| 基因名 | 突变 |
|---|---|
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132247160T>G,c.6509T>G,p.L2170W |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132244562G>T,c.6169G>T,p.A2057S |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132242480G>C,c.5983G>C,p.V1995L |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132241705G>A,c.5707G>A,p.V1903I |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132241682C>T,c.5684C>T,p.T1895M |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132235602G>A,c.5615G>A,p.R1872Q |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132230013G>C,c.5218G>C,p.E1740Q |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132226100A>G,c.5018A>G,p.Y1673C |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132224155A>G,c.4894A>G,p.M1632V |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132221143G>A,c.4547G>A,p.R1516H |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132221139C>T,c.4543C>T,p.P1515S |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132218623G>T,c.4387G>T,p.A1463S |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132218621G>A,c.4385G>A,p.R1462H |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132218075C>T,c.4262C>T,p.A1421V |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132215496G>A,c.4145G>A,p.R1382H |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132213034A>G,c.3872A>G,p.E1291G |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132202375C>G,c.3136C>G,p.L1046V |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132196983G>A,c.2708G>A,p.R903K |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132196651G>A,c.2464G>A,p.A822T |
| DNAJC13(NM_015268,DnaJ (Hsp40) homolog, subfamily C, member 13,2243aa) | g.3:132193853C>A,c.2369C>A,p.S790Y |
| DNAJC12(NM_021800,DnaJ (Hsp40) homolog, subfamily C, member 12,198aa) | g.10:69597693G>A,c.77C>T,p.S26L |
| DNAJC12(NM_021800,DnaJ (Hsp40) homolog, subfamily C, member 12,198aa) | g.10:69565471C>A,c.372G>T,p.M124I |
| DNAJC12(NM_021800,DnaJ (Hsp40) homolog, subfamily C, member 12,198aa) | g.10:69565456A>C,c.387T>G,p.C129W |
| DNAJC12(NM_021800,DnaJ (Hsp40) homolog, subfamily C, member 12,198aa) | g.10:69565403G>A,c.440C>T,p.T147M |
| DNAJC12(NM_021800,DnaJ (Hsp40) homolog, subfamily C, member 12,198aa) | g.10:69565364G>A,c.479C>T,p.S160F |
| DNAJC11(NM_018198,DnaJ (Hsp40) homolog, subfamily C, member 11,559aa) | g.1:6741027T>A,c.143A>T,p.D48V |
| DNAJC11(NM_018198,DnaJ (Hsp40) homolog, subfamily C, member 11,559aa) | g.1:6727803_6727804del,c.343_344del,p.115fs |
| DNAJC11(NM_018198,DnaJ (Hsp40) homolog, subfamily C, member 11,559aa) | g.1:6705944C>T,c.799G>A,p.V267M |