| 基因名 | 突变 |
|---|---|
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825321G>A,c.575G>A,p.R192H |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825048G>C,c.484G>C,p.G162R |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1823740G>T,c.282G>T,p.M94I |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1823390del,c.162del,p.54fs |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1823331G>A,c.103G>A,p.D35N |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48458188G>A,c.1640G>A,p.R547H |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48458184C>T,c.1636C>T,p.R546C |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48457722G>C,c.1435G>C,p.A479P |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48456849G>A,c.1306G>A,p.A436T |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48456520A>C,c.1204A>C,p.K402Q |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48456496C>T,c.1180C>T,p.Q394X |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48456193T>C,c.1049T>C,p.I350T |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48456028G>A,c.976G>A,p.D326N |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48456002G>A,c.950G>A,p.R317Q |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48453496T>C,c.845T>C,p.I282T |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48453203G>A,c.634G>A,p.G212R |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48453136T>A,c.567T>A,p.N189K |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452982C>A,c.413C>A,p.P138H |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452978A>C,c.409A>C,p.K137Q |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452978_48452979insAGC,c.409_410insAGC,p.137ins1aa |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452909G>A,c.340G>A,p.D114N |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452900A>G,c.331A>G,p.S111G |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452776A>C,c.207A>C,p.E69D |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452756T>C,c.187T>C,p.F63L |
| EME1(NM_001166131,essential meiotic structure-specific endonuclease 1,583aa) | g.17:48452584G>T,c.15G>T,p.K5N |
| EMD(NM_000117,emerin,254aa) | g.X:153609246C>T,c.454C>T,p.R152C |
| EMD(NM_000117,emerin,254aa) | g.X:153609158G>C,c.445G>C,p.D149H |
| EMCN(NM_016242,endomucin,261aa) | g.4:101439070A>G,c.2T>C,p.M1T |