| 基因名 | 突变 |
|---|---|
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100855840C>T,c.976G>A,p.D326N |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100855576G>A,c.1085C>T,p.P362L |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100855215C>G,c.1144G>C,p.D382H |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100854915C>T,c.1315G>A,p.A439T |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100853911G>C,c.1402C>G,p.R468G |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100853379C>G,c.1678G>C,p.E560Q |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100850908G>A,c.1886C>T,p.T629M |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100850890G>A,c.1904C>T,p.T635I |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100850859C>G,c.1935G>C,p.K645N |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145841965C>T,c.161G>A,p.R54Q |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145838986A>C,c.251T>G,p.I84S |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145828192T>C,c.382A>G,p.K128E |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145824401C>T,c.533G>A,p.R178H |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145824347G>A,c.587C>T,p.T196I |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145822093T>C,c.652A>G,p.I218V |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145809661C>T,c.805G>A,p.V269I |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145806429T>C,c.949A>G,p.I317V |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145803050G>A,c.1138C>T,p.R380C |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145803032C>T,c.1156G>A,p.D386N |
| PLOD2(NM_182943,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2,758aa) | g.3:145788623T>C,c.2158A>G,p.I720V |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12032953G>A,c.1927G>A,p.V643I |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12025648G>A,c.1582G>A,p.E528K |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12025600C>T,c.1534C>T,p.R512C |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12025561C>T,c.1495C>T,p.R499W |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12024350C>T,c.1321C>T,p.R441W |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12017996T>C,c.839T>C,p.I280T |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12016982G>A,c.652G>A,p.V218M |
| PLOD1(NM_000302,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1,727aa) | g.1:12012782C>T,c.569C>T,p.P190L |