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 |
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1 | 3 | 138724726 | C | G | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | - | - | 5'_UTR | rs147495715 | 0.0036 | - | - | DAMAGING | - | - | het | 4 |
2 | 3 | 138724726 | C | G | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | - | - | 5'_UTR | rs147495715 | 0.0036 | - | - | DAMAGING | - | - | hom | 2 |
3 | 3 | 138724753 | C | G | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | - | - | 5'_UTR | rs201305464 | - | G=1/C=3181;G=31/C=1353;G=32/C=4534 | - | TOLERATED | - | - | het | 3 |
4 | 3 | 138724757 | C | G | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | - | - | 5'_UTR | rs11924188 | 0.7216 | G=2443/C=739;G=701/C=683;G=3144/C=1422 | - | - | - | - | hom | 543 |
5 | 3 | 138724757 | C | G | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | - | - | 5'_UTR | rs11924188 | 0.7216 | G=2443/C=739;G=701/C=683;G=3144/C=1422 | - | - | - | - | het | 341 |
6 | 3 | 138724858 | T | C | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | - | - | 5'_UTR | rs114330403 | 0.0077 | C=97/T=3083;C=12/T=1372;C=109/T=4455 | - | DAMAGING | - | - | het | 52 |
7 | 3 | 138724858 | T | C | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | - | - | 5'_UTR | rs114330403 | 0.0077 | C=97/T=3083;C=12/T=1372;C=109/T=4455 | - | DAMAGING | - | - | hom | 2 |
8 | 3 | 138881931 | G | A | ENST00000495225 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000417104 | MRPS22 | 1 | - | - | - | 5'_UTR | rs76877408 | 0.0314 | - | - | - | - | - | het | 1 |
9 | 3 | 139062874 | G | A | ENST00000310776 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000310785 | MRPS22 | 1 | RT22_HUMAN | c.6G>A | p.A2A | syn | rs144902770 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | - | - | - | - | het | 3 |
10 | 3 | 139062874 | G | A | ENST00000465056 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418233 | MRPS22 | 1 | - | c.6G>A | p.A2A | syn | rs144902770 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | - | - | - | - | het | 3 |
11 | 3 | 139062874 | G | A | ENST00000480938 | ENSG00000175110 | 138724648 | 139076065 | - | MRPS22 | 1 | - | c.6G>A | p.A2A | syn | rs144902770 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | - | - | - | - | het | 3 |
12 | 3 | 139062874 | G | A | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | c.6G>A | p.A2A | syn | rs144902770 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | - | - | - | - | het | 3 |
13 | 3 | 139062874 | G | A | ENST00000498505 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000420482 | MRPS22 | 1 | - | c.6G>A | p.A2A | syn | rs144902770 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | - | - | - | - | het | 3 |
14 | 3 | 139062895 | G | C | ENST00000310776 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000310785 | MRPS22 | 1 | RT22_HUMAN | c.27G>C | p.L9F | non-syn | rs148997212 | - | C=0/G=8600;C=24/G=4382;C=24/G=12982 | - | TOLERATED | B | - | het | 1 |
15 | 3 | 139062895 | G | C | ENST00000465056 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418233 | MRPS22 | 1 | - | c.27G>C | p.L9F | non-syn | rs148997212 | - | C=0/G=8600;C=24/G=4382;C=24/G=12982 | - | TOLERATED | B | - | het | 1 |
16 | 3 | 139062895 | G | C | ENST00000465373 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000419920 | MRPS22 | 1 | - | c.15G>C | p.L5F | non-syn | rs148997212 | - | C=0/G=8600;C=24/G=4382;C=24/G=12982 | - | TOLERATED | B | - | het | 1 |
17 | 3 | 139062895 | G | C | ENST00000466690 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000419737 | MRPS22 | 1 | - | c.13G>C | p.A5P | non-syn | rs148997212 | - | C=0/G=8600;C=24/G=4382;C=24/G=12982 | - | TOLERATED | B | - | het | 1 |
18 | 3 | 139062895 | G | C | ENST00000480938 | ENSG00000175110 | 138724648 | 139076065 | - | MRPS22 | 1 | - | c.27G>C | p.L9F | non-syn | rs148997212 | - | C=0/G=8600;C=24/G=4382;C=24/G=12982 | - | TOLERATED | B | - | het | 1 |
19 | 3 | 139062895 | G | C | ENST00000495075 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000418008 | MRPS22 | 1 | RT22_HUMAN | c.27G>C | p.L9F | non-syn | rs148997212 | - | C=0/G=8600;C=24/G=4382;C=24/G=12982 | - | TOLERATED | B | - | het | 1 |
20 | 3 | 139062895 | G | C | ENST00000498505 | ENSG00000175110 | 138724648 | 139076065 | ENSP00000420482 | MRPS22 | 1 | - | c.27G>C | p.L9F | non-syn | rs148997212 | - | C=0/G=8600;C=24/G=4382;C=24/G=12982 | - | TOLERATED | B | - | het | 1 |