| 基因名 | 突变 |
|---|---|
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257877T>G,c.122A>C,p.E41A |
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257834_41257835insA,c.164_165insT,p.55fs |
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257815G>A,c.184C>T,p.R62W |
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257749A>G,c.250T>C,p.C84R |
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257739C>G,c.260G>C,p.G87A |
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257620A>C,c.379T>G,p.Y127D |
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257566G>T,c.433C>A,p.P145T |
| DNAJB7(NM_145174,DnaJ (Hsp40) homolog, subfamily B, member 7,309aa) | g.22:41257393C>A,c.606G>T,p.K202N |
| DNAJB6(NM_058246,DnaJ (Hsp40) homolog, subfamily B, member 6,326aa) | g.7:157177684G>A,c.602G>A,p.R201K |
| DNAJB6(NM_058246,DnaJ (Hsp40) homolog, subfamily B, member 6,326aa) | g.7:157160173C>A,c.342C>A,p.F114L |
| DNAJB5(NM_001135005,DnaJ (Hsp40) homolog, subfamily B, member 5,420aa) | g.9:34996397G>A,c.563G>A,p.R188H |
| DNAJB5(NM_001135005,DnaJ (Hsp40) homolog, subfamily B, member 5,420aa) | g.9:34993268C>T,c.254C>T,p.S85L |
| DNAJB4(NM_007034,DnaJ (Hsp40) homolog, subfamily B, member 4,337aa) | g.1:78479281C>T,c.758C>T,p.T253I |
| DNAJB4(NM_007034,DnaJ (Hsp40) homolog, subfamily B, member 4,337aa) | g.1:78478821G>A,c.298G>A,p.A100T |
| DNAJB3(NM_001001394,DnaJ (Hsp40) homolog, subfamily B, member 3,145aa) | g.2:234652529G>A,c.34C>T,p.R12W |
| DNAJB3(NM_001001394,DnaJ (Hsp40) homolog, subfamily B, member 3,145aa) | g.2:234652444T>A,c.119A>T,p.E40V |
| DNAJB3(NM_001001394,DnaJ (Hsp40) homolog, subfamily B, member 3,145aa) | g.2:234652349C>T,c.214G>A,p.G72R |
| DNAJB3(NM_001001394,DnaJ (Hsp40) homolog, subfamily B, member 3,145aa) | g.2:234652331T>C,c.232A>G,p.T78A |
| DNAJB3(NM_001001394,DnaJ (Hsp40) homolog, subfamily B, member 3,145aa) | g.2:234652308G>T,c.255C>A,p.D85E |
| DNAJB3(NM_001001394,DnaJ (Hsp40) homolog, subfamily B, member 3,145aa) | g.2:234652227A>C,c.336T>G,p.F112L |
| DNAJB3(NM_001001394,DnaJ (Hsp40) homolog, subfamily B, member 3,145aa) | g.2:234652193C>G,c.370G>C,p.G124R |
| DNAJB2(NM_006736,DnaJ (Hsp40) homolog, subfamily B, member 2,324aa) | g.2:220147591C>T,c.385C>T,p.R129W |
| DNAJB2(NM_006736,DnaJ (Hsp40) homolog, subfamily B, member 2,324aa) | g.2:220146463C>T,c.199C>T,p.R67C |
| DNAJB1(NM_006145,DnaJ (Hsp40) homolog, subfamily B, member 1,340aa) | g.19:14627813T>C,c.257A>G,p.N86S |
| DNAJB1(NM_006145,DnaJ (Hsp40) homolog, subfamily B, member 1,340aa) | g.19:14626895G>A,c.880C>T,p.R294W |
| DNAJB14(NM_001031723,DnaJ (Hsp40) homolog, subfamily B, member 14,379aa) | g.4:100844226T>C,c.422A>G,p.H141R |
| DNAJB13(NM_153614,DnaJ (Hsp40) homolog, subfamily B, member 13,316aa) | g.11:73681135G>A,c.927G>A,p.M309I |
| DNAJB13(NM_153614,DnaJ (Hsp40) homolog, subfamily B, member 13,316aa) | g.11:73681109C>T,c.901C>T,p.R301C |