| 基因名 | 突变 |
|---|---|
| SNX9(NM_016224,sorting nexin 9,595aa) | g.6:158349699C>T,c.1253C>T,p.T418M |
| SNX9(NM_016224,sorting nexin 9,595aa) | g.6:158322995G>A,c.538G>A,p.D180N |
| SNX9(NM_016224,sorting nexin 9,595aa) | g.6:158296186C>T,c.278C>T,p.S93L |
| SNX9(NM_016224,sorting nexin 9,595aa) | g.6:158288648A>C,c.82A>C,p.I28L |
| SNX9(NM_016224,sorting nexin 9,595aa) | g.6:158288582C>T,c.16C>T,p.R6W |
| SNX8(NM_013321,sorting nexin 8,465aa) | g.7:2354034G>C,c.23C>G,p.P8R |
| SNX8(NM_013321,sorting nexin 8,465aa) | g.7:2317934G>A,c.101C>T,p.P34L |
| SNX8(NM_013321,sorting nexin 8,465aa) | g.7:2317856T>C,c.179A>G,p.N60S |
| SNX8(NM_013321,sorting nexin 8,465aa) | g.7:2302980G>A,c.800C>T,p.T267M |
| SNX8(NM_013321,sorting nexin 8,465aa) | g.7:2294756C>G,c.1333G>C,p.A445P |
| SNX7(NM_015976,sorting nexin 7,451aa) | g.1:99164448G>A,c.1025G>A,p.S342N |
| SNX7(NM_015976,sorting nexin 7,451aa) | g.1:99161272G>A,c.838G>A,p.E280K |
| SNX7(NM_015976,sorting nexin 7,451aa) | g.1:99161184C>A,c.750C>A,p.F250L |
| SNX7(NM_015976,sorting nexin 7,451aa) | g.1:99157205A>T,c.589A>T,p.T197S |
| SNX7(NM_015976,sorting nexin 7,451aa) | g.1:99156634T>A,c.367T>A,p.S123T |
| SNX7(NM_015976,sorting nexin 7,451aa) | g.1:99150610G>A,c.350G>A,p.R117K |
| SNX7(NM_015976,sorting nexin 7,451aa) | g.1:99127342G>T,c.55G>T,p.G19C |
| SNX6(NM_021249,sorting nexin 6,290aa) | g.14:35036971A>G,c.740T>C,p.I247T |
| SNX5(NM_152227,sorting nexin 5,404aa) | g.20:17949037T>C,c.32A>G,p.Q11R |
| SNX5(NM_152227,sorting nexin 5,404aa) | g.20:17936034T>C,c.242A>G,p.E81G |
| SNX5(NM_152227,sorting nexin 5,404aa) | g.20:17930836T>C,c.731A>G,p.Y244C |
| SNX4(NM_003794,sorting nexin 4,450aa) | g.3:125238992C>G,c.25G>C,p.E9Q |
| SNX4(NM_003794,sorting nexin 4,450aa) | g.3:125238966C>A,c.51G>T,p.L17F |
| SNX3(NM_003795,sorting nexin 3,162aa) | g.6:108581996C>T,c.130G>A,p.G44S |
| SNX3(NM_003795,sorting nexin 3,162aa) | g.6:108544179C>T,c.233G>A,p.R78Q |
| SNX33(NM_153271,sorting nexin 33,574aa) | g.15:75942741C>G,c.1298C>G,p.P433R |
| SNX33(NM_153271,sorting nexin 33,574aa) | g.15:75942654G>A,c.1211G>A,p.R404H |
| SNX33(NM_153271,sorting nexin 33,574aa) | g.15:75942219C>G,c.776C>G,p.A259G |