| 基因名 | 突变 |
|---|---|
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19961330C>T,c.991G>A,p.V331I |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19959756G>A,c.1145C>T,p.T382I |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19959750G>A,c.1151C>T,p.T384M |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19947226C>T,c.1304G>A,p.R435Q |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19947152C>A,c.1378G>T,p.A460S |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19947133T>C,c.1397A>G,p.Y466C |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19938327C>T,c.1577G>A,p.G526D |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19938285C>T,c.1619G>A,p.G540D |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19938235T>G,c.1669A>C,p.K557Q |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19930130A>T,c.1739T>A,p.M580K |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19926053T>G,c.1988A>C,p.Q663P |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19925988G>A,c.2053C>T,p.R685W |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19925987C>T,c.2054G>A,p.R685Q |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19924091C>T,c.2279G>A,p.R760Q |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19924058G>A,c.2312C>T,p.T771I |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19921149G>A,c.2476C>T,p.R826W |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19921148C>T,c.2477G>A,p.R826Q |
| EFEMP2(NM_016938,EGF containing fibulin-like extracellular matrix protein 2,443aa) | g.11:65639801G>T,c.25C>A,p.P9T |
| EFEMP2(NM_016938,EGF containing fibulin-like extracellular matrix protein 2,443aa) | g.11:65639462G>A,c.139C>T,p.P47S |
| EFEMP2(NM_016938,EGF containing fibulin-like extracellular matrix protein 2,443aa) | g.11:65638718C>T,c.277G>A,p.G93S |
| EFEMP2(NM_016938,EGF containing fibulin-like extracellular matrix protein 2,443aa) | g.11:65636058C>T,c.770G>A,p.R257H |
| EFEMP2(NM_016938,EGF containing fibulin-like extracellular matrix protein 2,443aa) | g.11:65636053T>C,c.775A>G,p.I259V |
| EFEMP2(NM_016938,EGF containing fibulin-like extracellular matrix protein 2,443aa) | g.11:65636047C>T,c.781G>A,p.E261K |
| EFEMP1(NM_001039348,EGF containing fibulin-like extracellular matrix protein 1,493aa) | g.2:56108864C>T,c.523G>A,p.D175N |
| EFEMP1(NM_001039348,EGF containing fibulin-like extracellular matrix protein 1,493aa) | g.2:56098015C>T,c.1160G>A,p.R387Q |
| EFEMP1(NM_001039348,EGF containing fibulin-like extracellular matrix protein 1,493aa) | g.2:56097856C>T,c.1319G>A,p.R440Q |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128758556G>C,c.1662G>C,p.E554D |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128755953G>A,c.1583G>A,p.R528Q |