NM_130839.5(UBE3A):c.1960-277C>T
|
rs34020669
|
0.12167
|
NM_130839.5(UBE3A):c.-164-5921T>A
|
rs12899875
|
0.12156
|
NM_130839.5(UBE3A):c.2499-152T>C
|
rs17115485
|
0.11928
|
NM_130839.5(UBE3A):c.-164-178_-164-177dup
|
rs137888437
|
0.04004
|
NM_130839.5(UBE3A):c.2499-219A>G
|
rs10047992
|
0.03189
|
NM_130839.5(UBE3A):c.20+251T>C
|
rs116271705
|
0.03029
|
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=)
|
rs34670662
|
0.02620
|
NM_130839.5(UBE3A):c.*23C>A
|
rs955490436
|
0.01841
|
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.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.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.1052A>G (p.Asn351Ser)
|
rs747932207
|
0.00005
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
NM_130839.5(UBE3A):c.20+473G>A
|
rs759994828
|
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.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00004
|
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=)
|
rs776564692
|
0.00004
|
NM_130839.5(UBE3A):c.1728G>A (p.Val576=)
|
rs749731066
|
0.00004
|
NM_130839.5(UBE3A):c.20+447A>G
|
rs751766501
|
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.1289G>T (p.Gly430Val)
|
rs1260300451
|
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.46A>G (p.Ile16Val)
|
rs777538399
|
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.1854G>C (p.Leu618=)
|
rs370142725
|
0.00002
|
NM_130839.5(UBE3A):c.2065A>G (p.Met689Val)
|
rs755765955
|
0.00002
|
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser)
|
rs916720140
|
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.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.1305T>A (p.Asp435Glu)
|
rs587783102
|
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.1754-3T>C
|
rs1398256620
|
0.00001
|
NM_130839.5(UBE3A):c.1754-4A>G
|
rs780429591
|
0.00001
|
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys)
|
rs587783098
|
0.00001
|
NM_130839.5(UBE3A):c.176G>A (p.Arg59His)
|
rs587784511
|
0.00001
|
NM_130839.5(UBE3A):c.1936C>T (p.Arg646Cys)
|
rs746286431
|
0.00001
|
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg)
|
rs747626553
|
0.00001
|
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)
|
rs371296838
|
0.00001
|
NM_130839.5(UBE3A):c.20+7T>C
|
rs771812460
|
0.00001
|
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val)
|
rs751477028
|
0.00001
|
NM_130839.5(UBE3A):c.235C>T (p.Leu79Phe)
|
rs2081076923
|
0.00001
|
NM_130839.5(UBE3A):c.2400A>T (p.Arg800Ser)
|
rs1446392769
|
0.00001
|
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His)
|
rs1057520393
|
0.00001
|
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)
|
rs587780991
|
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.356T>G (p.Phe119Cys)
|
rs753429030
|
0.00001
|
NM_130839.5(UBE3A):c.493C>T (p.Arg165Trp)
|
rs1085307791
|
0.00001
|
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser)
|
rs1383474985
|
0.00001
|
NM_130839.5(UBE3A):c.63-5T>G
|
rs587783144
|
0.00001
|
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala)
|
rs777672019
|
0.00001
|
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser)
|
rs587782922
|
0.00001
|
NM_130839.5(UBE3A):c.744A>G (p.Lys248=)
|
rs367996463
|
0.00001
|
NM_130839.5(UBE3A):c.806C>T (p.Thr269Met)
|
rs1459066021
|
0.00001
|
NM_130839.5(UBE3A):c.819A>G (p.Val273=)
|
rs370294710
|
0.00001
|
NM_130839.5(UBE3A):c.858C>T (p.Ile286=)
|
rs61740972
|
0.00001
|
NM_130838.2(UBE3A):c.[255_259del;269del]
|
|
|
NM_130839.5(UBE3A):c.*12del
|
rs745340054
|
|
NM_130839.5(UBE3A):c.*22_*35del
|
rs573271880
|
|
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=)
|
rs587782926
|
|
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.-100-317del
|
rs34285975
|
|
NM_130839.5(UBE3A):c.-164-3898dup
|
rs57736236
|
|
NM_130839.5(UBE3A):c.-164-969dup
|
rs202014453
|
|
NM_130839.5(UBE3A):c.1040A>C (p.Lys347Thr)
|
|
|
NM_130839.5(UBE3A):c.1059T>G (p.Phe353Leu)
|
rs768524039
|
|
NM_130839.5(UBE3A):c.1065T>C (p.Ser355=)
|
|
|
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter)
|
rs2080238010
|
|
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly)
|
rs1219606975
|
|
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu)
|
rs763388142
|
|
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu)
|
rs143000400
|
|
NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs)
|
|
|
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val)
|
rs200380619
|
|
NM_130839.5(UBE3A):c.1204A>C (p.Ser402Arg)
|
|
|
NM_130839.5(UBE3A):c.1207G>A (p.Glu403Lys)
|
rs1555400239
|
|
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter)
|
rs1555400239
|
|
NM_130839.5(UBE3A):c.1219C>T (p.Gln407Ter)
|
|
|
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=)
|
rs1460036615
|
|
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter)
|
rs886043612
|
|
NM_130839.5(UBE3A):c.1241_1247del (p.Arg414fs)
|
rs886041283
|
|
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs)
|
rs886041603
|
|
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter)
|
rs587781196
|
|
NM_130839.5(UBE3A):c.1277A>C (p.Glu426Ala)
|
rs2152820840
|
|
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys)
|
rs1555403204
|
|
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu)
|
rs2152820660
|
|
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs)
|
rs587784512
|
|
NM_130839.5(UBE3A):c.140C>T (p.Thr47Met)
|
|
|
NM_130839.5(UBE3A):c.1415T>A (p.Phe472Tyr)
|
|
|
NM_130839.5(UBE3A):c.1421T>C (p.Phe474Ser)
|
|
|
NM_130839.5(UBE3A):c.1457A>G (p.Lys486Arg)
|
|
|
NM_130839.5(UBE3A):c.1458G>T (p.Lys486Asn)
|
|
|
NM_130839.5(UBE3A):c.1471T>G (p.Tyr491Asp)
|
rs1555399980
|
|
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)
|
rs863225068
|
|
NM_130839.5(UBE3A):c.1474T>C (p.Tyr492His)
|
rs2152820213
|
|
NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp)
|
rs1057517876
|
|
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)
|
rs1555399937
|
|
NM_130839.5(UBE3A):c.153_154dup (p.Ala52fs)
|
rs886041451
|
|
NM_130839.5(UBE3A):c.1541dup (p.Gln515fs)
|
rs1064796224
|
|
NM_130839.5(UBE3A):c.1546T>C (p.Leu516=)
|
rs2152820037
|
|
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)
|
rs1064793307
|
|
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)
|
rs1064795012
|
|
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg)
|
|
|
NM_130839.5(UBE3A):c.1606C>T (p.Arg536Trp)
|
rs1385940029
|
|
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs)
|
rs398124438
|
|
NM_130839.5(UBE3A):c.1608+1G>A
|
rs1555399890
|
|
NM_130839.5(UBE3A):c.1609-11T>C
|
rs1555393315
|
|
NM_130839.5(UBE3A):c.1609-303_1609-302insCTAA
|
rs3043907
|
|
NM_130839.5(UBE3A):c.1609-57dup
|
rs369867124
|
|
NM_130839.5(UBE3A):c.1609-8A>G
|
rs2077891986
|
|
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr)
|
rs1301123423
|
|
NM_130839.5(UBE3A):c.1621G>A (p.Ala541Thr)
|
rs755392575
|
|
NM_130839.5(UBE3A):c.1673G>A (p.Gly558Glu)
|
|
|
NM_130839.5(UBE3A):c.1704C>T (p.Ser568=)
|
rs1177834519
|
|
NM_130839.5(UBE3A):c.1708G>C (p.Glu570Gln)
|
rs2152730028
|
|
NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del)
|
rs1064796545
|
|
NM_130839.5(UBE3A):c.1754-2A>C
|
rs587780579
|
|
NM_130839.5(UBE3A):c.1767del (p.Thr588_Tyr589insTer)
|
rs2152701181
|
|
NM_130839.5(UBE3A):c.1789dup (p.Trp597fs)
|
rs1595601899
|
|
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs)
|
rs794727738
|
|
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs)
|
rs587784520
|
|
NM_130839.5(UBE3A):c.1836T>C (p.Ile612=)
|
rs1595601233
|
|
NM_130839.5(UBE3A):c.1906A>G (p.Arg636Gly)
|
|
|
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu)
|
rs398124439
|
|
NM_130839.5(UBE3A):c.1933T>G (p.Phe645Val)
|
rs398124439
|
|
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His)
|
rs374601913
|
|
NM_130839.5(UBE3A):c.1953_1954del (p.His652fs)
|
rs886039516
|
|
NM_130839.5(UBE3A):c.1969C>T (p.Gln657Ter)
|
rs2077173386
|
|
NM_130839.5(UBE3A):c.1972A>C (p.Ser658Arg)
|
rs2152694134
|
|
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val)
|
rs587783146
|
|
NM_130839.5(UBE3A):c.20+402A>G
|
|
|
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter)
|
rs587781213
|
|
NM_130839.5(UBE3A):c.2035A>G (p.Ile679Val)
|
|
|
NM_130839.5(UBE3A):c.2049dup (p.Leu684fs)
|
|
|
NM_130839.5(UBE3A):c.21-55dup
|
rs35086186
|
|
NM_130839.5(UBE3A):c.211G>A (p.Glu71Lys)
|
rs1207660411
|
|
NM_130839.5(UBE3A):c.2125-1G>A
|
rs1064795001
|
|
NM_130839.5(UBE3A):c.2125-259_2125-257del
|
rs145678595
|
|
NM_130839.5(UBE3A):c.2125-96_2125-94del
|
rs562275288
|
|
NM_130839.5(UBE3A):c.2134A>C (p.Asn712His)
|
rs1555389918
|
|
NM_130839.5(UBE3A):c.2147A>T (p.Asp716Val)
|
rs2076978794
|
|
NM_130839.5(UBE3A):c.2155C>T (p.Leu719Phe)
|
rs2076977707
|
|
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del)
|
rs2076968392
|
|
NM_130839.5(UBE3A):c.2281-40_2281-38del
|
rs2066728
|
|
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser)
|
rs1566887391
|
|
NM_130839.5(UBE3A):c.2340C>G (p.Asp780Glu)
|
|
|
NM_130839.5(UBE3A):c.2357A>C (p.Glu786Ala)
|
rs2152515522
|
|
NM_130839.5(UBE3A):c.2376T>C (p.His792=)
|
rs2152515457
|
|
NM_130839.5(UBE3A):c.2391del (p.Glu797fs)
|
rs1595376260
|
|
NM_130839.5(UBE3A):c.2406C>A (p.Phe802Leu)
|
rs2152515292
|
|
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)
|
rs374519603
|
|
NM_130839.5(UBE3A):c.2419del (p.Thr807fs)
|
|
|
NM_130839.5(UBE3A):c.242A>G (p.Asp81Gly)
|
|
|
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs)
|
rs587781225
|
|
NM_130839.5(UBE3A):c.2433_2434del (p.Arg811fs)
|
rs886039476
|
|
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu)
|
rs2074497888
|
|
NM_130839.5(UBE3A):c.2469dup (p.Ile824fs)
|
rs886041289
|
|
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr)
|
rs1452134414
|
|
NM_130839.5(UBE3A):c.2483G>T (p.Gly828Val)
|
rs2074492359
|
|
NM_130839.5(UBE3A):c.248A>G (p.His83Arg)
|
rs2152848042
|
|
NM_130839.5(UBE3A):c.2503C>T (p.Pro835Ser)
|
rs1555379920
|
|
NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser)
|
rs868694099
|
|
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs)
|
rs2074302214
|
|
NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg)
|
|
|
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)
|
rs587783097
|
|
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs)
|
rs398124440
|
|
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer)
|
rs398124440
|
|
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)
|
rs863225070
|
|
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs)
|
rs587781231
|
|
NM_130839.5(UBE3A):c.2567_2568dup (p.Glu857fs)
|
rs587781231
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_130839.5(UBE3A):c.2567_2570dup (p.Leu859fs)
|
rs587784527
|
|
NM_130839.5(UBE3A):c.2571_2574del (p.Glu857fs)
|
rs886041252
|
|
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
|
|
|
NM_130839.5(UBE3A):c.2589C>A (p.Ile863=)
|
rs1414220524
|
|
NM_130839.5(UBE3A):c.2596del (p.Ala866fs)
|
rs1064797196
|
|
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)
|
rs587784528
|
|
NM_130839.5(UBE3A):c.2617_*12del (p.Ter873del)
|
rs2074282420
|
|
NM_130839.5(UBE3A):c.283G>C (p.Glu95Gln)
|
|
|
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp)
|
rs2081069977
|
|
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys)
|
rs1417154910
|
|
NM_130839.5(UBE3A):c.340G>A (p.Gly114Ser)
|
|
|
NM_130839.5(UBE3A):c.357T>G (p.Phe119Leu)
|
rs2152847522
|
|
NM_130839.5(UBE3A):c.362A>G (p.Asp121Gly)
|
|
|
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala)
|
rs1211073576
|
|
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer)
|
rs587780570
|
|
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs)
|
rs587784529
|
|
NM_130839.5(UBE3A):c.393del (p.Val130_Tyr131insTer)
|
rs1595816114
|
|
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe)
|
rs566793027
|
|
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg)
|
rs587782907
|
|
NM_130839.5(UBE3A):c.419G>A (p.Arg140Lys)
|
|
|
NM_130839.5(UBE3A):c.422A>G (p.Glu141Gly)
|
|
|
NM_130839.5(UBE3A):c.463dup (p.Ser155fs)
|
rs587780572
|
|
NM_130839.5(UBE3A):c.517del (p.Glu173fs)
|
rs1131691801
|
|
NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter)
|
rs2080305309
|
|
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs)
|
rs786200996
|
|
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn)
|
rs780715298
|
|
NM_130839.5(UBE3A):c.587C>T (p.Ser196Phe)
|
rs2152823217
|
|
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser)
|
rs147145506
|
|
NM_130839.5(UBE3A):c.62+289_62+293del
|
rs71127053
|
|
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter)
|
rs1566961418
|
|
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr)
|
rs587780577
|
|
NM_130839.5(UBE3A):c.63-14_63-7del
|
rs794727306
|
|
NM_130839.5(UBE3A):c.63-68_63-66del
|
rs71418040
|
|
NM_130839.5(UBE3A):c.645A>C (p.Ser215=)
|
|
|
NM_130839.5(UBE3A):c.654C>T (p.Asp218=)
|
rs1057523244
|
|
NM_130839.5(UBE3A):c.654CAA[1] (p.Asn220del)
|
rs763097042
|
|
NM_130839.5(UBE3A):c.675C>A (p.Gly225=)
|
rs1595812490
|
|
NM_130839.5(UBE3A):c.676C>T (p.Pro226Ser)
|
rs2152822794
|
|
NM_130839.5(UBE3A):c.677C>G (p.Pro226Arg)
|
|
|
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter)
|
rs1490279918
|
|
NM_130839.5(UBE3A):c.720C>A (p.Tyr240Ter)
|
rs755078197
|
|
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala)
|
|
|
NM_130839.5(UBE3A):c.744A>T (p.Lys248Asn)
|
rs367996463
|
|
NM_130839.5(UBE3A):c.767C>A (p.Ala256Glu)
|
rs1566960274
|
|
NM_130839.5(UBE3A):c.827del (p.Arg276fs)
|
rs886039448
|
|
NM_130839.5(UBE3A):c.858C>A (p.Ile286=)
|
rs61740972
|
|
NM_130839.5(UBE3A):c.858C>G (p.Ile286Met)
|
|
|
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile)
|
rs1064794579
|
|
NM_130839.5(UBE3A):c.870T>C (p.Asn290=)
|
rs61740969
|
|
NM_130839.5(UBE3A):c.901A>G (p.Met301Val)
|
rs587783147
|
|
NM_130839.5(UBE3A):c.91G>A (p.Glu31Lys)
|
rs2152848642
|
|
NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly)
|
rs1057524508
|
|
NM_130839.5(UBE3A):c.940C>A (p.Pro314Thr)
|
|
|
NM_130839.5(UBE3A):c.943C>T (p.Leu315Phe)
|
rs2152822041
|
|
NM_130839.5(UBE3A):c.948_950del (p.Ala317del)
|
rs398124441
|
|
NM_130839.5(UBE3A):c.960A>G (p.Lys320=)
|
rs2152821993
|
|
NM_130839.5(UBE3A):c.988_989delinsTT (p.Ala330Leu)
|
rs2152821892
|
|