| 基因名 | 突变 |
|---|---|
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65110512C>T,c.1472G>A,p.R491Q |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65110254T>G,c.1565A>C,p.E522A |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65108886del,c.1753del,p.585fs |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65108882C>T,c.1757G>A,p.R586H |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65108795C>T,c.1844G>A,p.R615Q |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65108504A>T,c.1919T>A,p.I640N |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10979655T>G,c.164A>C,p.H55P |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10979647G>A,c.172C>T,p.R58W |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10857034C>T,c.668G>A,p.G223E |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10807184C>T,c.1006G>A,p.A336T |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10800452C>G,c.1261G>C,p.G421R |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10800448T>A,c.1265A>T,p.N422I |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10784825C>G,c.2449G>C,p.D817H |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10763029C>T,c.2939G>A,p.R980H |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10759840C>A,c.3443G>T,p.C1148F |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10759554C>T,c.3608G>A,p.S1203N |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10759503C>T,c.3659G>A,p.R1220Q |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10758097G>C,c.3718C>G,p.R1240G |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10752666C>T,c.4060G>A,p.V1354I |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10750150G>C,c.4128C>G,p.H1376Q |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10736675G>A,c.4667C>T,p.T1556M |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10731428C>T,c.4832G>A,p.R1611Q |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10731407T>C,c.4853A>G,p.E1618G |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10705649G>A,c.5345C>T,p.T1782M |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10705436C>T,c.5558G>A,p.R1853H |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10704637C>T,c.5674G>A,p.D1892N |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10704619C>G,c.5692G>C,p.E1898Q |
| PIEZO2(NM_022068,piezo-type mechanosensitive ion channel component 2,2752aa) | g.18:10704550G>A,c.5761C>T,p.R1921C |