| 基因名 | 突变 |
|---|---|
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42863044C>G,c.5281C>G,p.L1761V |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42863035A>G,c.5272A>G,p.K1758E |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42861084G>A,c.4781G>A,p.R1594H |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42858773C>T,c.4045C>T,p.R1349C |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42857691C>T,c.3625C>T,p.R1209W |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42857270G>A,c.3541G>A,p.E1181K |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42856568C>T,c.3310C>T,p.R1104W |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42854337C>T,c.2537C>T,p.S846L |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42853802A>G,c.2450A>G,p.H817R |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42852466G>A,c.2140G>A,p.A714T |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42848894C>T,c.2006C>T,p.T669M |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42841018C>T,c.1304C>T,p.T435M |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42841003G>A,c.1289G>A,p.R430Q |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42840318C>T,c.1064C>T,p.P355L |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42840285A>G,c.1031A>G,p.D344G |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42840278G>A,c.1024G>A,p.V342M |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42840173G>A,c.919G>A,p.V307M |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42839499G>A,c.790G>A,p.A264T |
| MEGF8(NM_001271938,multiple EGF-like-domains 8,2845aa) | g.19:42830472G>T,c.77G>T,p.R26L |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3519121G>A,c.175C>T,p.R59C |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3511973G>A,c.305C>T,p.T102M |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3511934A>G,c.344T>C,p.M115T |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3496479T>C,c.391A>G,p.S131G |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3440753G>A,c.539C>T,p.P180L |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3432025C>T,c.671G>A,p.R224Q |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3431168G>A,c.799C>T,p.R267C |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3431134G>A,c.833C>T,p.A278V |
| MEGF6(NM_001409,multiple EGF-like-domains 6,1541aa) | g.1:3428675C>T,c.871G>A,p.A291T |