| 基因名 | 突变 |
|---|---|
| PPL(NM_002705,periplakin,1756aa) | g.16:4940825C>T,c.2066G>A,p.R689H |
| PPL(NM_002705,periplakin,1756aa) | g.16:4940296G>T,c.2202C>A,p.H734Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4940241C>G,c.2257G>C,p.E753Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4940210A>G,c.2288T>C,p.M763T |
| PPL(NM_002705,periplakin,1756aa) | g.16:4938160T>G,c.2457A>C,p.R819S |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935985C>G,c.2671G>C,p.E891Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935912C>A,c.2744G>T,p.S915I |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935864G>A,c.2792C>T,p.S931L |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935831G>A,c.2825C>T,p.P942L |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935820G>T,c.2836C>A,p.L946M |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935636G>A,c.3020C>T,p.A1007V |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935331C>T,c.3325G>A,p.E1109K |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935132C>T,c.3524G>A,p.R1175Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4935061C>G,c.3595G>C,p.E1199Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934562C>T,c.4094G>A,p.R1365Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934526A>T,c.4130T>A,p.V1377E |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934485G>A,c.4171C>T,p.R1391W |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934433C>T,c.4223G>A,p.R1408H |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934360C>G,c.4296G>C,p.Q1432H |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934286C>T,c.4370G>A,p.R1457Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934215C>T,c.4441G>A,p.E1481K |
| PPL(NM_002705,periplakin,1756aa) | g.16:4934119C>T,c.4537G>A,p.E1513K |
| PPL(NM_002705,periplakin,1756aa) | g.16:4933939G>C,c.4717C>G,p.Q1573E |
| PPL(NM_002705,periplakin,1756aa) | g.16:4933884G>A,c.4772C>T,p.T1591M |
| PPL(NM_002705,periplakin,1756aa) | g.16:4933728A>G,c.4928T>C,p.V1643A |
| PPL(NM_002705,periplakin,1756aa) | g.16:4933690G>A,c.4966C>T,p.R1656C |
| PPL(NM_002705,periplakin,1756aa) | g.16:4933610C>G,c.5046G>C,p.W1682C |
| PPL(NM_002705,periplakin,1756aa) | g.16:4933443T>C,c.5213A>G,p.Y1738C |