| 基因名 | 突变 |
|---|---|
| PODN(NM_001199080,podocan,642aa) | g.1:53535477C>T,c.37C>T,p.R13C |
| PODN(NM_001199080,podocan,642aa) | g.1:53532535G>C,c.28G>C,p.A10P |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14049013C>T,c.3G>A,p.M1I |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14048774C>T,c.70G>A,p.V24I |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14048728A>G,c.116T>C,p.L39S |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14048714G>A,c.130C>T,p.R44W |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14048699G>A,c.145C>T,p.R49C |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14045165G>A,c.574C>T,p.R192C |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14044752G>A,c.727C>T,p.R243C |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14044158C>T,c.899G>A,p.R300Q |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14044041A>C,c.1016T>G,p.L339R |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14043982G>A,c.1075C>T,p.R359C |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14043879C>T,c.1178G>A,p.R393H |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14043843C>T,c.1214G>A,p.R405H |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14043745G>A,c.1312C>T,p.R438C |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14043629A>C,c.1428T>G,p.H476Q |
| PODNL1(NM_024825,podocan-like 1,512aa) | g.19:14043544C>T,c.1513G>A,p.V505I |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:75008740T>C,c.23A>G,p.Y8C |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:75003678T>C,c.107A>G,p.H36R |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:75001590T>A,c.246A>T,p.E82D |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:75001582A>G,c.254T>C,p.I85T |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74998606G>A,c.337C>T,p.P113S |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74998501C>T,c.442G>A,p.D148N |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74988249C>T,c.767G>A,p.R256Q |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74986317C>T,c.866G>A,p.R289H |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74986308A>G,c.875T>C,p.V292A |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74981300G>A,c.1139C>T,p.S380F |
| POC5(NM_001099271,POC5 centriolar protein,575aa) | g.5:74981187G>C,c.1252C>G,p.P418A |