| 基因名 | 突变 |
|---|---|
| TMOD2(NM_014548,tropomodulin 2 (neuronal),351aa) | g.15:52065939T>C,c.314T>C,p.I105T |
| TMOD2(NM_014548,tropomodulin 2 (neuronal),351aa) | g.15:52060519C>G,c.187C>G,p.P63A |
| TMOD1(NM_003275,tropomodulin 1,359aa) | g.9:100353709A>G,c.1007A>G,p.N336S |
| TMOD1(NM_003275,tropomodulin 1,359aa) | g.9:100328214C>T,c.703C>T,p.R235W |
| TMOD1(NM_003275,tropomodulin 1,359aa) | g.9:100308516C>T,c.170C>T,p.A57V |
| TMOD1(NM_003275,tropomodulin 1,359aa) | g.9:100286484G>A,c.14G>A,p.R5Q |
| TMLHE(NM_018196,trimethyllysine hydroxylase, epsilon,421aa) | g.X:154743837T>A,c.448A>T,p.I150L |
| TMLHE(NM_018196,trimethyllysine hydroxylase, epsilon,421aa) | g.X:154741370C>T,c.722G>A,p.R241Q |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4298318C>T,c.71G>A,p.S24N |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4298228C>T,c.161G>A,p.R54Q |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4298169C>T,c.220G>A,p.G74S |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4298064C>T,c.325G>A,p.A109T |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4298058C>T,c.331G>A,p.V111M |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4294807G>A,c.413C>T,p.P138L |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4294623C>A,c.503G>T,p.W168L |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4294602C>T,c.524G>A,p.R175H |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4292841C>G,c.604G>C,p.A202P |
| TMIGD2(NM_144615,transmembrane and immunoglobulin domain containing 2,282aa) | g.19:4292702G>A,c.743C>T,p.P248L |
| TMIGD1(NM_206832,transmembrane and immunoglobulin domain containing 1,262aa) | g.17:28659082G>A,c.70C>T,p.R24C |
| TMIGD1(NM_206832,transmembrane and immunoglobulin domain containing 1,262aa) | g.17:28656461G>C,c.169C>G,p.Q57E |
| TMIGD1(NM_206832,transmembrane and immunoglobulin domain containing 1,262aa) | g.17:28651987C>T,c.487G>A,p.D163N |
| TMIGD1(NM_206832,transmembrane and immunoglobulin domain containing 1,262aa) | g.17:28651974C>T,c.500G>A,p.S167N |
| TMIGD1(NM_206832,transmembrane and immunoglobulin domain containing 1,262aa) | g.17:28651840C>T,c.634G>A,p.V212I |
| TMIE(NM_147196,transmembrane inner ear,156aa) | g.3:46751098A>G,c.391A>G,p.K131E |
| TMIE(NM_147196,transmembrane inner ear,156aa) | g.3:46751076G>T,c.369G>T,p.K123N |
| TMIE(NM_147196,transmembrane inner ear,156aa) | g.3:46751074_46751076del,c.367_369del,p.123del |
| TMIE(NM_147196,transmembrane inner ear,156aa) | g.3:46751073_46751074insAAG,c.366_367insAAG,p.122_123ins1aa |
| TMIE(NM_147196,transmembrane inner ear,156aa) | g.3:46747361G>A,c.175G>A,p.V59M |