| 基因名 | 突变 |
|---|---|
| POTED(NM_174981,POTE ankyrin domain family, member D,584aa) | g.21:14982764G>A,c.215G>A,p.C72Y |
| POTED(NM_174981,POTE ankyrin domain family, member D,584aa) | g.21:14982746G>A,c.197G>A,p.R66H |
| POTED(NM_174981,POTE ankyrin domain family, member D,584aa) | g.21:14982745C>T,c.196C>T,p.R66C |
| POTED(NM_174981,POTE ankyrin domain family, member D,584aa) | g.21:14982721A>G,c.172A>G,p.R58G |
| POTED(NM_174981,POTE ankyrin domain family, member D,584aa) | g.21:14982716T>C,c.167T>C,p.M56T |
| POTED(NM_174981,POTE ankyrin domain family, member D,584aa) | g.21:14982586A>G,c.37A>G,p.T13A |
| POTED(NM_174981,POTE ankyrin domain family, member D,584aa) | g.21:14982577A>G,c.28A>G,p.T10A |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14543139T>C,c.7A>G,p.T3A |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14543063A>C,c.83T>G,p.F28C |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14543057T>G,c.89A>C,p.H30P |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14543039T>C,c.107A>G,p.K36R |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542979A>G,c.167T>C,p.M56T |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542949T>C,c.197A>G,p.H66R |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542931C>T,c.215G>A,p.C72Y |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542890G>C,c.256C>G,p.H86D |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542791C>T,c.355G>A,p.A119T |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542712C>T,c.434G>A,p.R145K |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542688G>A,c.458C>T,p.P153L |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14542648C>A,c.498G>T,p.M166I |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14537970C>T,c.640G>A,p.V214I |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14537949A>G,c.661T>C,p.C221R |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14537922C>T,c.688G>A,p.A230T |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14533105G>C,c.1010C>G,p.S337C |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14533084T>C,c.1031A>G,p.Y344C |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14513786T>C,c.1410-2A>G,p.470Acceptor |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14513759G>A,c.1435C>T,p.Q479X |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14513678T>G,c.1516A>C,p.K506Q |
| POTEC(NM_001137671,POTE ankyrin domain family, member C,542aa) | g.18:14511944T>C,c.1582A>G,p.M528V |