| 基因名 | 突变 |
|---|---|
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25314279_25314282del,c.2127_2130del,p.709fs |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25314128C>T,c.1976C>T,p.P659L |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25314127C>T,c.1975C>T,p.P659S |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25313575C>T,c.1423C>T,p.R475X |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25313433T>A,c.1281T>A,p.N427K |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25313348A>G,c.1196A>G,p.Q399R |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25313254C>A,c.1102C>A,p.P368T |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25312895C>A,c.743C>A,p.A248E |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25312868C>G,c.716C>G,p.P239R |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25312571C>T,c.419C>T,p.A140V |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25312271C>T,c.119C>T,p.A40V |
| THNSL1(NM_024838,threonine synthase-like 1 (S. cerevisiae),743aa) | g.10:25312168C>T,c.16C>T,p.R6X |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2193012G>A,c.5C>T,p.P2L |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2192950C>T,c.67G>A,p.A23T |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2191997C>T,c.106G>A,p.A36T |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2191040G>A,c.245C>T,p.A82V |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2190951C>T,c.334G>A,p.V112M |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2189843C>T,c.458G>A,p.R153Q |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2189135C>T,c.698G>A,p.R233H |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2189113G>C,c.720C>G,p.I240M |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2188707G>A,c.746C>T,p.P249L |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2188164C>T,c.887G>A,p.R296Q |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2185609G>A,c.1441C>T,p.R481C |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2185555C>T,c.1495G>A,p.V499M |
| TH(NM_199292,tyrosine hydroxylase,528aa) | g.11:2185483C>A,c.1567G>T,p.A523S |
| THG1L(NM_017872,tRNA-histidine guanylyltransferase 1-like (S. cerevisiae),298aa) | g.5:157164962T>C,c.695T>C,p.L232P |
| THG1L(NM_017872,tRNA-histidine guanylyltransferase 1-like (S. cerevisiae),298aa) | g.5:157164947A>G,c.680A>G,p.N227S |
| THG1L(NM_017872,tRNA-histidine guanylyltransferase 1-like (S. cerevisiae),298aa) | g.5:157164939C>G,c.672C>G,p.F224L |