| 基因名 | 突变 |
|---|---|
| DNAJC19(NM_001190233,DnaJ (Hsp40) homolog, subfamily C, member 19,91aa) | g.3:180704758C>T,c.107G>A,p.R36Q |
| DNAJC18(NM_152686,DnaJ (Hsp40) homolog, subfamily C, member 18,358aa) | g.5:138773080G>T,c.208C>A,p.Q70K |
| DNAJC18(NM_152686,DnaJ (Hsp40) homolog, subfamily C, member 18,358aa) | g.5:138764299C>T,c.301G>A,p.A101T |
| DNAJC18(NM_152686,DnaJ (Hsp40) homolog, subfamily C, member 18,358aa) | g.5:138761909T>A,c.511A>T,p.T171S |
| DNAJC18(NM_152686,DnaJ (Hsp40) homolog, subfamily C, member 18,358aa) | g.5:138761888C>T,c.532G>A,p.V178I |
| DNAJC18(NM_152686,DnaJ (Hsp40) homolog, subfamily C, member 18,358aa) | g.5:138760701T>G,c.662A>C,p.K221T |
| DNAJC18(NM_152686,DnaJ (Hsp40) homolog, subfamily C, member 18,358aa) | g.5:138755784T>G,c.910A>C,p.I304L |
| DNAJC17(NM_018163,DnaJ (Hsp40) homolog, subfamily C, member 17,304aa) | g.15:41071757C>T,c.193G>A,p.D65N |
| DNAJC17(NM_018163,DnaJ (Hsp40) homolog, subfamily C, member 17,304aa) | g.15:41071496T>C,c.220A>G,p.K74E |
| DNAJC17(NM_018163,DnaJ (Hsp40) homolog, subfamily C, member 17,304aa) | g.15:41068771T>G,c.350A>C,p.E117A |
| DNAJC17(NM_018163,DnaJ (Hsp40) homolog, subfamily C, member 17,304aa) | g.15:41068483C>T,c.389G>A,p.R130H |
| DNAJC17(NM_018163,DnaJ (Hsp40) homolog, subfamily C, member 17,304aa) | g.15:41068409C>T,c.463G>A,p.D155N |
| DNAJC17(NM_018163,DnaJ (Hsp40) homolog, subfamily C, member 17,304aa) | g.15:41066625C>G,c.610G>C,p.V204L |
| DNAJC17(NM_018163,DnaJ (Hsp40) homolog, subfamily C, member 17,304aa) | g.15:41060221T>C,c.832A>G,p.M278V |
| DNAJC16(NM_015291,DnaJ (Hsp40) homolog, subfamily C, member 16,782aa) | g.1:15892668A>G,c.1771A>G,p.N591D |
| DNAJC16(NM_015291,DnaJ (Hsp40) homolog, subfamily C, member 16,782aa) | g.1:15892587G>C,c.1690G>C,p.D564H |
| DNAJC16(NM_015291,DnaJ (Hsp40) homolog, subfamily C, member 16,782aa) | g.1:15892414G>C,c.1599G>C,p.W533C |
| DNAJC16(NM_015291,DnaJ (Hsp40) homolog, subfamily C, member 16,782aa) | g.1:15886051G>A,c.1054G>A,p.D352N |
| DNAJC16(NM_015291,DnaJ (Hsp40) homolog, subfamily C, member 16,782aa) | g.1:15870989G>A,c.670G>A,p.G224R |
| DNAJC16(NM_015291,DnaJ (Hsp40) homolog, subfamily C, member 16,782aa) | g.1:15870963C>T,c.644C>T,p.T215M |
| DNAJC16(NM_015291,DnaJ (Hsp40) homolog, subfamily C, member 16,782aa) | g.1:15855760C>T,c.160C>T,p.R54W |
| DNAJC15(NM_013238,DnaJ (Hsp40) homolog, subfamily C, member 15,150aa) | g.13:43652797G>A,c.284G>A,p.R95Q |
| DNAJC15(NM_013238,DnaJ (Hsp40) homolog, subfamily C, member 15,150aa) | g.13:43652767A>G,c.254A>G,p.K85R |
| DNAJC15(NM_013238,DnaJ (Hsp40) homolog, subfamily C, member 15,150aa) | g.13:43643126A>C,c.221A>C,p.K74T |
| DNAJC15(NM_013238,DnaJ (Hsp40) homolog, subfamily C, member 15,150aa) | g.13:43597865A>G,c.103A>G,p.R35G |
| DNAJC14(NM_032364,DnaJ (Hsp40) homolog, subfamily C, member 14,702aa) | g.12:56222159G>A,c.284C>T,p.T95M |
| DNAJC14(NM_032364,DnaJ (Hsp40) homolog, subfamily C, member 14,702aa) | g.12:56221854G>C,c.589C>G,p.Q197E |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132257069G>A,c.6675G>A,p.M2225I |