| 基因名 | 突变 |
|---|---|
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1561025C>T,c.4309G>A,p.E1437K |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1560953C>T,c.4381G>A,p.D1461N |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129238472G>A,c.3686G>A,p.R1229H |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129238429G>A,c.3643G>A,p.V1215M |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129238426T>A,c.3640T>A,p.F1214I |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129236314G>A,c.3421G>A,p.V1141M |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129234352C>T,c.3328C>T,p.R1110C |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129233375C>T,c.3284C>T,p.A1095V |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129233368A>G,c.3277A>G,p.I1093V |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129225282C>T,c.2834C>T,p.A945V |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129221676A>T,c.2651A>T,p.D884V |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129214358T>C,c.2269T>C,p.F757L |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129214302G>A,c.2213G>A,p.R738Q |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129207191A>C,c.2096A>C,p.E699A |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129196984C>T,c.1426C>T,p.R476W |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129195600G>A,c.1256G>A,p.S419N |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129195327C>T,c.1139C>T,p.A380V |
| IFT122(NM_052985,intraflagellar transport 122 homolog (Chlamydomonas),1292aa) | g.3:129195166G>T,c.978G>T,p.K326N |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50329885A>T,c.13T>A,p.S5T |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50329744C>T,c.154G>A,p.G52R |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50329729G>T,c.169C>A,p.R57S |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50329659C>T,c.239G>A,p.R80H |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50327845C>G,c.429G>C,p.E143D |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50327642C>T,c.539G>A,p.R180H |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50327010T>C,c.839A>G,p.Y280C |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50326729C>T,c.1034G>A,p.G345D |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50326320T>C,c.1126A>G,p.T376A |
| IFRD2(NM_006764,interferon-related developmental regulator 2,506aa) | g.3:50326292C>T,c.1154G>A,p.R385H |