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
|
0.00199
|
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
|
0.00094
|
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.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00007
|
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.1052A>G (p.Asn351Ser)
|
rs747932207
|
0.00005
|
NM_130839.5(UBE3A):c.20+473G>A
|
rs759994828
|
0.00005
|
NM_130839.5(UBE3A):c.43G>A (p.Asp15Asn)
|
rs755226524
|
0.00003
|
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=)
|
rs370142725
|
0.00002
|
NM_130839.5(UBE3A):c.819A>G (p.Val273=)
|
rs370294710
|
0.00002
|
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val)
|
rs751477028
|
0.00001
|
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)
|
rs587780991
|
0.00001
|
NM_130839.5(UBE3A):c.*22_*35del
|
rs573271880
|
|
NM_130839.5(UBE3A):c.1065T>C (p.Ser355=)
|
rs2552191640
|
|
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=)
|
rs1460036615
|
|
NM_130839.5(UBE3A):c.1458G>T (p.Lys486Asn)
|
rs2552191482
|
|
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)
|
rs1064793307
|
|
NM_130839.5(UBE3A):c.1609-8A>G
|
rs2077891986
|
|
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.2376T>C (p.His792=)
|
rs2152515457
|
|
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)
|
rs2552182321
|
|
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs)
|
rs587781225
|
|
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu)
|
rs2074497888
|
|
NM_130839.5(UBE3A):c.2483G>T (p.Gly828Val)
|
rs2074492359
|
|
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs)
|
rs2074302214
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
rs587784527
|
|
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
|
rs2552181678
|
|
NM_130839.5(UBE3A):c.2596del (p.Ala866fs)
|
rs1064797196
|
|
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys)
|
rs1417154910
|
|
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer)
|
rs587780570
|
|
NM_130839.5(UBE3A):c.438A>G (p.Leu146=)
|
|
|
NM_130839.5(UBE3A):c.645A>C (p.Ser215=)
|
rs2552191758
|
|
NM_130839.5(UBE3A):c.675C>A (p.Gly225=)
|
rs1595812490
|
|
NM_130839.5(UBE3A):c.858C>G (p.Ile286Met)
|
rs61740972
|
|
NM_130839.5(UBE3A):c.933C>T (p.Ser311=)
|
rs2552191678
|
|