| 基因名 | 突变 |
|---|---|
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626566A>C,c.1420A>C,p.S474R |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626557G>C,c.1411G>C,p.G471R |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626389G>A,c.1243G>A,p.A415T |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626117G>C,c.971G>C,p.G324A |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140625897G>A,c.751G>A,p.V251I |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140625603C>T,c.457C>T,p.P153S |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140625429C>A,c.283C>A,p.L95M |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140625340G>A,c.194G>A,p.R65Q |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140605338G>A,c.2261G>A,p.C754Y |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140605092C>G,c.2015C>G,p.P672R |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140604666G>A,c.1589G>A,p.R530H |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140604658C>A,c.1581C>A,p.F527L |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140604621C>T,c.1544C>T,p.A515V |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140604564G>C,c.1487G>C,p.R496P |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140604537A>C,c.1460A>C,p.N487T |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140603601A>G,c.524A>G,p.N175S |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140603528A>G,c.451A>G,p.T151A |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140603480G>A,c.403G>A,p.D135N |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140603370C>A,c.293C>A,p.S98Y |
| PCDHB14(NM_018934,protocadherin beta 14,798aa) | g.5:140603210G>C,c.133G>C,p.V45L |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595835T>G,c.2140T>G,p.C714G |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595802T>C,c.2107T>C,p.F703L |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595791C>T,c.2096C>T,p.S699L |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595749T>C,c.2054T>C,p.L685S |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595730A>G,c.2035A>G,p.T679A |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595625G>A,c.1930G>A,p.V644I |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595355G>T,c.1660G>T,p.A554S |
| PCDHB13(NM_018933,protocadherin beta 13,798aa) | g.5:140595343G>C,c.1648G>C,p.V550L |