基因名 |
突变 |
USP11(NM_004651,ubiquitin specific peptidase 11,963aa) |
g.X:47106747C>T,c.2594C>T,p.S865L |
USP11(NM_004651,ubiquitin specific peptidase 11,963aa) |
g.X:47092423G>A,c.110G>A,p.C37Y |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84801966T>C,c.2010+2T>C,p.670Donor |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84793502G>A,c.1412G>A,p.R471Q |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84779243C>A,c.1168C>A,p.P390T |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84779154C>T,c.1079C>T,p.P360L |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84778766C>T,c.691C>T,p.P231S |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84778697G>C,c.622G>C,p.V208L |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84778694T>C,c.619T>C,p.S207P |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84778685A>G,c.610A>G,p.M204V |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84778560G>A,c.485G>A,p.G162E |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84778332C>T,c.257C>T,p.T86I |
USP10(NM_001272075,ubiquitin specific peptidase 10,802aa) |
g.16:84767092C>G,c.85C>G,p.P29A |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17375087G>T,c.22C>A,p.P8T |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17374892C>T,c.122G>A,p.S41N |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17373749G>A,c.254C>T,p.P85L |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17373566G>A,c.437C>T,p.P146L |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17373530C>A,c.473G>T,p.G158V |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17373416C>T,c.587G>A,p.R196H |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17370531G>A,c.779C>T,p.S260F |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17370508G>A,c.802C>T,p.R268C |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17370502G>A,c.808C>T,p.R270C |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17370469G>C,c.841C>G,p.L281V |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17370409G>A,c.901C>T,p.R301W |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17369154G>A,c.1087C>T,p.R363W |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17369127C>T,c.1114G>A,p.E372K |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17369106G>T,c.1135C>A,p.Q379K |
USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) |
g.19:17367435T>C,c.1315A>G,p.M439V |