NM_130839.5(UBE3A):c.-164-178_-164-177dup
|
rs137888437
|
0.04004
|
NM_130839.5(UBE3A):c.-164-5870T>G
|
rs76369560
|
0.01402
|
NM_130839.5(UBE3A):c.1754-271A>G
|
rs75606291
|
0.01175
|
NM_130839.5(UBE3A):c.362-115C>T
|
rs116216054
|
0.00962
|
NM_130839.5(UBE3A):c.-100-312C>T
|
rs185254524
|
0.00920
|
NM_130839.5(UBE3A):c.1754-161G>C
|
rs8023329
|
0.00909
|
NM_130839.5(UBE3A):c.2354+164C>T
|
rs112494329
|
0.00873
|
NM_130839.5(UBE3A):c.20+545G>A
|
rs115841099
|
0.00580
|
NM_130839.5(UBE3A):c.1608+304C>G
|
rs117769430
|
0.00566
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
NM_130839.5(UBE3A):c.2499-34del
|
rs564915971
|
0.00204
|
NM_130839.5(UBE3A):c.*199A>G
|
rs182421497
|
0.00179
|
NM_130839.5(UBE3A):c.-100-195A>G
|
rs762874140
|
0.00165
|
NM_130839.5(UBE3A):c.618A>T (p.Ala206=)
|
rs143484751
|
0.00121
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_130839.5(UBE3A):c.1753+1121C>A
|
rs757526251
|
0.00097
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_130839.5(UBE3A):c.927G>A (p.Ala309=)
|
rs576963061
|
0.00013
|
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)
|
rs371154816
|
0.00009
|
NM_130839.5(UBE3A):c.2281-20A>G
|
rs376920758
|
0.00009
|
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
NM_130839.5(UBE3A):c.986A>G (p.Asn329Ser)
|
rs556829175
|
0.00009
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
NM_130839.5(UBE3A):c.2592G>A (p.Thr864=)
|
rs377110924
|
0.00007
|
NM_130839.5(UBE3A):c.1228T>C (p.Leu410=)
|
rs143310195
|
0.00006
|
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=)
|
rs759095902
|
0.00006
|
NM_130839.5(UBE3A):c.342C>T (p.Gly114=)
|
rs142726511
|
0.00006
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00004
|
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=)
|
rs776564692
|
0.00004
|
NM_130839.5(UBE3A):c.1596T>C (p.Asp532=)
|
rs748426530
|
0.00004
|
NM_130839.5(UBE3A):c.1728G>A (p.Val576=)
|
rs749731066
|
0.00004
|
NM_130839.5(UBE3A):c.1753+8C>T
|
rs1356350246
|
0.00004
|
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=)
|
rs760397761
|
0.00004
|
NM_130839.5(UBE3A):c.2281-9A>G
|
rs978341458
|
0.00004
|
NM_130839.5(UBE3A):c.*4A>G
|
rs755581358
|
0.00003
|
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=)
|
rs755119609
|
0.00003
|
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=)
|
rs1057520481
|
0.00003
|
NM_130839.5(UBE3A):c.1959+11T>A
|
rs771390878
|
0.00003
|
NM_130839.5(UBE3A):c.2247A>G (p.Pro749=)
|
rs753988917
|
0.00003
|
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)
|
rs587782910
|
0.00003
|
NM_130839.5(UBE3A):c.291G>A (p.Ser97=)
|
rs1411368065
|
0.00003
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
NM_130839.5(UBE3A):c.789C>T (p.Asn263=)
|
rs1453409055
|
0.00003
|
NM_130839.5(UBE3A):c.87A>G (p.Leu29=)
|
rs771985048
|
0.00003
|
NM_130839.5(UBE3A):c.1273C>T (p.Leu425=)
|
rs778060771
|
0.00002
|
NM_130839.5(UBE3A):c.141G>A (p.Thr47=)
|
rs760283316
|
0.00002
|
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=)
|
rs370142725
|
0.00002
|
NM_130839.5(UBE3A):c.2065A>G (p.Met689Val)
|
rs755765955
|
0.00002
|
NM_130839.5(UBE3A):c.222G>A (p.Lys74=)
|
rs759225128
|
0.00002
|
NM_130839.5(UBE3A):c.2499-10C>T
|
rs776735747
|
0.00002
|
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly)
|
rs587783100
|
0.00002
|
NM_130839.5(UBE3A):c.1134A>G (p.Ala378=)
|
rs1055822466
|
0.00001
|
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=)
|
rs1057520392
|
0.00001
|
NM_130839.5(UBE3A):c.1305T>C (p.Asp435=)
|
rs587783102
|
0.00001
|
NM_130839.5(UBE3A):c.1609-10C>T
|
rs1490784858
|
0.00001
|
NM_130839.5(UBE3A):c.1754-3T>C
|
rs1398256620
|
0.00001
|
NM_130839.5(UBE3A):c.1754-4A>G
|
rs780429591
|
0.00001
|
NM_130839.5(UBE3A):c.176G>A (p.Arg59His)
|
rs587784511
|
0.00001
|
NM_130839.5(UBE3A):c.1809T>C (p.Phe603=)
|
rs766144091
|
0.00001
|
NM_130839.5(UBE3A):c.1876C>T (p.Leu626=)
|
rs376089007
|
0.00001
|
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=)
|
rs587784522
|
0.00001
|
NM_130839.5(UBE3A):c.189T>C (p.Asn63=)
|
rs1378900021
|
0.00001
|
NM_130839.5(UBE3A):c.1936C>T (p.Arg646Cys)
|
rs746286431
|
0.00001
|
NM_130839.5(UBE3A):c.1959+15A>G
|
rs1444735197
|
0.00001
|
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)
|
rs371296838
|
0.00001
|
NM_130839.5(UBE3A):c.20+465G>A
|
rs765727905
|
0.00001
|
NM_130839.5(UBE3A):c.210C>T (p.Leu70=)
|
rs752310016
|
0.00001
|
NM_130839.5(UBE3A):c.2124+13T>G
|
rs1477029660
|
0.00001
|
NM_130839.5(UBE3A):c.2124+8A>G
|
rs1057522487
|
0.00001
|
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile)
|
rs587784524
|
0.00001
|
NM_130839.5(UBE3A):c.2163A>G (p.Lys721=)
|
rs992268686
|
0.00001
|
NM_130839.5(UBE3A):c.21A>G (p.Arg7=)
|
rs752810430
|
0.00001
|
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr)
|
rs1312971608
|
0.00001
|
NM_130839.5(UBE3A):c.2280+17C>T
|
rs767903684
|
0.00001
|
NM_130839.5(UBE3A):c.2281-12T>C
|
rs1297457627
|
0.00001
|
NM_130839.5(UBE3A):c.2354+13del
|
rs1566887115
|
0.00001
|
NM_130839.5(UBE3A):c.2354+16C>T
|
rs1464903824
|
0.00001
|
NM_130839.5(UBE3A):c.2355-6_2355-5insTAAT
|
rs1555380917
|
0.00001
|
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=)
|
rs767254317
|
0.00001
|
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)
|
rs587780991
|
0.00001
|
NM_130839.5(UBE3A):c.2499-6A>G
|
rs925559099
|
0.00001
|
NM_130839.5(UBE3A):c.361+16T>A
|
rs1285482314
|
0.00001
|
NM_130839.5(UBE3A):c.507A>G (p.Gln169=)
|
rs1555401033
|
0.00001
|
NM_130839.5(UBE3A):c.660T>C (p.Asn220=)
|
rs201667751
|
0.00001
|
NM_130839.5(UBE3A):c.705C>G (p.Ala235=)
|
rs149824737
|
0.00001
|
NM_130839.5(UBE3A):c.744A>G (p.Lys248=)
|
rs367996463
|
0.00001
|
NM_130839.5(UBE3A):c.768A>G (p.Ala256=)
|
rs762172890
|
0.00001
|
NM_130839.5(UBE3A):c.819A>G (p.Val273=)
|
rs370294710
|
0.00001
|
NM_130839.5(UBE3A):c.81G>A (p.Lys27=)
|
rs937023999
|
0.00001
|
NM_130839.5(UBE3A):c.828A>G (p.Arg276=)
|
rs1467881884
|
0.00001
|
NM_130839.5(UBE3A):c.858C>T (p.Ile286=)
|
rs61740972
|
0.00001
|
NM_130839.5(UBE3A):c.861A>G (p.Val287=)
|
rs1341061203
|
0.00001
|
NM_130839.5(UBE3A):c.939A>G (p.Leu313=)
|
rs762154663
|
0.00001
|
NM_130839.5(UBE3A):c.961C>T (p.Leu321=)
|
rs1385870007
|
0.00001
|
NM_130839.5(UBE3A):c.*12del
|
rs745340054
|
|
NM_130839.5(UBE3A):c.*22_*35del
|
rs573271880
|
|
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=)
|
rs587782926
|
|
NM_130839.5(UBE3A):c.*3_*17del (p.Ter873=)
|
rs587782926
|
|
NM_130839.5(UBE3A):c.-164-969dup
|
rs202014453
|
|
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=)
|
rs1595808837
|
|
NM_130839.5(UBE3A):c.1014G>A (p.Glu338=)
|
rs779092156
|
|
NM_130839.5(UBE3A):c.1026A>G (p.Gln342=)
|
|
|
NM_130839.5(UBE3A):c.1059T>C (p.Phe353=)
|
|
|
NM_130839.5(UBE3A):c.1065T>C (p.Ser355=)
|
|
|
NM_130839.5(UBE3A):c.1086T>C (p.Asp362=)
|
rs375600705
|
|
NM_130839.5(UBE3A):c.108G>A (p.Gln36=)
|
rs926999742
|
|
NM_130839.5(UBE3A):c.1107G>A (p.Ser369=)
|
|
|
NM_130839.5(UBE3A):c.1161A>G (p.Thr387=)
|
|
|
NM_130839.5(UBE3A):c.1161A>T (p.Thr387=)
|
rs753078220
|
|
NM_130839.5(UBE3A):c.1188G>A (p.Glu396=)
|
|
|
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=)
|
rs774072376
|
|
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=)
|
rs1460036615
|
|
NM_130839.5(UBE3A):c.1224A>C (p.Glu408Asp)
|
rs769775137
|
|
NM_130839.5(UBE3A):c.1248C>T (p.Asn416=)
|
rs2152820982
|
|
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=)
|
rs1555400103
|
|
NM_130839.5(UBE3A):c.1347A>G (p.Glu449=)
|
rs2152820597
|
|
NM_130839.5(UBE3A):c.1383T>C (p.Tyr461=)
|
|
|
NM_130839.5(UBE3A):c.1398A>G (p.Val466=)
|
|
|
NM_130839.5(UBE3A):c.1401A>G (p.Glu467=)
|
|
|
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=)
|
rs138049263
|
|
NM_130839.5(UBE3A):c.1461T>C (p.Asn487=)
|
|
|
NM_130839.5(UBE3A):c.1497C>T (p.Tyr499=)
|
|
|
NM_130839.5(UBE3A):c.1509A>G (p.Arg503=)
|
|
|
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=)
|
rs878855201
|
|
NM_130839.5(UBE3A):c.1527C>T (p.Ser509=)
|
|
|
NM_130839.5(UBE3A):c.1539A>G (p.Gly513=)
|
rs2152820058
|
|
NM_130839.5(UBE3A):c.153T>C (p.Cys51=)
|
|
|
NM_130839.5(UBE3A):c.1546T>C (p.Leu516=)
|
rs2152820037
|
|
NM_130839.5(UBE3A):c.1554A>C (p.Pro518=)
|
|
|
NM_130839.5(UBE3A):c.1566C>T (p.Leu522=)
|
rs2152820006
|
|
NM_130839.5(UBE3A):c.1599A>G (p.Ala533=)
|
rs1447040234
|
|
NM_130839.5(UBE3A):c.159C>G (p.Ser53=)
|
|
|
NM_130839.5(UBE3A):c.159C>T (p.Ser53=)
|
|
|
NM_130839.5(UBE3A):c.1609-11T>C
|
rs1555393315
|
|
NM_130839.5(UBE3A):c.1609-20dup
|
rs779671805
|
|
NM_130839.5(UBE3A):c.1609-57dup
|
rs369867124
|
|
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)
|
rs1057523671
|
|
NM_130839.5(UBE3A):c.1710A>G (p.Glu570=)
|
|
|
NM_130839.5(UBE3A):c.1719G>A (p.Gln573=)
|
rs1303052197
|
|
NM_130839.5(UBE3A):c.1753+11T>G
|
|
|
NM_130839.5(UBE3A):c.1753+15A>G
|
|
|
NM_130839.5(UBE3A):c.1753+20del
|
rs1161685208
|
|
NM_130839.5(UBE3A):c.1764A>T (p.Thr588=)
|
rs770078054
|
|
NM_130839.5(UBE3A):c.1770T>C (p.Asp590=)
|
rs781556374
|
|
NM_130839.5(UBE3A):c.1800A>G (p.Pro600=)
|
rs754664908
|
|
NM_130839.5(UBE3A):c.1815T>C (p.Thr605=)
|
|
|
NM_130839.5(UBE3A):c.1830T>C (p.Thr610=)
|
rs2152700872
|
|
NM_130839.5(UBE3A):c.1836T>C (p.Ile612=)
|
rs1595601233
|
|
NM_130839.5(UBE3A):c.1860T>A (p.Ile620=)
|
rs2152700765
|
|
NM_130839.5(UBE3A):c.1884A>C (p.Val628=)
|
rs774618110
|
|
NM_130839.5(UBE3A):c.1914A>G (p.Leu638=)
|
|
|
NM_130839.5(UBE3A):c.1959+14C>T
|
|
|
NM_130839.5(UBE3A):c.1959+8_1959+11del
|
|
|
NM_130839.5(UBE3A):c.1959+8del
|
|
|
NM_130839.5(UBE3A):c.1960-18A>G
|
|
|
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=)
|
|
|
NM_130839.5(UBE3A):c.1992G>A (p.Glu664=)
|
|
|
NM_130839.5(UBE3A):c.20+463T>C
|
|
|
NM_130839.5(UBE3A):c.2001G>A (p.Gly667=)
|
|
|
NM_130839.5(UBE3A):c.2016C>T (p.Asp672=)
|
|
|
NM_130839.5(UBE3A):c.2055T>C (p.Phe685=)
|
|
|
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp)
|
rs587784523
|
|
NM_130839.5(UBE3A):c.21-10C>T
|
|
|
NM_130839.5(UBE3A):c.2124+10G>A
|
rs1595589409
|
|
NM_130839.5(UBE3A):c.2124+14T>C
|
|
|
NM_130839.5(UBE3A):c.2124+19T>G
|
rs587782925
|
|
NM_130839.5(UBE3A):c.2124+9_2124+10insTT
|
rs2077158910
|
|
NM_130839.5(UBE3A):c.2125-11G>A
|
|
|
NM_130839.5(UBE3A):c.2125-20G>A
|
rs2152684554
|
|
NM_130839.5(UBE3A):c.2125-4A>G
|
|
|
NM_130839.5(UBE3A):c.2125-96_2125-94del
|
rs562275288
|
|
NM_130839.5(UBE3A):c.2145T>C (p.Ser715=)
|
rs2152684375
|
|
NM_130839.5(UBE3A):c.2169A>G (p.Val723=)
|
|
|
NM_130839.5(UBE3A):c.2205T>C (p.His735=)
|
|
|
NM_130839.5(UBE3A):c.2226C>G (p.Pro742=)
|
rs1555389825
|
|
NM_130839.5(UBE3A):c.2268A>C (p.Ile756=)
|
|
|
NM_130839.5(UBE3A):c.2280+14dup
|
|
|
NM_130839.5(UBE3A):c.2280+18T>G
|
rs200901786
|
|
NM_130839.5(UBE3A):c.2280G>C (p.Arg760=)
|
rs587784525
|
|
NM_130839.5(UBE3A):c.2281-15T>C
|
rs767720713
|
|
NM_130839.5(UBE3A):c.2295A>G (p.Gln765=)
|
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NM_130839.5(UBE3A):c.2301A>G (p.Leu767=)
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NM_130839.5(UBE3A):c.2313A>G (p.Thr771=)
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rs2152682737
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NM_130839.5(UBE3A):c.2328C>A (p.Gly776=)
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NM_130839.5(UBE3A):c.2343T>C (p.Ser781=)
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NM_130839.5(UBE3A):c.2352T>C (p.Ile784=)
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NM_130839.5(UBE3A):c.2354+10T>C
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rs1555389575
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NM_130839.5(UBE3A):c.2354+12A>G
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rs748038950
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NM_130839.5(UBE3A):c.2354+7T>A
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NM_130839.5(UBE3A):c.2376T>C (p.His792=)
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rs2152515457
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NM_130839.5(UBE3A):c.2388T>C (p.Asp796=)
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NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)
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rs374519603
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NM_130839.5(UBE3A):c.2421G>A (p.Thr807=)
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rs1239525577
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NM_130839.5(UBE3A):c.2430C>T (p.Asp810=)
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rs1566825584
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NM_130839.5(UBE3A):c.2442G>A (p.Val814=)
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rs1595375310
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NM_130839.5(UBE3A):c.2498+19G>C
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NM_130839.5(UBE3A):c.2499-12T>C
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NM_130839.5(UBE3A):c.2499-14T>G
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NM_130839.5(UBE3A):c.2499-5_2499-2del
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rs1555379927
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NM_130839.5(UBE3A):c.2508A>C (p.Thr836=)
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rs1028493022
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NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=)
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NM_130839.5(UBE3A):c.2575T>C (p.Leu859=)
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NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
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NM_130839.5(UBE3A):c.2592G>C (p.Thr864=)
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NM_130839.5(UBE3A):c.2598C>T (p.Ala866=)
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rs748580495
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NM_130839.5(UBE3A):c.2604A>T (p.Gly868=)
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rs965417906
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NM_130839.5(UBE3A):c.2614C>T (p.Leu872=)
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rs2152506657
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NM_130839.5(UBE3A):c.270C>T (p.Ser90=)
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rs2152848022
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NM_130839.5(UBE3A):c.303C>T (p.Pro101=)
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rs2152847825
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NM_130839.5(UBE3A):c.328A>G (p.Met110Val)
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rs369853017
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NM_130839.5(UBE3A):c.339A>G (p.Lys113=)
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NM_130839.5(UBE3A):c.342C>A (p.Gly114=)
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rs142726511
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NM_130839.5(UBE3A):c.345T>G (p.Ala115=)
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rs1308187741
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NM_130839.5(UBE3A):c.361+14T>C
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NM_130839.5(UBE3A):c.361+18C>G
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rs773112531
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NM_130839.5(UBE3A):c.362-10G>A
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NM_130839.5(UBE3A):c.362-10G>T
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rs1407383738
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NM_130839.5(UBE3A):c.362-11dup
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NM_130839.5(UBE3A):c.362-13T>C
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NM_130839.5(UBE3A):c.387G>A (p.Lys129=)
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NM_130839.5(UBE3A):c.390A>G (p.Val130=)
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NM_130839.5(UBE3A):c.402T>A (p.Leu134=)
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NM_130839.5(UBE3A):c.406T>C (p.Leu136=)
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rs1566962877
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NM_130839.5(UBE3A):c.435T>C (p.Pro145=)
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NM_130839.5(UBE3A):c.43G>A (p.Asp15Asn)
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NM_130839.5(UBE3A):c.444T>G (p.Arg148=)
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rs1860879871
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NM_130839.5(UBE3A):c.459T>C (p.Val153=)
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NM_130839.5(UBE3A):c.459T>G (p.Val153=)
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rs1566962536
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NM_130839.5(UBE3A):c.477A>G (p.Ala159=)
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rs28528079
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NM_130839.5(UBE3A):c.558T>C (p.Asp186=)
|
rs1595814554
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NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506
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NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser)
|
rs147145506
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NM_130839.5(UBE3A):c.603A>G (p.Glu201=)
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NM_130839.5(UBE3A):c.618A>G (p.Ala206=)
|
rs143484751
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NM_130839.5(UBE3A):c.62+14G>C
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NM_130839.5(UBE3A):c.62+20G>A
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rs587782906
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NM_130839.5(UBE3A):c.62+7G>A
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rs1440979314
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NM_130839.5(UBE3A):c.62+9A>G
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rs2153049609
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NM_130839.5(UBE3A):c.624C>T (p.Ser208=)
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NM_130839.5(UBE3A):c.63-19_63-17del
|
rs587782921
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NM_130839.5(UBE3A):c.63-4A>G
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NM_130839.5(UBE3A):c.645A>C (p.Ser215=)
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NM_130839.5(UBE3A):c.651A>G (p.Gly217=)
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NM_130839.5(UBE3A):c.654C>T (p.Asp218=)
|
rs1057523244
|
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NM_130839.5(UBE3A):c.684T>C (p.Asp228=)
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NM_130839.5(UBE3A):c.696T>C (p.Asp232=)
|
rs1057523332
|
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NM_130839.5(UBE3A):c.699T>C (p.Ile233=)
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NM_130839.5(UBE3A):c.732C>T (p.Leu244=)
|
rs1060504406
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NM_130839.5(UBE3A):c.807G>A (p.Thr269=)
|
rs2080268979
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NM_130839.5(UBE3A):c.834T>C (p.Pro278=)
|
rs2152822349
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NM_130839.5(UBE3A):c.867G>A (p.Glu289=)
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NM_130839.5(UBE3A):c.873A>G (p.Arg291=)
|
rs1213980033
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NM_130839.5(UBE3A):c.927G>T (p.Ala309=)
|
rs576963061
|
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NM_130839.5(UBE3A):c.936G>A (p.Lys312=)
|
rs867585000
|
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NM_130839.5(UBE3A):c.954A>G (p.Gln318=)
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NM_130839.5(UBE3A):c.963G>A (p.Leu321=)
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NM_130839.5(UBE3A):c.981A>G (p.Lys327=)
|
rs1555400511
|
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NM_130839.5(UBE3A):c.984C>T (p.Tyr328=)
|
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