| 基因名 | 突变 |
|---|---|
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9068655C>T,c.1564G>A,p.V522I |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9055458T>C,c.1882A>G,p.I628V |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9032348G>A,c.2734C>T,p.R912W |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9032210C>T,c.2872G>A,p.E958K |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9027262C>T,c.3241G>A,p.V1081M |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9027245C>A,c.3258G>T,p.K1086N |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64536237G>A,c.3043G>A,p.V1015I |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64521957C>G,c.2857C>G,p.L953V |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64521724A>G,c.2624A>G,p.H875R |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64521679G>A,c.2579G>A,p.R860H |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64521479C>G,c.2515C>G,p.R839G |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64485153G>A,c.1534G>A,p.V512I |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64456715C>T,c.820C>T,p.H274Y |
| SRGAP1(NM_020762,SLIT-ROBO Rho GTPase activating protein 1,1085aa) | g.12:64437273G>A,c.719G>A,p.R240Q |
| SRF(NM_003131,serum response factor (c-fos serum response element-binding transcription factor),508aa) | g.6:43146899G>A,c.1498G>A,p.D500N |
| SRF(NM_003131,serum response factor (c-fos serum response element-binding transcription factor),508aa) | g.6:43146611G>T,c.1422G>T,p.Q474H |
| SRF(NM_003131,serum response factor (c-fos serum response element-binding transcription factor),508aa) | g.6:43143595_43143596insC,c.932_933insC,p.311fs |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121356377A>G,c.947A>G,p.K316R |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121356371T>C,c.941T>C,p.F314S |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121356350A>C,c.920A>C,p.Q307P |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121356189T>A,c.759T>A,p.F253L |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121356178G>A,c.748G>A,p.G250R |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121356164G>T,c.734G>T,p.G245V |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121355960C>T,c.530C>T,p.A177V |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121309945C>T,c.91C>T,p.L31F |
| SRFBP1(NM_152546,serum response factor binding protein 1,429aa) | g.5:121309919G>T,c.65G>T,p.R22I |
| SREK1(NM_139168,splicing regulatory glutamine/lysine-rich protein 1,508aa) | g.5:65474560A>G,c.1391A>G,p.N464S |
| SREK1(NM_139168,splicing regulatory glutamine/lysine-rich protein 1,508aa) | g.5:65473481C>T,c.1372C>T,p.L458F |