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NM_000091.5(COL4A3):c.889-39T>C
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NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
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NM_000091.5(COL4A3):c.2021-54T>C
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NM_000091.5(COL4A3):c.280-40T>G
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NM_000091.5(COL4A3):c.687+103T>A
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NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)
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NM_000091.5(COL4A3):c.3882+132T>C
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NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
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NM_000092.5(COL4A4):c.3818-15C>T
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NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr)
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NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
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NM_000091.5(COL4A3):c.888+17G>A
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NM_000092.5(COL4A4):c.1812T>C (p.His604=)
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NM_000091.5(COL4A3):c.21C>A (p.Pro7=)
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NM_000091.5(COL4A3):c.2489-18T>A
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NM_000092.5(COL4A4):c.2877C>T (p.Pro959=)
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NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=)
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NM_000091.5(COL4A3):c.204T>C (p.Pro68=)
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NM_000092.5(COL4A4):c.930+11T>C
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NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=)
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NM_000092.5(COL4A4):c.2073A>G (p.Pro691=)
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NM_000091.5(COL4A3):c.2391T>C (p.Pro797=)
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NM_000092.5(COL4A4):c.1987+16T>A
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NM_000092.5(COL4A4):c.2717-17T>C
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NM_000091.5(COL4A3):c.2125+14T>A
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NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=)
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NM_000091.5(COL4A3):c.442-15T>C
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NM_000091.5(COL4A3):c.468+8A>G
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NM_000092.5(COL4A4):c.4590G>A (p.Val1530=)
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NM_000091.5(COL4A3):c.4449C>T (p.His1483=)
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NM_000092.5(COL4A4):c.2546-6T>C
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NM_000092.5(COL4A4):c.595-18G>A
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NM_000091.5(COL4A3):c.4755+18A>G
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NM_000092.5(COL4A4):c.543C>T (p.Ala181=)
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NM_000091.5(COL4A3):c.325-20G>A
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NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=)
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NM_000091.5(COL4A3):c.1115-12A>G
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NM_000091.5(COL4A3):c.3211-13G>C
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NM_000091.5(COL4A3):c.934-6C>A
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NM_000091.5(COL4A3):c.988-6C>T
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NM_000092.5(COL4A4):c.1665G>A (p.Ala555=)
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NM_000092.5(COL4A4):c.1782A>G (p.Glu594=)
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NM_000092.5(COL4A4):c.2145G>A (p.Ala715=)
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NM_000092.5(COL4A4):c.2613C>T (p.Leu871=)
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NM_000092.5(COL4A4):c.2925G>A (p.Gly975=)
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NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=)
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NM_000091.5(COL4A3):c.2489-9C>T
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NM_000091.5(COL4A3):c.714G>A (p.Pro238=)
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NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=)
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NM_000092.5(COL4A4):c.4091-18C>T
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NM_000092.5(COL4A4):c.4091-336C>T
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NM_000092.5(COL4A4):c.4091-356_4091-355dup
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NM_000092.5(COL4A4):c.72-18G>A
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NM_000091.5(COL4A3):c.1875T>C (p.Gly625=)
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NM_000091.5(COL4A3):c.1908C>T (p.Pro636=)
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NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
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NM_000092.5(COL4A4):c.1987+8T>A
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NM_000092.5(COL4A4):c.4091-330T>C
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NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=)
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NM_000091.5(COL4A3):c.1539A>C (p.Pro513=)
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NM_000091.5(COL4A3):c.1860C>T (p.Pro620=)
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NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)
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NM_000091.5(COL4A3):c.2489-5C>T
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NM_000091.5(COL4A3):c.3337+15T>C
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NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=)
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NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser)
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NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=)
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NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=)
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NM_000091.5(COL4A3):c.45G>A (p.Pro15=)
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NM_000091.5(COL4A3):c.4756-68A>G
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NM_000091.5(COL4A3):c.4851T>C (p.His1617=)
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NM_000091.5(COL4A3):c.933+9T>C
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NM_000092.5(COL4A4):c.2383+9G>C
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NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=)
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NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=)
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NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=)
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NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=)
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NM_000092.5(COL4A4):c.4081+7T>C
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NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=)
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NM_000091.5(COL4A3):c.1311G>C (p.Pro437=)
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NM_000091.5(COL4A3):c.1408+35C>T
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NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)
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NM_000091.5(COL4A3):c.222G>A (p.Pro74=)
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NM_000091.5(COL4A3):c.2746+9T>C
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NM_000091.5(COL4A3):c.280-10_280-9del
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NM_000091.5(COL4A3):c.3211-7A>G
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NM_000091.5(COL4A3):c.325-18G>T
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NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=)
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NM_000091.5(COL4A3):c.4028-15T>C
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NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)
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NM_000091.5(COL4A3):c.4756-69A>G
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NM_000091.5(COL4A3):c.4756-74A>C
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NM_000091.5(COL4A3):c.766-7T>C
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NM_000091.5(COL4A3):c.828+84T>G
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NM_000092.5(COL4A4):c.1176C>T (p.Leu392=)
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NM_000092.5(COL4A4):c.1370-17C>A
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NM_000092.5(COL4A4):c.1459+16dup
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NM_000092.5(COL4A4):c.1987+15dup
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NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
|
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NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG
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NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
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NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=)
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NM_000092.5(COL4A4):c.4081+15T>C
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NM_000092.5(COL4A4):c.4081+22A>G
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NM_000092.5(COL4A4):c.4091-323A>G
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NM_000092.5(COL4A4):c.4091-346A>G
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NM_000092.5(COL4A4):c.4091-348T>C
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NM_000092.5(COL4A4):c.4091-349G>A
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NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=)
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