| 基因名 | 突变 |
|---|---|
| DNASE1L2(NM_001374,deoxyribonuclease I-like 2,299aa) | g.16:2287265C>T,c.280C>T,p.R94W |
| DNASE1L2(NM_001374,deoxyribonuclease I-like 2,299aa) | g.16:2286876C>A,c.59C>A,p.A20D |
| DNASE1L1(NM_006730,deoxyribonuclease I-like 1,302aa) | g.X:153631911C>T,c.364G>A,p.V122I |
| DNALI1(NM_003462,dynein, axonemal, light intermediate chain 1,280aa) | g.1:38027796A>C,c.757A>C,p.K253Q |
| DNALI1(NM_003462,dynein, axonemal, light intermediate chain 1,280aa) | g.1:38027772G>A,c.733G>A,p.E245K |
| DNALI1(NM_003462,dynein, axonemal, light intermediate chain 1,280aa) | g.1:38027265G>A,c.571G>A,p.E191K |
| DNALI1(NM_003462,dynein, axonemal, light intermediate chain 1,280aa) | g.1:38027235A>G,c.541A>G,p.M181V |
| DNALI1(NM_003462,dynein, axonemal, light intermediate chain 1,280aa) | g.1:38024964G>T,c.330G>T,p.Q110H |
| DNALI1(NM_003462,dynein, axonemal, light intermediate chain 1,280aa) | g.1:38023316C>T,c.260C>T,p.A87V |
| DNAL4(NM_005740,dynein, axonemal, light chain 4,105aa) | g.22:39176976C>A,c.108G>T,p.M36I |
| DNAJC9(NM_015190,DnaJ (Hsp40) homolog, subfamily C, member 9,260aa) | g.10:75006932G>T,c.16C>A,p.L6I |
| DNAJC7(NM_003315,DnaJ (Hsp40) homolog, subfamily C, member 7,494aa) | g.17:40135632C>G,c.1033G>C,p.E345Q |
| DNAJC7(NM_003315,DnaJ (Hsp40) homolog, subfamily C, member 7,494aa) | g.17:40134398T>G,c.1106A>C,p.N369T |
| DNAJC7(NM_003315,DnaJ (Hsp40) homolog, subfamily C, member 7,494aa) | g.17:40134390G>C,c.1114C>G,p.L372V |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65876996G>A,c.2698G>A,p.V900I |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65867519G>A,c.2183G>A,p.S728N |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65864501A>G,c.2044A>G,p.S682G |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65858462A>C,c.1817A>C,p.H606P |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65858222A>G,c.1577A>G,p.N526S |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65855298C>T,c.1456C>T,p.L486F |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65852538A>G,c.1039A>G,p.I347V |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65851439G>A,c.845G>A,p.R282H |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65851438C>T,c.844C>T,p.R282C |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65851423G>A,c.829G>A,p.A277T |
| DNAJC6(NM_001256864,DnaJ (Hsp40) homolog, subfamily C, member 6,970aa) | g.1:65849954A>G,c.745A>G,p.I249V |
| DNAJC5G(NM_173650,DnaJ (Hsp40) homolog, subfamily C, member 5 gamma,189aa) | g.2:27501149G>A,c.469G>A,p.D157N |
| DNAJC5G(NM_173650,DnaJ (Hsp40) homolog, subfamily C, member 5 gamma,189aa) | g.2:27501096T>C,c.416T>C,p.F139S |
| DNAJC5G(NM_173650,DnaJ (Hsp40) homolog, subfamily C, member 5 gamma,189aa) | g.2:27500883G>C,c.375G>C,p.K125N |