| 基因名 | 突变 |
|---|---|
| UFSP2(NM_018359,UFM1-specific peptidase 2,469aa) | g.4:186339821T>C,c.186A>G,p.I62M |
| UFSP2(NM_018359,UFM1-specific peptidase 2,469aa) | g.4:186339620T>C,c.308A>G,p.K103R |
| UFSP2(NM_018359,UFM1-specific peptidase 2,469aa) | g.4:186336953A>C,c.402T>G,p.I134M |
| UFSP2(NM_018359,UFM1-specific peptidase 2,469aa) | g.4:186336375T>G,c.618A>C,p.K206N |
| UFSP2(NM_018359,UFM1-specific peptidase 2,469aa) | g.4:186335007T>C,c.704A>G,p.N235S |
| UFSP2(NM_018359,UFM1-specific peptidase 2,469aa) | g.4:186329175C>T,c.1036G>A,p.G346R |
| UFSP1(NM_001015072,UFM1-specific peptidase 1 (non-functional),142aa) | g.7:100486754G>C,c.139C>G,p.L47V |
| UFSP1(NM_001015072,UFM1-specific peptidase 1 (non-functional),142aa) | g.7:100486697del,c.196del,p.66fs |
| UFSP1(NM_001015072,UFM1-specific peptidase 1 (non-functional),142aa) | g.7:100486464T>G,c.429A>C,p.X143C |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:97001167C>T,c.2173C>T,p.H725Y |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:97000378G>A,c.2006G>A,p.R669Q |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:96999722A>C,c.1908A>C,p.E636D |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:96997320G>A,c.1553G>A,p.R518H |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:96996133C>T,c.1496C>T,p.S499L |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:96990826A>T,c.1336A>T,p.K446X |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:96988480G>A,c.1228G>A,p.V410I |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:96974255G>T,c.409G>T,p.V137F |
| UFL1(NM_015323,UFM1-specific ligase 1,794aa) | g.6:96974210C>T,c.364C>T,p.R122W |
| UFD1L(NM_005659,ubiquitin fusion degradation 1 like (yeast),307aa) | g.22:19455430G>C,c.388C>G,p.P130A |
| UEVLD(NM_001040697,UEV and lactate/malate dehyrogenase domains,471aa) | g.11:18610185T>C,c.17A>G,p.E6G |
| UEVLD(NM_001040697,UEV and lactate/malate dehyrogenase domains,471aa) | g.11:18600283T>C,c.115A>G,p.M39V |
| UEVLD(NM_001040697,UEV and lactate/malate dehyrogenase domains,471aa) | g.11:18568451C>T,c.862G>A,p.V288I |
| UEVLD(NM_001040697,UEV and lactate/malate dehyrogenase domains,471aa) | g.11:18553921T>A,c.1362A>T,p.K454N |
| UCP3(NM_003356,uncoupling protein 3 (mitochondrial, proton carrier),312aa) | g.11:73718063C>T,c.25G>A,p.V9M |
| UCP3(NM_003356,uncoupling protein 3 (mitochondrial, proton carrier),312aa) | g.11:73717970G>A,c.118C>T,p.R40C |
| UCP3(NM_003356,uncoupling protein 3 (mitochondrial, proton carrier),312aa) | g.11:73717396G>A,c.155C>T,p.T52M |
| UCP3(NM_003356,uncoupling protein 3 (mitochondrial, proton carrier),312aa) | g.11:73717343G>A,c.208C>T,p.R70W |
| UCP3(NM_003356,uncoupling protein 3 (mitochondrial, proton carrier),312aa) | g.11:73717342C>T,c.209G>A,p.R70Q |