| 基因名 | 突变 |
|---|---|
| TFAP2E(NM_178548,transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon),442aa) | g.1:36060056C>T,c.1108C>T,p.R370C |
| TFAP2E(NM_178548,transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon),442aa) | g.1:36060035C>T,c.1087C>T,p.R363C |
| TFAP2E(NM_178548,transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon),442aa) | g.1:36056327G>A,c.997G>A,p.A333T |
| TFAP2E(NM_178548,transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon),442aa) | g.1:36056256G>A,c.926G>A,p.R309Q |
| TFAP2E(NM_178548,transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon),442aa) | g.1:36055616G>A,c.871G>A,p.A291T |
| TFAP2E(NM_178548,transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon),442aa) | g.1:36054078C>T,c.710C>T,p.T237M |
| TFAP2E(NM_178548,transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon),442aa) | g.1:36053996G>A,c.628G>A,p.G210S |
| TFAP2D(NM_172238,transcription factor AP-2 delta (activating enhancer binding protein 2 delta),452aa) | g.6:50740545G>A,c.1327G>A,p.V443M |
| TFAP2D(NM_172238,transcription factor AP-2 delta (activating enhancer binding protein 2 delta),452aa) | g.6:50740473G>A,c.1255G>A,p.G419R |
| TFAP2D(NM_172238,transcription factor AP-2 delta (activating enhancer binding protein 2 delta),452aa) | g.6:50696930G>A,c.788G>A,p.R263H |
| TFAP2D(NM_172238,transcription factor AP-2 delta (activating enhancer binding protein 2 delta),452aa) | g.6:50683244C>G,c.455C>G,p.S152C |
| TFAP2D(NM_172238,transcription factor AP-2 delta (activating enhancer binding protein 2 delta),452aa) | g.6:50683021T>A,c.232T>A,p.F78I |
| TFAP2D(NM_172238,transcription factor AP-2 delta (activating enhancer binding protein 2 delta),452aa) | g.6:50683009T>C,c.220T>C,p.F74L |
| TFAP2B(NM_003221,transcription factor AP-2 beta (activating enhancer binding protein 2 beta),460aa) | g.6:50807934G>A,c.1006G>A,p.V336I |
| TFAP2B(NM_003221,transcription factor AP-2 beta (activating enhancer binding protein 2 beta),460aa) | g.6:50805703_50805704insG,c.837_838insG,p.279fs |
| TFAP2B(NM_003221,transcription factor AP-2 beta (activating enhancer binding protein 2 beta),460aa) | g.6:50796353A>G,c.562A>G,p.S188G |
| TFAP2A(NM_001032280,transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha),431aa) | g.6:10410517T>C,c.79A>G,p.T27A |
| TFAP2A(NM_001032280,transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha),431aa) | g.6:10404882T>C,c.605A>G,p.N202S |
| TFAM(NM_003201,transcription factor A, mitochondrial,246aa) | g.10:60154790C>T,c.697C>T,p.R233C |
| TFAM(NM_003201,transcription factor A, mitochondrial,246aa) | g.10:60146077A>G,c.199A>G,p.I67V |
| TFAM(NM_003201,transcription factor A, mitochondrial,246aa) | g.10:60146017G>A,c.139G>A,p.A47T |
| TFAM(NM_003201,transcription factor A, mitochondrial,246aa) | g.10:60145342G>C,c.35G>C,p.S12T |
| TEX9(NM_198524,testis expressed 9,391aa) | g.15:56720642A>C,c.1176A>C,p.X392Y |
| TEX9(NM_198524,testis expressed 9,391aa) | g.15:56704567T>G,c.896T>G,p.L299W |
| TEX9(NM_198524,testis expressed 9,391aa) | g.15:56683509T>C,c.464T>C,p.F155S |
| TEX9(NM_198524,testis expressed 9,391aa) | g.15:56657843C>T,c.94C>T,p.L32F |
| TEX9(NM_198524,testis expressed 9,391aa) | g.15:56657796C>A,c.47C>A,p.T16N |
| TEX40(NM_001039496,testis expressed 40,200aa) | g.11:64071272G>C,c.460G>C,p.E154Q |