| 基因名 | 突变 |
|---|---|
| KRT79(NM_175834,keratin 79,535aa) | g.12:53227629C>T,c.416G>A,p.R139H |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53227617C>T,c.428G>A,p.R143Q |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53225406C>T,c.482G>A,p.R161Q |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53225282C>T,c.606G>A,p.M202I |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53225280C>T,c.608G>A,p.R203Q |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53223865T>C,c.797A>G,p.H266R |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53218122C>T,c.880G>A,p.V294M |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53218056C>T,c.946G>A,p.A316T |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53216989G>A,c.1178C>T,p.A393V |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53216977C>T,c.1190G>A,p.G397E |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53216950T>C,c.1217A>G,p.K406R |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53216897G>A,c.1270C>T,p.R424W |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53216861T>G,c.1306A>C,p.K436Q |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53215823C>T,c.1441G>A,p.A481T |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53215816C>A,c.1448G>T,p.S483I |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53215736C>T,c.1528G>A,p.V510I |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53215684G>A,c.1580C>T,p.T527M |
| KRT79(NM_175834,keratin 79,535aa) | g.12:53215675G>A,c.1589C>T,p.T530M |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53242695C>T,c.20G>A,p.R7Q |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53242641C>T,c.74G>A,p.R25H |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53242629del,c.86del,p.29fs |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53242579C>T,c.136G>A,p.G46R |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53242537C>T,c.178G>A,p.G60S |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53242498G>A,c.217C>T,p.P73S |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53242440A>G,c.275T>C,p.L92P |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53241799G>T,c.491C>A,p.A164D |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53240586G>A,c.622C>T,p.R208C |
| KRT78(NM_173352,keratin 78,520aa) | g.12:53240025C>T,c.712G>A,p.A238T |