NG_012383.3:g.(70130_86397)_(87002_255549)del
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NG_012383.3:g.(70130_86397)_(87002_255549)dup
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NG_012383.3:g.(87002_255549)_(259980_?)del
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NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del
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NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs)
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rs1554596430
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NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)
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rs1554596393
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NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter)
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rs1554596391
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NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)
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rs1554596328
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NM_014112.5(TRPS1):c.1231dup (p.Gln411fs)
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rs1554596300
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NM_014112.5(TRPS1):c.1460del (p.Lys487fs)
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rs1554596193
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NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
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rs886040971
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NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)
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rs121908431
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NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)
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rs1554595930
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NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter)
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rs1554595857
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NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs)
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rs1554593099
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NM_014112.5(TRPS1):c.2355_2356del (p.Lys786fs)
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rs1554592995
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NM_014112.5(TRPS1):c.2394dup (p.Ser799fs)
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rs1554592981
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NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)
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rs121908432
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NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr)
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rs1554617581
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NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)
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rs1554617580
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NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)
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rs1554617573
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NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)
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rs751565386
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NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)
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rs121908435
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NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro)
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rs121908435
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NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs)
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rs1554617567
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NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)
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rs1057518972
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NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)
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rs121908436
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NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val)
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rs1554617561
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NM_014112.5(TRPS1):c.2823+1G>T
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rs1554617549
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NM_014112.5(TRPS1):c.2824-23T>G
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rs752405769
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NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs)
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rs1554617078
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NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)
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rs28939069
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NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)
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rs28939070
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NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs)
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rs1554617011
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NM_014112.5(TRPS1):c.3077del (p.Ser1026fs)
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rs1554616971
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NM_014112.5(TRPS1):c.3140del (p.Pro1047fs)
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rs1554616950
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NM_014112.5(TRPS1):c.3424del (p.Ser1142fs)
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rs1554616802
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inv(8)(q13q24.1)
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inv(8)(q21.1q24.1)
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