| 基因名 | 突变 |
|---|---|
| RPP40(NM_006638,ribonuclease P/MRP 40kDa subunit,363aa) | g.6:4996611T>G,c.603A>C,p.Q201H |
| RPP40(NM_006638,ribonuclease P/MRP 40kDa subunit,363aa) | g.6:4996571T>C,c.643A>G,p.R215G |
| RPP40(NM_006638,ribonuclease P/MRP 40kDa subunit,363aa) | g.6:4996543C>T,c.671G>A,p.S224N |
| RPP40(NM_006638,ribonuclease P/MRP 40kDa subunit,363aa) | g.6:4995505T>C,c.899A>G,p.Y300C |
| RPP40(NM_006638,ribonuclease P/MRP 40kDa subunit,363aa) | g.6:4995464C>T,c.940G>A,p.V314I |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15146061C>G,c.748C>G,p.R250G |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15146020T>C,c.707T>C,p.F236S |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15145948T>C,c.635T>C,p.I212T |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15145918G>C,c.605G>C,p.S202T |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15145917A>C,c.604A>C,p.S202R |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15145855C>G,c.542C>G,p.A181G |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15145569A>G,c.256A>G,p.I86V |
| RPP38(NM_183005,ribonuclease P/MRP 38kDa subunit,283aa) | g.10:15145353C>T,c.40C>T,p.R14C |
| RPP30(NM_001104546,ribonuclease P/MRP 30kDa subunit,322aa) | g.10:92656128C>T,c.676C>T,p.R226X |
| RPP30(NM_001104546,ribonuclease P/MRP 30kDa subunit,322aa) | g.10:92656101G>A,c.649G>A,p.A217T |
| RPP30(NM_001104546,ribonuclease P/MRP 30kDa subunit,322aa) | g.10:92654589A>G,c.490A>G,p.T164A |
| RPP30(NM_001104546,ribonuclease P/MRP 30kDa subunit,322aa) | g.10:92654580A>G,c.481A>G,p.K161E |
| RPP30(NM_001104546,ribonuclease P/MRP 30kDa subunit,322aa) | g.10:92631778G>A,c.35G>A,p.G12D |
| RPP30(NM_001104546,ribonuclease P/MRP 30kDa subunit,322aa) | g.10:92631775C>T,c.32C>T,p.A11V |
| RPP30(NM_001104546,ribonuclease P/MRP 30kDa subunit,322aa) | g.10:92631768C>A,c.25C>A,p.L9M |
| RPP21(NM_001199120,ribonuclease P/MRP 21kDa subunit,162aa) | g.6:30314567C>A,c.469C>A,p.Q157K |
| RPP21(NM_001199120,ribonuclease P/MRP 21kDa subunit,162aa) | g.6:30314275A>G,c.332A>G,p.N111S |
| RPP21(NM_001199120,ribonuclease P/MRP 21kDa subunit,162aa) | g.6:30313340G>C,c.255G>C,p.Q85H |
| RPP21(NM_001199120,ribonuclease P/MRP 21kDa subunit,162aa) | g.6:30312958C>T,c.10C>T,p.P4S |
| RPP14(NM_001098783,ribonuclease P/MRP 14kDa subunit,124aa) | g.3:58302710G>A,c.308G>A,p.R103Q |
| RPP14(NM_001098783,ribonuclease P/MRP 14kDa subunit,124aa) | g.3:58302291T>G,c.212T>G,p.L71W |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35857133A>G,c.1480A>G,p.I494V |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35857025G>T,c.1372G>T,p.V458L |