基因名 |
突变 |
TROAP(NM_005480,trophinin associated protein,778aa) |
g.12:49719540C>T,c.506C>T,p.A169V |
TROAP(NM_005480,trophinin associated protein,778aa) |
g.12:49717755C>T,c.272C>T,p.P91L |
TRNT1(NM_182916,tRNA nucleotidyl transferase, CCA-adding, 1,434aa) |
g.3:3189779A>G,c.1246A>G,p.K416E |
TRNT1(NM_182916,tRNA nucleotidyl transferase, CCA-adding, 1,434aa) |
g.3:3179126A>G,c.331A>G,p.I111V |
TRNT1(NM_182916,tRNA nucleotidyl transferase, CCA-adding, 1,434aa) |
g.3:3170792C>T,c.68C>T,p.P23L |
TRNP1(NM_001013642,TMF1-regulated nuclear protein 1,227aa) |
g.1:27320356T>C,c.79T>C,p.W27R |
TRNAU1AP(NM_017846,tRNA selenocysteine 1 associated protein 1,287aa) |
g.1:28891223A>T,c.287A>T,p.Y96F |
TRNAU1AP(NM_017846,tRNA selenocysteine 1 associated protein 1,287aa) |
g.1:28880201T>C,c.77T>C,p.M26T |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46752830G>A,c.1193G>A,p.R398H |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46752829C>T,c.1192C>T,p.R398C |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46752800C>T,c.1163C>T,p.P388L |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46752791G>A,c.1154G>A,p.R385Q |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46752777_46752778insG,c.1140_1141insG,p.380fs |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46752763G>A,c.1126G>A,p.E376K |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46752755_46752756insG,c.1118_1119insG,p.373fs |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46751468G>A,c.1001G>A,p.R334H |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46751377C>G,c.910C>G,p.L304V |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46749744G>A,c.853G>A,p.V285I |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46742405G>A,c.442G>A,p.E148K |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46739182A>G,c.272A>G,p.K91R |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46731736G>T,c.75G>T,p.R25S |
TRMU(NM_018006,tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase,421aa) |
g.22:46731689G>T,c.28G>T,p.A10S |
TRMT6(NM_015939,tRNA methyltransferase 6 homolog (S. cerevisiae),497aa) |
g.20:5927070_5927072del,c.236_238del,p.79_80del |
TRMT6(NM_015939,tRNA methyltransferase 6 homolog (S. cerevisiae),497aa) |
g.20:5923223C>T,c.877G>A,p.E293K |
TRMT6(NM_015939,tRNA methyltransferase 6 homolog (S. cerevisiae),497aa) |
g.20:5923204T>C,c.896A>G,p.E299G |
TRMT6(NM_015939,tRNA methyltransferase 6 homolog (S. cerevisiae),497aa) |
g.20:5923203_5923204TT>CC,c.896_897AA>GG,p.K299G |
TRMT61B(NM_017910,tRNA methyltransferase 61 homolog B (S. cerevisiae),477aa) |
g.2:29093127C>A,c.17G>T,p.C6F |
TRMT61B(NM_017910,tRNA methyltransferase 61 homolog B (S. cerevisiae),477aa) |
g.2:29084160G>A,c.817C>T,p.R273X |