| 基因名 | 突变 |
|---|---|
| SFT2D3(NM_032740,SFT2 domain containing 3,215aa) | g.2:128459192G>T,c.90G>T,p.E30D |
| SFT2D3(NM_032740,SFT2 domain containing 3,215aa) | g.2:128459113T>C,c.11T>C,p.L4P |
| SFT2D2(NM_199344,SFT2 domain containing 2,160aa) | g.1:168205991G>T,c.396G>T,p.Q132H |
| SFT2D2(NM_199344,SFT2 domain containing 2,160aa) | g.1:168195335G>C,c.18G>C,p.K6N |
| SFT2D2(NM_199344,SFT2 domain containing 2,160aa) | g.1:168195327C>A,c.10C>A,p.L4M |
| SFT2D1(NM_145169,SFT2 domain containing 1,159aa) | g.6:166755951C>T,c.19G>A,p.V7I |
| SFT2D1(NM_145169,SFT2 domain containing 1,159aa) | g.6:166755933C>G,c.37G>C,p.D13H |
| SFT2D1(NM_145169,SFT2 domain containing 1,159aa) | g.6:166739646T>C,c.325A>G,p.I109V |
| SFT2D1(NM_145169,SFT2 domain containing 1,159aa) | g.6:166738062C>G,c.373G>C,p.V125L |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132283586G>A,c.2878G>A,p.V960I |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132283582G>T,c.2874G>T,p.R958S |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132281899G>A,c.2867G>A,p.R956H |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132281826G>A,c.2794G>A,p.A932T |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132271121G>A,c.2678G>A,p.R893Q |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132269773G>A,c.2564G>A,p.R855K |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132269767C>T,c.2558C>T,p.T853M |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132269646G>A,c.2437G>A,p.A813T |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132262713C>T,c.2246C>T,p.P749L |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132241162A>G,c.1693A>G,p.T565A |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132241156A>G,c.1687A>G,p.S563G |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132241102G>A,c.1633G>A,p.A545T |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132241082A>G,c.1613A>G,p.E538G |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132240013G>A,c.1537G>A,p.D513N |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132240010G>A,c.1534G>A,p.G512S |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132238953G>A,c.1363G>A,p.D455N |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132238932G>A,c.1342G>A,p.A448T |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132237880G>A,c.1294G>A,p.G432R |
| SFSWAP(NM_001261411,splicing factor, suppressor of white-apricot homolog (Drosophila),1003aa) | g.12:132237851C>T,c.1265C>T,p.P422L |