| 基因名 | 突变 |
|---|---|
| PALM3(NM_001145028,paralemmin 3,673aa) | g.19:14164629C>T,c.1810G>A,p.D604N |
| PALM3(NM_001145028,paralemmin 3,673aa) | g.19:14164545C>T,c.1894G>A,p.A632T |
| PALM3(NM_001145028,paralemmin 3,673aa) | g.19:14164527G>C,c.1912C>G,p.P638A |
| PALM3(NM_001145028,paralemmin 3,673aa) | g.19:14164442G>A,c.1997C>T,p.T666M |
| PALM3(NM_001145028,paralemmin 3,673aa) | g.19:14164427G>A,c.2012C>T,p.A671V |
| PALM2(NM_053016,paralemmin 2,411aa) | g.9:112705383A>G,c.914A>G,p.N305S |
| PALM2(NM_053016,paralemmin 2,411aa) | g.9:112705364G>A,c.895G>A,p.A299T |
| PALM2(NM_053016,paralemmin 2,411aa) | g.9:112705112C>T,c.643C>T,p.R215C |
| PALM2(NM_053016,paralemmin 2,411aa) | g.9:112705060T>A,c.591T>A,p.H197Q |
| PALM2(NM_053016,paralemmin 2,411aa) | g.9:112705013G>A,c.544G>A,p.E182K |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112918770A>G,c.3167A>G,p.D1056G |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112918755G>A,c.3152G>A,p.R1051H |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900760G>A,c.2936G>A,p.S979N |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900754C>T,c.2930C>T,p.T977M |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900482_112900483del,c.2658_2659del,p.886fs |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900466C>T,c.2642C>T,p.A881V |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900355C>A,c.2531C>A,p.A844E |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900341G>T,c.2517G>T,p.E839D |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900341_112900342insGAAGCT,c.2517_2518insGAAGCT,p.839_840ins2aa |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900340A>C,c.2516A>C,p.E839A |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900199T>C,c.2375T>C,p.L792S |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112900171C>A,c.2347C>A,p.P783T |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112899787C>T,c.1963C>T,p.R655C |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112899715C>A,c.1891C>A,p.P631T |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112899629C>T,c.1805C>T,p.P602L |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112899426T>G,c.1602T>G,p.H534Q |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112899361A>C,c.1537A>C,p.K513Q |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112898942C>T,c.1118C>T,p.A373V |