NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
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rs376923069
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0.00003
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NM_004415.4(DSP):c.2436+2T>C
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rs774514264
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0.00001
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NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
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rs767643821
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0.00001
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NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
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rs1561703331
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0.00001
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NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
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rs1464253797
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0.00001
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NC_000006.11:g.(?_7552967)_(7579627_?)del
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NC_000006.11:g.(?_7565582)_(7568149_?)del
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NC_000006.11:g.(?_7576220)_(7581055_?)del
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NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
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NM_004415.4(DSP):c.1045-1G>C
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NM_004415.4(DSP):c.1141-1G>A
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rs2113673067
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NM_004415.4(DSP):c.1267-2A>G
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rs1554106830
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NM_004415.4(DSP):c.1420-1G>T
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rs1060500609
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NM_004415.4(DSP):c.1420-2A>G
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NM_004415.4(DSP):c.1574+1G>A
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rs1758971797
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NM_004415.4(DSP):c.1574+1G>C
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rs1758971797
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NM_004415.4(DSP):c.169_170+13del
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rs2113629234
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NM_004415.4(DSP):c.170+1G>A
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rs1309931610
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NM_004415.4(DSP):c.1701+2T>C
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NM_004415.4(DSP):c.1702-1G>T
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NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)
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rs606231294
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NM_004415.4(DSP):c.1853A>C (p.His618Pro)
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rs1554107096
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NM_004415.4(DSP):c.1903+1G>T
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NM_004415.4(DSP):c.1904-2A>G
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rs2113679702
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NM_004415.4(DSP):c.2130+1G>A
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rs727505115
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NM_004415.4(DSP):c.2297+2T>C
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rs796218194
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NM_004415.4(DSP):c.2298-1G>C
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rs1417627909
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NM_004415.4(DSP):c.2298-2A>C
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rs1759176299
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NM_004415.4(DSP):c.2436+1G>A
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rs2113684305
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NM_004415.4(DSP):c.2437-1G>C
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rs1057517903
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NM_004415.4(DSP):c.273+1G>A
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rs794728106
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NM_004415.4(DSP):c.2793+1G>T
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rs1554107741
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NM_004415.4(DSP):c.2794-1G>A
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rs1759258675
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NM_004415.4(DSP):c.2877+1G>A
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rs2113687794
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NM_004415.4(DSP):c.2877+2T>C
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rs2113687807
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NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
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NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs)
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NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
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NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
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rs1561698362
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NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
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rs770873593
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NM_004415.4(DSP):c.422+1G>A
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NM_004415.4(DSP):c.422+2T>G
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rs2113657846
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NM_004415.4(DSP):c.423-1G>T
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rs1304410089
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NM_004415.4(DSP):c.423-2A>G
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rs2113659544
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NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
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NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
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NM_004415.4(DSP):c.4625_4626del (p.Asp1541_Tyr1542insTer)
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NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
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NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
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rs1554108410
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NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
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NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
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rs1394836623
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NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
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NM_004415.4(DSP):c.597+1G>A
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rs2113660108
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NM_004415.4(DSP):c.6273del (p.Ala2092fs)
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rs794728146
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NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)
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rs777573018
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NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
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rs1561702640
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NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)
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NM_004415.4(DSP):c.7745_7746del (p.Val2581_Phe2582insTer)
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NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
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NM_004415.4(DSP):c.777+2T>C
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NM_004415.4(DSP):c.778-2A>G
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rs113726158
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NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter)
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rs1163244913
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NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
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NM_004415.4(DSP):c.928dup (p.Glu310fs)
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rs794728137
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NM_004415.4(DSP):c.940-2del
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rs2113670901
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NM_004415.4(DSP):c.967G>C (p.Glu323Gln)
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rs1057522287
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