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 | 169559396 | G | A | ENST00000263686 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000263686 | SELP | -1 | LYAM3_HUMAN | c.2483C>T | p.P828L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
2 | 1 | 169559396 | G | A | ENST00000367786 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356760 | SELP | -1 | - | c.2297C>T | p.P766L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
3 | 1 | 169559396 | G | A | ENST00000367788 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356762 | SELP | -1 | - | c.2297C>T | p.P766L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
4 | 1 | 169559396 | G | A | ENST00000367791 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356765 | SELP | -1 | - | c.1925C>T | p.P642L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
5 | 1 | 169559396 | G | A | ENST00000367792 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356766 | SELP | -1 | - | c.1931C>T | p.P644L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
6 | 1 | 169559396 | G | A | ENST00000367793 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356767 | SELP | -1 | - | c.2297C>T | p.P766L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
7 | 1 | 169559396 | G | A | ENST00000367794 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356768 | SELP | -1 | - | c.2297C>T | p.P766L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
8 | 1 | 169559396 | G | A | ENST00000426706 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000391694 | SELP | -1 | - | c.2360C>T | p.P787L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
9 | 1 | 169559396 | G | A | ENST00000458599 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000399368 | SELP | -1 | - | c.1931C>T | p.P644L | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
10 | 1 | 169559396 | G | A | ENST00000466167 | ENSG00000174175 | 169558087 | 169599431 | - | SELP | -1 | - | c.190C>T | p.R64* | non-syn | rs191909936 | 0.0014 | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=75:431 | DAMAGING | D | - | het | 2 |
11 | 1 | 169559436 | G | A | ENST00000263686 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000263686 | SELP | -1 | LYAM3_HUMAN | c.2443C>T | p.L815L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
12 | 1 | 169559436 | G | A | ENST00000367786 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356760 | SELP | -1 | - | c.2257C>T | p.L753L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
13 | 1 | 169559436 | G | A | ENST00000367788 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356762 | SELP | -1 | - | c.2257C>T | p.L753L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
14 | 1 | 169559436 | G | A | ENST00000367791 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356765 | SELP | -1 | - | c.1885C>T | p.L629L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
15 | 1 | 169559436 | G | A | ENST00000367792 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356766 | SELP | -1 | - | c.1891C>T | p.L631L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
16 | 1 | 169559436 | G | A | ENST00000367793 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356767 | SELP | -1 | - | c.2257C>T | p.L753L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
17 | 1 | 169559436 | G | A | ENST00000367794 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000356768 | SELP | -1 | - | c.2257C>T | p.L753L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
18 | 1 | 169559436 | G | A | ENST00000426706 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000391694 | SELP | -1 | - | c.2320C>T | p.L774L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
19 | 1 | 169559436 | G | A | ENST00000458599 | ENSG00000174175 | 169558087 | 169599431 | ENSP00000399368 | SELP | -1 | - | c.1891C>T | p.L631L | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |
20 | 1 | 169559436 | G | A | ENST00000466167 | ENSG00000174175 | 169558087 | 169599431 | - | SELP | -1 | - | c.150C>T | p.T50T | syn | NA | - | - | lod=75:431 | - | - | - | het | 2 |