NC_000015.10:g.(?_24566038)_(25781223_?)del
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NC_000015.10:g.(?_25339117)_(25409127_?)del
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NC_000015.10:g.(?_25339137)_(25405462_?)dup
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NC_000015.10:g.(?_25354333)_(25360547_?)del
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NC_000015.10:g.(?_25360363)_(25360547_?)del
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NC_000015.10:g.(?_25375445)_(25375783_?)del
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NC_000015.10:g.25375764del
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NC_000015.9:g.(?_25584264)_(25654274_?)dup
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NC_000015.9:g.(?_25584273)_(25650609_?)del
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NC_000015.9:g.(?_25584273)_(25650609_?)dup
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NC_000015.9:g.(?_25584284)_(25585395_?)del
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NC_000015.9:g.(?_25615693)_(25650609_?)del
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NC_000023.10:g.(?_153287264)_(153363188_?)dup
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NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)
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rs267608426
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NM_130838.1(UBE3A):c.-44_*1888del
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NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter)
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rs2080245178
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NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter)
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rs2080238010
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NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter)
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rs2080231132
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NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
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NM_130839.5(UBE3A):c.1322del (p.Ile441fs)
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rs1595804239
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NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs)
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rs587784512
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NM_130839.5(UBE3A):c.1428dup (p.Cys477fs)
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NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)
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rs863225068
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NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)
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rs1555399937
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NM_130839.5(UBE3A):c.1600del (p.Val535fs)
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rs1566954070
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NM_130839.5(UBE3A):c.171del (p.Leu58fs)
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rs2152848314
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NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)
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rs587781234
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NM_130839.5(UBE3A):c.1920dup (p.Lys641fs)
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NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter)
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rs587781213
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NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs)
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rs2076939980
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NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs)
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rs2074508602
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NM_130839.5(UBE3A):c.2385del (p.Asp796fs)
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rs2152515439
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NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs)
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rs1595375630
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NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs)
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rs587781225
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NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs)
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rs587781225
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NM_130839.5(UBE3A):c.2498+2T>C
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rs2152514800
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NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs)
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rs2152507134
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NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs)
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rs1064792950
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NM_130839.5(UBE3A):c.2545_2560dup (p.Lys854fs)
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NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter)
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rs587781228
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NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs)
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rs587781229
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NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs)
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rs398124440
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NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs)
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rs1555379800
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NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)
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rs863225070
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NM_130839.5(UBE3A):c.2565_2584dup (p.Ala862delinsValLysArgAspCysTer)
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NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs)
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rs587781231
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NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
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NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer)
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rs587780570
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NM_130839.5(UBE3A):c.377_381del (p.Thr126fs)
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rs587784529
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NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter)
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rs2152823877
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NM_130839.5(UBE3A):c.422_423del (p.Glu141fs)
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rs587780571
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NM_130839.5(UBE3A):c.613_614del (p.Glu205fs)
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NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer)
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NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro)
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rs587780582
|
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NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)
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