| 基因名 | 突变 |
|---|---|
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140802374G>A,c.1580G>A,p.R527Q |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140802002A>G,c.1208A>G,p.Y403C |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140801897C>T,c.1103C>T,p.A368V |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140801520G>A,c.726G>A,p.M242I |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140801398G>C,c.604G>C,p.D202H |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140801104T>C,c.310T>C,p.F104L |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140801083T>G,c.289T>G,p.C97G |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140795128T>C,c.2386T>C,p.S796P |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140794963G>A,c.2221G>A,p.G741S |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140794930C>T,c.2188C>T,p.Q730X |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140794814C>T,c.2072C>T,p.S691L |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140794792T>C,c.2050T>C,p.S684P |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140794750G>A,c.2008G>A,p.D670N |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140794498G>A,c.1756G>A,p.A586T |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140793974A>T,c.1232A>T,p.H411L |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140793077T>G,c.335T>G,p.I112S |
| PCDHGA10(NM_018913,protocadherin gamma subfamily A, 10,936aa) | g.5:140793007A>G,c.265A>G,p.I89V |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559914T>C,c.2299T>C,p.F767L |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559914T>A,c.2299T>A,p.F767I |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559891G>T,c.2276G>T,p.G759V |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559849G>A,c.2234G>A,p.S745N |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559753T>G,c.2138T>G,p.L713R |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559725T>C,c.2110T>C,p.F704L |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559628C>A,c.2013C>A,p.Y671X |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559596T>G,c.1981T>G,p.L661V |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559572T>C,c.1957T>C,p.C653R |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559532G>C,c.1917G>C,p.Q639H |
| PCDHB8(NM_019120,protocadherin beta 8,801aa) | g.5:140559350C>T,c.1735C>T,p.R579W |