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 | 19 | 55663167 | G | A | ENST00000344887 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000341838 | TNNI3 | -1 | TNNI3_HUMAN | - | - | 3'_UTR | NA | - | A=0/G=8270;A=1/G=3843;A=1/G=12113 | - | - | - | - | het | 5 |
2 | 19 | 55663167 | G | A | ENST00000585806 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.667C>T | p.P223S | non-syn | NA | - | A=0/G=8270;A=1/G=3843;A=1/G=12113 | - | - | - | - | het | 5 |
3 | 19 | 55663167 | G | A | ENST00000588882 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000466729 | TNNI3 | -1 | - | - | - | 3'_UTR | NA | - | A=0/G=8270;A=1/G=3843;A=1/G=12113 | - | - | - | - | het | 5 |
4 | 19 | 55663167 | G | A | ENST00000589864 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.496C>T | p.P166S | non-syn | NA | - | A=0/G=8270;A=1/G=3843;A=1/G=12113 | - | - | - | - | het | 5 |
5 | 19 | 55665410 | C | T | ENST00000344887 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000341838 | TNNI3 | -1 | TNNI3_HUMAN | c.537G>A | p.E179E | syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | het | 116 |
6 | 19 | 55665410 | C | T | ENST00000344887 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000341838 | TNNI3 | -1 | TNNI3_HUMAN | c.537G>A | p.E179E | syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | hom | 5 |
7 | 19 | 55665410 | C | T | ENST00000585806 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.536G>A | p.R179K | non-syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | het | 116 |
8 | 19 | 55665410 | C | T | ENST00000585806 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.536G>A | p.R179K | non-syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | hom | 5 |
9 | 19 | 55665410 | C | T | ENST00000588882 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000466729 | TNNI3 | -1 | - | c.462G>A | p.E154E | syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | het | 116 |
10 | 19 | 55665410 | C | T | ENST00000588882 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000466729 | TNNI3 | -1 | - | c.462G>A | p.E154E | syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | hom | 5 |
11 | 19 | 55665410 | C | T | ENST00000589864 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.365G>A | p.R122K | non-syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | het | 116 |
12 | 19 | 55665410 | C | T | ENST00000589864 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.365G>A | p.R122K | non-syn | rs3729841 | 0.05952 | T=555/C=7877;T=53/C=4061;T=608/C=11938 | lod=243:556 | - | - | - | hom | 5 |
13 | 19 | 55665519 | G | T | ENST00000344887 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000341838 | TNNI3 | -1 | TNNI3_HUMAN | c.428C>A | p.T143N | non-syn | NA | - | - | lod=118:479 | TOLERATED | B | - | het | 1 |
14 | 19 | 55665519 | G | T | ENST00000585806 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.427C>A | p.P143T | non-syn | NA | - | - | lod=118:479 | TOLERATED | B | - | het | 1 |
15 | 19 | 55665519 | G | T | ENST00000586669 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.436C>A | p.P146T | non-syn | NA | - | - | lod=118:479 | TOLERATED | B | - | het | 1 |
16 | 19 | 55665519 | G | T | ENST00000588882 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000466729 | TNNI3 | -1 | - | c.353C>A | p.T118N | non-syn | NA | - | - | lod=118:479 | TOLERATED | B | - | het | 1 |
17 | 19 | 55665519 | G | T | ENST00000589864 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | c.256C>A | p.P86T | non-syn | NA | - | - | lod=118:479 | TOLERATED | B | - | het | 1 |
18 | 19 | 55665584 | A | C | ENST00000344887 | ENSG00000129991 | 55663137 | 55669141 | ENSP00000341838 | TNNI3 | -1 | TNNI3_HUMAN | - | - | -10bp 3'_splice_site | rs7252610 | 1 | - | - | - | - | - | hom | 1009 |
19 | 19 | 55665584 | A | C | ENST00000585806 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | - | - | -10bp 3'_splice_site | rs7252610 | 1 | - | - | - | - | - | hom | 1009 |
20 | 19 | 55665584 | A | C | ENST00000586669 | ENSG00000129991 | 55663137 | 55669141 | - | TNNI3 | -1 | - | - | - | -10bp 3'_splice_site | rs7252610 | 1 | - | - | - | - | - | hom | 1009 |