基因名 |
突变 |
TMIE(NM_147196,transmembrane inner ear,156aa) |
g.3:46747308C>T,c.122C>T,p.P41L |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69101216G>T,c.22C>A,p.Q8K |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69097632A>G,c.224T>C,p.I75T |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69097599C>T,c.257G>A,p.R86Q |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69097297T>C,c.559A>G,p.M187V |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69096928A>T,c.928T>A,p.F310I |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69088066C>T,c.1922G>A,p.R641H |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69088016C>T,c.1972G>A,p.A658T |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69087821T>C,c.2045A>G,p.Q682R |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69087804G>A,c.2062C>T,p.R688C |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69082833C>T,c.2267G>A,p.R756Q |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69082708C>G,c.2392G>C,p.D798H |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69079051G>T,c.2509C>A,p.L837I |
TMF1(NM_007114,TATA element modulatory factor 1,1093aa) |
g.3:69075245G>A,c.2761C>T,p.R921C |
TMEM9(NM_016456,transmembrane protein 9,183aa) |
g.1:201104936C>T,c.407G>A,p.R136H |
TMEM9B(NM_020644,TMEM9 domain family, member B,198aa) |
g.11:8985835A>G,c.26T>C,p.L9P |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38991397C>T,c.629C>T,p.A210V |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38991279G>A,c.511G>A,p.A171T |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38991257G>A,c.489G>A,p.W163X |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38991082C>T,c.314C>T,p.S105L |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38991052T>G,c.284T>G,p.L95R |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38991003T>C,c.235T>C,p.Y79H |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38990851C>T,c.83C>T,p.T28I |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38990841G>C,c.73G>C,p.V25L |
TMEM99(NM_001195386,transmembrane protein 99,258aa) |
g.17:38990780C>G,c.12C>G,p.I4M |
TMEM98(NM_015544,transmembrane protein 98,226aa) |
g.17:31267940G>A,c.610G>A,p.A204T |
TMEM98(NM_015544,transmembrane protein 98,226aa) |
g.17:31266513G>T,c.432G>T,p.K144N |
TMEM98(NM_015544,transmembrane protein 98,226aa) |
g.17:31260262G>A,c.202G>A,p.V68I |