NM_130839.5(UBE3A):c.477A>T (p.Ala159=)
|
rs28528079
|
0.03018
|
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=)
|
rs34670662
|
0.02620
|
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)
|
rs61734190
|
0.02311
|
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=)
|
rs114056442
|
0.00599
|
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.618A>T (p.Ala206=)
|
rs143484751
|
0.00121
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_130839.5(UBE3A):c.2281-42T>C
|
rs543571933
|
0.00064
|
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)
|
rs150331504
|
0.00054
|
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.1753+32G>A
|
rs373746667
|
0.00006
|
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=)
|
rs759095902
|
0.00006
|
NM_130839.5(UBE3A):c.2499-37dup
|
rs587782913
|
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.1153G>A (p.Val385Met)
|
rs763388142
|
0.00005
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
NM_130839.5(UBE3A):c.647A>C (p.Gln216Pro)
|
rs144950303
|
0.00005
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
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.1169A>G (p.Asn390Ser)
|
rs147446244
|
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.1289G>T (p.Gly430Val)
|
rs1260300451
|
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.2355G>A (p.Arg785=)
|
rs587783103
|
0.00003
|
NM_130839.5(UBE3A):c.291G>A (p.Ser97=)
|
rs1411368065
|
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.361+30G>A
|
rs367646993
|
0.00003
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser)
|
rs752711811
|
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.1067G>A (p.Arg356Gln)
|
rs780050034
|
0.00002
|
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu)
|
rs200380619
|
0.00002
|
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.2114A>G (p.Glu705Gly)
|
rs764195093
|
0.00002
|
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser)
|
rs916720140
|
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.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.1134A>G (p.Ala378=)
|
rs1055822466
|
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.1272C>T (p.Pro424=)
|
rs1057520392
|
0.00001
|
NM_130839.5(UBE3A):c.1305T>C (p.Asp435=)
|
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.1607G>A (p.Arg536Gln)
|
rs779375881
|
0.00001
|
NM_130839.5(UBE3A):c.1609-10C>T
|
rs1490784858
|
0.00001
|
NM_130839.5(UBE3A):c.1753+12A>G
|
rs368720379
|
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.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>A (p.Arg646Ser)
|
rs746286431
|
0.00001
|
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg)
|
rs747626553
|
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.2104A>G (p.Ile702Val)
|
rs751477028
|
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.2216A>G (p.Asn739Ser)
|
rs778808533
|
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.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.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.2499-6A>G
|
rs925559099
|
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+16T>A
|
rs1285482314
|
0.00001
|
NM_130839.5(UBE3A):c.361+29T>C
|
rs587782914
|
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.507A>G (p.Gln169=)
|
rs1555401033
|
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.660T>C (p.Asn220=)
|
rs201667751
|
0.00001
|
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser)
|
rs587782922
|
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.790G>A (p.Val264Met)
|
rs745363984
|
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.826C>A (p.Arg276=)
|
rs997044541
|
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
|
GRCh37/hg19 15q11.2(chr15:25582396-25684175)x1
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578)
|
|
|
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399)
|
|
|
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1
|
|
|
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1
|
|
|
NC_000015.10:g.(?_24566038)_(25781223_?)del
|
|
|
NC_000015.10:g.(?_24566038)_(25781223_?)dup
|
|
|
NC_000015.10:g.(?_25339117)_(25360547_?)dup
|
|
|
NC_000015.10:g.(?_25339117)_(25409127_?)del
|
|
|
NC_000015.10:g.(?_25339137)_(25405462_?)dup
|
|
|
NC_000015.10:g.(?_25354333)_(25360547_?)del
|
|
|
NC_000015.10:g.(?_25360363)_(25360547_?)del
|
|
|
NC_000015.10:g.(?_25375445)_(25375783_?)del
|
|
|
NC_000015.10:g.23370759_30529376del
|
|
|
NC_000015.10:g.25375764del
|
|
|
NC_000015.9:g.(?_23730704)_(28530182_?)del
|
|
|
NC_000015.9:g.(?_25582396)_(25650653_?)dup
|
|
|
NC_000015.9:g.(?_25584264)_(25620930_?)dup
|
|
|
NC_000015.9:g.(?_25584264)_(25654274_?)dup
|
|
|
NC_000015.9:g.(?_25584273)_(25650609_?)del
|
|
|
NC_000015.9:g.(?_25584273)_(25650609_?)dup
|
|
|
NC_000015.9:g.(?_25584284)_(25585395_?)del
|
|
|
NC_000015.9:g.(?_25584284)_(25585395_?)dup
|
|
|
NC_000015.9:g.(?_25584284)_(25620930_?)dup
|
|
|
NC_000015.9:g.(?_25615693)_(25650609_?)del
|
|
|
NM_000462.3(UBE3A):c.2365delG
|
rs2074511604
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs)
|
rs1557135251
|
|
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del)
|
rs267608332
|
|
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)
|
rs267608434
|
|
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs)
|
rs267608546
|
|
NM_033223.5(GABRG3):c.1125C>T (p.Asn375=)
|
rs1891450501
|
|
NM_130838.1(UBE3A):c.-44_*1888del
|
|
|
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=)
|
rs587782926
|
|
NM_130839.5(UBE3A):c.*46del
|
rs368425414
|
|
NM_130839.5(UBE3A):c.*80_*83dup
|
rs2152505917
|
|
NM_130839.5(UBE3A):c.1000C>G (p.Arg334Gly)
|
|
|
NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln)
|
|
|
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=)
|
rs1595808837
|
|
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr)
|
rs863225071
|
|
NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter)
|
rs2080245178
|
|
NM_130839.5(UBE3A):c.1014G>A (p.Glu338=)
|
rs779092156
|
|
NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter)
|
rs587781191
|
|
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter)
|
rs587784534
|
|
NM_130839.5(UBE3A):c.1026A>G (p.Gln342=)
|
|
|
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs)
|
rs587781192
|
|
NM_130839.5(UBE3A):c.1059T>C (p.Phe353=)
|
|
|
NM_130839.5(UBE3A):c.1060A>G (p.Asn354Asp)
|
rs1595808009
|
|
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter)
|
rs2080238010
|
|
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.1122G>A (p.Met374Ile)
|
|
|
NM_130839.5(UBE3A):c.1127dup (p.Tyr376Ter)
|
rs587781193
|
|
NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter)
|
rs2080231132
|
|
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly)
|
rs1219606975
|
|
NM_130839.5(UBE3A):c.1136dup (p.Asn379fs)
|
rs587781194
|
|
NM_130839.5(UBE3A):c.1139T>C (p.Val380Ala)
|
|
|
NM_130839.5(UBE3A):c.1147G>A (p.Gly383Arg)
|
rs764318379
|
|
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter)
|
rs587784508
|
|
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.1161A>G (p.Thr387=)
|
|
|
NM_130839.5(UBE3A):c.1161A>T (p.Thr387=)
|
rs753078220
|
|
NM_130839.5(UBE3A):c.1168A>G (p.Asn390Asp)
|
rs765910610
|
|
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs)
|
rs587784509
|
|
NM_130839.5(UBE3A):c.1173AGA[1] (p.Glu392del)
|
|
|
NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter)
|
rs587781195
|
|
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.119G>T (p.Gly40Val)
|
rs864309506
|
|
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=)
|
rs774072376
|
|
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter)
|
rs1555400239
|
|
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=)
|
rs1460036615
|
|
NM_130839.5(UBE3A):c.1236A>C (p.Glu412Asp)
|
|
|
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs)
|
rs886041603
|
|
NM_130839.5(UBE3A):c.1248C>T (p.Asn416=)
|
rs2152820982
|
|
NM_130839.5(UBE3A):c.1255G>A (p.Gly419Ser)
|
|
|
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter)
|
rs587781196
|
|
NM_130839.5(UBE3A):c.1285C>G (p.Leu429Val)
|
rs1263950376
|
|
NM_130839.5(UBE3A):c.1301T>G (p.Leu434Arg)
|
|
|
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
|
|
|
NM_130839.5(UBE3A):c.131A>C (p.Glu44Ala)
|
rs2081089937
|
|
NM_130839.5(UBE3A):c.1321dup (p.Ile441fs)
|
|
|
NM_130839.5(UBE3A):c.1322del (p.Ile441fs)
|
rs1595804239
|
|
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu)
|
rs2152820660
|
|
NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter)
|
rs587781197
|
|
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=)
|
rs1555400103
|
|
NM_130839.5(UBE3A):c.1344T>A (p.Asn448Lys)
|
|
|
NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter)
|
rs587781198
|
|
NM_130839.5(UBE3A):c.1347A>G (p.Glu449=)
|
rs2152820597
|
|
NM_130839.5(UBE3A):c.1359G>C (p.Glu453Asp)
|
|
|
NM_130839.5(UBE3A):c.1363C>G (p.Leu455Val)
|
|
|
NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro)
|
rs587781242
|
|
NM_130839.5(UBE3A):c.1383T>C (p.Tyr461=)
|
|
|
NM_130839.5(UBE3A):c.1388T>C (p.Phe463Ser)
|
|
|
NM_130839.5(UBE3A):c.1394A>G (p.Lys465Arg)
|
|
|
NM_130839.5(UBE3A):c.1398A>G (p.Val466=)
|
|
|
NM_130839.5(UBE3A):c.1401A>G (p.Glu467=)
|
|
|
NM_130839.5(UBE3A):c.1402del (p.Thr468fs)
|
rs2080191422
|
|
NM_130839.5(UBE3A):c.1405_1408del (p.Glu469fs)
|
rs587784512
|
|
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs)
|
rs587784512
|
|
NM_130839.5(UBE3A):c.1415dup (p.Ser473fs)
|
rs587781199
|
|
NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs)
|
rs587781200
|
|
NM_130839.5(UBE3A):c.1425_1439del (p.Met475_Phe479del)
|
rs587780585
|
|
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=)
|
rs138049263
|
|
NM_130839.5(UBE3A):c.1428dup (p.Cys477fs)
|
|
|
NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter)
|
rs587781201
|
|
NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu)
|
rs587780584
|
|
NM_130839.5(UBE3A):c.1435T>A (p.Phe479Ile)
|
|
|
NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr)
|
|
|
NM_130839.5(UBE3A):c.1447del (p.Ala483fs)
|
rs587781202
|
|
NM_130839.5(UBE3A):c.1461T>C (p.Asn487=)
|
|
|
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)
|
rs863225068
|
|
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.1490G>C (p.Arg497Pro)
|
rs587781243
|
|
NM_130839.5(UBE3A):c.1494G>A (p.Met498Ile)
|
rs587782916
|
|
NM_130839.5(UBE3A):c.1497C>T (p.Tyr499=)
|
|
|
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)
|
rs1555399937
|
|
NM_130839.5(UBE3A):c.1509A>G (p.Arg503=)
|
|
|
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=)
|
rs878855201
|
|
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs)
|
rs587784513
|
|
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.1554A>C (p.Pro518=)
|
|
|
NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs)
|
rs587781203
|
|
NM_130839.5(UBE3A):c.1566C>T (p.Leu522=)
|
rs2152820006
|
|
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.1594G>T (p.Asp532Tyr)
|
rs2152819923
|
|
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)
|
rs587781204
|
|
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.159del (p.Cys54fs)
|
rs587780565
|
|
NM_130839.5(UBE3A):c.1600del (p.Val535fs)
|
rs1566954070
|
|
NM_130839.5(UBE3A):c.1608+34T>C
|
rs587782917
|
|
NM_130839.5(UBE3A):c.1608+3A>T
|
|
|
NM_130839.5(UBE3A):c.1609-11T>C
|
rs1555393315
|
|
NM_130839.5(UBE3A):c.1609-20dup
|
rs779671805
|
|
NM_130839.5(UBE3A):c.1609-8A>G
|
rs2077891986
|
|
NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs)
|
|
|
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr)
|
rs1301123423
|
|
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)
|
rs1057523671
|
|
NM_130839.5(UBE3A):c.1625T>G (p.Met542Arg)
|
rs2152730267
|
|
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter)
|
rs587784514
|
|
NM_130839.5(UBE3A):c.1631dup (p.Asn544fs)
|
rs587781205
|
|
NM_130839.5(UBE3A):c.1651C>A (p.Gln551Lys)
|
rs113932065
|
|
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter)
|
rs587784515
|
|
NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter)
|
rs587781206
|
|
NM_130839.5(UBE3A):c.1675G>C (p.Glu559Gln)
|
rs2152730149
|
|
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.1682G>A (p.Gly561Glu)
|
rs2077884610
|
|
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del)
|
rs587782909
|
|
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg)
|
rs587781233
|
|
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu)
|
rs587784516
|
|
NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser)
|
rs1555393242
|
|
NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs)
|
rs587781207
|
|
NM_130839.5(UBE3A):c.1704del (p.Glu570fs)
|
|
|
NM_130839.5(UBE3A):c.1710A>G (p.Glu570=)
|
|
|
NM_130839.5(UBE3A):c.1719G>A (p.Gln573=)
|
rs1303052197
|
|
NM_130839.5(UBE3A):c.171T>A (p.Phe57Leu)
|
rs2081083253
|
|
NM_130839.5(UBE3A):c.171del (p.Leu58fs)
|
rs2152848314
|
|
NM_130839.5(UBE3A):c.172C>T (p.Leu58Phe)
|
rs2081082912
|
|
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser)
|
rs587784517
|
|
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly)
|
rs587784518
|
|
NM_130839.5(UBE3A):c.1753+11T>G
|
|
|
NM_130839.5(UBE3A):c.1753+15A>G
|
|
|
NM_130839.5(UBE3A):c.1754-2A>G
|
rs587780579
|
|
NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys)
|
rs587781244
|
|
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.1782del (p.Lys594fs)
|
rs1555391286
|
|
NM_130839.5(UBE3A):c.1786T>G (p.Phe596Val)
|
rs2152701089
|
|
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs)
|
rs587784519
|
|
NM_130839.5(UBE3A):c.178A>G (p.Met60Val)
|
rs2081081704
|
|
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter)
|
rs587781208
|
|
NM_130839.5(UBE3A):c.1791_1801delinsAAGATTCTTTTGAAA (p.Trp597_Ser601delinsTer)
|
|
|
NM_130839.5(UBE3A):c.1800A>G (p.Pro600=)
|
rs754664908
|
|
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)
|
rs587781234
|
|
NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln)
|
rs587781235
|
|
NM_130839.5(UBE3A):c.1820del (p.Gly607fs)
|
|
|
NM_130839.5(UBE3A):c.1822C>G (p.Gln608Glu)
|
rs587782918
|
|
NM_130839.5(UBE3A):c.1823A>C (p.Gln608Pro)
|
rs587782919
|
|
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg)
|
rs587782919
|
|
NM_130839.5(UBE3A):c.1830T>C (p.Thr610=)
|
rs2152700872
|
|
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs)
|
rs587784520
|
|
NM_130839.5(UBE3A):c.1838G>T (p.Gly613Val)
|
|
|
NM_130839.5(UBE3A):c.1850G>A (p.Gly617Asp)
|
|
|
NM_130839.5(UBE3A):c.1858A>G (p.Ile620Val)
|
rs2152700776
|
|
NM_130839.5(UBE3A):c.1860T>A (p.Ile620=)
|
rs2152700765
|
|
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp)
|
rs2077275624
|
|
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)
|
rs587784521
|
|
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs)
|
rs864309508
|
|
NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs)
|
rs587781209
|
|
NM_130839.5(UBE3A):c.1884A>C (p.Val628=)
|
rs774618110
|
|
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.1914A>G (p.Leu638=)
|
|
|
NM_130839.5(UBE3A):c.1920dup (p.Lys641fs)
|
|
|
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.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.1960G>C (p.Val654Leu)
|
rs2152694181
|
|
NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs)
|
rs587781210
|
|
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter)
|
rs1595591164
|
|
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=)
|
|
|
NM_130839.5(UBE3A):c.1992G>A (p.Glu664=)
|
|
|
NM_130839.5(UBE3A):c.1997A>C (p.Glu666Ala)
|
|
|
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val)
|
rs587783146
|
|
NM_130839.5(UBE3A):c.2001G>A (p.Gly667=)
|
|
|
NM_130839.5(UBE3A):c.2003A>G (p.Asn668Ser)
|
rs557434570
|
|
NM_130839.5(UBE3A):c.2013T>C (p.Asp671=)
|
|
|
NM_130839.5(UBE3A):c.2016C>T (p.Asp672=)
|
|
|
NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs)
|
rs587781211
|
|
NM_130839.5(UBE3A):c.2017dup (p.Met673fs)
|
rs587781212
|
|
NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile)
|
rs587781236
|
|
NM_130839.5(UBE3A):c.2030T>C (p.Phe677Ser)
|
rs1566894864
|
|
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter)
|
rs587781213
|
|
NM_130839.5(UBE3A):c.2032del (p.Gln678fs)
|
rs587781214
|
|
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg)
|
rs2077166492
|
|
NM_130839.5(UBE3A):c.2055T>C (p.Phe685=)
|
|
|
NM_130839.5(UBE3A):c.2068A>T (p.Met690Leu)
|
|
|
NM_130839.5(UBE3A):c.2078T>G (p.Leu693Arg)
|
rs587782920
|
|
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp)
|
rs587784523
|
|
NM_130839.5(UBE3A):c.2091T>C (p.Gly697=)
|
rs587782924
|
|
NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter)
|
rs1207660411
|
|
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+1G>T
|
rs2152693602
|
|
NM_130839.5(UBE3A):c.2124+3A>G
|
|
|
NM_130839.5(UBE3A):c.2124+6_2124+9del
|
rs756899000
|
|
NM_130839.5(UBE3A):c.2124+9_2124+10insTT
|
rs2077158910
|
|
NM_130839.5(UBE3A):c.2125-11G>A
|
|
|
NM_130839.5(UBE3A):c.2125-1G>A
|
rs1064795001
|
|
NM_130839.5(UBE3A):c.2125-20G>A
|
rs2152684554
|
|
NM_130839.5(UBE3A):c.2125-2A>C
|
rs587780580
|
|
NM_130839.5(UBE3A):c.2125-4A>G
|
|
|
NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys)
|
rs587781237
|
|
NM_130839.5(UBE3A):c.2145T>C (p.Ser715=)
|
rs2152684375
|
|
NM_130839.5(UBE3A):c.2153T>G (p.Ile718Ser)
|
|
|
NM_130839.5(UBE3A):c.2162A>T (p.Lys721Ile)
|
rs1555389881
|
|
NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs)
|
rs587781215
|
|
NM_130839.5(UBE3A):c.2162_2166dup (p.Val723fs)
|
rs2152684235
|
|
NM_130839.5(UBE3A):c.2168T>G (p.Val723Gly)
|
|
|
NM_130839.5(UBE3A):c.2169A>G (p.Val723=)
|
|
|
NM_130839.5(UBE3A):c.2181C>G (p.Phe727Leu)
|
rs2076974201
|
|
NM_130839.5(UBE3A):c.2183A>C (p.Lys728Thr)
|
|
|
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val)
|
rs1595572384
|
|
NM_130839.5(UBE3A):c.2204A>G (p.His735Arg)
|
|
|
NM_130839.5(UBE3A):c.2205T>C (p.His735=)
|
|
|
NM_130839.5(UBE3A):c.2224C>T (p.Pro742Ser)
|
rs2152684043
|
|
NM_130839.5(UBE3A):c.2230_2231dup (p.Tyr745fs)
|
|
|
NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter)
|
rs587781216
|
|
NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter)
|
rs587781217
|
|
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del)
|
rs2076968392
|
|
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs)
|
rs797046085
|
|
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.2246del (p.Pro749fs)
|
rs587781218
|
|
NM_130839.5(UBE3A):c.2263C>G (p.Leu755Val)
|
rs1345019600
|
|
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup)
|
rs2152683847
|
|
NM_130839.5(UBE3A):c.2268A>C (p.Ile756=)
|
|
|
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu)
|
|
|
NM_130839.5(UBE3A):c.2278C>T (p.Arg760Trp)
|
|
|
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln)
|
rs761011538
|
|
NM_130839.5(UBE3A):c.2280+14dup
|
|
|
NM_130839.5(UBE3A):c.2280+18T>G
|
rs200901786
|
|
NM_130839.5(UBE3A):c.2281-15T>C
|
rs767720713
|
|
NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup)
|
rs2152682847
|
|
NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter)
|
rs587781219
|
|
NM_130839.5(UBE3A):c.2295A>G (p.Gln765=)
|
|
|
NM_130839.5(UBE3A):c.229G>A (p.Ala77Thr)
|
|
|
NM_130839.5(UBE3A):c.2301A>G (p.Leu767=)
|
|
|
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter)
|
rs587781220
|
|
NM_130839.5(UBE3A):c.2305del (p.Glu769fs)
|
rs587781221
|
|
NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs)
|
rs587781222
|
|
NM_130839.5(UBE3A):c.2308del (p.Thr770fs)
|
|
|
NM_130839.5(UBE3A):c.2313A>G (p.Thr771=)
|
rs2152682737
|
|
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser)
|
rs1566887391
|
|
NM_130839.5(UBE3A):c.2328C>A (p.Gly776=)
|
|
|
NM_130839.5(UBE3A):c.232A>G (p.Lys78Glu)
|
|
|
NM_130839.5(UBE3A):c.2343T>C (p.Ser781=)
|
|
|
NM_130839.5(UBE3A):c.2344G>C (p.Val782Leu)
|
|
|
NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs)
|
rs2076939980
|
|
NM_130839.5(UBE3A):c.2345T>C (p.Val782Ala)
|
|
|
NM_130839.5(UBE3A):c.2349dup (p.Ile784fs)
|
rs587781223
|
|
NM_130839.5(UBE3A):c.2352T>C (p.Ile784=)
|
|
|
NM_130839.5(UBE3A):c.2354+10T>C
|
rs1555389575
|
|
NM_130839.5(UBE3A):c.2354+12A>G
|
rs748038950
|
|
NM_130839.5(UBE3A):c.2354+20A>G
|
rs587782911
|
|
NM_130839.5(UBE3A):c.2354+6G>A
|
rs771697024
|
|
NM_130839.5(UBE3A):c.2354+7T>A
|
|
|
NM_130839.5(UBE3A):c.2355-3T>C
|
rs2074512326
|
|
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)
|
rs111033595
|
|
NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs)
|
rs2074508602
|
|
NM_130839.5(UBE3A):c.2385del (p.Asp796fs)
|
rs2152515439
|
|
NM_130839.5(UBE3A):c.2388T>C (p.Asp796=)
|
|
|
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg)
|
rs2152848080
|
|
NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp)
|
|
|
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs)
|
rs797046086
|
|
NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs)
|
rs587781224
|
|
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del)
|
rs1555380809
|
|
NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter)
|
rs2074504404
|
|
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.2421G>A (p.Thr807=)
|
rs1239525577
|
|
NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp)
|
rs2152515149
|
|
NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs)
|
rs1595375630
|
|
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=)
|
rs1566825584
|
|
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs)
|
rs587781225
|
|
NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs)
|
rs587781225
|
|
NM_130839.5(UBE3A):c.2442G>A (p.Val814=)
|
rs1595375310
|
|
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu)
|
rs1595375255
|
|
NM_130839.5(UBE3A):c.2458_2461dup (p.Lys821fs)
|
|
|
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del)
|
rs587781238
|
|
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu)
|
|
|
NM_130839.5(UBE3A):c.2470A>G (p.Ile824Val)
|
|
|
NM_130839.5(UBE3A):c.2471T>A (p.Ile824Lys)
|
rs2152514867
|
|
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr)
|
rs1452134414
|
|
NM_130839.5(UBE3A):c.2498+19G>C
|
|
|
NM_130839.5(UBE3A):c.2498+1G>A
|
rs2152514807
|
|
NM_130839.5(UBE3A):c.2498+2T>C
|
rs2152514800
|
|
NM_130839.5(UBE3A):c.2498+3A>G
|
rs2074491163
|
|
NM_130839.5(UBE3A):c.2499-12T>C
|
|
|
NM_130839.5(UBE3A):c.2499-14T>G
|
|
|
NM_130839.5(UBE3A):c.2499-19del
|
|
|
NM_130839.5(UBE3A):c.2499-19dup
|
rs549180002
|
|
NM_130839.5(UBE3A):c.2499-31T>G
|
rs587782912
|
|
NM_130839.5(UBE3A):c.2499-40C>T
|
rs373042168
|
|
NM_130839.5(UBE3A):c.2503C>A (p.Pro835Thr)
|
|
|
NM_130839.5(UBE3A):c.2506A>G (p.Thr836Ala)
|
|
|
NM_130839.5(UBE3A):c.2508A>C (p.Thr836=)
|
rs1028493022
|
|
NM_130839.5(UBE3A):c.2508_2510dup (p.Ser837_His838insSer)
|
|
|
NM_130839.5(UBE3A):c.2510C>T (p.Ser837Phe)
|
|
|
NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs)
|
rs2152507134
|
|
NM_130839.5(UBE3A):c.2517_2553dup (p.Lys852delinsLeuLeuTer)
|
rs1595362860
|
|
NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val)
|
|
|
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs)
|
rs587781230
|
|
NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer)
|
rs1555379745
|
|
NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter)
|
rs587781226
|
|
NM_130839.5(UBE3A):c.2535_2538del (p.Leu845fs)
|
rs863224940
|
|
NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs)
|
rs1064792950
|
|
NM_130839.5(UBE3A):c.2538del (p.Pro847fs)
|
rs587781227
|
|
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)
|
rs587781239
|
|
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His)
|
rs587784526
|
|
NM_130839.5(UBE3A):c.2545_2560dup (p.Lys854fs)
|
|
|
NM_130839.5(UBE3A):c.2547C>G (p.Tyr849Ter)
|
rs1445563777
|
|
NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=)
|
|
|
NM_130839.5(UBE3A):c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu)
|
rs587781240
|
|
NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs)
|
rs1555379684
|
|
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter)
|
rs587781228
|
|
NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs)
|
rs1057519062
|
|
NM_130839.5(UBE3A):c.2557G>C (p.Glu853Gln)
|
|
|
NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs)
|
rs587781229
|
|
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs)
|
rs797046087
|
|
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_2567dup (p.Lys856fs)
|
rs1555379800
|
|
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)
|
rs863225070
|
|
NM_130839.5(UBE3A):c.2565_2584dup (p.Ala862delinsValLysArgAspCysTer)
|
|
|
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs)
|
rs587781231
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_130839.5(UBE3A):c.2575T>C (p.Leu859=)
|
|
|
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
|
|
|
NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met)
|
|
|
NM_130839.5(UBE3A):c.2592G>C (p.Thr864=)
|
|
|
NM_130839.5(UBE3A):c.259_262dup (p.Gly88fs)
|
rs587780566
|
|
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs)
|
rs2074288628
|
|
NM_130839.5(UBE3A):c.2604A>T (p.Gly868=)
|
rs965417906
|
|
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs)
|
rs797046088
|
|
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)
|
rs587784528
|
|
NM_130839.5(UBE3A):c.2614C>T (p.Leu872=)
|
rs2152506657
|
|
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?)
|
rs587781232
|
|
NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu)
|
rs76794400
|
|
NM_130839.5(UBE3A):c.270C>T (p.Ser90=)
|
rs2152848022
|
|
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.303C>T (p.Pro101=)
|
rs2152847825
|
|
NM_130839.5(UBE3A):c.303dup (p.Asn102fs)
|
|
|
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp)
|
rs2081069977
|
|
NM_130839.5(UBE3A):c.311C>T (p.Ser104Phe)
|
|
|
NM_130839.5(UBE3A):c.323_324del (p.Ile108fs)
|
rs587780567
|
|
NM_130839.5(UBE3A):c.328A>G (p.Met110Val)
|
rs369853017
|
|
NM_130839.5(UBE3A):c.335dup (p.Lys113fs)
|
rs587780568
|
|
NM_130839.5(UBE3A):c.337_340del (p.Lys113fs)
|
rs587780569
|
|
NM_130839.5(UBE3A):c.339A>G (p.Lys113=)
|
|
|
NM_130839.5(UBE3A):c.342C>A (p.Gly114=)
|
rs142726511
|
|
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr)
|
rs376815580
|
|
NM_130839.5(UBE3A):c.343G>T (p.Ala115Ser)
|
|
|
NM_130839.5(UBE3A):c.345T>G (p.Ala115=)
|
rs1308187741
|
|
NM_130839.5(UBE3A):c.361+14T>C
|
|
|
NM_130839.5(UBE3A):c.362-10G>A
|
|
|
NM_130839.5(UBE3A):c.362-10G>T
|
rs1407383738
|
|
NM_130839.5(UBE3A):c.362-11dup
|
|
|
NM_130839.5(UBE3A):c.362-13T>C
|
|
|
NM_130839.5(UBE3A):c.362-2A>T
|
rs587780578
|
|
NM_130839.5(UBE3A):c.367A>C (p.Thr123Pro)
|
|
|
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala)
|
rs1211073576
|
|
NM_130839.5(UBE3A):c.368C>G (p.Thr123Ser)
|
rs2080325563
|
|
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer)
|
rs587780570
|
|
NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro)
|
rs111033596
|
|
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)
|
rs587781241
|
|
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs)
|
rs587784529
|
|
NM_130839.5(UBE3A):c.387G>A (p.Lys129=)
|
|
|
NM_130839.5(UBE3A):c.390A>G (p.Val130=)
|
|
|
NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter)
|
rs2152823877
|
|
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.402T>A (p.Leu134=)
|
|
|
NM_130839.5(UBE3A):c.406T>C (p.Leu136=)
|
rs1566962877
|
|
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg)
|
rs587782907
|
|
NM_130839.5(UBE3A):c.410G>A (p.Cys137Tyr)
|
rs2080319240
|
|
NM_130839.5(UBE3A):c.422A>T (p.Glu141Val)
|
rs2152823762
|
|
NM_130839.5(UBE3A):c.422_423del (p.Glu141fs)
|
rs587780571
|
|
NM_130839.5(UBE3A):c.425A>C (p.Asp142Ala)
|
rs1595815771
|
|
NM_130839.5(UBE3A):c.435T>C (p.Pro145=)
|
|
|
NM_130839.5(UBE3A):c.440del (p.Ile147fs)
|
rs587784530
|
|
NM_130839.5(UBE3A):c.443G>A (p.Arg148His)
|
rs2080315079
|
|
NM_130839.5(UBE3A):c.444T>G (p.Arg148=)
|
rs1860879871
|
|
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del)
|
rs587784531
|
|
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr)
|
rs111033597
|
|
NM_130839.5(UBE3A):c.454A>G (p.Arg152Gly)
|
rs772621378
|
|
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly)
|
rs587782915
|
|
NM_130839.5(UBE3A):c.459T>C (p.Val153=)
|
|
|
NM_130839.5(UBE3A):c.459T>G (p.Val153=)
|
rs1566962536
|
|
NM_130839.5(UBE3A):c.461T>C (p.Phe154Ser)
|
|
|
NM_130839.5(UBE3A):c.463dup (p.Ser155fs)
|
rs587780572
|
|
NM_130839.5(UBE3A):c.477A>G (p.Ala159=)
|
rs28528079
|
|
NM_130839.5(UBE3A):c.488dup (p.Ser163fs)
|
|
|
NM_130839.5(UBE3A):c.494G>A (p.Arg165Gln)
|
|
|
NM_130839.5(UBE3A):c.558T>C (p.Asp186=)
|
rs1595814554
|
|
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs)
|
rs587784532
|
|
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>A (p.Ala198Thr)
|
rs147145506
|
|
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser)
|
rs147145506
|
|
NM_130839.5(UBE3A):c.603A>G (p.Glu201=)
|
|
|
NM_130839.5(UBE3A):c.607del (p.Asp203fs)
|
rs587780573
|
|
NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro)
|
|
|
NM_130839.5(UBE3A):c.613_614del (p.Glu205fs)
|
|
|
NM_130839.5(UBE3A):c.618A>G (p.Ala206=)
|
rs143484751
|
|
NM_130839.5(UBE3A):c.62+14G>C
|
|
|
NM_130839.5(UBE3A):c.62+1_62+2insAA
|
rs797046084
|
|
NM_130839.5(UBE3A):c.62+20G>A
|
rs587782906
|
|
NM_130839.5(UBE3A):c.62+7G>A
|
rs1440979314
|
|
NM_130839.5(UBE3A):c.62+9A>G
|
rs2153049609
|
|
NM_130839.5(UBE3A):c.624C>T (p.Ser208=)
|
|
|
NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro)
|
|
|
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter)
|
rs1566961418
|
|
NM_130839.5(UBE3A):c.629G>A (p.Arg210Lys)
|
|
|
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.63-19_63-17del
|
rs587782921
|
|
NM_130839.5(UBE3A):c.63-4A>G
|
|
|
NM_130839.5(UBE3A):c.630G>T (p.Arg210Ser)
|
|
|
NM_130839.5(UBE3A):c.633A>G (p.Ile211Met)
|
|
|
NM_130839.5(UBE3A):c.640dup (p.Ser214fs)
|
rs587780574
|
|
NM_130839.5(UBE3A):c.641G>T (p.Ser214Ile)
|
rs2152822939
|
|
NM_130839.5(UBE3A):c.649G>A (p.Gly217Arg)
|
|
|
NM_130839.5(UBE3A):c.651A>G (p.Gly217=)
|
|
|
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.656A>G (p.Asn219Ser)
|
|
|
NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer)
|
|
|
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter)
|
rs1490279918
|
|
NM_130839.5(UBE3A):c.680ATG[1] (p.Asp228del)
|
rs773438461
|
|
NM_130839.5(UBE3A):c.684T>C (p.Asp228=)
|
|
|
NM_130839.5(UBE3A):c.695A>T (p.Asp232Val)
|
rs587780581
|
|
NM_130839.5(UBE3A):c.696T>C (p.Asp232=)
|
rs1057523332
|
|
NM_130839.5(UBE3A):c.699T>C (p.Ile233=)
|
|
|
NM_130839.5(UBE3A):c.704C>T (p.Ala235Val)
|
|
|
NM_130839.5(UBE3A):c.70G>A (p.Ala24Thr)
|
|
|
NM_130839.5(UBE3A):c.718T>C (p.Tyr240His)
|
|
|
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala)
|
|
|
NM_130839.5(UBE3A):c.730C>T (p.Leu244Phe)
|
rs2152822674
|
|
NM_130839.5(UBE3A):c.732C>T (p.Leu244=)
|
rs1060504406
|
|
NM_130839.5(UBE3A):c.736A>G (p.Asn246Asp)
|
|
|
NM_130839.5(UBE3A):c.745A>G (p.Ile249Val)
|
rs951801729
|
|
NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter)
|
rs587780575
|
|
NM_130839.5(UBE3A):c.764A>G (p.Asn255Ser)
|
|
|
NM_130839.5(UBE3A):c.770T>A (p.Leu257His)
|
rs587780582
|
|
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro)
|
rs587780582
|
|
NM_130839.5(UBE3A):c.772G>A (p.Val258Ile)
|
|
|
NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter)
|
rs587780576
|
|
NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter)
|
|
|
NM_130839.5(UBE3A):c.807G>A (p.Thr269=)
|
rs2080268979
|
|
NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter)
|
rs587781190
|
|
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter)
|
rs997044541
|
|
NM_130839.5(UBE3A):c.827G>A (p.Arg276Gln)
|
|
|
NM_130839.5(UBE3A):c.834T>C (p.Pro278=)
|
rs2152822349
|
|
NM_130839.5(UBE3A):c.835A>G (p.Asn279Asp)
|
rs376828905
|
|
NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp)
|
rs587780583
|
|
NM_130839.5(UBE3A):c.853A>G (p.Ile285Val)
|
rs2080263323
|
|
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr)
|
rs1566959617
|
|
NM_130839.5(UBE3A):c.855_857dup (p.Ile286_Val287insIle)
|
|
|
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile)
|
rs1064794579
|
|
NM_130839.5(UBE3A):c.867G>A (p.Glu289=)
|
|
|
NM_130839.5(UBE3A):c.869A>C (p.Asn290Thr)
|
rs587782908
|
|
NM_130839.5(UBE3A):c.873A>C (p.Arg291Ser)
|
|
|
NM_130839.5(UBE3A):c.873A>G (p.Arg291=)
|
rs1213980033
|
|
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly)
|
rs1595810000
|
|
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter)
|
rs587784533
|
|
NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)
|
|
|
NM_130839.5(UBE3A):c.915A>G (p.Leu305=)
|
rs587782923
|
|
NM_130839.5(UBE3A):c.916T>A (p.Phe306Ile)
|
rs2080257342
|
|
NM_130839.5(UBE3A):c.927G>T (p.Ala309=)
|
rs576963061
|
|
NM_130839.5(UBE3A):c.936G>A (p.Lys312=)
|
rs867585000
|
|
NM_130839.5(UBE3A):c.946G>T (p.Ala316Ser)
|
|
|
NM_130839.5(UBE3A):c.954A>G (p.Gln318=)
|
|
|
NM_130839.5(UBE3A):c.959A>G (p.Lys320Arg)
|
|
|
NM_130839.5(UBE3A):c.963G>A (p.Leu321=)
|
|
|
NM_130839.5(UBE3A):c.981A>G (p.Lys327=)
|
rs1555400511
|
|
NM_130839.5(UBE3A):c.984C>T (p.Tyr328=)
|
|
|
NM_130839.5(UBE3A):c.986A>T (p.Asn329Ile)
|
|
|
NM_130839.5(UBE3A):c.993C>A (p.Asp331Glu)
|
|
|
Single allele
|
|
|
UBE3A, 15-BP DEL/7-BP INS, NT3240
|
|
|