No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | X | 153195080 | G | A | ENST00000464845 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000417763 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs187515476 | 0.009 | - | - | - | - | - | het | 3 |
2 | X | 153195080 | G | A | ENST00000464845 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000417763 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs187515476 | 0.009 | - | - | - | - | - | hom | 6 |
3 | X | 153195151 | G | -CCAAGCAGACCT | ENST00000464845 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000417763 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
4 | X | 153195158 | A | C | ENST00000464845 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000417763 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs191475980 | - | - | - | - | - | - | het | 3 |
5 | X | 153195158 | A | C | ENST00000464845 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000417763 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs191475980 | - | - | - | - | - | - | hom | 1 |
6 | X | 153195393 | G | A | ENST00000370009 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000359026 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | hom | 114 |
7 | X | 153195393 | G | A | ENST00000370009 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000359026 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | het | 137 |
8 | X | 153195393 | G | A | ENST00000370015 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000359032 | NAA10 | -1 | - | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | hom | 114 |
9 | X | 153195393 | G | A | ENST00000370015 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000359032 | NAA10 | -1 | - | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | het | 137 |
10 | X | 153195393 | G | A | ENST00000393712 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000377315 | NAA10 | -1 | - | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | hom | 114 |
11 | X | 153195393 | G | A | ENST00000393712 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000377315 | NAA10 | -1 | - | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | het | 137 |
12 | X | 153195393 | G | A | ENST00000464845 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000417763 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | hom | 114 |
13 | X | 153195393 | G | A | ENST00000464845 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000417763 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | het | 137 |
14 | X | 153195393 | G | A | ENST00000466877 | ENSG00000102030 | 153194695 | 153200676 | - | NAA10 | -1 | - | c.1066C>T | p.R356C | non-syn | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | hom | 114 |
15 | X | 153195393 | G | A | ENST00000466877 | ENSG00000102030 | 153194695 | 153200676 | - | NAA10 | -1 | - | c.1066C>T | p.R356C | non-syn | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | het | 137 |
16 | X | 153195393 | G | A | ENST00000482485 | ENSG00000102030 | 153194695 | 153200676 | - | NAA10 | -1 | - | c.962C>T | p.S321L | non-syn | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | hom | 114 |
17 | X | 153195393 | G | A | ENST00000482485 | ENSG00000102030 | 153194695 | 153200676 | - | NAA10 | -1 | - | c.962C>T | p.S321L | non-syn | rs2071128 | 0.5153 | A=905/G=5823;A=175/G=3660;A=1080/G=9483 | - | - | - | - | het | 137 |
18 | X | 153195402 | G | T | ENST00000370009 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000359026 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | NA | - | - | lod=17:272 | - | - | - | het | 1 |
19 | X | 153195402 | G | T | ENST00000370009 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000359026 | NAA10 | -1 | NAA10_HUMAN | - | - | 3'_UTR | NA | - | - | lod=17:272 | - | - | - | hom | 1 |
20 | X | 153195402 | G | T | ENST00000370015 | ENSG00000102030 | 153194695 | 153200676 | ENSP00000359032 | NAA10 | -1 | - | - | - | 3'_UTR | NA | - | - | lod=17:272 | - | - | - | het | 1 |