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.1052A>G (p.Asn351Ser)
|
rs747932207
|
0.00005
|
NM_130839.5(UBE3A):c.1153G>A (p.Val385Met)
|
rs763388142
|
0.00005
|
NM_130839.5(UBE3A):c.647A>C (p.Gln216Pro)
|
rs144950303
|
0.00005
|
NM_130839.5(UBE3A):c.1006A>C (p.Met336Leu)
|
rs372526793
|
0.00004
|
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser)
|
rs147446244
|
0.00004
|
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val)
|
rs1260300451
|
0.00003
|
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)
|
rs587782910
|
0.00003
|
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=)
|
rs587783103
|
0.00003
|
NM_130839.5(UBE3A):c.295G>T (p.Gly99Cys)
|
rs774533700
|
0.00003
|
NM_130839.5(UBE3A):c.305A>G (p.Asn102Ser)
|
rs201577750
|
0.00003
|
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser)
|
rs752711811
|
0.00003
|
NM_130839.5(UBE3A):c.1067G>A (p.Arg356Gln)
|
rs780050034
|
0.00002
|
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu)
|
rs200380619
|
0.00002
|
NM_130839.5(UBE3A):c.2114A>G (p.Glu705Gly)
|
rs764195093
|
0.00002
|
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser)
|
rs916720140
|
0.00002
|
NM_130839.5(UBE3A):c.299C>T (p.Ala100Val)
|
rs587783099
|
0.00002
|
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly)
|
rs587783100
|
0.00002
|
NM_130839.5(UBE3A):c.511A>T (p.Thr171Ser)
|
rs140245963
|
0.00002
|
NM_130839.5(UBE3A):c.733T>G (p.Ser245Ala)
|
rs760844102
|
0.00002
|
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu)
|
rs368318081
|
0.00001
|
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile)
|
rs751838524
|
0.00001
|
NM_130839.5(UBE3A):c.1165C>A (p.His389Asn)
|
rs928551764
|
0.00001
|
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp)
|
rs587784510
|
0.00001
|
NM_130839.5(UBE3A):c.1310G>A (p.Arg437Gln)
|
rs765813410
|
0.00001
|
NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg)
|
rs1384754256
|
0.00001
|
NM_130839.5(UBE3A):c.1607G>A (p.Arg536Gln)
|
rs779375881
|
0.00001
|
NM_130839.5(UBE3A):c.1754-3T>C
|
rs1398256620
|
0.00001
|
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys)
|
rs587783098
|
0.00001
|
NM_130839.5(UBE3A):c.1936C>A (p.Arg646Ser)
|
rs746286431
|
0.00001
|
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg)
|
rs747626553
|
0.00001
|
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val)
|
rs751477028
|
0.00001
|
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile)
|
rs587784524
|
0.00001
|
NM_130839.5(UBE3A):c.2216A>G (p.Asn739Ser)
|
rs778808533
|
0.00001
|
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr)
|
rs1312971608
|
0.00001
|
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His)
|
rs1057520393
|
0.00001
|
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met)
|
rs587783148
|
0.00001
|
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu)
|
rs772110423
|
0.00001
|
NM_130839.5(UBE3A):c.330G>C (p.Met110Ile)
|
rs781537729
|
0.00001
|
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys)
|
rs753429030
|
0.00001
|
NM_130839.5(UBE3A):c.361+6A>G
|
rs200510893
|
0.00001
|
NM_130839.5(UBE3A):c.442C>T (p.Arg148Cys)
|
rs587783101
|
0.00001
|
NM_130839.5(UBE3A):c.457G>A (p.Val153Ile)
|
rs199636913
|
0.00001
|
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser)
|
rs1383474985
|
0.00001
|
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala)
|
rs777672019
|
0.00001
|
NM_130839.5(UBE3A):c.659A>G (p.Asn220Ser)
|
rs528422241
|
0.00001
|
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser)
|
rs587782922
|
0.00001
|
NM_130839.5(UBE3A):c.790G>A (p.Val264Met)
|
rs745363984
|
0.00001
|
NM_130839.5(UBE3A):c.826C>A (p.Arg276=)
|
rs997044541
|
0.00001
|
NC_000015.10:g.(?_25339117)_(25360547_?)dup
|
|
|
NC_000015.9:g.(?_25582396)_(25650653_?)dup
|
|
|
NC_000015.9:g.(?_25584264)_(25620930_?)dup
|
|
|
NC_000015.9:g.(?_25584284)_(25585395_?)dup
|
|
|
NC_000015.9:g.(?_25584284)_(25620930_?)dup
|
|
|
NM_130839.5(UBE3A):c.1000C>G (p.Arg334Gly)
|
|
|
NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln)
|
|
|
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr)
|
rs863225071
|
|
NM_130839.5(UBE3A):c.1060A>G (p.Asn354Asp)
|
rs1595808009
|
|
NM_130839.5(UBE3A):c.1122G>A (p.Met374Ile)
|
|
|
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly)
|
rs1219606975
|
|
NM_130839.5(UBE3A):c.1139T>C (p.Val380Ala)
|
|
|
NM_130839.5(UBE3A):c.1147G>A (p.Gly383Arg)
|
rs764318379
|
|
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu)
|
rs763388142
|
|
NM_130839.5(UBE3A):c.1154T>G (p.Val385Gly)
|
|
|
NM_130839.5(UBE3A):c.1157A>G (p.Asp386Gly)
|
rs779940531
|
|
NM_130839.5(UBE3A):c.1160C>T (p.Thr387Ile)
|
rs2152821323
|
|
NM_130839.5(UBE3A):c.1168A>G (p.Asn390Asp)
|
rs765910610
|
|
NM_130839.5(UBE3A):c.1173AGA[1] (p.Glu392del)
|
|
|
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu)
|
rs143000400
|
|
NM_130839.5(UBE3A):c.1184A>G (p.Glu395Gly)
|
|
|
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val)
|
rs200380619
|
|
NM_130839.5(UBE3A):c.1196C>G (p.Pro399Arg)
|
rs267604140
|
|
NM_130839.5(UBE3A):c.1199A>T (p.Glu400Val)
|
|
|
NM_130839.5(UBE3A):c.1236A>C (p.Glu412Asp)
|
|
|
NM_130839.5(UBE3A):c.1255G>A (p.Gly419Ser)
|
|
|
NM_130839.5(UBE3A):c.1285C>G (p.Leu429Val)
|
rs1263950376
|
|
NM_130839.5(UBE3A):c.1301T>G (p.Leu434Arg)
|
|
|
NM_130839.5(UBE3A):c.131A>C (p.Glu44Ala)
|
rs2081089937
|
|
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu)
|
rs2152820660
|
|
NM_130839.5(UBE3A):c.1344T>A (p.Asn448Lys)
|
|
|
NM_130839.5(UBE3A):c.1359G>C (p.Glu453Asp)
|
|
|
NM_130839.5(UBE3A):c.1363C>G (p.Leu455Val)
|
|
|
NM_130839.5(UBE3A):c.1388T>C (p.Phe463Ser)
|
|
|
NM_130839.5(UBE3A):c.1394A>G (p.Lys465Arg)
|
|
|
NM_130839.5(UBE3A):c.1435T>A (p.Phe479Ile)
|
|
|
NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr)
|
|
|
NM_130839.5(UBE3A):c.1477G>A (p.Asp493Asn)
|
rs2080181277
|
|
NM_130839.5(UBE3A):c.147G>T (p.Glu49Asp)
|
rs2081087498
|
|
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg)
|
|
|
NM_130839.5(UBE3A):c.1608+3A>T
|
|
|
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr)
|
rs1301123423
|
|
NM_130839.5(UBE3A):c.1625T>G (p.Met542Arg)
|
rs2152730267
|
|
NM_130839.5(UBE3A):c.1651C>A (p.Gln551Lys)
|
rs113932065
|
|
NM_130839.5(UBE3A):c.1678_1699delinsT (p.Gln560_Val567delinsPhe)
|
rs1566912450
|
|
NM_130839.5(UBE3A):c.167C>A (p.Thr56Asn)
|
rs1431543223
|
|
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del)
|
rs587782909
|
|
NM_130839.5(UBE3A):c.171T>A (p.Phe57Leu)
|
rs2081083253
|
|
NM_130839.5(UBE3A):c.172C>T (p.Leu58Phe)
|
rs2081082912
|
|
NM_130839.5(UBE3A):c.1786T>G (p.Phe596Val)
|
rs2152701089
|
|
NM_130839.5(UBE3A):c.178A>G (p.Met60Val)
|
rs2081081704
|
|
NM_130839.5(UBE3A):c.1858A>G (p.Ile620Val)
|
rs2152700776
|
|
NM_130839.5(UBE3A):c.1891C>T (p.Pro631Ser)
|
rs1310879709
|
|
NM_130839.5(UBE3A):c.1894A>G (p.Met632Val)
|
rs2152700582
|
|
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu)
|
rs398124439
|
|
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His)
|
rs374601913
|
|
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro)
|
rs374601913
|
|
NM_130839.5(UBE3A):c.1937G>T (p.Arg646Leu)
|
rs374601913
|
|
NM_130839.5(UBE3A):c.1997A>C (p.Glu666Ala)
|
|
|
NM_130839.5(UBE3A):c.2003A>G (p.Asn668Ser)
|
rs557434570
|
|
NM_130839.5(UBE3A):c.2013T>C (p.Asp671=)
|
|
|
NM_130839.5(UBE3A):c.2030T>C (p.Phe677Ser)
|
rs1566894864
|
|
NM_130839.5(UBE3A):c.2068A>T (p.Met690Leu)
|
|
|
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp)
|
rs587784523
|
|
NM_130839.5(UBE3A):c.2124+3A>G
|
|
|
NM_130839.5(UBE3A):c.2124+6_2124+9del
|
rs756899000
|
|
NM_130839.5(UBE3A):c.2153T>G (p.Ile718Ser)
|
|
|
NM_130839.5(UBE3A):c.2162A>T (p.Lys721Ile)
|
rs1555389881
|
|
NM_130839.5(UBE3A):c.2168T>G (p.Val723Gly)
|
|
|
NM_130839.5(UBE3A):c.2181C>G (p.Phe727Leu)
|
rs2076974201
|
|
NM_130839.5(UBE3A):c.2183A>C (p.Lys728Thr)
|
|
|
NM_130839.5(UBE3A):c.2204A>G (p.His735Arg)
|
|
|
NM_130839.5(UBE3A):c.2224C>T (p.Pro742Ser)
|
rs2152684043
|
|
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del)
|
rs2076968392
|
|
NM_130839.5(UBE3A):c.2239T>C (p.Phe747Leu)
|
rs2076968651
|
|
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val)
|
rs2076968651
|
|
NM_130839.5(UBE3A):c.2263C>G (p.Leu755Val)
|
rs1345019600
|
|
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln)
|
rs761011538
|
|
NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup)
|
rs2152682847
|
|
NM_130839.5(UBE3A):c.229G>A (p.Ala77Thr)
|
|
|
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser)
|
rs1566887391
|
|
NM_130839.5(UBE3A):c.232A>G (p.Lys78Glu)
|
|
|
NM_130839.5(UBE3A):c.2345T>C (p.Val782Ala)
|
|
|
NM_130839.5(UBE3A):c.2354+6G>A
|
rs771697024
|
|
NM_130839.5(UBE3A):c.2355-3T>C
|
rs2074512326
|
|
NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp)
|
|
|
NM_130839.5(UBE3A):c.2416A>G (p.Thr806Ala)
|
rs2074503291
|
|
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)
|
rs374519603
|
|
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu)
|
rs1595375255
|
|
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu)
|
|
|
NM_130839.5(UBE3A):c.2470A>G (p.Ile824Val)
|
|
|
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr)
|
rs1452134414
|
|
NM_130839.5(UBE3A):c.2498+3A>G
|
rs2074491163
|
|
NM_130839.5(UBE3A):c.2503C>A (p.Pro835Thr)
|
|
|
NM_130839.5(UBE3A):c.2506A>G (p.Thr836Ala)
|
|
|
NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val)
|
|
|
NM_130839.5(UBE3A):c.2557G>C (p.Glu853Gln)
|
|
|
NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met)
|
|
|
NM_130839.5(UBE3A):c.274G>C (p.Ala92Pro)
|
|
|
NM_130839.5(UBE3A):c.275C>T (p.Ala92Val)
|
rs2152847994
|
|
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser)
|
rs772952625
|
|
NM_130839.5(UBE3A):c.290C>G (p.Ser97Trp)
|
rs772110423
|
|
NM_130839.5(UBE3A):c.296G>A (p.Gly99Asp)
|
rs943659663
|
|
NM_130839.5(UBE3A):c.301C>T (p.Pro101Ser)
|
|
|
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp)
|
rs2081069977
|
|
NM_130839.5(UBE3A):c.311C>T (p.Ser104Phe)
|
|
|
NM_130839.5(UBE3A):c.328A>G (p.Met110Val)
|
rs369853017
|
|
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr)
|
rs376815580
|
|
NM_130839.5(UBE3A):c.343G>T (p.Ala115Ser)
|
|
|
NM_130839.5(UBE3A):c.367A>C (p.Thr123Pro)
|
|
|
NM_130839.5(UBE3A):c.368C>G (p.Thr123Ser)
|
rs2080325563
|
|
NM_130839.5(UBE3A):c.400C>A (p.Leu134Ile)
|
rs566793027
|
|
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe)
|
rs566793027
|
|
NM_130839.5(UBE3A):c.410G>A (p.Cys137Tyr)
|
rs2080319240
|
|
NM_130839.5(UBE3A):c.425A>C (p.Asp142Ala)
|
rs1595815771
|
|
NM_130839.5(UBE3A):c.443G>A (p.Arg148His)
|
rs2080315079
|
|
NM_130839.5(UBE3A):c.454A>G (p.Arg152Gly)
|
rs772621378
|
|
NM_130839.5(UBE3A):c.461T>C (p.Phe154Ser)
|
|
|
NM_130839.5(UBE3A):c.494G>A (p.Arg165Gln)
|
|
|
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn)
|
rs780715298
|
|
NM_130839.5(UBE3A):c.574A>G (p.Lys192Glu)
|
rs757072130
|
|
NM_130839.5(UBE3A):c.578C>G (p.Ala193Gly)
|
rs2080300076
|
|
NM_130839.5(UBE3A):c.580G>C (p.Ala194Pro)
|
rs751370485
|
|
NM_130839.5(UBE3A):c.580G>T (p.Ala194Ser)
|
|
|
NM_130839.5(UBE3A):c.589G>A (p.Ala197Thr)
|
rs752711811
|
|
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser)
|
rs147145506
|
|
NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro)
|
|
|
NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro)
|
|
|
NM_130839.5(UBE3A):c.629G>A (p.Arg210Lys)
|
|
|
NM_130839.5(UBE3A):c.633A>G (p.Ile211Met)
|
|
|
NM_130839.5(UBE3A):c.641G>T (p.Ser214Ile)
|
rs2152822939
|
|
NM_130839.5(UBE3A):c.649G>A (p.Gly217Arg)
|
|
|
NM_130839.5(UBE3A):c.654CAA[1] (p.Asn220del)
|
rs763097042
|
|
NM_130839.5(UBE3A):c.656A>G (p.Asn219Ser)
|
|
|
NM_130839.5(UBE3A):c.680ATG[1] (p.Asp228del)
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rs773438461
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NM_130839.5(UBE3A):c.704C>T (p.Ala235Val)
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NM_130839.5(UBE3A):c.70G>A (p.Ala24Thr)
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NM_130839.5(UBE3A):c.718T>C (p.Tyr240His)
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NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala)
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NM_130839.5(UBE3A):c.730C>T (p.Leu244Phe)
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rs2152822674
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NM_130839.5(UBE3A):c.736A>G (p.Asn246Asp)
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NM_130839.5(UBE3A):c.745A>G (p.Ile249Val)
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rs951801729
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NM_130839.5(UBE3A):c.764A>G (p.Asn255Ser)
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NM_130839.5(UBE3A):c.772G>A (p.Val258Ile)
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NM_130839.5(UBE3A):c.827G>A (p.Arg276Gln)
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NM_130839.5(UBE3A):c.835A>G (p.Asn279Asp)
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rs376828905
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NM_130839.5(UBE3A):c.853A>G (p.Ile285Val)
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rs2080263323
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NM_130839.5(UBE3A):c.859G>A (p.Val287Ile)
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rs1064794579
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NM_130839.5(UBE3A):c.873A>C (p.Arg291Ser)
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NM_130839.5(UBE3A):c.916T>A (p.Phe306Ile)
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rs2080257342
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NM_130839.5(UBE3A):c.946G>T (p.Ala316Ser)
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NM_130839.5(UBE3A):c.959A>G (p.Lys320Arg)
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NM_130839.5(UBE3A):c.986A>T (p.Asn329Ile)
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NM_130839.5(UBE3A):c.993C>A (p.Asp331Glu)
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