| 基因名 | 突变 |
|---|---|
| RHBDL3(NM_138328,rhomboid, veinlet-like 3 (Drosophila),404aa) | g.17:30625205G>A,c.763G>A,p.V255M |
| RHBDL3(NM_138328,rhomboid, veinlet-like 3 (Drosophila),404aa) | g.17:30621377G>A,c.584G>A,p.R195H |
| RHBDL3(NM_138328,rhomboid, veinlet-like 3 (Drosophila),404aa) | g.17:30615824G>A,c.308G>A,p.R103H |
| RHBDL2(NM_017821,rhomboid, veinlet-like 2 (Drosophila),303aa) | g.1:39384826A>G,c.59T>C,p.M20T |
| RHBDL2(NM_017821,rhomboid, veinlet-like 2 (Drosophila),303aa) | g.1:39377029C>T,c.473G>A,p.R158H |
| RHBDL2(NM_017821,rhomboid, veinlet-like 2 (Drosophila),303aa) | g.1:39353669T>C,c.698A>G,p.Y233C |
| RHBDL2(NM_017821,rhomboid, veinlet-like 2 (Drosophila),303aa) | g.1:39352271G>T,c.817C>A,p.L273M |
| RHBDL1(NM_001278720,rhomboid, veinlet-like 1 (Drosophila),373aa) | g.16:727993G>A,c.1063G>A,p.V355I |
| RHBDL1(NM_001278720,rhomboid, veinlet-like 1 (Drosophila),373aa) | g.16:727298G>A,c.598G>A,p.A200T |
| RHBDL1(NM_001278720,rhomboid, veinlet-like 1 (Drosophila),373aa) | g.16:726850G>A,c.380G>A,p.R127H |
| RHBDL1(NM_001278720,rhomboid, veinlet-like 1 (Drosophila),373aa) | g.16:726829G>A,c.359G>A,p.R120H |
| RHBDL1(NM_001278720,rhomboid, veinlet-like 1 (Drosophila),373aa) | g.16:726672A>G,c.202A>G,p.I68V |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74477579T>G,c.28A>C,p.S10R |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74475975C>A,c.199G>T,p.A67S |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74475884C>T,c.290G>A,p.R97Q |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74475849G>A,c.325C>T,p.R109C |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74475318C>T,c.401G>A,p.G134E |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74475024G>A,c.623C>T,p.P208L |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74474947G>A,c.700C>T,p.R234C |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74474902C>T,c.745G>A,p.A249T |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74473836C>T,c.791G>A,p.R264Q |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74473752G>A,c.875C>T,p.S292F |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74473329C>T,c.940G>A,p.A314T |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74473023C>T,c.1091G>A,p.R364Q |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74472964G>A,c.1150C>T,p.R384C |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74471144C>T,c.1282G>A,p.V428M |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74470194C>A,c.1582G>T,p.D528Y |
| RHBDF2(NM_024599,rhomboid 5 homolog 2 (Drosophila),856aa) | g.17:74469779T>C,c.1771A>G,p.M591V |