| 基因名 | 突变 |
|---|---|
| RFTN2(NM_144629,raftlin family member 2,501aa) | g.2:198436779C>T,c.1459G>A,p.G487R |
| RFTN2(NM_144629,raftlin family member 2,501aa) | g.2:198436771A>C,c.1467T>G,p.F489L |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16419576C>T,c.475G>A,p.V159I |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16419521G>A,c.530C>T,p.P177L |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16419327C>T,c.724G>A,p.G242R |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16419309C>T,c.742G>A,p.E248K |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16411736G>A,c.877C>T,p.R293W |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16411634G>A,c.979C>T,p.R327W |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16364954C>T,c.1261G>A,p.V421I |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16364898C>G,c.1317G>C,p.K439N |
| RFTN1(NM_015150,raftlin, lipid raft linker 1,578aa) | g.3:16358693C>A,c.1379G>T,p.R460M |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53164412C>T,c.5G>A,p.G2D |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53164394C>T,c.23G>A,p.G8D |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53159998A>C,c.76T>G,p.L26V |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53157740G>A,c.266C>T,p.T89I |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53155720C>T,c.553G>A,p.A185T |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53153964G>A,c.632C>T,p.T211I |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53133487C>T,c.1118G>A,p.R373H |
| RFT1(NM_052859,RFT1 homolog (S. cerevisiae),541aa) | g.3:53133472T>C,c.1133A>G,p.Y378C |
| RFPL4B(NM_001013734,ret finger protein-like 4B,263aa) | g.6:112671611G>A,c.701G>A,p.G234D |
| RFPL4B(NM_001013734,ret finger protein-like 4B,263aa) | g.6:112671523C>T,c.613C>T,p.R205C |
| RFPL4B(NM_001013734,ret finger protein-like 4B,263aa) | g.6:112671494T>C,c.584T>C,p.L195P |
| RFPL4B(NM_001013734,ret finger protein-like 4B,263aa) | g.6:112671245A>G,c.335A>G,p.N112S |
| RFPL4B(NM_001013734,ret finger protein-like 4B,263aa) | g.6:112671196G>C,c.286G>C,p.D96H |
| RFPL4A(NM_001145014,ret finger protein-like 4A,287aa) | g.19:56274531A>G,c.854A>G,p.E285G |
| RFPL4A(NM_001145014,ret finger protein-like 4A,287aa) | g.19:56274525C>A,c.848C>A,p.S283Y |
| RFPL4A(NM_001145014,ret finger protein-like 4A,287aa) | g.19:56274507C>G,c.830C>G,p.A277G |
| RFPL4A(NM_001145014,ret finger protein-like 4A,287aa) | g.19:56274506G>A,c.829G>A,p.A277T |