NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)
|
rs371154816
|
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.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.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.2135A>G (p.Asn712Ser)
|
rs916720140
|
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.1754-4A>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.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.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.806C>T (p.Thr269Met)
|
rs1459066021
|
0.00001
|
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=)
|
rs587782926
|
|
NM_130839.5(UBE3A):c.-164-3898dup
|
rs57736236
|
|
NM_130839.5(UBE3A):c.1040A>C (p.Lys347Thr)
|
|
|
NM_130839.5(UBE3A):c.1059T>G (p.Phe353Leu)
|
rs768524039
|
|
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.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.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.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.1474T>C (p.Tyr492His)
|
rs2152820213
|
|
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg)
|
|
|
NM_130839.5(UBE3A):c.1606C>T (p.Arg536Trp)
|
rs1385940029
|
|
NM_130839.5(UBE3A):c.1609-11T>C
|
rs1555393315
|
|
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.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.1972A>C (p.Ser658Arg)
|
rs2152694134
|
|
NM_130839.5(UBE3A):c.20+402A>G
|
|
|
NM_130839.5(UBE3A):c.2035A>G (p.Ile679Val)
|
|
|
NM_130839.5(UBE3A):c.211G>A (p.Glu71Lys)
|
rs1207660411
|
|
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.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.2406C>A (p.Phe802Leu)
|
rs2152515292
|
|
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)
|
rs374519603
|
|
NM_130839.5(UBE3A):c.242A>G (p.Asp81Gly)
|
|
|
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu)
|
rs2074497888
|
|
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr)
|
rs1452134414
|
|
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.2555A>G (p.Lys852Arg)
|
|
|
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)
|
rs587783097
|
|
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
|
|
|
NM_130839.5(UBE3A):c.2589C>A (p.Ile863=)
|
rs1414220524
|
|
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)
|
rs587784528
|
|
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.400C>T (p.Leu134Phe)
|
rs566793027
|
|
NM_130839.5(UBE3A):c.419G>A (p.Arg140Lys)
|
|
|
NM_130839.5(UBE3A):c.422A>G (p.Glu141Gly)
|
|
|
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.63-14_63-7del
|
rs794727306
|
|
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.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.858C>G (p.Ile286Met)
|
|
|
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile)
|
rs1064794579
|
|
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.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.988_989delinsTT (p.Ala330Leu)
|
rs2152821892
|
|