| 基因名 | 突变 |
|---|---|
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50953885C>T,c.1435G>A,p.E479K |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50952101C>G,c.1800G>C,p.M600I |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50950997G>A,c.1889C>T,p.A630V |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50950976G>A,c.1910C>T,p.T637M |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50947852T>C,c.2174A>G,p.N725S |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50944528C>A,c.2629G>T,p.A877S |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50944449C>A,c.2708G>T,p.S903I |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50944414G>A,c.2743C>T,p.R915C |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50944172C>T,c.2806G>A,p.G936S |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13781899G>A,c.2524G>A,p.G842R |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13779204G>A,c.2261G>A,p.G754D |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13778509C>T,c.1930C>T,p.R644C |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13764946del,c.702del,p.234fs |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13764918del,c.674del,p.225fs |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13762572C>T,c.451C>T,p.H151Y |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13757146del,c.407del,p.136fs |
| OFD1(NM_003611,oral-facial-digital syndrome 1,1012aa) | g.X:13753414_13753415insA,c.60_61insA,p.20fs |
| ODF4(NM_153007,outer dense fiber of sperm tails 4,257aa) | g.17:8248992del,c.596del,p.199fs |
| ODF4(NM_153007,outer dense fiber of sperm tails 4,257aa) | g.17:8243785A>G,c.416A>G,p.Y139C |
| ODF4(NM_153007,outer dense fiber of sperm tails 4,257aa) | g.17:8243661G>A,c.292G>A,p.V98M |
| ODF4(NM_153007,outer dense fiber of sperm tails 4,257aa) | g.17:8243598C>T,c.229C>T,p.R77C |
| ODF4(NM_153007,outer dense fiber of sperm tails 4,257aa) | g.17:8243469T>C,c.100T>C,p.W34R |
| ODF4(NM_153007,outer dense fiber of sperm tails 4,257aa) | g.17:8243449G>A,c.80G>A,p.R27K |
| ODF3(NM_053280,outer dense fiber of sperm tails 3,254aa) | g.11:199492G>A,c.658G>A,p.A220T |
| ODF3(NM_053280,outer dense fiber of sperm tails 3,254aa) | g.11:199448G>C,c.614G>C,p.R205P |
| ODF3(NM_053280,outer dense fiber of sperm tails 3,254aa) | g.11:199402G>A,c.568G>A,p.V190M |
| ODF3(NM_053280,outer dense fiber of sperm tails 3,254aa) | g.11:199381G>A,c.547G>A,p.A183T |
| ODF3(NM_053280,outer dense fiber of sperm tails 3,254aa) | g.11:198574G>A,c.523G>A,p.D175N |