| 基因名 | 突变 |
|---|---|
| CTTNBP2NL(NM_018704,CTTNBP2 N-terminal like,639aa) | g.1:112998890G>A,c.776G>A,p.R259Q |
| CTTNBP2NL(NM_018704,CTTNBP2 N-terminal like,639aa) | g.1:112998769G>A,c.655G>A,p.E219K |
| CTTNBP2NL(NM_018704,CTTNBP2 N-terminal like,639aa) | g.1:112998755T>C,c.641T>C,p.V214A |
| CTTNBP2NL(NM_018704,CTTNBP2 N-terminal like,639aa) | g.1:112997141A>G,c.401A>G,p.Y134C |
| CTSZ(NM_001336,cathepsin Z,303aa) | g.20:57572709A>G,c.587T>C,p.L196P |
| CTSZ(NM_001336,cathepsin Z,303aa) | g.20:57570790C>T,c.826G>A,p.V276M |
| CTSW(NM_001335,cathepsin W,376aa) | g.11:65651040C>A,c.1082C>A,p.A361D |
| CTSW(NM_001335,cathepsin W,376aa) | g.11:65650978G>C,c.1021-1G>C,p.341Acceptor |
| CTSW(NM_001335,cathepsin W,376aa) | g.11:65650250G>A,c.620G>A,p.S207N |
| CTSW(NM_001335,cathepsin W,376aa) | g.11:65650149T>A,c.608T>A,p.V203D |
| CTSW(NM_001335,cathepsin W,376aa) | g.11:65649774A>G,c.415A>G,p.S139G |
| CTSW(NM_001335,cathepsin W,376aa) | g.11:65648889C>T,c.184C>T,p.R62C |
| CTSV(NM_001333,cathepsin V,334aa) | g.9:99800202C>T,c.124G>A,p.A42T |
| CTSV(NM_001333,cathepsin V,334aa) | g.9:99798969G>A,c.457C>T,p.R153W |
| CTSV(NM_001333,cathepsin V,334aa) | g.9:99797912C>T,c.685G>A,p.A229T |
| CTSV(NM_001333,cathepsin V,334aa) | g.9:99797908G>A,c.689C>T,p.P230L |
| CTSV(NM_001333,cathepsin V,334aa) | g.9:99797839C>A,c.758G>T,p.G253V |
| CTSS(NM_004079,cathepsin S,331aa) | g.1:150737220A>G,c.20T>C,p.V7A |
| CTSS(NM_004079,cathepsin S,331aa) | g.1:150727539G>A,c.337C>T,p.R113W |
| CTSS(NM_004079,cathepsin S,331aa) | g.1:150722511C>T,c.764G>A,p.R255H |
| CTSS(NM_004079,cathepsin S,331aa) | g.1:150705586C>T,c.932G>A,p.R311Q |
| CTSO(NM_001334,cathepsin O,321aa) | g.4:156864359C>T,c.193G>A,p.A65T |
| CTSO(NM_001334,cathepsin O,321aa) | g.4:156863469C>T,c.384G>A,p.M128I |
| CTSO(NM_001334,cathepsin O,321aa) | g.4:156847222C>T,c.932G>A,p.G311D |
| CTSO(NM_001334,cathepsin O,321aa) | g.4:156847208C>T,c.946G>A,p.V316I |
| CTSL(NM_001912,cathepsin L,333aa) | g.9:90344492A>G,c.626A>G,p.E209G |
| CTSL(NM_001912,cathepsin L,333aa) | g.9:90343265C>A,c.350C>A,p.S117Y |
| CTSL(NM_001912,cathepsin L,333aa) | g.9:90342981A>G,c.166A>G,p.M56V |