| 基因名 | 突变 |
|---|---|
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12010469G>T,c.358G>T,p.A120S |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12009956G>A,c.295G>A,p.A99T |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12009911G>A,c.250G>A,p.A84T |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12008065G>A,c.109G>A,p.E37K |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12008051C>T,c.95C>T,p.T32M |
| PLLP(NM_015993,plasmolipin,182aa) | g.16:57295960G>A,c.158C>T,p.A53V |
| PLLP(NM_015993,plasmolipin,182aa) | g.16:57295927G>A,c.191C>T,p.P64L |
| PLLP(NM_015993,plasmolipin,182aa) | g.16:57295901C>T,c.217G>A,p.A73T |
| PLLP(NM_015993,plasmolipin,182aa) | g.16:57290934G>A,c.440C>T,p.A147V |
| PLLP(NM_015993,plasmolipin,182aa) | g.16:57290926C>T,c.448G>A,p.V150M |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1535232A>G,c.994A>G,p.M332V |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1535205G>C,c.967G>C,p.G323R |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1535196C>A,c.958C>A,p.P320T |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1535194_1535196del,c.956_958del,p.319_320del |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1535179G>A,c.941G>A,p.R314Q |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1534042T>C,c.825+2T>C,p.275Donor |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1533972C>G,c.757C>G,p.L253V |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1531869C>T,c.701C>T,p.A234V |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1531836G>T,c.668G>T,p.G223V |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1529821C>T,c.566C>T,p.P189L |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1529418C>T,c.419C>T,p.A140V |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1528906C>T,c.338C>T,p.T113M |
| PLK5(NM_001243079,polo-like kinase 5,336aa) | g.19:1528365C>T,c.266C>T,p.P89L |
| PLK4(NM_014264,polo-like kinase 4,970aa) | g.4:128816129G>C,c.2584G>C,p.G862R |
| PLK4(NM_014264,polo-like kinase 4,970aa) | g.4:128814964G>T,c.2490G>T,p.E830D |
| PLK4(NM_014264,polo-like kinase 4,970aa) | g.4:128811117G>C,c.1556G>C,p.W519S |
| PLK4(NM_014264,polo-like kinase 4,970aa) | g.4:128807870A>G,c.1345A>G,p.N449D |
| PLK4(NM_014264,polo-like kinase 4,970aa) | g.4:128807730C>T,c.1205C>T,p.A402V |