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 | 51848524 | C | T | ENST00000309244 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000311930 | ETFB | -1 | ETFB_HUMAN | c.709G>A | p.V237I | non-syn | rs149129214 | - | T=4/C=8596;T=0/C=4406;T=4/C=13002 | lod=90:450 | TOLERATED | B | - | het | 3 |
2 | 19 | 51848524 | C | T | ENST00000354232 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000346173 | ETFB | -1 | ETFB_HUMAN | c.982G>A | p.V328I | non-syn | rs149129214 | - | T=4/C=8596;T=0/C=4406;T=4/C=13002 | lod=90:450 | TOLERATED | B | - | het | 3 |
3 | 19 | 51849707 | T | +C | ENST00000594361 | ENSG00000105379 | 51848423 | 51869672 | - | ETFB | -1 | - | c.2077_2078insG | p.D693NA | non-syn | rs78970555 | - | - | - | - | - | - | het | 1 |
4 | 19 | 51850121 | C | T | ENST00000594361 | ENSG00000105379 | 51848423 | 51869672 | - | ETFB | -1 | - | c.1664G>A | p.W555* | non-syn | rs10422912 | 0.0925 | T=6/C=8072;T=454/C=3680;T=460/C=11752 | - | - | - | - | het | 4 |
5 | 19 | 51850174 | C | T | ENST00000309244 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000311930 | ETFB | -1 | ETFB_HUMAN | c.577G>A | p.A193T | non-syn | rs200186078 | - | T=2/C=8562;T=0/C=4374;T=2/C=12936 | lod=259:563 | DAMAGING | P | - | het | 1 |
6 | 19 | 51850174 | C | T | ENST00000354232 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000346173 | ETFB | -1 | ETFB_HUMAN | c.850G>A | p.A284T | non-syn | rs200186078 | - | T=2/C=8562;T=0/C=4374;T=2/C=12936 | lod=259:563 | DAMAGING | P | - | het | 1 |
7 | 19 | 51850174 | C | T | ENST00000594361 | ENSG00000105379 | 51848423 | 51869672 | - | ETFB | -1 | - | c.1611G>A | p.T537T | syn | rs200186078 | - | T=2/C=8562;T=0/C=4374;T=2/C=12936 | lod=259:563 | DAMAGING | P | - | het | 1 |
8 | 19 | 51850174 | C | T | ENST00000596253 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000469628 | ETFB | -1 | - | c.418G>A | p.A140T | non-syn | rs200186078 | - | T=2/C=8562;T=0/C=4374;T=2/C=12936 | lod=259:563 | DAMAGING | P | - | het | 1 |
9 | 19 | 51850290 | G | A | ENST00000309244 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000311930 | ETFB | -1 | ETFB_HUMAN | c.461C>T | p.T154M | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | het | 491 |
10 | 19 | 51850290 | G | A | ENST00000309244 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000311930 | ETFB | -1 | ETFB_HUMAN | c.461C>T | p.T154M | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | hom | 280 |
11 | 19 | 51850290 | G | A | ENST00000354232 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000346173 | ETFB | -1 | ETFB_HUMAN | c.734C>T | p.T245M | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | het | 491 |
12 | 19 | 51850290 | G | A | ENST00000354232 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000346173 | ETFB | -1 | ETFB_HUMAN | c.734C>T | p.T245M | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | hom | 280 |
13 | 19 | 51850290 | G | A | ENST00000594361 | ENSG00000105379 | 51848423 | 51869672 | - | ETFB | -1 | - | c.1495C>T | p.R499C | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | het | 491 |
14 | 19 | 51850290 | G | A | ENST00000594361 | ENSG00000105379 | 51848423 | 51869672 | - | ETFB | -1 | - | c.1495C>T | p.R499C | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | hom | 280 |
15 | 19 | 51850290 | G | A | ENST00000596253 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000469628 | ETFB | -1 | - | c.302C>T | p.T101M | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | het | 491 |
16 | 19 | 51850290 | G | A | ENST00000596253 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000469628 | ETFB | -1 | - | c.302C>T | p.T101M | non-syn | rs1130426 | 0.52783 | A=4805/G=3795;A=2242/G=2164;A=7047/G=5959 | lod=120:481 | DAMAGING | P | BGlutaricacidaemia 2b ? | hom | 280 |
17 | 19 | 51850304 | G | A | ENST00000309244 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000311930 | ETFB | -1 | ETFB_HUMAN | c.447C>T | p.F149F | syn | rs144640661 | 0.0334 | A=2/G=8598;A=8/G=4398;A=10/G=12996 | lod=120:481 | - | - | - | het | 6 |
18 | 19 | 51850304 | G | A | ENST00000354232 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000346173 | ETFB | -1 | ETFB_HUMAN | c.720C>T | p.F240F | syn | rs144640661 | 0.0334 | A=2/G=8598;A=8/G=4398;A=10/G=12996 | lod=120:481 | - | - | - | het | 6 |
19 | 19 | 51850304 | G | A | ENST00000594361 | ENSG00000105379 | 51848423 | 51869672 | - | ETFB | -1 | - | c.1481C>T | p.S494L | non-syn | rs144640661 | 0.0334 | A=2/G=8598;A=8/G=4398;A=10/G=12996 | lod=120:481 | - | - | - | het | 6 |
20 | 19 | 51850304 | G | A | ENST00000596253 | ENSG00000105379 | 51848423 | 51869672 | ENSP00000469628 | ETFB | -1 | - | c.288C>T | p.F96F | syn | rs144640661 | 0.0334 | A=2/G=8598;A=8/G=4398;A=10/G=12996 | lod=120:481 | - | - | - | het | 6 |