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NM_000393.5(COL5A2):c.3039+15C>T
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NM_000393.5(COL5A2):c.960+35T>C
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NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
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NM_000393.5(COL5A2):c.2931+11C>T
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NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
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NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=)
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NM_000393.5(COL5A2):c.322+18C>G
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NM_000393.5(COL5A2):c.745-13G>A
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NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
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NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
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NM_000393.5(COL5A2):c.2230-16T>A
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NM_000393.5(COL5A2):c.98-13T>A
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NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
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NM_000393.5(COL5A2):c.3526-45A>T
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NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
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NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)
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NM_000393.5(COL5A2):c.2634A>G (p.Gln878=)
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NM_000393.5(COL5A2):c.403-3T>C
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NM_000393.5(COL5A2):c.2770-6T>C
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NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
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NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=)
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NM_000393.5(COL5A2):c.799-6A>G
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NM_000393.5(COL5A2):c.906+10A>T
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NM_000393.5(COL5A2):c.1159-10A>G
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NM_000393.5(COL5A2):c.1159-13T>C
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NM_000393.5(COL5A2):c.1303-16T>A
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NM_000393.5(COL5A2):c.1618-8C>T
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NM_000393.5(COL5A2):c.2334C>T (p.Asp778=)
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NM_000393.5(COL5A2):c.2392-18T>C
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NM_000393.5(COL5A2):c.2392-4A>G
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NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)
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NM_000393.5(COL5A2):c.2554-5T>C
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NM_000393.5(COL5A2):c.2841T>A (p.Pro947=)
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NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
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NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=)
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NM_000393.5(COL5A2):c.323-15C>G
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NM_000393.5(COL5A2):c.3472-16T>C
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NM_000393.5(COL5A2):c.4114-17A>G
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NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=)
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NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
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NM_000393.5(COL5A2):c.-16_-15insCTAACCCACATCAT
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|
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NM_000393.5(COL5A2):c.-37del
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NM_000393.5(COL5A2):c.1105-11T>G
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NM_000393.5(COL5A2):c.1179G>A (p.Gly393=)
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NM_000393.5(COL5A2):c.1257+12G>A
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NM_000393.5(COL5A2):c.1258-91T>G
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NM_000393.5(COL5A2):c.1440C>T (p.Gly480=)
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NM_000393.5(COL5A2):c.1455+6G>A
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NM_000393.5(COL5A2):c.1455+6G>T
|
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|
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NM_000393.5(COL5A2):c.1455+6del
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NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
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NM_000393.5(COL5A2):c.153G>A (p.Arg51=)
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NM_000393.5(COL5A2):c.1716+7A>G
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|
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NM_000393.5(COL5A2):c.1923+3dup
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NM_000393.5(COL5A2):c.1977+12T>C
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NM_000393.5(COL5A2):c.1977+6T>A
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|
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NM_000393.5(COL5A2):c.2031+49dup
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|
|
NM_000393.5(COL5A2):c.2031+68del
|
rs111688859
|
|
NM_000393.5(COL5A2):c.2032-57T>C
|
rs13416565
|
|
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=)
|
rs1553515128
|
|
NM_000393.5(COL5A2):c.204C>A (p.Ala68=)
|
rs1553519038
|
|
NM_000393.5(COL5A2):c.2392-228A>C
|
rs114497915
|
|
NM_000393.5(COL5A2):c.2500-17T>C
|
rs530643338
|
|
NM_000393.5(COL5A2):c.2553+5A>T
|
rs371072906
|
|
NM_000393.5(COL5A2):c.2769+10C>T
|
rs777299355
|
|
NM_000393.5(COL5A2):c.2770-20T>G
|
rs1553514295
|
|
NM_000393.5(COL5A2):c.3039+15C>A
|
rs114619770
|
|
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=)
|
rs751945982
|
|
NM_000393.5(COL5A2):c.3147+243A>C
|
rs13383366
|
|
NM_000393.5(COL5A2):c.323-9T>A
|
rs1553518634
|
|
NM_000393.5(COL5A2):c.3310-132CA[13]
|
rs111268949
|
|
NM_000393.5(COL5A2):c.337-212dup
|
rs143135434
|
|
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln)
|
rs562950263
|
|
NM_000393.5(COL5A2):c.3570T>C (p.Pro1190=)
|
rs1553513205
|
|
NM_000393.5(COL5A2):c.369+20T>A
|
rs1057523292
|
|
NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=)
|
rs1057524370
|
|
NM_000393.5(COL5A2):c.4113+16del
|
rs779762130
|
|
NM_000393.5(COL5A2):c.4114-18_4114-17del
|
rs1440458273
|
|
NM_000393.5(COL5A2):c.4114-20A>G
|
rs1057523545
|
|
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=)
|
rs1685417610
|
|
NM_000393.5(COL5A2):c.4353+8C>G
|
rs1057523735
|
|
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=)
|
rs1576482924
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.568-15A>G
|
rs1057522247
|
|
NM_000393.5(COL5A2):c.568-166_568-163del
|
rs75422763
|
|
NM_000393.5(COL5A2):c.852+250G>A
|
rs10166867
|
|
NM_000393.5(COL5A2):c.853-13G>A
|
rs1553516867
|
|
NM_000393.5(COL5A2):c.861T>G (p.Arg287=)
|
rs1559094497
|
|
NM_000393.5(COL5A2):c.906+12C>G
|
rs1057521955
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|