基因名 |
突变 |
SYBU(NM_001099744,syntabulin (syntaxin-interacting),663aa) |
g.8:110592151A>G,c.611T>C,p.L204P |
SYBU(NM_001099744,syntabulin (syntaxin-interacting),663aa) |
g.8:110588094G>A,c.1033C>T,p.R345W |
SYBU(NM_001099744,syntabulin (syntaxin-interacting),663aa) |
g.8:110587910G>C,c.1217C>G,p.P406R |
SYBU(NM_001099744,syntabulin (syntaxin-interacting),663aa) |
g.8:110587412C>T,c.1715G>A,p.R572H |
SYAP1(NM_032796,synapse associated protein 1,352aa) |
g.X:16775423G>A,c.922G>A,p.V308I |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185240474A>G,c.2461A>G,p.N821D |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185200711C>T,c.2312C>T,p.T771M |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185191066A>C,c.2207A>C,p.Q736P |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185175856C>A,c.1933C>A,p.L645I |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185175837A>C,c.1914A>C,p.L638F |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185171869A>G,c.1607A>G,p.H536R |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185151179T>G,c.1128T>G,p.H376Q |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185144162C>T,c.883C>T,p.R295W |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185144001G>A,c.722G>A,p.R241H |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185144000C>T,c.721C>T,p.R241C |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185143883G>A,c.604G>A,p.V202I |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185143745A>G,c.466A>G,p.I156V |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185143721A>G,c.442A>G,p.I148V |
SWT1(NM_017673,SWT1 RNA endoribonuclease homolog (S. cerevisiae),900aa) |
g.1:185130019A>G,c.46A>G,p.K16E |
SWSAP1(NM_175871,SWIM-type zinc finger 7 associated protein 1,229aa) |
g.19:11486354C>A,c.352C>A,p.L118I |
SWSAP1(NM_175871,SWIM-type zinc finger 7 associated protein 1,229aa) |
g.19:11485594A>G,c.175A>G,p.M59V |
SWSAP1(NM_175871,SWIM-type zinc finger 7 associated protein 1,229aa) |
g.19:11485438C>T,c.19C>T,p.P7S |
SWI5(NM_001040011,SWI5 recombination repair homolog (yeast),235aa) |
g.9:131038643C>A,c.219C>A,p.N73K |
SWI5(NM_001040011,SWI5 recombination repair homolog (yeast),235aa) |
g.9:131038611A>G,c.187A>G,p.T63A |
SWI5(NM_001040011,SWI5 recombination repair homolog (yeast),235aa) |
g.9:131038575G>C,c.151G>C,p.V51L |
SWI5(NM_001040011,SWI5 recombination repair homolog (yeast),235aa) |
g.9:131038482C>T,c.58C>T,p.R20C |
SWI5(NM_001040011,SWI5 recombination repair homolog (yeast),235aa) |
g.9:131038429A>C,c.5A>C,p.Q2P |
SWAP70(NM_015055,SWAP switching B-cell complex 70kDa subunit,585aa) |
g.11:9769562C>G,c.1513C>G,p.Q505E |