| 基因名 | 突变 |
|---|---|
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35852309G>A,c.1121G>A,p.G374D |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35835826G>A,c.841G>A,p.D281N |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35835790G>A,c.805G>A,p.V269M |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35827600C>T,c.451C>T,p.R151C |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35826857T>C,c.265T>C,p.Y89H |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35812757C>T,c.188C>T,p.A63V |
| RPN2(NM_002951,ribophorin II,631aa) | g.20:35812735G>A,c.166G>A,p.V56M |
| RPN1(NM_002950,ribophorin I,607aa) | g.3:128369613G>C,c.31C>G,p.L11V |
| RPN1(NM_002950,ribophorin I,607aa) | g.3:128356666G>C,c.609C>G,p.F203L |
| RPN1(NM_002950,ribophorin I,607aa) | g.3:128350922G>A,c.712C>T,p.H238Y |
| RPN1(NM_002950,ribophorin I,607aa) | g.3:128344820C>T,c.1172G>A,p.R391H |
| RPN1(NM_002950,ribophorin I,607aa) | g.3:128344415C>T,c.1357G>A,p.V453I |
| RPN1(NM_002950,ribophorin I,607aa) | g.3:128341075C>G,c.1573G>C,p.A525P |
| RPLP2(NM_001004,ribosomal protein, large, P2,115aa) | g.11:812579G>A,c.217G>A,p.V73I |
| RPLP2(NM_001004,ribosomal protein, large, P2,115aa) | g.11:810345C>G,c.111C>G,p.D37E |
| RPLP2(NM_001004,ribosomal protein, large, P2,115aa) | g.11:810318C>G,c.84C>G,p.D28E |
| RPLP0(NM_053275,ribosomal protein, large, P0,317aa) | g.12:120637198C>T,c.145G>A,p.G49R |
| RPLP0(NM_053275,ribosomal protein, large, P0,317aa) | g.12:120635189T>C,c.728A>G,p.N243S |
| RPL9(NM_001024921,ribosomal protein L9,192aa) | g.4:39459905G>A,c.71C>T,p.T24I |
| RPL9(NM_001024921,ribosomal protein L9,192aa) | g.4:39459878G>A,c.98C>T,p.T33I |
| RPL9(NM_001024921,ribosomal protein L9,192aa) | g.4:39458152G>A,c.265C>T,p.R89C |
| RPL8(NM_033301,ribosomal protein L8,257aa) | g.8:146017424C>G,c.91G>C,p.A31P |
| RPL8(NM_033301,ribosomal protein L8,257aa) | g.8:146016869T>C,c.292A>G,p.I98V |
| RPL7L1(NM_198486,ribosomal protein L7-like 1,246aa) | g.6:42854044C>T,c.583C>T,p.P195S |
| RPL7L1(NM_198486,ribosomal protein L7-like 1,246aa) | g.6:42852397C>T,c.331C>T,p.R111C |
| RPL7L1(NM_198486,ribosomal protein L7-like 1,246aa) | g.6:42851247G>T,c.179G>T,p.W60L |
| RPL7L1(NM_198486,ribosomal protein L7-like 1,246aa) | g.6:42848664A>G,c.80A>G,p.K27R |
| RPL7A(NM_000972,ribosomal protein L7a,266aa) | g.9:136217877C>T,c.647C>T,p.A216V |