| 基因名 | 突变 |
|---|---|
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74981153G>A,c.1286C>T,p.A429V |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74981145C>T,c.1294G>A,p.V432I |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74981129G>A,c.1310C>T,p.S437L |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74981103C>T,c.1336G>A,p.A446T |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74981058C>T,c.1381G>A,p.A461T |
| POC1B(NM_172240,POC1 centriolar protein B,478aa) | g.12:89919659G>T,c.14C>A,p.T5K |
| POC1B(NM_172240,POC1 centriolar protein B,478aa) | g.12:89891102T>C,c.118A>G,p.T40A |
| POC1B(NM_172240,POC1 centriolar protein B,478aa) | g.12:89865468C>T,c.599G>A,p.C200Y |
| POC1B(NM_172240,POC1 centriolar protein B,478aa) | g.12:89865413G>C,c.654C>G,p.N218K |
| POC1B(NM_172240,POC1 centriolar protein B,478aa) | g.12:89865394G>C,c.673C>G,p.Q225E |
| POC1B(NM_172240,POC1 centriolar protein B,478aa) | g.12:89864251A>G,c.697T>C,p.C233R |
| POC1B(NM_172240,POC1 centriolar protein B,478aa) | g.12:89819011C>G,c.1259G>C,p.S420T |
| POC1B-GALNT4(NM_001199781,POC1B-GALNT4 readthrough,575aa) | g.12:89917741C>T,c.577G>A,p.V193I |
| POC1B-GALNT4(NM_001199781,POC1B-GALNT4 readthrough,575aa) | g.12:89917518A>G,c.800T>C,p.I267T |
| POC1B-GALNT4(NM_001199781,POC1B-GALNT4 readthrough,575aa) | g.12:89917437C>T,c.881G>A,p.R294Q |
| POC1B-GALNT4(NM_001199781,POC1B-GALNT4 readthrough,575aa) | g.12:89917381C>T,c.937G>A,p.V313I |
| POC1B-GALNT4(NM_001199781,POC1B-GALNT4 readthrough,575aa) | g.12:89916811C>T,c.1507G>A,p.V503I |
| POC1B-GALNT4(NM_001199781,POC1B-GALNT4 readthrough,575aa) | g.12:89916781G>T,c.1537C>A,p.Q513K |
| POC1B-GALNT4(NM_001199781,POC1B-GALNT4 readthrough,575aa) | g.12:89916771G>C,c.1547C>G,p.P516R |
| POC1A(NM_001161581,POC1 centriolar protein A,369aa) | g.3:52181053A>G,c.400T>C,p.W134R |
| POC1A(NM_001161581,POC1 centriolar protein A,369aa) | g.3:52179942G>A,c.485C>T,p.T162M |
| POC1A(NM_001161581,POC1 centriolar protein A,369aa) | g.3:52179931C>T,c.496G>A,p.A166T |
| POC1A(NM_001161581,POC1 centriolar protein A,369aa) | g.3:52179925C>T,c.502G>A,p.G168S |
| POC1A(NM_001161581,POC1 centriolar protein A,369aa) | g.3:52172229C>T,c.655G>A,p.D219N |
| PNRC1(NM_006813,proline-rich nuclear receptor coactivator 1,327aa) | g.6:89793563T>C,c.632T>C,p.I211T |
| PNRC1(NM_006813,proline-rich nuclear receptor coactivator 1,327aa) | g.6:89791068C>T,c.455C>T,p.A152V |
| PNRC1(NM_006813,proline-rich nuclear receptor coactivator 1,327aa) | g.6:89790728C>T,c.115C>T,p.P39S |
| PNPT1(NM_033109,polyribonucleotide nucleotidyltransferase 1,783aa) | g.2:55920837C>G,c.122G>C,p.S41T |