| 基因名 | 突变 |
|---|---|
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66215241C>G,c.1742G>C,p.C581S |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66208528A>C,c.2302T>G,p.C768G |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66206204G>A,c.2581C>T,p.L861F |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66206161C>T,c.2624G>A,p.R875Q |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66206143C>T,c.2642G>A,p.R881Q |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66206090C>T,c.2695G>A,p.D899N |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66198459G>A,c.2731C>T,p.R911C |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66191077A>G,c.2963T>C,p.I988T |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126792941C>G,c.3354C>G,p.D1118E |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126791282G>A,c.3215G>A,p.R1072K |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126774202G>A,c.2176G>A,p.A726T |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126771098C>T,c.2021C>T,p.T674I |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126770414C>A,c.1876C>A,p.Q626K |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126769087C>T,c.1726C>T,p.R576C |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126758444G>T,c.1673G>T,p.R558L |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126755873G>A,c.1564G>A,p.G522R |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126732427G>A,c.616G>A,p.V206I |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126705647A>G,c.365A>G,p.N122S |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126676226A>T,c.223A>T,p.S75C |
| MEGF10(NM_032446,multiple EGF-like-domains 10,1140aa) | g.5:126667050G>A,c.50G>A,p.C17Y |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3306464G>A,c.124C>T,p.R42W |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304739A>G,c.329T>C,p.L110P |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304733_3304734insC,c.334_335insG,p.112fs |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304724G>C,c.344C>G,p.P115R |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304626C>G,c.442G>C,p.E148Q |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304521G>T,c.547C>A,p.P183T |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304463C>T,c.605G>A,p.R202Q |
| MEFV(NM_000243,Mediterranean fever,781aa) | g.16:3304380C>T,c.688G>A,p.E230K |