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 | 17 | 3539835 | T | C | ENST00000046640 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000046640 | CTNS | 1 | CTNS_HUMAN | - | - | 5'_UTR | rs111977802 | 0.0698 | - | - | - | - | - | hom | 1 |
2 | 17 | 3539835 | T | C | ENST00000381870 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000371294 | CTNS | 1 | CTNS_HUMAN | - | - | 5'_UTR | rs111977802 | 0.0698 | - | - | - | - | - | hom | 1 |
3 | 17 | 3550784 | C | T | ENST00000046640 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000046640 | CTNS | 1 | CTNS_HUMAN | c.108C>T | p.N36N | syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
4 | 17 | 3550784 | C | T | ENST00000381870 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000371294 | CTNS | 1 | CTNS_HUMAN | c.108C>T | p.N36N | syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
5 | 17 | 3550784 | C | T | ENST00000399306 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000382245 | CTNS | 1 | - | c.108C>T | p.N36N | syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
6 | 17 | 3550784 | C | T | ENST00000452111 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000408652 | CTNS | 1 | - | c.108C>T | p.N36N | syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
7 | 17 | 3550784 | C | T | ENST00000467663 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000461056 | CTNS | 1 | - | c.108C>T | p.N36N | syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
8 | 17 | 3550784 | C | T | ENST00000488623 | ENSG00000040531 | 3539762 | 3564836 | - | CTNS | 1 | - | c.329C>T | p.T110M | non-syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
9 | 17 | 3550784 | C | T | ENST00000495445 | ENSG00000040531 | 3539762 | 3564836 | - | CTNS | 1 | - | c.422C>T | p.T141M | non-syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
10 | 17 | 3550784 | C | T | ENST00000576979 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000458457 | CTNS | 1 | - | c.108C>T | p.N36N | syn | rs117404824 | 0.0091 | T=61/C=8539;T=4/C=4402;T=65/C=12941 | lod=56:399 | - | - | - | het | 2 |
11 | 17 | 3550792 | C | T | ENST00000046640 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000046640 | CTNS | 1 | CTNS_HUMAN | c.116C>T | p.S39L | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
12 | 17 | 3550792 | C | T | ENST00000381870 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000371294 | CTNS | 1 | CTNS_HUMAN | c.116C>T | p.S39L | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
13 | 17 | 3550792 | C | T | ENST00000399306 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000382245 | CTNS | 1 | - | c.116C>T | p.S39L | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
14 | 17 | 3550792 | C | T | ENST00000452111 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000408652 | CTNS | 1 | - | c.116C>T | p.S39L | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
15 | 17 | 3550792 | C | T | ENST00000467663 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000461056 | CTNS | 1 | - | c.116C>T | p.S39L | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
16 | 17 | 3550792 | C | T | ENST00000488623 | ENSG00000040531 | 3539762 | 3564836 | - | CTNS | 1 | - | c.337C>T | p.R113* | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
17 | 17 | 3550792 | C | T | ENST00000495445 | ENSG00000040531 | 3539762 | 3564836 | - | CTNS | 1 | - | c.430C>T | p.R144* | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
18 | 17 | 3550792 | C | T | ENST00000576979 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000458457 | CTNS | 1 | - | c.116C>T | p.S39L | non-syn | rs144751390 | 0.0027 | T=28/C=8572;T=2/C=4404;T=30/C=12976 | lod=56:399 | DAMAGING | B | - | het | 5 |
19 | 17 | 3550799 | C | T | ENST00000046640 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000046640 | CTNS | 1 | CTNS_HUMAN | c.123C>T | p.N41N | syn | rs148084080 | - | T=0/C=8600;T=3/C=4403;T=3/C=13003 | lod=56:399 | - | - | - | het | 1 |
20 | 17 | 3550799 | C | T | ENST00000381870 | ENSG00000040531 | 3539762 | 3564836 | ENSP00000371294 | CTNS | 1 | CTNS_HUMAN | c.123C>T | p.N41N | syn | rs148084080 | - | T=0/C=8600;T=3/C=4403;T=3/C=13003 | lod=56:399 | - | - | - | het | 1 |