NM_130838.2(UBE3A):c.[255_259del;269del]
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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.1187_1188insAG (p.Pro397fs)
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NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter)
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rs1555400239
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NM_130839.5(UBE3A):c.1219C>T (p.Gln407Ter)
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NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter)
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rs886043612
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NM_130839.5(UBE3A):c.1241_1247del (p.Arg414fs)
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rs886041283
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NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs)
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rs886041603
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NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter)
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rs587781196
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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.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.153_154dup (p.Ala52fs)
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rs886041451
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NM_130839.5(UBE3A):c.1541dup (p.Gln515fs)
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rs1064796224
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NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)
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rs1064793307
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NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs)
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rs398124438
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NM_130839.5(UBE3A):c.1608+1G>A
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rs1555399890
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NM_130839.5(UBE3A):c.1609-8A>G
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rs2077891986
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NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del)
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rs1064796545
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NM_130839.5(UBE3A):c.1754-2A>C
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rs587780579
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NM_130839.5(UBE3A):c.1789dup (p.Trp597fs)
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rs1595601899
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NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs)
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rs794727738
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NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs)
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rs587784520
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NM_130839.5(UBE3A):c.1953_1954del (p.His652fs)
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rs886039516
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NM_130839.5(UBE3A):c.1969C>T (p.Gln657Ter)
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rs2077173386
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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.2049dup (p.Leu684fs)
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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.2433_2434del (p.Arg811fs)
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rs886039476
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NM_130839.5(UBE3A):c.2469dup (p.Ile824fs)
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rs886041289
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NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs)
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rs2074302214
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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_2566dup (p.Lys856delinsThrTer)
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rs398124440
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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.2567_2568dup (p.Glu857fs)
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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.2567_2570dup (p.Leu859fs)
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rs587784527
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NM_130839.5(UBE3A):c.2571_2574del (p.Glu857fs)
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rs886041252
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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.393del (p.Val130_Tyr131insTer)
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rs1595816114
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NM_130839.5(UBE3A):c.463dup (p.Ser155fs)
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rs587780572
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NM_130839.5(UBE3A):c.517del (p.Glu173fs)
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rs1131691801
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NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter)
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rs2080305309
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NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs)
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rs786200996
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NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter)
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rs1566961418
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NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter)
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rs1490279918
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NM_130839.5(UBE3A):c.720C>A (p.Tyr240Ter)
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rs755078197
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NM_130839.5(UBE3A):c.827del (p.Arg276fs)
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rs886039448
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