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.2281-20A>G
|
rs376920758
|
0.00009
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=)
|
rs760397761
|
0.00004
|
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=)
|
rs1057520481
|
0.00003
|
NM_130839.5(UBE3A):c.1959+11T>A
|
rs771390878
|
0.00003
|
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)
|
rs587782910
|
0.00003
|
NM_130839.5(UBE3A):c.141G>A (p.Thr47=)
|
rs760283316
|
0.00002
|
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=)
|
rs1057520392
|
0.00001
|
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)
|
rs371296838
|
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.21A>G (p.Arg7=)
|
rs752810430
|
0.00001
|
NM_130839.5(UBE3A):c.2280+17C>T
|
rs767903684
|
0.00001
|
NM_130839.5(UBE3A):c.2281-12T>C
|
rs1297457627
|
0.00001
|
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=)
|
rs767254317
|
0.00001
|
NM_130839.5(UBE3A):c.507A>G (p.Gln169=)
|
rs1555401033
|
0.00001
|
NM_130839.5(UBE3A):c.939A>G (p.Leu313=)
|
rs762154663
|
0.00001
|
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=)
|
rs1555400103
|
|
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=)
|
rs878855201
|
|
NM_130839.5(UBE3A):c.1599A>G (p.Ala533=)
|
rs1447040234
|
|
NM_130839.5(UBE3A):c.1609-20dup
|
rs779671805
|
|
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)
|
rs1057523671
|
|
NM_130839.5(UBE3A):c.1753+20del
|
rs1161685208
|
|
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp)
|
rs587784523
|
|
NM_130839.5(UBE3A):c.2226C>G (p.Pro742=)
|
rs1555389825
|
|
NM_130839.5(UBE3A):c.2280G>C (p.Arg760=)
|
rs587784525
|
|
NM_130839.5(UBE3A):c.2281-15T>C
|
rs767720713
|
|
NM_130839.5(UBE3A):c.2499-5_2499-2del
|
rs1555379927
|
|
NM_130839.5(UBE3A):c.328A>G (p.Met110Val)
|
rs369853017
|
|
NM_130839.5(UBE3A):c.342C>A (p.Gly114=)
|
rs142726511
|
|
NM_130839.5(UBE3A):c.361+18C>G
|
rs773112531
|
|
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506
|
|
NM_130839.5(UBE3A):c.696T>C (p.Asp232=)
|
rs1057523332
|
|
NM_130839.5(UBE3A):c.936G>A (p.Lys312=)
|
rs867585000
|
|