| 基因名 | 突变 |
|---|---|
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3413836G>A,c.3442C>T,p.R1148C |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3413612G>C,c.3553C>G,p.H1185D |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3413551C>T,c.3613+1G>A,p.1205Donor |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3412567C>T,c.3758G>A,p.R1253H |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3412502C>T,c.3823G>A,p.G1275S |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3412472C>T,c.3853G>A,p.G1285S |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3412469C>T,c.3856G>A,p.V1286I |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3411282C>T,c.3895G>A,p.V1299M |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3411226G>T,c.3951C>A,p.N1317K |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3411191C>T,c.3986G>A,p.R1329Q |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3411048C>T,c.4016G>A,p.R1339H |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3411000G>A,c.4064C>T,p.T1355M |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3410973C>T,c.4091G>A,p.R1364H |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3410935G>A,c.4129C>T,p.P1377S |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3410644A>G,c.4174T>C,p.W1392R |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3410581G>A,c.4237C>T,p.H1413Y |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3410410C>T,c.4312G>A,p.G1438R |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3409208C>T,c.4511G>A,p.R1504Q |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66416298C>T,c.139G>A,p.D47N |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66416237C>T,c.200G>A,p.R67Q |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66411441C>T,c.284G>A,p.S95N |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66274620C>T,c.601G>A,p.A201T |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66273187G>T,c.691C>A,p.R231S |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66257408T>C,c.950A>G,p.H317R |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66223266C>T,c.1303G>A,p.V435I |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66220799C>T,c.1639G>A,p.V547I |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66220778G>C,c.1660C>G,p.L554V |
| MEGF11(NM_032445,multiple EGF-like-domains 11,1044aa) | g.15:66220772C>T,c.1666G>A,p.G556R |