| 基因名 | 突变 |
|---|---|
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119057211C>T,c.142C>T,p.R48C |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119056645A>G,c.28A>G,p.T10A |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32098653C>T,c.8131C>T,p.P2711S |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32097485C>T,c.7946C>T,p.T2649M |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32091256C>T,c.7702C>T,p.P2568S |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32091151G>A,c.7597G>A,p.E2533K |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32090983G>A,c.7429G>A,p.V2477M |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32090660T>C,c.7106T>C,p.I2369T |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32090602C>T,c.7048C>T,p.R2350W |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32090312T>C,c.6758T>C,p.V2253A |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32090294G>A,c.6740G>A,p.R2247Q |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32090028G>A,c.6474G>A,p.M2158I |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32089870G>A,c.6316G>A,p.G2106S |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32089831G>A,c.6277G>A,p.V2093M |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32089801C>T,c.6247C>T,p.R2083C |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32089487G>A,c.5933G>A,p.S1978N |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32089484C>T,c.5930C>T,p.T1977M |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32089257_32089265del,c.5703_5711del,p.1901_1904del |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32089045G>A,c.5491G>A,p.D1831N |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32088968T>G,c.5414T>G,p.I1805R |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32088875A>T,c.5321A>T,p.N1774I |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32088587C>T,c.5033C>T,p.T1678I |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32088500C>T,c.4946C>T,p.A1649V |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32088389C>G,c.4835C>G,p.S1612W |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32088280G>A,c.4726G>A,p.G1576S |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32088073A>G,c.4519A>G,p.I1507V |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32087966G>A,c.4412G>A,p.R1471H |
| PDZD2(NM_178140,PDZ domain containing 2,2839aa) | g.5:32087941G>A,c.4387G>A,p.G1463R |