| 基因名 | 突变 |
|---|---|
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130776524T>C,c.2258A>G,p.N753S |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130773279C>G,c.2444G>C,p.G815A |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130773241G>C,c.2482C>G,p.L828V |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130773223C>G,c.2500G>C,p.E834Q |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130750661G>A,c.2614C>T,p.R872C |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130750660C>T,c.2615G>A,p.R872H |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130750642A>C,c.2633T>G,p.L878R |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130750592G>A,c.2683C>T,p.R895W |
| SNX19(NM_014758,sorting nexin 19,992aa) | g.11:130749570C>T,c.2795G>A,p.R932Q |
| SNX18(NM_001145427,sorting nexin 18,591aa) | g.5:53815495A>C,c.1713A>C,p.E571D |
| SNX18(NM_001145427,sorting nexin 18,591aa) | g.5:53815191C>G,c.1409C>G,p.S470C |
| SNX18(NM_001145427,sorting nexin 18,591aa) | g.5:53814920A>T,c.1138A>T,p.T380S |
| SNX17(NM_014748,sorting nexin 17,470aa) | g.2:27598750G>A,c.1016G>A,p.R339Q |
| SNX17(NM_014748,sorting nexin 17,470aa) | g.2:27598416G>A,c.818G>A,p.R273H |
| SNX17(NM_014748,sorting nexin 17,470aa) | g.2:27597597G>A,c.653G>A,p.R218Q |
| SNX17(NM_014748,sorting nexin 17,470aa) | g.2:27596143G>A,c.286G>A,p.E96K |
| SNX17(NM_014748,sorting nexin 17,470aa) | g.2:27594142A>C,c.70A>C,p.N24H |
| SNX16(NM_022133,sorting nexin 16,344aa) | g.8:82752079T>C,c.143A>G,p.N48S |
| SNX16(NM_022133,sorting nexin 16,344aa) | g.8:82751929G>A,c.293C>T,p.P98L |
| SNX16(NM_022133,sorting nexin 16,344aa) | g.8:82713734A>G,c.1033T>C,p.X345Q |
| SNX15(NM_013306,sorting nexin 15,342aa) | g.11:64807235C>T,c.1000C>T,p.R334C |
| SNX15(NM_013306,sorting nexin 15,342aa) | g.11:64802388A>C,c.326A>C,p.H109P |
| SNX15(NM_013306,sorting nexin 15,342aa) | g.11:64800008C>G,c.241C>G,p.R81G |
| SNX14(NM_153816,sorting nexin 14,946aa) | g.6:86303361G>C,c.76C>G,p.R26G |
| SNX14(NM_153816,sorting nexin 14,946aa) | g.6:86282090C>A,c.264G>T,p.Q88H |
| SNX14(NM_153816,sorting nexin 14,946aa) | g.6:86282026T>C,c.328A>G,p.K110E |
| SNX14(NM_153816,sorting nexin 14,946aa) | g.6:86275087C>T,c.512G>A,p.R171H |
| SNX14(NM_153816,sorting nexin 14,946aa) | g.6:86258050A>C,c.836T>G,p.F279C |