| 基因名 | 突变 |
|---|---|
| RPL26L1(NM_016093,ribosomal protein L26-like 1,145aa) | g.5:172386949G>A,c.73G>A,p.V25M |
| RPL23A(NM_000984,ribosomal protein L23a,156aa) | g.17:27047791G>T,c.92G>T,p.G31V |
| RPL22L1(NM_001099645,ribosomal protein L22-like 1,122aa) | g.3:170585899T>G,c.127A>C,p.K43Q |
| RPL22L1(NM_001099645,ribosomal protein L22-like 1,122aa) | g.3:170585832G>A,c.194C>T,p.T65I |
| RPL22L1(NM_001099645,ribosomal protein L22-like 1,122aa) | g.3:170585827C>T,c.199G>A,p.V67I |
| RPL22L1(NM_001099645,ribosomal protein L22-like 1,122aa) | g.3:170584249C>A,c.289G>T,p.V97F |
| RPL21(NM_000982,ribosomal protein L21,160aa) | g.13:27830610A>G,c.431A>G,p.N144S |
| RPL19(NM_000981,ribosomal protein L19,196aa) | g.17:37360846C>T,c.536C>T,p.A179V |
| RPL19(NM_000981,ribosomal protein L19,196aa) | g.17:37358685G>A,c.228G>A,p.M76I |
| RPL18(NM_000979,ribosomal protein L18,188aa) | g.19:49120049G>C,c.231C>G,p.N77K |
| RPL17-C18orf32(NM_001199356,RPL17-C18orf32 readthrough,190aa) | g.18:47010017A>G,c.518T>C,p.V173A |
| RPL14(NM_001034996,ribosomal protein L14,215aa) | g.3:40503521_40503529del,c.446_454del,p.149_152del |
| RPL14(NM_001034996,ribosomal protein L14,215aa) | g.3:40503520A>G,c.445A>G,p.T149A |
| RPL14(NM_001034996,ribosomal protein L14,215aa) | g.3:40503519_40503521del,c.444_446del,p.148_149del |
| RPL14(NM_001034996,ribosomal protein L14,215aa) | g.3:40503506C>T,c.431C>T,p.P144L |
| RPL14(NM_001034996,ribosomal protein L14,215aa) | g.3:40499445A>G,c.68A>G,p.K23R |
| RPL13(NM_033251,ribosomal protein L13,211aa) | g.16:89629429G>C,c.615G>C,p.Q205H |
| RPL13(NM_033251,ribosomal protein L13,211aa) | g.16:89628073G>A,c.334G>A,p.A112T |
| RPL13A(NM_012423,ribosomal protein L13a,203aa) | g.19:49994740C>A,c.461C>A,p.A154D |
| RPL13A(NM_012423,ribosomal protein L13a,203aa) | g.19:49994081G>A,c.302G>A,p.R101H |
| RPL13A(NM_012423,ribosomal protein L13a,203aa) | g.19:49994049C>A,c.270C>A,p.H90Q |
| RPL12(NM_000976,ribosomal protein L12,165aa) | g.9:130210646G>A,c.349C>T,p.R117W |
| RPL12(NM_000976,ribosomal protein L12,165aa) | g.9:130210191C>T,c.457G>A,p.D153N |
| RPL10(NM_006013,ribosomal protein L10,214aa) | g.X:153629155A>G,c.605A>G,p.N202S |
| RPL10L(NM_080746,ribosomal protein L10-like,214aa) | g.14:47120557C>T,c.383G>A,p.R128Q |
| RPL10L(NM_080746,ribosomal protein L10-like,214aa) | g.14:47120549T>C,c.391A>G,p.I131V |
| RPL10L(NM_080746,ribosomal protein L10-like,214aa) | g.14:47120483G>A,c.457C>T,p.R153C |
| RPIA(NM_144563,ribose 5-phosphate isomerase A,311aa) | g.2:89037551C>T,c.796C>T,p.H266Y |