GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1
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NC_000015.10:g.(?_25339117)_(25409127_?)del
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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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NM_000462.3(UBE3A):c.2365delG
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rs2074511604
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NM_130838.1(UBE3A):c.-44_*1888del
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NM_130839.5(UBE3A):c.*80_*83dup
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rs2152505917
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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.1021C>T (p.Gln341Ter)
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rs587781191
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NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter)
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rs587784534
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NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs)
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rs587781192
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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.1127dup (p.Tyr376Ter)
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rs587781193
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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.1136dup (p.Asn379fs)
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rs587781194
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NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter)
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rs587784508
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NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs)
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rs587784509
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NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter)
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rs587781195
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NM_130839.5(UBE3A):c.119G>T (p.Gly40Val)
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rs864309506
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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.1261C>T (p.Arg421Ter)
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rs587781196
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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.1330G>T (p.Glu444Ter)
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rs587781197
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NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter)
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rs587781198
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NM_130839.5(UBE3A):c.1402del (p.Thr468fs)
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rs2080191422
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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.1415dup (p.Ser473fs)
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rs587781199
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NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs)
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rs587781200
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NM_130839.5(UBE3A):c.1425_1439del (p.Met475_Phe479del)
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rs587780585
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NM_130839.5(UBE3A):c.1428dup (p.Cys477fs)
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NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter)
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rs587781201
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NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu)
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rs587780584
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NM_130839.5(UBE3A):c.1447del (p.Ala483fs)
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rs587781202
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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.1521_1528del (p.Tyr508fs)
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rs587784513
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NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs)
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rs587781203
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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.1597dup (p.Ala533fs)
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rs587781204
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NM_130839.5(UBE3A):c.159del (p.Cys54fs)
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rs587780565
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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.1609-8A>G
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rs2077891986
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NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs)
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NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter)
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rs587784514
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NM_130839.5(UBE3A):c.1631dup (p.Asn544fs)
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rs587781205
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NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter)
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rs587784515
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NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter)
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rs587781206
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NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg)
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rs587781233
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NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs)
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rs587781207
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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.1754-2A>G
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rs587780579
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NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs)
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rs587784519
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NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter)
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rs587781208
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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.1810G>C (p.Glu604Gln)
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rs587781235
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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.1871_1872del (p.Cys624fs)
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rs864309508
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NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs)
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rs587781209
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NM_130839.5(UBE3A):c.1920dup (p.Lys641fs)
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NM_130839.5(UBE3A):c.1960G>C (p.Val654Leu)
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rs2152694181
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NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs)
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rs587781210
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NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs)
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rs587781211
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NM_130839.5(UBE3A):c.2017dup (p.Met673fs)
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rs587781212
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NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile)
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rs587781236
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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.2032del (p.Gln678fs)
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rs587781214
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NM_130839.5(UBE3A):c.2125-2A>C
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rs587780580
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NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys)
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rs587781237
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NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs)
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rs587781215
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NM_130839.5(UBE3A):c.2162_2166dup (p.Val723fs)
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rs2152684235
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NM_130839.5(UBE3A):c.2230_2231dup (p.Tyr745fs)
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NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter)
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rs587781216
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NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter)
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rs587781217
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NM_130839.5(UBE3A):c.2238dup (p.Phe747fs)
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rs797046085
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NM_130839.5(UBE3A):c.2246del (p.Pro749fs)
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rs587781218
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NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter)
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rs587781219
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NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter)
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rs587781220
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NM_130839.5(UBE3A):c.2305del (p.Glu769fs)
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rs587781221
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NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs)
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rs587781222
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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.2349dup (p.Ile784fs)
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rs587781223
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NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)
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rs111033595
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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.2397_2400dup (p.Leu801fs)
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rs797046086
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NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs)
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rs587781224
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NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter)
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rs2074504404
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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.2458_2461dup (p.Lys821fs)
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NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del)
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rs587781238
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NM_130839.5(UBE3A):c.2498+1G>A
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rs2152514807
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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.2523_2566dup (p.Lys856fs)
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rs587781230
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NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer)
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rs1555379745
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NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter)
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rs587781226
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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.2538del (p.Pro847fs)
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rs587781227
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NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)
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rs587781239
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NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His)
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rs587784526
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NM_130839.5(UBE3A):c.2545_2560dup (p.Lys854fs)
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NM_130839.5(UBE3A):c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu)
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rs587781240
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NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs)
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rs1555379684
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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.2553_2569del (p.Ser851fs)
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rs1057519062
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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.2562dup (p.Leu855fs)
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rs797046087
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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_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.259_262dup (p.Gly88fs)
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rs587780566
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NM_130839.5(UBE3A):c.2607dup (p.Gly870fs)
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rs797046088
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NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?)
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rs587781232
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NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu)
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rs76794400
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NM_130839.5(UBE3A):c.323_324del (p.Ile108fs)
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rs587780567
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NM_130839.5(UBE3A):c.335dup (p.Lys113fs)
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rs587780568
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NM_130839.5(UBE3A):c.337_340del (p.Lys113fs)
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rs587780569
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NM_130839.5(UBE3A):c.362-2A>T
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rs587780578
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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.376A>C (p.Thr126Pro)
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rs111033596
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NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)
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rs587781241
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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.440del (p.Ile147fs)
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rs587784530
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NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr)
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rs111033597
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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.565_571del (p.Glu189fs)
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rs587784532
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NM_130839.5(UBE3A):c.607del (p.Asp203fs)
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rs587780573
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NM_130839.5(UBE3A):c.613_614del (p.Glu205fs)
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NM_130839.5(UBE3A):c.62+1_62+2insAA
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rs797046084
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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.62T>C (p.Met21Thr)
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rs587780577
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NM_130839.5(UBE3A):c.640dup (p.Ser214fs)
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rs587780574
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NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer)
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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.695A>T (p.Asp232Val)
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rs587780581
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NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter)
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rs587780575
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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.777T>A (p.Tyr259Ter)
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rs587780576
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NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter)
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NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter)
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rs587781190
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NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter)
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rs997044541
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NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp)
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rs587780583
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NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter)
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rs587784533
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NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)
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