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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NC_000006.11:g.(?_7552967)_(7579627_?)del
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|
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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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|
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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.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.597+1G>A
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rs2113660108
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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.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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