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 | 1 | 161192183 | G | T | ENST00000367990 | ENSG00000158874 | 161192082 | 161193421 | ENSP00000356969 | APOA2 | -1 | APOA2_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 1 | 161192183 | G | T | ENST00000463812 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.300C>A | p.T100T | syn | NA | - | - | - | - | - | - | het | 1 |
3 | 1 | 161192183 | G | T | ENST00000464492 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.453C>A | p.T151T | syn | NA | - | - | - | - | - | - | het | 1 |
4 | 1 | 161192183 | G | T | ENST00000468465 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.320C>A | p.P107Q | non-syn | NA | - | - | - | - | - | - | het | 1 |
5 | 1 | 161192183 | G | T | ENST00000469730 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.326C>A | p.P109Q | non-syn | NA | - | - | - | - | - | - | het | 1 |
6 | 1 | 161192183 | G | T | ENST00000470459 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.319C>A | p.H107N | non-syn | NA | - | - | - | - | - | - | het | 1 |
7 | 1 | 161192183 | G | T | ENST00000481413 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.826C>A | p.H276N | non-syn | NA | - | - | - | - | - | - | het | 1 |
8 | 1 | 161192183 | G | T | ENST00000481511 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.555C>A | p.T185T | syn | NA | - | - | - | - | - | - | het | 1 |
9 | 1 | 161192183 | G | T | ENST00000491350 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.189C>A | p.T63T | syn | NA | - | - | - | - | - | - | het | 1 |
10 | 1 | 161192210 | C | T | ENST00000367990 | ENSG00000158874 | 161192082 | 161193421 | ENSP00000356969 | APOA2 | -1 | APOA2_HUMAN | c.288G>A | p.Q96Q | syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
11 | 1 | 161192210 | C | T | ENST00000463812 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.273G>A | p.Q91Q | syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
12 | 1 | 161192210 | C | T | ENST00000464492 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.426G>A | p.Q142Q | syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
13 | 1 | 161192210 | C | T | ENST00000468465 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.293G>A | p.S98N | non-syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
14 | 1 | 161192210 | C | T | ENST00000469730 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.299G>A | p.S100N | non-syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
15 | 1 | 161192210 | C | T | ENST00000470459 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.292G>A | p.A98T | non-syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
16 | 1 | 161192210 | C | T | ENST00000481413 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.799G>A | p.A267T | non-syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
17 | 1 | 161192210 | C | T | ENST00000481511 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.528G>A | p.Q176Q | syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
18 | 1 | 161192210 | C | T | ENST00000491350 | ENSG00000158874 | 161192082 | 161193421 | - | APOA2 | -1 | - | c.162G>A | p.Q54Q | syn | rs6413454 | - | T=0/C=8600;T=30/C=4376;T=30/C=12976 | - | TOLERATED | - | - | het | 1 |
19 | 1 | 161192316 | G | A | ENST00000367990 | ENSG00000158874 | 161192082 | 161193421 | ENSP00000356969 | APOA2 | -1 | APOA2_HUMAN | - | - | -4bp 3'_splice_site | rs6413453 | 0.1368 | A=933/G=7667;A=136/G=4270;A=1069/G=11937 | - | - | - | - | het | 178 |
20 | 1 | 161192316 | G | A | ENST00000367990 | ENSG00000158874 | 161192082 | 161193421 | ENSP00000356969 | APOA2 | -1 | APOA2_HUMAN | - | - | -4bp 3'_splice_site | rs6413453 | 0.1368 | A=933/G=7667;A=136/G=4270;A=1069/G=11937 | - | - | - | - | hom | 16 |