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.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)
|
rs150331504
|
0.00054
|
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)
|
rs371154816
|
0.00009
|
NM_130839.5(UBE3A):c.1728G>A (p.Val576=)
|
rs749731066
|
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.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.1965A>G (p.Leu655=)
|
rs371296838
|
0.00001
|
NM_130839.5(UBE3A):c.20+7T>C
|
rs771812460
|
0.00001
|
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=)
|
rs587782926
|
|
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter)
|
rs886043612
|
|
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs)
|
rs398124438
|
|
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs)
|
rs794727738
|
|
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu)
|
rs398124439
|
|
NM_130839.5(UBE3A):c.2134A>C (p.Asn712His)
|
rs1555389918
|
|
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs)
|
rs398124440
|
|
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)
|
rs863225070
|
|
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)
|
rs587784528
|
|
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala)
|
rs1211073576
|
|
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs)
|
rs786200996
|
|
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506
|
|
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.948_950del (p.Ala317del)
|
rs398124441
|
|