NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)
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rs765695793
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0.00001
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NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln)
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rs779935967
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0.00001
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GRCh38/hg38 17p13.3(chr17:2500691-2687314)
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GRCh38/hg38 2p16.3(chr2:50590007-50802034)
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GRCh38/hg38 5q23.1(chr5:119555413-119745470)
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GRCh38/hg38 Xq28(chrX:152819425-152869723)
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NC_000002.12:g.(?_1852302)_(2191394_?)dup
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NC_000007.14:g.(?_94402140)_(94406279_?)del
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NC_000023.11:g.(?_80671287)_(80671570_?)dup
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NM_000088.4(COL1A1):c.1002+5G>T
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rs1907566530
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NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala)
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rs1555574151
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NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala)
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rs1907512918
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NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)
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rs1598290382
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NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys)
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rs72653141
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NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala)
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rs1598288656
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NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala)
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rs1598288634
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NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala)
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rs72654797
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NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
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NM_000088.4(COL1A1):c.617G>T (p.Gly206Val)
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rs1598300054
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NM_000088.4(COL1A1):c.733G>T (p.Gly245Trp)
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rs1598299275
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NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)
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rs762653813
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NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp)
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rs1584319418
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NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)
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rs1791894410
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NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del)
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rs1791907178
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NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val)
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rs1584322737
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NM_000089.4(COL1A2):c.2295+5G>A
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NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)
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NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val)
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rs1584330959
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NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly)
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rs1584316181
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NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)
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rs1064794058
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NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg)
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rs1584318953
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NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)
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rs1131692167
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NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)
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rs72656389
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NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
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rs1054264002
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NM_000216.4(ANOS1):c.313del (p.Cys105fs)
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rs1601988004
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NM_000527.5(LDLR):c.373_379del (p.Gln125fs)
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rs2147223487
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NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
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NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
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NM_001354712.2(THRB):c.1357_1358delinsAA (p.Pro453Asn)
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NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)
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rs1555939415
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NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)
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rs1554570706
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NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del)
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rs1586375906
|
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NM_138711.6(PPARG):c.353G>A (p.Gly118Glu)
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rs2125177235
|
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