| 基因名 | 突变 |
|---|---|
| GSC(NM_173849,goosecoid homeobox,257aa) | g.14:95236139C>T,c.214G>A,p.A72T |
| GSC(NM_173849,goosecoid homeobox,257aa) | g.14:95235358G>A,c.552C>T,p.Y184Y |
| GSC2(NM_005315,goosecoid homeobox 2,205aa) | g.22:19137658G>A,c.139C>T,p.R47C |
| GSC2(NM_005315,goosecoid homeobox 2,205aa) | g.22:19137198C>T,c.491G>A,p.R164H |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:77035392T>C,c.140A>G,p.H47R |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:77033914C>T,c.205G>A,p.V69I |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:77011918G>A,c.499C>T,p.H167Y |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:77003444G>T,c.814C>A,p.Q272K |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:76991935C>T,c.914G>A,p.G305E |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:76978685C>T,c.1528G>A,p.A510T |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:76958678C>T,c.1705G>A,p.V569M |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:76950699C>T,c.1945G>A,p.V649I |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:76950686C>A,c.1958G>T,p.W653L |
| GSAP(NM_017439,gamma-secretase activating protein,854aa) | g.7:76942810G>T,c.2266C>A,p.P756T |
| GRXCR2(NM_001080516,glutaredoxin, cysteine rich 2,248aa) | g.5:145252467T>C,c.65A>G,p.K22R |
| GRXCR2(NM_001080516,glutaredoxin, cysteine rich 2,248aa) | g.5:145252377C>T,c.155G>A,p.S52N |
| GRXCR2(NM_001080516,glutaredoxin, cysteine rich 2,248aa) | g.5:145252264C>T,c.268G>A,p.E90K |
| GRXCR2(NM_001080516,glutaredoxin, cysteine rich 2,248aa) | g.5:145252239C>T,c.293G>A,p.G98D |
| GRXCR2(NM_001080516,glutaredoxin, cysteine rich 2,248aa) | g.5:145246085T>G,c.543A>C,p.L181F |
| GRXCR1(NM_001080476,glutaredoxin, cysteine rich 1,290aa) | g.4:43032508C>T,c.824C>T,p.T275M |
| GRXCR1(NM_001080476,glutaredoxin, cysteine rich 1,290aa) | g.4:42895572G>A,c.289G>A,p.V97I |
| GRXCR1(NM_001080476,glutaredoxin, cysteine rich 1,290aa) | g.4:42895555G>T,c.272G>T,p.G91V |
| GRXCR1(NM_001080476,glutaredoxin, cysteine rich 1,290aa) | g.4:42895473G>A,c.190G>A,p.G64S |
| GRXCR1(NM_001080476,glutaredoxin, cysteine rich 1,290aa) | g.4:42895423C>T,c.140C>T,p.A47V |
| GRXCR1(NM_001080476,glutaredoxin, cysteine rich 1,290aa) | g.4:42895323C>T,c.40C>T,p.R14W |
| GRXCR1(NM_001080476,glutaredoxin, cysteine rich 1,290aa) | g.4:42895308G>A,c.25G>A,p.E9K |
| GRWD1(NM_031485,glutamate-rich WD repeat containing 1,446aa) | g.19:48956265C>T,c.1324C>T,p.R442C |
| GRWD1(NM_031485,glutamate-rich WD repeat containing 1,446aa) | g.19:48954421G>A,c.956G>A,p.R319Q |