|
rs201158095
|
0.00003
|
NM_001846.4(COL4A2):c.4678C>T (p.Arg1560Trp)
|
rs1353098387
|
0.00003
|
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser)
|
rs373806617
|
0.00003
|
NM_001846.4(COL4A2):c.5042A>G (p.Glu1681Gly)
|
rs777905652
|
0.00003
|
NM_001846.4(COL4A2):c.-44-1G>C
|
rs373395207
|
0.00002
|
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro)
|
rs909040713
|
0.00002
|
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg)
|
rs768662646
|
0.00002
|
NM_001846.4(COL4A2):c.360+1G>A
|
rs759305120
|
0.00002
|
NM_001846.4(COL4A2):c.4268G>C (p.Gly1423Ala)
|
rs759437629
|
0.00002
|
NM_001846.4(COL4A2):c.4403-8G>A
|
rs1271522986
|
0.00002
|
NM_001846.4(COL4A2):c.4744G>A (p.Glu1582Lys)
|
rs376636910
|
0.00002
|
NM_001846.4(COL4A2):c.4951C>T (p.Arg1651Cys)
|
rs569071842
|
0.00002
|
NM_001846.4(COL4A2):c.5066C>T (p.Ser1689Phe)
|
rs761162868
|
0.00002
|
NM_001846.4(COL4A2):c.5075C>T (p.Thr1692Met)
|
rs759315132
|
0.00002
|
NM_001846.4(COL4A2):c.733G>A (p.Val245Ile)
|
rs371879428
|
0.00002
|
NM_001846.4(COL4A2):c.1012-1G>A
|
rs1224451609
|
0.00001
|
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu)
|
rs746749693
|
0.00001
|
NM_001846.4(COL4A2):c.1135G>A (p.Glu379Lys)
|
rs1178832851
|
0.00001
|
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg)
|
rs779091629
|
0.00001
|
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn)
|
rs766981913
|
0.00001
|
NM_001846.4(COL4A2):c.1776+1G>A
|
rs886039602
|
0.00001
|
NM_001846.4(COL4A2):c.1879G>A (p.Gly627Ser)
|
rs771559117
|
0.00001
|
NM_001846.4(COL4A2):c.1912G>A (p.Ala638Thr)
|
rs758260445
|
0.00001
|
NM_001846.4(COL4A2):c.1979-2A>C
|
rs772735682
|
0.00001
|
NM_001846.4(COL4A2):c.2095+5T>C
|
rs376823280
|
0.00001
|
NM_001846.4(COL4A2):c.2176G>C (p.Gly726Arg)
|
rs770946467
|
0.00001
|
NM_001846.4(COL4A2):c.2326G>C (p.Val776Leu)
|
rs1882540552
|
0.00001
|
NM_001846.4(COL4A2):c.2546A>C (p.Gln849Pro)
|
rs761477697
|
0.00001
|
NM_001846.4(COL4A2):c.2698C>T (p.His900Tyr)
|
rs367545580
|
0.00001
|
NM_001846.4(COL4A2):c.2705G>C (p.Gly902Ala)
|
rs1388143812
|
0.00001
|
NM_001846.4(COL4A2):c.2781G>A (p.Met927Ile)
|
rs765543373
|
0.00001
|
NM_001846.4(COL4A2):c.2864C>T (p.Pro955Leu)
|
rs775430349
|
0.00001
|
NM_001846.4(COL4A2):c.313G>A (p.Val105Met)
|
rs772439696
|
0.00001
|
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp)
|
rs200165414
|
0.00001
|
NM_001846.4(COL4A2):c.323G>C (p.Arg108Thr)
|
rs1283852136
|
0.00001
|
NM_001846.4(COL4A2):c.3431C>T (p.Pro1144Leu)
|
rs1407273074
|
0.00001
|
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser)
|
rs1271683445
|
0.00001
|
NM_001846.4(COL4A2):c.3689A>G (p.Asp1230Gly)
|
rs1883424275
|
0.00001
|
NM_001846.4(COL4A2):c.3760+225C>T
|
rs375545555
|
0.00001
|
NM_001846.4(COL4A2):c.3760+5G>A
|
rs1883426997
|
0.00001
|
NM_001846.4(COL4A2):c.3817C>G (p.Pro1273Ala)
|
rs201442362
|
0.00001
|
NM_001846.4(COL4A2):c.3818C>A (p.Pro1273His)
|
rs928407150
|
0.00001
|
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser)
|
rs975120661
|
0.00001
|
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn)
|
rs369865437
|
0.00001
|
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn)
|
rs368612819
|
0.00001
|
NM_001846.4(COL4A2):c.4679G>A (p.Arg1560Gln)
|
rs1411209661
|
0.00001
|
NM_001846.4(COL4A2):c.4732G>A (p.Val1578Met)
|
rs376052562
|
0.00001
|
NM_001846.4(COL4A2):c.4738G>A (p.Glu1580Lys)
|
rs767665017
|
0.00001
|
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln)
|
rs748967769
|
0.00001
|
NM_001846.4(COL4A2):c.4864G>A (p.Gly1622Arg)
|
rs541766007
|
0.00001
|
NM_001846.4(COL4A2):c.5018G>C (p.Ser1673Thr)
|
rs754784235
|
0.00001
|
NM_001846.4(COL4A2):c.5110C>T (p.Arg1704Cys)
|
rs780380833
|
0.00001
|
NM_001846.4(COL4A2):c.535C>T (p.Arg179Cys)
|
rs751015466
|
0.00001
|
NM_001846.4(COL4A2):c.610G>A (p.Val204Met)
|
rs959464417
|
0.00001
|
NM_001846.4(COL4A2):c.664C>T (p.Pro222Ser)
|
rs1311495152
|
0.00001
|
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp)
|
rs372917662
|
0.00001
|
NM_001846.4(COL4A2):c.82G>A (p.Ala28Thr)
|
rs1338618226
|
0.00001
|
NM_001846.4(COL4A2):c.849A>C (p.Glu283Asp)
|
rs1880961913
|
0.00001
|
NC_000013.10:g.(?_111098156)_(111111301_?)del
|
|
|
NM_001846.4(COL4A2):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001846.4(COL4A2):c.1011+3G>A
|
|
|
NM_001846.4(COL4A2):c.1011+6C>T
|
rs1881302554
|
|
NM_001846.4(COL4A2):c.1021G>A (p.Gly341Arg)
|
rs1475888052
|
|
NM_001846.4(COL4A2):c.1029A>T (p.Pro343=)
|
|
|
NM_001846.4(COL4A2):c.103G>A (p.Val35Met)
|
|
|
NM_001846.4(COL4A2):c.1060C>T (p.His354Tyr)
|
|
|
NM_001846.4(COL4A2):c.1062C>G (p.His354Gln)
|
|
|
NM_001846.4(COL4A2):c.1079-3C>T
|
|
|
NM_001846.4(COL4A2):c.1091A>T (p.Asp364Val)
|
|
|
NM_001846.4(COL4A2):c.109A>C (p.Lys37Gln)
|
|
|
NM_001846.4(COL4A2):c.111G>C (p.Lys37Asn)
|
|
|
NM_001846.4(COL4A2):c.1148C>T (p.Pro383Leu)
|
|
|
NM_001846.4(COL4A2):c.1159G>T (p.Gly387Cys)
|
|
|
NM_001846.4(COL4A2):c.1162C>T (p.Pro388Ser)
|
|
|
NM_001846.4(COL4A2):c.1180G>A (p.Gly394Arg)
|
|
|
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu)
|
rs772448912
|
|
NM_001846.4(COL4A2):c.1216A>G (p.Met406Val)
|
|
|
NM_001846.4(COL4A2):c.1223C>G (p.Pro408Arg)
|
|
|
NM_001846.4(COL4A2):c.1241A>C (p.Asp414Ala)
|
|
|
NM_001846.4(COL4A2):c.124T>C (p.Cys42Arg)
|
|
|
NM_001846.4(COL4A2):c.1265G>A (p.Gly422Glu)
|
|
|
NM_001846.4(COL4A2):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001846.4(COL4A2):c.1268G>A (p.Gly423Asp)
|
rs2139481315
|
|
NM_001846.4(COL4A2):c.1287_1339+1dup
|
rs1566539998
|
|
NM_001846.4(COL4A2):c.1292G>A (p.Arg431Gln)
|
|
|
NM_001846.4(COL4A2):c.1298C>T (p.Pro433Leu)
|
|
|
NM_001846.4(COL4A2):c.1300C>T (p.Pro434Ser)
|
|
|
NM_001846.4(COL4A2):c.1309C>G (p.Pro437Ala)
|
|
|
NM_001846.4(COL4A2):c.1312G>A (p.Gly438Arg)
|
|
|
NM_001846.4(COL4A2):c.1340-4C>G
|
|
|
NM_001846.4(COL4A2):c.1364C>T (p.Ala455Val)
|
rs2139490864
|
|
NM_001846.4(COL4A2):c.1395del (p.Gly466fs)
|
rs747549182
|
|
NM_001846.4(COL4A2):c.1396G>A (p.Gly466Ser)
|
|
|
NM_001846.4(COL4A2):c.1452A>T (p.Arg484Ser)
|
|
|
NM_001846.4(COL4A2):c.1453T>C (p.Cys485Arg)
|
|
|
NM_001846.4(COL4A2):c.1463G>A (p.Gly488Asp)
|
|
|
NM_001846.4(COL4A2):c.1483C>A (p.Leu495Ile)
|
rs2139493545
|
|
NM_001846.4(COL4A2):c.1513G>T (p.Ala505Ser)
|
|
|
NM_001846.4(COL4A2):c.1525G>A (p.Gly509Arg)
|
|
|
NM_001846.4(COL4A2):c.1538G>A (p.Arg513Lys)
|
rs2139493755
|
|
NM_001846.4(COL4A2):c.1558C>T (p.Pro520Ser)
|
|
|
NM_001846.4(COL4A2):c.1611C>G (p.Asn537Lys)
|
|
|
NM_001846.4(COL4A2):c.1613T>C (p.Ile538Thr)
|
|
|
NM_001846.4(COL4A2):c.1624G>A (p.Gly542Arg)
|
rs534644575
|
|
NM_001846.4(COL4A2):c.163C>A (p.Pro55Thr)
|
|
|
NM_001846.4(COL4A2):c.1641A>T (p.Lys547Asn)
|
rs2139498824
|
|
NM_001846.4(COL4A2):c.1645G>A (p.Asp549Asn)
|
rs1392128437
|
|
NM_001846.4(COL4A2):c.1658T>C (p.Ile553Thr)
|
rs2139498877
|
|
NM_001846.4(COL4A2):c.1663A>C (p.Thr555Pro)
|
|
|
NM_001846.4(COL4A2):c.1670-13A>G
|
|
|
NM_001846.4(COL4A2):c.1697G>T (p.Gly566Val)
|
|
|
NM_001846.4(COL4A2):c.1727G>A (p.Ser576Asn)
|
rs1085307799
|
|
NM_001846.4(COL4A2):c.1733G>C (p.Gly578Ala)
|
|
|
NM_001846.4(COL4A2):c.1736G>A (p.Arg579His)
|
|
|
NM_001846.4(COL4A2):c.1747G>A (p.Asp583Asn)
|
|
|
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
|
|
|
NM_001846.4(COL4A2):c.1762C>T (p.Leu588Phe)
|
|
|
NM_001846.4(COL4A2):c.1775C>T (p.Pro592Leu)
|
rs2139499327
|
|
NM_001846.4(COL4A2):c.1776+1G>T
|
rs886039602
|
|
NM_001846.4(COL4A2):c.1776+20_1776+21delinsAA
|
|
|
NM_001846.4(COL4A2):c.1777-1G>C
|
rs2139503359
|
|
NM_001846.4(COL4A2):c.1784G>C (p.Gly595Ala)
|
|
|
NM_001846.4(COL4A2):c.1805A>G (p.Asp602Gly)
|
|
|
NM_001846.4(COL4A2):c.1824A>G (p.Ile608Met)
|
|
|
NM_001846.4(COL4A2):c.1885A>G (p.Lys629Glu)
|
|
|
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp)
|
rs1057523764
|
|
NM_001846.4(COL4A2):c.1907G>A (p.Gly636Glu)
|
|
|
NM_001846.4(COL4A2):c.1909G>A (p.Asp637Asn)
|
rs2139503578
|
|
NM_001846.4(COL4A2):c.1943G>T (p.Gly648Val)
|
rs2139503646
|
|
NM_001846.4(COL4A2):c.197T>C (p.Val66Ala)
|
|
|
NM_001846.4(COL4A2):c.2001G>C (p.Arg667Ser)
|
|
|
NM_001846.4(COL4A2):c.2030T>G (p.Ile677Ser)
|
|
|
NM_001846.4(COL4A2):c.2038+1G>A
|
|
|
NM_001846.4(COL4A2):c.205C>T (p.Gln69Ter)
|
rs1175562839
|
|
NM_001846.4(COL4A2):c.2070_2078del (p.688LPG[1])
|
|
|
NM_001846.4(COL4A2):c.2084del (p.Pro695fs)
|
|
|
NM_001846.4(COL4A2):c.2086G>A (p.Gly696Ser)
|
|
|
NM_001846.4(COL4A2):c.2090_2091del (p.Pro697fs)
|
rs1555330957
|
|
NM_001846.4(COL4A2):c.2093C>G (p.Thr698Arg)
|
|
|
NM_001846.4(COL4A2):c.2173G>A (p.Ala725Thr)
|
|
|
NM_001846.4(COL4A2):c.2177G>A (p.Gly726Asp)
|
|
|
NM_001846.4(COL4A2):c.217G>C (p.Gly73Arg)
|
|
|
NM_001846.4(COL4A2):c.2183A>T (p.Glu728Val)
|
|
|
NM_001846.4(COL4A2):c.2248G>C (p.Gly750Arg)
|
|
|
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu)
|
rs1882538642
|
|
NM_001846.4(COL4A2):c.2291A>G (p.Asp764Gly)
|
|
|
NM_001846.4(COL4A2):c.2297C>G (p.Pro766Arg)
|
rs1193775766
|
|
NM_001846.4(COL4A2):c.2308A>T (p.Arg770Trp)
|
|
|
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser)
|
rs886049976
|
|
NM_001846.4(COL4A2):c.2332G>A (p.Gly778Arg)
|
|
|
NM_001846.4(COL4A2):c.2341C>T (p.Pro781Ser)
|
|
|
NM_001846.4(COL4A2):c.2342C>G (p.Pro781Arg)
|
rs2139512765
|
|
NM_001846.4(COL4A2):c.2357A>T (p.Asp786Val)
|
|
|
NM_001846.4(COL4A2):c.2383C>T (p.Leu795Phe)
|
rs1340849111
|
|
NM_001846.4(COL4A2):c.2398G>A (p.Gly800Arg)
|
|
|
NM_001846.4(COL4A2):c.2408G>A (p.Gly803Asp)
|
|
|
NM_001846.4(COL4A2):c.2425+3G>A
|
|
|
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn)
|
rs372516991
|
|
NM_001846.4(COL4A2):c.2437A>T (p.Met813Leu)
|
|
|
NM_001846.4(COL4A2):c.2442_2450dup (p.Gly818_Leu819insMetProGly)
|
|
|
NM_001846.4(COL4A2):c.2447T>A (p.Met816Lys)
|
|
|
NM_001846.4(COL4A2):c.2461G>A (p.Gly821Ser)
|
|
|
NM_001846.4(COL4A2):c.2488G>A (p.Gly830Ser)
|
rs1333372502
|
|
NM_001846.4(COL4A2):c.2495C>T (p.Pro832Leu)
|
|
|
NM_001846.4(COL4A2):c.2539C>T (p.Pro847Ser)
|
rs2139519248
|
|
NM_001846.4(COL4A2):c.253G>A (p.Gly85Arg)
|
|
|
NM_001846.4(COL4A2):c.2552G>T (p.Gly851Val)
|
|
|
NM_001846.4(COL4A2):c.256C>T (p.Arg86Cys)
|
|
|
NM_001846.4(COL4A2):c.2582G>A (p.Arg861His)
|
|
|
NM_001846.4(COL4A2):c.2624G>C (p.Gly875Ala)
|
rs2139522138
|
|
NM_001846.4(COL4A2):c.2626G>A (p.Ala876Thr)
|
|
|
NM_001846.4(COL4A2):c.2635C>A (p.Pro879Thr)
|
|
|
NM_001846.4(COL4A2):c.2657C>T (p.Ser886Phe)
|
|
|
NM_001846.4(COL4A2):c.2672A>G (p.Asp891Gly)
|
|
|
NM_001846.4(COL4A2):c.2707A>G (p.Ser903Gly)
|
rs2139522253
|
|
NM_001846.4(COL4A2):c.2749G>A (p.Gly917Arg)
|
|
|
NM_001846.4(COL4A2):c.2770T>C (p.Ser924Pro)
|
|
|
NM_001846.4(COL4A2):c.2774C>G (p.Pro925Arg)
|
|
|
NM_001846.4(COL4A2):c.2798T>C (p.Met933Thr)
|
|
|
NM_001846.4(COL4A2):c.2799G>A (p.Met933Ile)
|
rs1336692495
|
|
NM_001846.4(COL4A2):c.2800C>T (p.Pro934Ser)
|
|
|
NM_001846.4(COL4A2):c.281G>A (p.Gly94Glu)
|
|
|
NM_001846.4(COL4A2):c.2821G>A (p.Gly941Arg)
|
|
|
NM_001846.4(COL4A2):c.2840G>T (p.Gly947Val)
|
|
|
NM_001846.4(COL4A2):c.2846C>T (p.Ala949Val)
|
rs778696475
|
|
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp)
|
rs754829210
|
|
NM_001846.4(COL4A2):c.284C>T (p.Ala95Val)
|
rs754829210
|
|
NM_001846.4(COL4A2):c.287C>T (p.Pro96Leu)
|
|
|
NM_001846.4(COL4A2):c.28G>A (p.Gly10Ser)
|
|
|
NM_001846.4(COL4A2):c.2902+3A>T
|
|
|
NM_001846.4(COL4A2):c.2921G>A (p.Gly974Glu)
|
|
|
NM_001846.4(COL4A2):c.292G>A (p.Val98Ile)
|
|
|
NM_001846.4(COL4A2):c.2954G>C (p.Gly985Ala)
|
|
|
NM_001846.4(COL4A2):c.2954_2955delinsTT (p.Gly985Val)
|
rs2139528190
|
|
NM_001846.4(COL4A2):c.2958G>A (p.Met986Ile)
|
|
|
NM_001846.4(COL4A2):c.2978A>G (p.Lys993Arg)
|
|
|
NM_001846.4(COL4A2):c.298G>A (p.Gly100Arg)
|
rs1251400296
|
|
NM_001846.4(COL4A2):c.3028A>G (p.Ile1010Val)
|
|
|
NM_001846.4(COL4A2):c.310G>A (p.Asp104Asn)
|
|
|
NM_001846.4(COL4A2):c.3124C>T (p.Pro1042Ser)
|
|
|
NM_001846.4(COL4A2):c.3125C>T (p.Pro1042Leu)
|
|
|
NM_001846.4(COL4A2):c.3136G>A (p.Gly1046Ser)
|
|
|
NM_001846.4(COL4A2):c.3143C>A (p.Pro1048Gln)
|
rs767119766
|
|
NM_001846.4(COL4A2):c.315+5G>A
|
rs1406323858
|
|
NM_001846.4(COL4A2):c.3155G>T (p.Gly1052Val)
|
|
|
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala)
|
rs201763437
|
|
NM_001846.4(COL4A2):c.3218G>A (p.Gly1073Asp)
|
|
|
NM_001846.4(COL4A2):c.3224C>T (p.Pro1075Leu)
|
|
|
NM_001846.4(COL4A2):c.322dup (p.Arg108fs)
|
|
|
NM_001846.4(COL4A2):c.3247G>A (p.Glu1083Lys)
|
|
|
NM_001846.4(COL4A2):c.3248A>G (p.Glu1083Gly)
|
|
|
NM_001846.4(COL4A2):c.3250A>G (p.Ile1084Val)
|
|
|
NM_001846.4(COL4A2):c.3251T>C (p.Ile1084Thr)
|
|
|
NM_001846.4(COL4A2):c.325G>T (p.Gly109Cys)
|
rs2139454203
|
|
NM_001846.4(COL4A2):c.3271G>A (p.Gly1091Ser)
|
|
|
NM_001846.4(COL4A2):c.3272G>T (p.Gly1091Val)
|
rs2139534208
|
|
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
|
|
|
NM_001846.4(COL4A2):c.3280G>A (p.Gly1094Arg)
|
|
|
NM_001846.4(COL4A2):c.3287C>T (p.Thr1096Ile)
|
|
|
NM_001846.4(COL4A2):c.3301G>A (p.Gly1101Arg)
|
|
|
NM_001846.4(COL4A2):c.3346+3dup
|
|
|
NM_001846.4(COL4A2):c.3389T>C (p.Ile1130Thr)
|
|
|
NM_001846.4(COL4A2):c.3436G>A (p.Gly1146Arg)
|
|
|
NM_001846.4(COL4A2):c.3454+5A>T
|
|
|
NM_001846.4(COL4A2):c.347C>T (p.Ala116Val)
|
|
|
NM_001846.4(COL4A2):c.3487C>G (p.Gln1163Glu)
|
rs1594106494
|
|
NM_001846.4(COL4A2):c.3491G>C (p.Gly1164Ala)
|
|
|
NM_001846.4(COL4A2):c.3499G>A (p.Gly1167Arg)
|
|
|
NM_001846.4(COL4A2):c.349G>A (p.Asp117Asn)
|
rs374976511
|
|
NM_001846.4(COL4A2):c.3508G>A (p.Gly1170Arg)
|
|
|
NM_001846.4(COL4A2):c.350A>G (p.Asp117Gly)
|
|
|
NM_001846.4(COL4A2):c.3535G>A (p.Gly1179Ser)
|
rs1206297668
|
|
NM_001846.4(COL4A2):c.3536G>C (p.Gly1179Ala)
|
|
|
NM_001846.4(COL4A2):c.3542C>T (p.Pro1181Leu)
|
|
|
NM_001846.4(COL4A2):c.3548C>T (p.Ala1183Val)
|
|
|
NM_001846.4(COL4A2):c.3563-4G>C
|
rs562701263
|
|
NM_001846.4(COL4A2):c.3586C>T (p.Arg1196Cys)
|
|
|
NM_001846.4(COL4A2):c.3587G>A (p.Arg1196His)
|
|
|
NM_001846.4(COL4A2):c.3589G>A (p.Gly1197Ser)
|
|
|
NM_001846.4(COL4A2):c.360+6T>C
|
rs1131691273
|
|
NM_001846.4(COL4A2):c.361-15T>A
|
|
|
NM_001846.4(COL4A2):c.3613A>G (p.Lys1205Glu)
|
|
|
NM_001846.4(COL4A2):c.3632C>T (p.Pro1211Leu)
|
|
|
NM_001846.4(COL4A2):c.3635-3C>T
|
|
|
NM_001846.4(COL4A2):c.3686del (p.Gly1229fs)
|
rs1883424044
|
|
NM_001846.4(COL4A2):c.368C>T (p.Pro123Leu)
|
|
|
NM_001846.4(COL4A2):c.3695G>C (p.Gly1232Ala)
|
|
|
NM_001846.4(COL4A2):c.3712C>A (p.Pro1238Thr)
|
|
|
NM_001846.4(COL4A2):c.3712C>G (p.Pro1238Ala)
|
|
|
NM_001846.4(COL4A2):c.3712C>T (p.Pro1238Ser)
|
|
|
NM_001846.4(COL4A2):c.3747C>A (p.Asp1249Glu)
|
|
|
NM_001846.4(COL4A2):c.3762G>A (p.Gly1254=)
|
|
|
NM_001846.4(COL4A2):c.3767G>A (p.Arg1256Gln)
|
|
|
NM_001846.4(COL4A2):c.3769G>A (p.Gly1257Ser)
|
rs2139549819
|
|
NM_001846.4(COL4A2):c.376G>T (p.Gly126Cys)
|
|
|
NM_001846.4(COL4A2):c.377G>A (p.Gly126Asp)
|
rs1880549875
|
|
NM_001846.4(COL4A2):c.3796G>T (p.Gly1266Trp)
|
rs1555333415
|
|
NM_001846.4(COL4A2):c.3842G>A (p.Gly1281Asp)
|
rs2139549975
|
|
NM_001846.4(COL4A2):c.3878-3C>T
|
|
|
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
|
|
|
NM_001846.4(COL4A2):c.389del (p.Gly130fs)
|
rs758180751
|
|
NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)
|
|
|
NM_001846.4(COL4A2):c.3982G>T (p.Ala1328Ser)
|
|
|
NM_001846.4(COL4A2):c.4039+6A>T
|
|
|
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp)
|
rs2139552522
|
|
NM_001846.4(COL4A2):c.4051G>A (p.Glu1351Lys)
|
|
|
NM_001846.4(COL4A2):c.4058G>C (p.Gly1353Ala)
|
rs1064795332
|
|
NM_001846.4(COL4A2):c.4089_4090delinsAT (p.Val1364Leu)
|
rs2139552619
|
|
NM_001846.4(COL4A2):c.4126C>G (p.Pro1376Ala)
|
|
|
NM_001846.4(COL4A2):c.4141G>A (p.Ala1381Thr)
|
|
|
NM_001846.4(COL4A2):c.4249G>T (p.Gly1417Trp)
|
|
|
NM_001846.4(COL4A2):c.4276G>A (p.Gly1426Arg)
|
rs2139553655
|
|
NM_001846.4(COL4A2):c.4285+4G>T
|
|
|
NM_001846.4(COL4A2):c.4290_4291delinsTT (p.Arg1431Cys)
|
rs2139553984
|
|
NM_001846.4(COL4A2):c.4316C>T (p.Pro1439Leu)
|
|
|
NM_001846.4(COL4A2):c.4354C>T (p.Arg1452Trp)
|
|
|
NM_001846.4(COL4A2):c.4381C>G (p.Gln1461Glu)
|
rs1883762955
|
|
NM_001846.4(COL4A2):c.4388C>T (p.Pro1463Leu)
|
rs766824658
|
|
NM_001846.4(COL4A2):c.4390A>G (p.Ile1464Val)
|
|
|
NM_001846.4(COL4A2):c.4426C>G (p.Pro1476Ala)
|
rs2139558047
|
|
NM_001846.4(COL4A2):c.4451G>A (p.Arg1484His)
|
|
|
NM_001846.4(COL4A2):c.4453A>G (p.Ser1485Gly)
|
rs753103440
|
|
NM_001846.4(COL4A2):c.4465G>A (p.Gly1489Ser)
|
|
|
NM_001846.4(COL4A2):c.4466G>A (p.Gly1489Asp)
|
rs1025762255
|
|
NM_001846.4(COL4A2):c.4468T>C (p.Tyr1490His)
|
|
|
NM_001846.4(COL4A2):c.446C>A (p.Pro149His)
|
|
|
NM_001846.4(COL4A2):c.4487G>C (p.Ser1496Thr)
|
|
|
NM_001846.4(COL4A2):c.4493C>T (p.Thr1498Met)
|
|
|
NM_001846.4(COL4A2):c.449C>T (p.Pro150Leu)
|
|
|
NM_001846.4(COL4A2):c.45-1G>A
|
|
|
NM_001846.4(COL4A2):c.4514_4515inv (p.Pro1505Leu)
|
|
|
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys)
|
rs182278784
|
|
NM_001846.4(COL4A2):c.4577C>T (p.Ala1526Val)
|
|
|
NM_001846.4(COL4A2):c.4591C>G (p.Leu1531Val)
|
|
|
NM_001846.4(COL4A2):c.4594+6T>C
|
|
|
NM_001846.4(COL4A2):c.4597C>A (p.Leu1533Met)
|
|
|
NM_001846.4(COL4A2):c.4600G>T (p.Ala1534Ser)
|
|
|
NM_001846.4(COL4A2):c.4619G>A (p.Arg1540Gln)
|
|
|
NM_001846.4(COL4A2):c.4646G>A (p.Cys1549Tyr)
|
|
|
NM_001846.4(COL4A2):c.4709C>A (p.Thr1570Asn)
|
rs2139560153
|
|
NM_001846.4(COL4A2):c.4765C>T (p.Arg1589Cys)
|
|
|
NM_001846.4(COL4A2):c.4766G>A (p.Arg1589His)
|
|
|
NM_001846.4(COL4A2):c.477+7A>G
|
|
|
NM_001846.4(COL4A2):c.4772C>G (p.Ser1591Cys)
|
|
|
NM_001846.4(COL4A2):c.4780G>C (p.Glu1594Gln)
|
|
|
NM_001846.4(COL4A2):c.4784C>G (p.Ala1595Gly)
|
|
|
NM_001846.4(COL4A2):c.4807C>A (p.His1603Asn)
|
|
|
NM_001846.4(COL4A2):c.4815G>C (p.Gln1605His)
|
rs746358473
|
|
NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser)
|
|
|
NM_001846.4(COL4A2):c.4843G>T (p.Gly1615Trp)
|
|
|
NM_001846.4(COL4A2):c.4863_4867del (p.Gly1622fs)
|
|
|
NM_001846.4(COL4A2):c.4881+6T>A
|
|
|
NM_001846.4(COL4A2):c.4882-11T>C
|
rs1884094379
|
|
NM_001846.4(COL4A2):c.4894G>C (p.Gly1632Arg)
|
|
|
NM_001846.4(COL4A2):c.4903G>A (p.Gly1635Ser)
|
|
|
NM_001846.4(COL4A2):c.4912C>T (p.Gln1638Ter)
|
rs2139564451
|
|
NM_001846.4(COL4A2):c.491C>A (p.Pro164Gln)
|
|
|
NM_001846.4(COL4A2):c.4921G>A (p.Val1641Met)
|
|
|
NM_001846.4(COL4A2):c.4922T>C (p.Val1641Ala)
|
|
|
NM_001846.4(COL4A2):c.4928C>T (p.Pro1643Leu)
|
|
|
NM_001846.4(COL4A2):c.4952G>A (p.Arg1651His)
|
|
|
NM_001846.4(COL4A2):c.4984C>T (p.Arg1662Cys)
|
|
|
NM_001846.4(COL4A2):c.4G>C (p.Gly2Arg)
|
rs752976373
|
|
NM_001846.4(COL4A2):c.5004C>G (p.Tyr1668Ter)
|
|
|
NM_001846.4(COL4A2):c.5005G>A (p.Ala1669Thr)
|
rs199959120
|
|
NM_001846.4(COL4A2):c.5007CAA[1] (p.Asn1670del)
|
rs781056404
|
|
NM_001846.4(COL4A2):c.5032A>G (p.Thr1678Ala)
|
|
|
NM_001846.4(COL4A2):c.5039C>G (p.Pro1680Arg)
|
|
|
NM_001846.4(COL4A2):c.5053C>G (p.Gln1685Glu)
|
rs2139564639
|
|
NM_001846.4(COL4A2):c.5056G>T (p.Gly1686Cys)
|
rs778961988
|
|
NM_001846.4(COL4A2):c.5086G>A (p.Gly1696Ser)
|
|
|
NM_001846.4(COL4A2):c.5122_5138del (p.Cys1708fs)
|
rs1280406576
|
|
NM_001846.4(COL4A2):c.5128A>C (p.Lys1710Gln)
|
|
|
NM_001846.4(COL4A2):c.522_525del (p.Pro175fs)
|
rs2139458607
|
|
NM_001846.4(COL4A2):c.551G>T (p.Gly184Val)
|
rs1555328401
|
|
NM_001846.4(COL4A2):c.577G>A (p.Gly193Ser)
|
|
|
NM_001846.4(COL4A2):c.585+4A>C
|
|
|
NM_001846.4(COL4A2):c.595G>A (p.Gly199Ser)
|
|
|
NM_001846.4(COL4A2):c.605G>A (p.Gly202Glu)
|
|
|
NM_001846.4(COL4A2):c.643A>G (p.Arg215Gly)
|
|
|
NM_001846.4(COL4A2):c.656C>T (p.Pro219Leu)
|
|
|
NM_001846.4(COL4A2):c.661C>A (p.Pro221Thr)
|
|
|
NM_001846.4(COL4A2):c.690C>G (p.Asn230Lys)
|
|
|
NM_001846.4(COL4A2):c.726+3A>G
|
rs2139462565
|
|
NM_001846.4(COL4A2):c.726+4A>G
|
rs2139462568
|
|
NM_001846.4(COL4A2):c.726G>A (p.Lys242=)
|
rs1463099199
|
|
NM_001846.4(COL4A2):c.727-8A>G
|
|
|
NM_001846.4(COL4A2):c.734T>C (p.Val245Ala)
|
rs746759612
|
|
NM_001846.4(COL4A2):c.734T>G (p.Val245Gly)
|
|
|
NM_001846.4(COL4A2):c.743C>T (p.Pro248Leu)
|
|
|
NM_001846.4(COL4A2):c.788C>T (p.Ala263Val)
|
|
|
NM_001846.4(COL4A2):c.812C>T (p.Pro271Leu)
|
|
|
NM_001846.4(COL4A2):c.825+1G>A
|
|
|
NM_001846.4(COL4A2):c.825+5A>T
|
|
|
NM_001846.4(COL4A2):c.826-1G>T
|
|
|
NM_001846.4(COL4A2):c.827G>T (p.Gly276Val)
|
rs372917662
|
|
NM_001846.4(COL4A2):c.829G>A (p.Glu277Lys)
|
|
|
NM_001846.4(COL4A2):c.838A>G (p.Ser280Gly)
|
|
|
NM_001846.4(COL4A2):c.83C>T (p.Ala28Val)
|
|
|
NM_001846.4(COL4A2):c.862-15T>A
|
|
|
NM_001846.4(COL4A2):c.882A>T (p.Glu294Asp)
|
rs2139467210
|
|
NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter)
|
|
|
NM_001846.4(COL4A2):c.900T>A (p.Phe300Leu)
|
|
|
NM_001846.4(COL4A2):c.912+18T>G
|
|
|
NM_001846.4(COL4A2):c.919C>G (p.Pro307Ala)
|
|
|
NM_001846.4(COL4A2):c.92T>C (p.Val31Ala)
|
|
|
NM_001846.4(COL4A2):c.930T>A (p.Ser310Arg)
|
|
|
NM_001846.4(COL4A2):c.940G>C (p.Gly314Arg)
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NM_001846.4(COL4A2):c.941G>T (p.Gly314Val)
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NM_001846.4(COL4A2):c.953A>G (p.Gln318Arg)
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NM_001846.4(COL4A2):c.953A>T (p.Gln318Leu)
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NM_001846.4(COL4A2):c.980A>G (p.Tyr327Cys)
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rs1881300877
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NM_001846.4(COL4A2):c.988C>T (p.Pro330Ser)
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