| 基因名 | 突变 |
|---|---|
| SIX1(NM_005982,SIX homeobox 1,284aa) | g.14:61113110G>T,c.746C>A,p.P249Q |
| SIVA1(NM_006427,SIVA1, apoptosis-inducing factor,175aa) | g.14:105222988G>A,c.361G>A,p.V121M |
| SIVA1(NM_006427,SIVA1, apoptosis-inducing factor,175aa) | g.14:105222096G>A,c.248G>A,p.R83H |
| SIVA1(NM_006427,SIVA1, apoptosis-inducing factor,175aa) | g.14:105221996G>A,c.148G>A,p.A50T |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35650612del,c.123del,p.41fs |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35650556G>A,c.179C>T,p.A60V |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35650526C>T,c.209G>A,p.R70Q |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35650522G>T,c.213C>A,p.S71R |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35650511G>C,c.224C>G,p.P75R |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35650497A>C,c.236+2T>G,p.79Donor |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35649916C>A,c.520G>T,p.A174S |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35649907G>A,c.529C>T,p.R177C |
| SIT1(NM_014450,signaling threshold regulating transmembrane adaptor 1,196aa) | g.9:35649906C>T,c.530G>A,p.R177H |
| SIRT7(NM_016538,sirtuin 7,400aa) | g.17:79871702C>T,c.952G>A,p.V318I |
| SIRT7(NM_016538,sirtuin 7,400aa) | g.17:79871660C>T,c.994G>A,p.A332T |
| SIRT7(NM_016538,sirtuin 7,400aa) | g.17:79870487C>G,c.1008G>C,p.W336C |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4180836C>T,c.137G>A,p.S46N |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4179156G>A,c.322C>T,p.R108C |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4175927C>T,c.445G>A,p.V149I |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4174859C>T,c.823G>A,p.A275T |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4174758G>C,c.924C>G,p.N308K |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4174745C>A,c.937G>T,p.A313S |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4174678C>T,c.1004G>A,p.R335Q |
| SIRT6(NM_016539,sirtuin 6,355aa) | g.19:4174658G>C,c.1024C>G,p.H342D |
| SIRT5(NM_012241,sirtuin 5,310aa) | g.6:13612078A>G,c.914A>G,p.E305G |
| SIRT5(NM_012241,sirtuin 5,310aa) | g.6:13601169C>T,c.845C>T,p.T282M |
| SIRT5(NM_012241,sirtuin 5,310aa) | g.6:13595784T>C,c.551T>C,p.L184S |
| SIRT5(NM_012241,sirtuin 5,310aa) | g.6:13592091G>A,c.440G>A,p.R147H |