| 基因名 | 突变 |
|---|---|
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138946296A>G,c.1204A>G,p.M402V |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138916697G>C,c.467G>C,p.R156P |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138916654G>T,c.424G>T,p.V142L |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138916588C>T,c.358C>T,p.P120S |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4930089T>C,c.3361T>C,p.S1121P |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4927415C>T,c.3295C>T,p.P1099S |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4927067G>A,c.3220G>A,p.V1074I |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4926890G>C,c.3043G>C,p.V1015L |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4924905G>C,c.2494G>C,p.A832P |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4924839G>A,c.2428G>A,p.G810S |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4924378A>G,c.1967A>G,p.N656S |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4924292C>A,c.1881C>A,p.H627Q |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4920335A>G,c.1304A>G,p.Y435C |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4920320G>A,c.1289G>A,p.R430Q |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4920251G>A,c.1220G>A,p.R407H |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4910861C>G,c.868C>G,p.L290V |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4909920A>C,c.622A>C,p.T208P |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4908049C>A,c.308C>A,p.A103D |
| UBN1(NM_016936,ubinuclein 1,1134aa) | g.16:4903033G>C,c.115G>C,p.E39Q |
| UBL7(NM_032907,ubiquitin-like 7 (bone marrow stromal cell-derived),380aa) | g.15:74751139G>C,c.70C>G,p.R24G |
| UBL7(NM_032907,ubiquitin-like 7 (bone marrow stromal cell-derived),380aa) | g.15:74742385C>T,c.556G>A,p.V186I |
| UBL7(NM_032907,ubiquitin-like 7 (bone marrow stromal cell-derived),380aa) | g.15:74742288C>A,c.653G>T,p.R218L |
| UBL7(NM_032907,ubiquitin-like 7 (bone marrow stromal cell-derived),380aa) | g.15:74740892G>A,c.932C>T,p.T311M |
| UBL7(NM_032907,ubiquitin-like 7 (bone marrow stromal cell-derived),380aa) | g.15:74740880T>C,c.944A>G,p.N315S |
| UBL7(NM_032907,ubiquitin-like 7 (bone marrow stromal cell-derived),380aa) | g.15:74738538G>A,c.1036C>T,p.R346C |
| UBL4B(NM_203412,ubiquitin-like 4B,174aa) | g.1:110655484G>A,c.328G>A,p.V110M |
| UBIAD1(NM_013319,UbiA prenyltransferase domain containing 1,338aa) | g.1:11346080G>C,c.909G>C,p.Q303H |
| UBIAD1(NM_013319,UbiA prenyltransferase domain containing 1,338aa) | g.1:11333886T>G,c.298T>G,p.L100V |