| 基因名 | 突变 |
|---|---|
| CLPX(NM_006660,caseinolytic mitochondrial matrix peptidase chaperone subunit,633aa) | g.15:65472527C>G,c.95G>C,p.R32P |
| CLPX(NM_006660,caseinolytic mitochondrial matrix peptidase chaperone subunit,633aa) | g.15:65450109A>C,c.1032T>G,p.N344K |
| CLPX(NM_006660,caseinolytic mitochondrial matrix peptidase chaperone subunit,633aa) | g.15:65447268A>G,c.1463T>C,p.I488T |
| CLPTM1(NM_001294,cleft lip and palate associated transmembrane protein 1,669aa) | g.19:45496031C>T,c.1886C>T,p.T629M |
| CLPTM1(NM_001294,cleft lip and palate associated transmembrane protein 1,669aa) | g.19:45494506G>A,c.1430G>A,p.R477Q |
| CLPTM1(NM_001294,cleft lip and palate associated transmembrane protein 1,669aa) | g.19:45480687C>T,c.556C>T,p.R186C |
| CLPTM1L(NM_030782,CLPTM1-like,538aa) | g.5:1344835T>C,c.122A>G,p.N41S |
| CLPTM1L(NM_030782,CLPTM1-like,538aa) | g.5:1341803C>T,c.436G>A,p.G146R |
| CLPTM1L(NM_030782,CLPTM1-like,538aa) | g.5:1338078C>T,c.619G>A,p.V207M |
| CLPTM1L(NM_030782,CLPTM1-like,538aa) | g.5:1335280G>A,c.688C>T,p.R230C |
| CLPTM1L(NM_030782,CLPTM1-like,538aa) | g.5:1323929T>C,c.1253A>G,p.Y418C |
| CLPTM1L(NM_030782,CLPTM1-like,538aa) | g.5:1318491G>A,c.1610C>T,p.T537M |
| CLPS(NM_001252597,colipase, pancreatic,98aa) | g.6:35762937G>A,c.283C>T,p.R95C |
| CLPSL2(NM_207409,colipase-like 2,100aa) | g.6:35745305G>A,c.154G>A,p.G52S |
| CLPSL1(NM_001010886,colipase-like 1,121aa) | g.6:35755680C>T,c.259C>T,p.R87W |
| CLPSL1(NM_001010886,colipase-like 1,121aa) | g.6:35748931T>C,c.44T>C,p.F15S |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72091352T>C,c.484A>G,p.K162E |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72084037C>T,c.533G>A,p.S178N |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72083967A>G,c.601+2T>C,p.201Donor |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72028249G>A,c.844C>T,p.R282W |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72019648G>A,c.944C>T,p.A315V |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72005689T>A,c.1490A>T,p.E497V |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72005134G>A,c.1672C>T,p.R558C |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72004653G>A,c.1747C>T,p.R583C |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72004649C>T,c.1751G>A,p.R584H |
| CLPB(NM_001258394,ClpB caseinolytic peptidase B homolog (E. coli),662aa) | g.11:72004434C>A,c.1966G>T,p.E656X |
| CLP1(NM_006831,cleavage and polyadenylation factor I subunit 1,425aa) | g.11:57428286G>A,c.656G>A,p.R219Q |
| CLP1(NM_006831,cleavage and polyadenylation factor I subunit 1,425aa) | g.11:57427180C>T,c.232C>T,p.R78C |