| 基因名 | 突变 |
|---|---|
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16269934A>G,c.1247T>C,p.L416S |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19574244C>G,c.1301C>G,p.P434R |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19573115C>T,c.1213C>T,p.P405S |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19571387G>C,c.1166G>C,p.R389T |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19571357T>C,c.1136T>C,p.L379S |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19562052T>A,c.869T>A,p.F290Y |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19559078G>A,c.724G>A,p.A242T |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19553852G>A,c.436G>A,p.A146T |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19553795G>A,c.379G>A,p.A127T |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19553672C>G,c.256C>G,p.H86D |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19553586T>C,c.170T>C,p.L57P |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19553556G>A,c.140G>A,p.G47E |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19553451C>T,c.35C>T,p.S12F |
| POTEG(NM_001005356,POTE ankyrin domain family, member G,508aa) | g.14:19553436C>T,c.20C>T,p.S7L |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130878058C>G,c.31G>C,p.A11P |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130877956T>C,c.133A>G,p.T45A |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130877851C>T,c.238G>A,p.V80M |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130877752T>C,c.337A>G,p.S113G |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130872791A>G,c.632T>C,p.I211T |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832668C>T,c.2377G>A,p.E793K |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832638C>T,c.2407G>A,p.V803I |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832620T>G,c.2425A>C,p.T809P |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832598C>T,c.2447G>A,p.R816H |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832526A>G,c.2519T>C,p.L840P |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832473C>T,c.2572G>A,p.G858R |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832444C>A,c.2601G>T,p.E867D |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832364G>A,c.2681C>T,p.T894I |
| POTEF(NM_001099771,POTE ankyrin domain family, member F,1075aa) | g.2:130832358T>C,c.2687A>G,p.H896R |