| 基因名 | 突变 |
|---|---|
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34861193G>T,c.508C>A,p.Q170K |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34861111G>A,c.590C>T,p.T197M |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34860839T>C,c.862A>G,p.T288A |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34860833T>G,c.868A>C,p.K290Q |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34860752_34860756del,c.945_949del,p.315fs |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34860750_34860754del,c.947_951del,p.316fs |
| DNAJC27(NM_016544,DnaJ (Hsp40) homolog, subfamily C, member 27,273aa) | g.2:25194771C>T,c.3G>A,p.M1I |
| DNAJC27(NM_016544,DnaJ (Hsp40) homolog, subfamily C, member 27,273aa) | g.2:25190126C>T,c.124G>A,p.V42M |
| DNAJC25-GNG10(NM_004125,DNAJC25-GNG10 readthrough,153aa) | g.9:114393784G>A,c.97G>A,p.V33M |
| DNAJC24(NM_181706,DnaJ (Hsp40) homolog, subfamily C, member 24,149aa) | g.11:31392400A>G,c.105A>G,p.I35M |
| DNAJC22(NM_024902,DnaJ (Hsp40) homolog, subfamily C, member 22,341aa) | g.12:49743437C>T,c.782C>T,p.A261V |
| DNAJC22(NM_024902,DnaJ (Hsp40) homolog, subfamily C, member 22,341aa) | g.12:49743397G>A,c.742G>A,p.G248R |
| DNAJC22(NM_024902,DnaJ (Hsp40) homolog, subfamily C, member 22,341aa) | g.12:49743384G>A,c.729G>A,p.W243X |
| DNAJC22(NM_024902,DnaJ (Hsp40) homolog, subfamily C, member 22,341aa) | g.12:49743206G>A,c.551G>A,p.R184H |
| DNAJC22(NM_024902,DnaJ (Hsp40) homolog, subfamily C, member 22,341aa) | g.12:49743142G>A,c.487G>A,p.A163T |
| DNAJC22(NM_024902,DnaJ (Hsp40) homolog, subfamily C, member 22,341aa) | g.12:49743098G>A,c.443G>A,p.R148H |
| DNAJC22(NM_024902,DnaJ (Hsp40) homolog, subfamily C, member 22,341aa) | g.12:49742983C>T,c.328C>T,p.L110F |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34954770A>G,c.1682A>G,p.N561S |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34950404G>A,c.1450G>A,p.E484K |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34949711T>C,c.1249T>C,p.C417R |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34945012G>A,c.1024G>A,p.V342M |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34939040G>A,c.821G>A,p.R274Q |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34937510G>A,c.518G>A,p.R173Q |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34936303G>C,c.370G>C,p.E124Q |
| DNAJC21(NM_194283,DnaJ (Hsp40) homolog, subfamily C, member 21,576aa) | g.5:34936259C>T,c.326C>T,p.T109M |
| DNAJC1(NM_022365,DnaJ (Hsp40) homolog, subfamily C, member 1,554aa) | g.10:22209885C>T,c.379G>A,p.D127N |
| DNAJC1(NM_022365,DnaJ (Hsp40) homolog, subfamily C, member 1,554aa) | g.10:22193511C>T,c.760G>A,p.E254K |
| DNAJC1(NM_022365,DnaJ (Hsp40) homolog, subfamily C, member 1,554aa) | g.10:22048296G>A,c.1399C>T,p.R467W |