| 基因名 | 突变 |
|---|---|
| DNAJC5G(NM_173650,DnaJ (Hsp40) homolog, subfamily C, member 5 gamma,189aa) | g.2:27500687A>G,c.179A>G,p.Y60C |
| DNAJC5G(NM_173650,DnaJ (Hsp40) homolog, subfamily C, member 5 gamma,189aa) | g.2:27500660A>G,c.152A>G,p.H51R |
| DNAJC5G(NM_173650,DnaJ (Hsp40) homolog, subfamily C, member 5 gamma,189aa) | g.2:27499675G>A,c.79G>A,p.G27S |
| DNAJC5G(NM_173650,DnaJ (Hsp40) homolog, subfamily C, member 5 gamma,189aa) | g.2:27499625G>A,c.29G>A,p.R10Q |
| DNAJC5B(NM_033105,DnaJ (Hsp40) homolog, subfamily C, member 5 beta,199aa) | g.8:66992700G>A,c.422G>A,p.R141Q |
| DNAJC5B(NM_033105,DnaJ (Hsp40) homolog, subfamily C, member 5 beta,199aa) | g.8:66992690G>A,c.412G>A,p.G138R |
| DNAJC4(NM_005528,DnaJ (Hsp40) homolog, subfamily C, member 4,241aa) | g.11:64001633G>A,c.703G>A,p.V235M |
| DNAJC4(NM_005528,DnaJ (Hsp40) homolog, subfamily C, member 4,241aa) | g.11:64001432C>G,c.594C>G,p.N198K |
| DNAJC4(NM_005528,DnaJ (Hsp40) homolog, subfamily C, member 4,241aa) | g.11:64000210C>A,c.400C>A,p.Q134K |
| DNAJC3(NM_006260,DnaJ (Hsp40) homolog, subfamily C, member 3,504aa) | g.13:96443189G>A,c.1420G>A,p.G474S |
| DNAJC3(NM_006260,DnaJ (Hsp40) homolog, subfamily C, member 3,504aa) | g.13:96443139A>G,c.1370A>G,p.K457R |
| DNAJC3(NM_006260,DnaJ (Hsp40) homolog, subfamily C, member 3,504aa) | g.13:96439375T>A,c.1323T>A,p.D441E |
| DNAJC3(NM_006260,DnaJ (Hsp40) homolog, subfamily C, member 3,504aa) | g.13:96416169G>A,c.1037G>A,p.R346Q |
| DNAJC3(NM_006260,DnaJ (Hsp40) homolog, subfamily C, member 3,504aa) | g.13:96415910A>G,c.862A>G,p.T288A |
| DNAJC30(NM_032317,DnaJ (Hsp40) homolog, subfamily C, member 30,226aa) | g.7:73097720G>C,c.34C>G,p.L12V |
| DNAJC30(NM_032317,DnaJ (Hsp40) homolog, subfamily C, member 30,226aa) | g.7:73097713G>A,c.41C>T,p.P14L |
| DNAJC30(NM_032317,DnaJ (Hsp40) homolog, subfamily C, member 30,226aa) | g.7:73097654C>T,c.100G>A,p.G34R |
| DNAJC30(NM_032317,DnaJ (Hsp40) homolog, subfamily C, member 30,226aa) | g.7:73097602T>C,c.152A>G,p.Y51C |
| DNAJC30(NM_032317,DnaJ (Hsp40) homolog, subfamily C, member 30,226aa) | g.7:73097356G>C,c.398C>G,p.P133R |
| DNAJC30(NM_032317,DnaJ (Hsp40) homolog, subfamily C, member 30,226aa) | g.7:73097356G>A,c.398C>T,p.P133L |
| DNAJC30(NM_032317,DnaJ (Hsp40) homolog, subfamily C, member 30,226aa) | g.7:73097320G>A,c.434C>T,p.S145F |
| DNAJC2(NM_014377,DnaJ (Hsp40) homolog, subfamily C, member 2,621aa) | g.7:102982294C>G,c.172G>C,p.E58Q |
| DNAJC2(NM_014377,DnaJ (Hsp40) homolog, subfamily C, member 2,621aa) | g.7:102982258A>T,c.208T>A,p.L70M |
| DNAJC2(NM_014377,DnaJ (Hsp40) homolog, subfamily C, member 2,621aa) | g.7:102962969C>T,c.922G>A,p.A308T |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34861444G>A,c.257C>T,p.T86I |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34861304G>A,c.397C>T,p.H133Y |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34861301G>A,c.400C>T,p.R134X |
| DNAJC28(NM_017833,DnaJ (Hsp40) homolog, subfamily C, member 28,388aa) | g.21:34861300C>T,c.401G>A,p.R134Q |