基因名 |
突变 |
TRMT61B(NM_017910,tRNA methyltransferase 61 homolog B (S. cerevisiae),477aa) |
g.2:29074141A>G,c.1109T>C,p.L370S |
TRMT61B(NM_017910,tRNA methyltransferase 61 homolog B (S. cerevisiae),477aa) |
g.2:29074129C>T,c.1121G>A,p.R374H |
TRMT61B(NM_017910,tRNA methyltransferase 61 homolog B (S. cerevisiae),477aa) |
g.2:29074121C>T,c.1129G>A,p.E377K |
TRMT61A(NM_152307,tRNA methyltransferase 61 homolog A (S. cerevisiae),289aa) |
g.14:104000953C>T,c.665C>T,p.A222V |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61446483C>T,c.133G>A,p.A45T |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61446147T>A,c.469A>T,p.S157C |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61446081G>T,c.535C>A,p.H179N |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61445981C>T,c.635G>A,p.R212Q |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61445967A>G,c.649T>C,p.S217P |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61445958G>A,c.658C>T,p.H220Y |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61444288T>C,c.736A>G,p.M246V |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61442756T>G,c.881A>C,p.E294A |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61442445C>T,c.1192G>A,p.A398T |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61442354G>A,c.1283C>T,p.A428V |
TRMT5(NM_020810,tRNA methyltransferase 5,509aa) |
g.14:61441876G>A,c.1481C>T,p.T494M |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8477646T>C,c.2192T>C,p.L731P |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8477642G>A,c.2188G>A,p.A730T |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8477562C>T,c.2108C>T,p.P703L |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8477506_8477507insG,c.2052_2053insG,p.684fs |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8472867C>G,c.1984C>G,p.L662V |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8469953G>A,c.1807G>A,p.A603T |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8469935C>T,c.1789C>T,p.R597C |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8469917C>T,c.1771C>T,p.P591S |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8469776C>T,c.1630C>T,p.R544C |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8469757G>C,c.1611G>C,p.W537C |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8467250G>A,c.1456G>A,p.V486M |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8467157A>G,c.1363A>G,p.I455V |
TRMT44(NM_152544,tRNA methyltransferase 44 homolog (S. cerevisiae),757aa) |
g.4:8465736A>G,c.1228A>G,p.K410E |