| 基因名 | 突变 |
|---|---|
| KPNB1(NM_002265,karyopherin (importin) beta 1,876aa) | g.17:45730168C>G,c.208C>G,p.P70A |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98800823C>T,c.107G>A,p.R36Q |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98792911G>A,c.335C>T,p.A112V |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98792710G>A,c.536C>T,p.A179V |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98790671G>A,c.607C>T,p.L203F |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98786092G>A,c.731C>T,p.P244L |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98785999C>T,c.824G>A,p.R275H |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98785958C>G,c.865G>C,p.V289L |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98785930T>C,c.893A>G,p.N298S |
| KPNA7(NM_001145715,karyopherin alpha 7 (importin alpha 8),516aa) | g.7:98775688G>A,c.1319C>T,p.A440V |
| KPNA6(NM_012316,karyopherin alpha 6 (importin alpha 7),536aa) | g.1:32635611G>A,c.1373G>A,p.R458H |
| KPNA5(NM_002269,karyopherin alpha 5 (importin alpha 6),539aa) | g.6:117053432A>T,c.1566A>T,p.Q522H |
| KPNA5(NM_002269,karyopherin alpha 5 (importin alpha 6),539aa) | g.6:117050829C>T,c.1357C>T,p.R453C |
| KPNA5(NM_002269,karyopherin alpha 5 (importin alpha 6),539aa) | g.6:117047758C>T,c.1226C>T,p.T409I |
| KPNA5(NM_002269,karyopherin alpha 5 (importin alpha 6),539aa) | g.6:117043431G>A,c.899G>A,p.R300Q |
| KPNA5(NM_002269,karyopherin alpha 5 (importin alpha 6),539aa) | g.6:117023264C>T,c.518C>T,p.P173L |
| KPNA5(NM_002269,karyopherin alpha 5 (importin alpha 6),539aa) | g.6:117013474G>A,c.259G>A,p.D87N |
| KPNA5(NM_002269,karyopherin alpha 5 (importin alpha 6),539aa) | g.6:117010525G>A,c.47G>A,p.S16N |
| KPNA4(NM_002268,karyopherin alpha 4 (importin alpha 3),521aa) | g.3:160219951C>T,c.1507G>A,p.G503S |
| KPNA3(NM_002267,karyopherin alpha 3 (importin alpha 4),521aa) | g.13:50306897C>T,c.220G>A,p.E74K |
| KPNA3(NM_002267,karyopherin alpha 3 (importin alpha 4),521aa) | g.13:50306528T>C,c.362A>G,p.K121R |
| KPNA3(NM_002267,karyopherin alpha 3 (importin alpha 4),521aa) | g.13:50279776T>A,c.1353A>T,p.E451D |
| KPNA2(NM_002266,karyopherin alpha 2 (RAG cohort 1, importin alpha 1),529aa) | g.17:66042689G>A,c.1567G>A,p.A523T |
| KPNA2(NM_002266,karyopherin alpha 2 (RAG cohort 1, importin alpha 1),529aa) | g.17:66042639T>A,c.1517T>A,p.V506D |
| KPNA2(NM_002266,karyopherin alpha 2 (RAG cohort 1, importin alpha 1),529aa) | g.17:66040119C>T,c.1096C>T,p.R366C |
| KPNA2(NM_002266,karyopherin alpha 2 (RAG cohort 1, importin alpha 1),529aa) | g.17:66039095C>T,c.646C>T,p.P216S |
| KPNA2(NM_002266,karyopherin alpha 2 (RAG cohort 1, importin alpha 1),529aa) | g.17:66038392C>G,c.494C>G,p.P165R |
| KPNA2(NM_002266,karyopherin alpha 2 (RAG cohort 1, importin alpha 1),529aa) | g.17:66038298A>G,c.400A>G,p.S134G |