| 基因名 | 突变 |
|---|---|
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304268G>A,c.800C>T,p.T267I |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304158C>T,c.910G>A,p.G304R |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3299718C>T,c.973G>A,p.G325S |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3299705C>T,c.986G>A,p.R329H |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3299648C>T,c.1043G>A,p.R348H |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3299631G>A,c.1060C>T,p.R354W |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3299586G>A,c.1105C>T,p.P369S |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3299468C>T,c.1223G>A,p.R408Q |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3297100G>A,c.1503C>T,p.R501R |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293880A>G,c.1772T>C,p.I591T |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293405C>T,c.2082G>A,p.M694I |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293403T>C,c.2084A>G,p.K695R |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293323C>T,c.2164G>A,p.V722M |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293310A>G,c.2177T>C,p.V726A |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293262G>C,c.2225C>G,p.T742R |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293258G>C,c.2229C>G,p.F743L |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293224T>C,c.2263A>G,p.I755V |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293205C>T,c.2282G>A,p.R761H |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293195C>A,c.2292G>T,p.G764G |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3293150C>G,c.2337G>C,p.G779G |
| MEF2D(NM_005920,myocyte enhancer factor 2D,521aa) | g.1:156438039G>A,c.1300C>T,p.P434S |
| MEF2D(NM_005920,myocyte enhancer factor 2D,521aa) | g.1:156437912C>A,c.1427G>T,p.G476V |
| MEF2B(NM_001145785,myocyte enhancer factor 2B,368aa) | g.19:19256794G>T,c.919C>A,p.R307S |
| MEF2BNB(NM_001145783,MEF2B neighbor,109aa) | g.19:19293488C>T,c.220G>A,p.V74M |
| MEF2A(NM_001171894,myocyte enhancer factor 2A,497aa) | g.15:100252893A>G,c.1411A>G,p.I471V |
| MEF2A(NM_001171894,myocyte enhancer factor 2A,497aa) | g.15:100252738A>C,c.1256A>C,p.Q419P |
| MEF2A(NM_001171894,myocyte enhancer factor 2A,497aa) | g.15:100252710_100252715del,c.1228_1233del,p.410_411del |
| MEF2A(NM_001171894,myocyte enhancer factor 2A,497aa) | g.15:100252710_100252712del,c.1228_1230del,p.410del |