NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
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rs104886142
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0.00005
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GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
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NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter)
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rs1603287820
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NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser)
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rs281874667
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NM_033380.3(COL4A5):c.1424-2A>C
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rs759179999
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NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
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NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp)
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rs1603290148
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NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del)
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rs1603290199
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NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)
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rs1603290681
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NM_033380.3(COL4A5):c.188dup (p.Phe64fs)
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rs1603276159
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NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val)
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rs281874683
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NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs)
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rs1603291770
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NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg)
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rs1603292021
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NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
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NM_033380.3(COL4A5):c.225del (p.Gln76fs)
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rs1603276180
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NM_033380.3(COL4A5):c.2300dup (p.Lys768fs)
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rs1603293553
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NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)
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rs1603293570
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NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg)
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rs1603293605
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NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu)
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rs1603293624
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NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val)
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rs1291655627
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NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val)
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rs1603297334
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NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
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NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
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rs104886221
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NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)
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rs281874712
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NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
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rs104886228
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NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser)
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rs104886236
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NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg)
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rs1569488426
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NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
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rs1569505771
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NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)
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rs104886255
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NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser)
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rs1603311030
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NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
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rs1556453276
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NM_033380.3(COL4A5):c.4217-1G>A
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rs587776402
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NM_033380.3(COL4A5):c.446del (p.Pro149fs)
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rs104886054
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NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter)
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rs1603323355
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NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs)
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rs1603326397
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NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)
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rs104886298
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NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
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rs281874753
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NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg)
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rs281874755
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NM_033380.3(COL4A5):c.546+1G>A
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rs104886429
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NM_033380.3(COL4A5):c.546+2dup
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rs1569489353
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NM_033380.3(COL4A5):c.609+1G>A
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rs104886434
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NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp)
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rs104886063
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NM_033380.3(COL4A5):c.645+1G>T
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rs1603282474
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NM_033380.3(COL4A5):c.687del (p.Gly230fs)
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rs1556405926
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NM_033380.3(COL4A5):c.761_762del (p.Glu254fs)
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rs104886443
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NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
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|
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NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)
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rs104886450
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NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
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NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
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NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)
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rs104886088
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NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg)
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rs104886088
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