| 基因名 | 突变 |
|---|---|
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18870914G>A,c.3917C>T,p.P1306L |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18866208C>G,c.4253G>C,p.R1418T |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18864949T>C,c.4724A>G,p.N1575S |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18863701A>C,c.4852T>G,p.S1618A |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18863402G>A,c.5039C>T,p.P1680L |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18861726C>T,c.5116G>A,p.V1706I |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18861705A>T,c.5137T>A,p.S1713T |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18859283C>T,c.5696G>A,p.C1899Y |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18847261T>C,c.8051A>G,p.Y2684C |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18845609C>A,c.8482G>T,p.V2828L |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18844389C>T,c.8665G>A,p.G2889S |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18840750A>G,c.9461T>C,p.L3154P |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18839367T>C,c.9727A>G,p.I3243V |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55844409G>A,c.13C>T,p.R5W |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55844336G>A,c.86C>T,p.S29F |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55826059T>G,c.414A>C,p.E138D |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55825844A>G,c.629T>C,p.F210S |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55812201G>C,c.1219C>G,p.Q407E |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55805440T>C,c.1507A>G,p.I503V |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55804451C>T,c.1606G>A,p.D536N |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55791617G>A,c.2092C>T,p.R698C |
| SMEK2(NM_001122964,SMEK homolog 2, suppressor of mek1 (Dictyostelium),849aa) | g.2:55786098T>C,c.2267A>G,p.E756G |
| SMEK1(NM_032560,SMEK homolog 1, suppressor of mek1 (Dictyostelium),820aa) | g.14:91927861G>A,c.2216C>T,p.T739M |
| SMEK1(NM_032560,SMEK homolog 1, suppressor of mek1 (Dictyostelium),820aa) | g.14:91925172T>A,c.2394A>T,p.E798D |
| SMCR9(NM_001243312,Smith-Magenis syndrome chromosome region, candidate 9,180aa) | g.17:17326604C>T,c.419C>T,p.A140V |
| SMCR9(NM_001243312,Smith-Magenis syndrome chromosome region, candidate 9,180aa) | g.17:17326604_17326605CA>TG,c.419_420CA>TG,p.A140V |
| SMCR9(NM_001243312,Smith-Magenis syndrome chromosome region, candidate 9,180aa) | g.17:17326574G>A,c.389G>A,p.R130H |
| SMCR9(NM_001243312,Smith-Magenis syndrome chromosome region, candidate 9,180aa) | g.17:17326403G>T,c.218G>T,p.R73L |