| 基因名 | 突变 |
|---|---|
| TTYH3(NM_025250,tweety family member 3,523aa) | g.7:2689593T>A,c.842T>A,p.M281K |
| TTYH3(NM_025250,tweety family member 3,523aa) | g.7:2686634A>G,c.271A>G,p.I91V |
| TTYH3(NM_025250,tweety family member 3,523aa) | g.7:2671862T>G,c.73T>G,p.W25G |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72256305C>T,c.1562C>T,p.A521V |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72249949G>A,c.1501G>A,p.G501R |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72249389C>A,c.1429C>A,p.P477T |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72249276G>A,c.1316G>A,p.R439H |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72249229C>A,c.1269C>A,p.D423E |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72248512C>T,c.1256C>T,p.T419I |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72248482C>A,c.1226C>A,p.A409E |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72240177T>G,c.793T>G,p.S265A |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72240168G>A,c.784G>A,p.A262T |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72239587G>A,c.710G>A,p.R237H |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72239586C>T,c.709C>T,p.R237C |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72233605T>C,c.587T>C,p.M196T |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72233575C>T,c.557C>T,p.S186L |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72233559G>A,c.541G>A,p.V181I |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72233549G>A,c.531G>A,p.M177I |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72233485G>A,c.467G>A,p.R156Q |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72233484C>T,c.466C>T,p.R156W |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72227040G>A,c.316G>A,p.V106I |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72218774G>A,c.280G>A,p.V94M |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72218654G>A,c.160G>A,p.V54I |
| TTYH2(NM_032646,tweety family member 2,534aa) | g.17:72218651G>A,c.157G>A,p.A53T |
| TTYH1(NM_001201461,tweety family member 1,451aa) | g.19:54946741G>A,c.1145G>A,p.R382Q |
| TTYH1(NM_001201461,tweety family member 1,451aa) | g.19:54942015C>G,c.964C>G,p.L322V |
| TTYH1(NM_001201461,tweety family member 1,451aa) | g.19:54940513G>A,c.763G>A,p.V255I |
| TTYH1(NM_001201461,tweety family member 1,451aa) | g.19:54933473G>A,c.527G>A,p.R176Q |