| 基因名 | 突变 |
|---|---|
| UCN3(NM_053049,urocortin 3,161aa) | g.10:5416059G>A,c.376G>A,p.V126I |
| UCN3(NM_053049,urocortin 3,161aa) | g.10:5415954A>G,c.271A>G,p.R91G |
| UCN3(NM_053049,urocortin 3,161aa) | g.10:5415948G>A,c.265G>A,p.G89R |
| UCN3(NM_053049,urocortin 3,161aa) | g.10:5415856G>A,c.173G>A,p.S58N |
| UCN3(NM_053049,urocortin 3,161aa) | g.10:5415798G>A,c.115G>A,p.A39T |
| UCN2(NM_033199,urocortin 2,112aa) | g.3:48600430G>A,c.128C>T,p.A43V |
| UCN2(NM_033199,urocortin 2,112aa) | g.3:48600230C>T,c.328G>A,p.G110S |
| UCMA(NM_145314,upper zone of growth plate and cartilage matrix associated,138aa) | g.10:13275764A>G,c.95T>C,p.M32T |
| UCMA(NM_145314,upper zone of growth plate and cartilage matrix associated,138aa) | g.10:13264170T>C,c.350A>G,p.E117G |
| UCMA(NM_145314,upper zone of growth plate and cartilage matrix associated,138aa) | g.10:13264162G>A,c.358C>T,p.R120C |
| UCMA(NM_145314,upper zone of growth plate and cartilage matrix associated,138aa) | g.10:13264107G>C,c.413C>G,p.T138S |
| UCKL1(NM_001193379,uridine-cytidine kinase 1-like 1,533aa) | g.20:62577947G>A,c.118C>T,p.R40C |
| UCKL1(NM_001193379,uridine-cytidine kinase 1-like 1,533aa) | g.20:62577932G>A,c.133C>T,p.R45W |
| UCKL1(NM_001193379,uridine-cytidine kinase 1-like 1,533aa) | g.20:62577901G>A,c.164C>T,p.P55L |
| UCKL1(NM_001193379,uridine-cytidine kinase 1-like 1,533aa) | g.20:62577856G>A,c.209C>T,p.P70L |
| UCKL1(NM_001193379,uridine-cytidine kinase 1-like 1,533aa) | g.20:62577253C>T,c.442G>A,p.D148N |
| UCKL1(NM_001193379,uridine-cytidine kinase 1-like 1,533aa) | g.20:62577171C>T,c.524G>A,p.R175Q |
| UCKL1(NM_001193379,uridine-cytidine kinase 1-like 1,533aa) | g.20:62575994C>T,c.703G>A,p.E235K |
| UCK2(NM_012474,uridine-cytidine kinase 2,261aa) | g.1:165859549T>G,c.208T>G,p.S70A |
| UCK1(NM_001261451,uridine-cytidine kinase 1,282aa) | g.9:134406071C>G,c.85G>C,p.E29Q |
| UCK1(NM_001261451,uridine-cytidine kinase 1,282aa) | g.9:134400476A>G,c.800T>C,p.L267P |
| UCHL5(NM_015984,ubiquitin carboxyl-terminal hydrolase L5,329aa) | g.1:192998416G>A,c.458C>T,p.T153M |
| UCHL5(NM_015984,ubiquitin carboxyl-terminal hydrolase L5,329aa) | g.1:192985507C>T,c.964G>A,p.A322T |
| UCHL3(NM_001270952,ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase),194aa) | g.13:76169058G>A,c.374G>A,p.S125N |
| UCHL1(NM_004181,ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase),223aa) | g.4:41263776A>C,c.370A>C,p.M124L |
| UCHL1(NM_004181,ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase),223aa) | g.4:41259633C>A,c.53C>A,p.S18Y |
| UBXN7(NM_015562,UBX domain protein 7,489aa) | g.3:196134172C>T,c.166G>A,p.A56T |
| UBXN7(NM_015562,UBX domain protein 7,489aa) | g.3:196098796T>C,c.586A>G,p.I196V |