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 | 19 | 7694623 | A | G | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 19 | 7694633 | A | G | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
3 | 19 | 7694646 | A | C | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
4 | 19 | 7694662 | T | C | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | - | - | 5'_UTR | rs3760675 | 0.3289 | - | - | - | - | - | hom | 4 |
5 | 19 | 7694662 | T | C | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | - | - | 5'_UTR | rs3760675 | 0.3289 | - | - | - | - | - | het | 48 |
6 | 19 | 7694671 | G | T | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | - | - | 5'_UTR | NA | - | T=3/G=3179;T=0/G=1384;T=3/G=4563 | - | - | - | - | het | 1 |
7 | 19 | 7694772 | G | A | ENST00000602109 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.78G>A | p.G26G | syn | NA | - | A=6/G=3176;A=1/G=1383;A=7/G=4559 | - | - | - | - | het | 1 |
8 | 19 | 7694819 | G | T | ENST00000602109 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.125G>T | p.W42L | non-syn | NA | - | - | - | - | - | - | het | 2 |
9 | 19 | 7695336 | A | G | ENST00000602109 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.642A>G | p.G214G | syn | rs3760676 | 0.34813 | - | - | - | - | - | het | 89 |
10 | 19 | 7695336 | A | G | ENST00000602109 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.642A>G | p.G214G | syn | rs3760676 | 0.34813 | - | - | - | - | - | hom | 51 |
11 | 19 | 7695505 | A | G | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | c.74A>G | p.N25S | non-syn | rs184325854 | 0.003 | G=8/A=3174;G=0/A=1384;G=8/A=4558 | lod=207:539 | DAMAGING | - | - | het | 5 |
12 | 19 | 7695505 | A | G | ENST00000598540 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470314 | PET100 | 1 | - | c.69A>G | p.Q23Q | syn | rs184325854 | 0.003 | G=8/A=3174;G=0/A=1384;G=8/A=4558 | lod=207:539 | DAMAGING | - | - | het | 5 |
13 | 19 | 7695505 | A | G | ENST00000600836 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.95A>G | p.N32S | non-syn | rs184325854 | 0.003 | G=8/A=3174;G=0/A=1384;G=8/A=4558 | lod=207:539 | DAMAGING | - | - | het | 5 |
14 | 19 | 7695505 | A | G | ENST00000601406 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470935 | PET100 | 1 | - | c.74A>G | p.N25S | non-syn | rs184325854 | 0.003 | G=8/A=3174;G=0/A=1384;G=8/A=4558 | lod=207:539 | DAMAGING | - | - | het | 5 |
15 | 19 | 7695505 | A | G | ENST00000601829 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.84A>G | p.Q28Q | syn | rs184325854 | 0.003 | G=8/A=3174;G=0/A=1384;G=8/A=4558 | lod=207:539 | DAMAGING | - | - | het | 5 |
16 | 19 | 7695505 | A | G | ENST00000602109 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.811A>G | p.I271V | non-syn | rs184325854 | 0.003 | G=8/A=3174;G=0/A=1384;G=8/A=4558 | lod=207:539 | DAMAGING | - | - | het | 5 |
17 | 19 | 7695513 | G | A | ENST00000594797 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470539 | PET100 | 1 | PT100_HUMAN | c.82G>A | p.E28K | non-syn | rs4134804 | 0.0089 | A=0/G=3182;A=20/G=1364;A=20/G=4546 | lod=207:539 | DAMAGING | - | - | het | 3 |
18 | 19 | 7695513 | G | A | ENST00000598540 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470314 | PET100 | 1 | - | c.77G>A | p.R26Q | non-syn | rs4134804 | 0.0089 | A=0/G=3182;A=20/G=1364;A=20/G=4546 | lod=207:539 | DAMAGING | - | - | het | 3 |
19 | 19 | 7695513 | G | A | ENST00000600836 | ENSG00000229833 | 7694623 | 7696842 | - | PET100 | 1 | - | c.103G>A | p.E35K | non-syn | rs4134804 | 0.0089 | A=0/G=3182;A=20/G=1364;A=20/G=4546 | lod=207:539 | DAMAGING | - | - | het | 3 |
20 | 19 | 7695513 | G | A | ENST00000601406 | ENSG00000229833 | 7694623 | 7696842 | ENSP00000470935 | PET100 | 1 | - | c.82G>A | p.E28K | non-syn | rs4134804 | 0.0089 | A=0/G=3182;A=20/G=1364;A=20/G=4546 | lod=207:539 | DAMAGING | - | - | het | 3 |