| 基因名 | 突变 |
|---|---|
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263375G>A,c.1522G>A,p.V508M |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263166C>G,c.1313C>G,p.T438R |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263018T>G,c.1165T>G,p.L389V |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140262683T>C,c.830T>C,p.I277T |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140261899C>G,c.46C>G,p.L16V |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140257401G>A,c.2344G>A,p.D782N |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140257329G>T,c.2272G>T,p.V758L |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140257325G>C,c.2268G>C,p.Q756H |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140256895C>T,c.1838C>T,p.P613L |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140256870G>T,c.1813G>T,p.A605S |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140256777G>C,c.1720G>C,p.G574R |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140256468G>C,c.1411G>C,p.G471R |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140256429C>A,c.1372C>A,p.P458T |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140256388A>G,c.1331A>G,p.E444G |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140256309G>A,c.1252G>A,p.V418M |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140255634G>A,c.577G>A,p.E193K |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140255356C>T,c.299C>T,p.A100V |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140255320C>G,c.263C>G,p.S88C |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140255271G>C,c.214G>C,p.G72R |
| PCDHA12(NM_018903,protocadherin alpha 12,941aa) | g.5:140255119T>G,c.62T>G,p.L21R |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140250985C>G,c.2297C>G,p.T766R |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140250968G>C,c.2280G>C,p.E760D |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140250943A>G,c.2255A>G,p.Q752R |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140250701C>A,c.2013C>A,p.S671R |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140250471G>T,c.1783G>T,p.A595S |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140249884C>T,c.1196C>T,p.T399I |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140249683A>G,c.995A>G,p.H332R |
| PCDHA11(NM_018902,protocadherin alpha 11,949aa) | g.5:140249046A>G,c.358A>G,p.N120D |