| 基因名 | 突变 |
|---|---|
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82895860C>G,c.4592C>G,p.P1531R |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82895826A>G,c.4558A>G,p.S1520G |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82880732C>T,c.3355C>T,p.H1119Y |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82880699C>T,c.3322C>T,p.P1108S |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82880258G>T,c.2881G>T,p.G961C |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82879892G>A,c.2515G>A,p.G839S |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82879761C>T,c.2384C>T,p.P795L |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82876726C>A,c.787C>A,p.P263T |
| PCF11(NM_015885,PCF11 cleavage and polyadenylation factor subunit,1555aa) | g.11:82875309A>G,c.568A>G,p.I190V |
| PCED1B(NM_138371,PC-esterase domain containing 1B,432aa) | g.12:47630090G>A,c.1244G>A,p.R415Q |
| PCED1B(NM_138371,PC-esterase domain containing 1B,432aa) | g.12:47630057G>A,c.1211G>A,p.R404H |
| PCED1B(NM_138371,PC-esterase domain containing 1B,432aa) | g.12:47629883A>G,c.1037A>G,p.H346R |
| PCED1B(NM_138371,PC-esterase domain containing 1B,432aa) | g.12:47629864G>A,c.1018G>A,p.A340T |
| PCED1B(NM_138371,PC-esterase domain containing 1B,432aa) | g.12:47629562G>A,c.716G>A,p.C239Y |
| PCED1B(NM_138371,PC-esterase domain containing 1B,432aa) | g.12:47628929C>G,c.83C>G,p.A28G |
| PCED1A(NM_022760,PC-esterase domain containing 1A,454aa) | g.20:2820493C>A,c.66G>T,p.Q22H |
| PCED1A(NM_022760,PC-esterase domain containing 1A,454aa) | g.20:2819094C>T,c.625G>A,p.D209N |
| PCED1A(NM_022760,PC-esterase domain containing 1A,454aa) | g.20:2816822G>A,c.980C>T,p.P327L |
| PCED1A(NM_022760,PC-esterase domain containing 1A,454aa) | g.20:2816807G>A,c.995C>T,p.S332L |
| PCED1A(NM_022760,PC-esterase domain containing 1A,454aa) | g.20:2816211A>G,c.1262T>C,p.M421T |
| PCED1A(NM_022760,PC-esterase domain containing 1A,454aa) | g.20:2816191G>A,c.1282C>T,p.R428W |
| PCDHGC5(NM_018929,protocadherin gamma subfamily C, 5,944aa) | g.5:140890702G>A,c.2797G>A,p.G933S |
| PCDHGC5(NM_018929,protocadherin gamma subfamily C, 5,944aa) | g.5:140890643A>G,c.2738A>G,p.N913S |
| PCDHGC5(NM_018929,protocadherin gamma subfamily C, 5,944aa) | g.5:140890603G>A,c.2698G>A,p.V900M |
| PCDHGC5(NM_018929,protocadherin gamma subfamily C, 5,944aa) | g.5:140874422G>A,c.2509G>A,p.G837S |
| PCDHGC5(NM_018929,protocadherin gamma subfamily C, 5,944aa) | g.5:140870516A>G,c.1709A>G,p.D570G |
| PCDHGC5(NM_018929,protocadherin gamma subfamily C, 5,944aa) | g.5:140870270G>A,c.1463G>A,p.R488H |
| PCDHGC5(NM_018929,protocadherin gamma subfamily C, 5,944aa) | g.5:140868835G>A,c.28G>A,p.A10T |