NM_130839.5(UBE3A):c.477A>T (p.Ala159=)
|
rs28528079
|
0.03018
|
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)
|
rs61734190
|
0.02311
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
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.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
NM_130839.5(UBE3A):c.1753+32G>A
|
rs373746667
|
0.00006
|
NM_130839.5(UBE3A):c.2499-37dup
|
rs587782913
|
0.00006
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00004
|
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)
|
rs587782910
|
0.00003
|
NM_130839.5(UBE3A):c.361+30G>A
|
rs367646993
|
0.00003
|
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.361+29T>C
|
rs587782914
|
0.00001
|
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser)
|
rs587782922
|
0.00001
|
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=)
|
rs587782926
|
|
NM_130839.5(UBE3A):c.*46del
|
rs368425414
|
|
NM_130839.5(UBE3A):c.1494G>A (p.Met498Ile)
|
rs587782916
|
|
NM_130839.5(UBE3A):c.1608+34T>C
|
rs587782917
|
|
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del)
|
rs587782909
|
|
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.2078T>G (p.Leu693Arg)
|
rs587782920
|
|
NM_130839.5(UBE3A):c.2091T>C (p.Gly697=)
|
rs587782924
|
|
NM_130839.5(UBE3A):c.2124+19T>G
|
rs587782925
|
|
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln)
|
rs761011538
|
|
NM_130839.5(UBE3A):c.2354+20A>G
|
rs587782911
|
|
NM_130839.5(UBE3A):c.2499-31T>G
|
rs587782912
|
|
NM_130839.5(UBE3A):c.2499-40C>T
|
rs373042168
|
|
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg)
|
rs587782907
|
|
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly)
|
rs587782915
|
|
NM_130839.5(UBE3A):c.62+20G>A
|
rs587782906
|
|
NM_130839.5(UBE3A):c.63-19_63-17del
|
rs587782921
|
|
NM_130839.5(UBE3A):c.869A>C (p.Asn290Thr)
|
rs587782908
|
|
NM_130839.5(UBE3A):c.915A>G (p.Leu305=)
|
rs587782923
|
|