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 | 3976365 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | 3'_UTR | NA | - | - | lod=47:381 | - | - | - | hom | 1 |
2 | 19 | 3976422 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
3 | 19 | 3976441 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | 3'_UTR | rs2230567 | 0.2652 | - | - | - | - | - | hom | 1 |
4 | 19 | 3976441 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | 3'_UTR | rs2230567 | 0.2652 | - | - | - | - | - | het | 6 |
5 | 19 | 3976496 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 10 |
6 | 19 | 3976549 | C | T | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | 3'_UTR | rs2230566 | 0.2652 | T=11/C=8587;T=1340/C=3064;T=1351/C=11651 | - | - | - | - | het | 20 |
7 | 19 | 3976599 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2530C>T | p.L844L | syn | rs34012995 | 0.0098 | A=1/G=8597;A=49/G=4357;A=50/G=12954 | lod=210:541 | - | - | - | het | 1 |
8 | 19 | 3976669 | C | G | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2460G>C | p.L820L | syn | rs145279867 | - | G=27/C=8569;G=1/C=4405;G=28/C=12974 | lod=233:552 | - | - | - | het | 5 |
9 | 19 | 3976705 | C | T | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2424G>A | p.A808A | syn | rs2230565 | 0.0509 | T=0/C=8598;T=309/C=4089;T=309/C=12687 | lod=121:482 | - | - | - | het | 3 |
10 | 19 | 3976714 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2415C>T | p.G805G | syn | rs143122141 | - | A=12/G=8582;A=1/G=4391;A=13/G=12973 | lod=23:304 | - | - | - | het | 3 |
11 | 19 | 3976760 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | -15bp 3'_splice_site | rs74724893 | 0.009 | A=56/G=8532;A=5/G=4385;A=61/G=12917 | - | - | - | - | het | 4 |
12 | 19 | 3977217 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2379C>T | p.S793S | syn | rs151205847 | - | A=1/G=8599;A=52/G=4354;A=53/G=12953 | lod=53:393 | - | - | - | het | 1 |
13 | 19 | 3977229 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2367C>T | p.P789P | syn | NA | - | - | lod=143:500 | - | - | - | het | 1 |
14 | 19 | 3977289 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2307C>T | p.H769H | syn | rs35805642 | 0.0121 | A=121/G=8473;A=15/G=4391;A=136/G=12864 | lod=229:550 | - | - | - | het | 35 |
15 | 19 | 3977289 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2307C>T | p.H769H | syn | rs35805642 | 0.0121 | A=121/G=8473;A=15/G=4391;A=136/G=12864 | lod=229:550 | - | - | - | hom | 1 |
16 | 19 | 3977316 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | c.2280C>T | p.Y760Y | syn | NA | - | A=1/G=8589;A=0/G=4398;A=1/G=12987 | lod=54:395 | - | - | - | het | 2 |
17 | 19 | 3977361 | G | C | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | -16bp 3'_splice_site | NA | - | - | - | - | - | - | het | 1 |
18 | 19 | 3977364 | A | T | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | -19bp 3'_splice_site | rs147961884 | 0.0033 | T=28/A=8562;T=2/A=4390;T=30/A=12952 | - | - | - | - | het | 6 |
19 | 19 | 3977413 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | +13bp 5'_splice_site | rs202184545 | - | A=114/G=8484;A=8/G=4392;A=122/G=12876 | - | - | - | - | het | 26 |
20 | 19 | 3977413 | G | A | ENST00000309311 | ENSG00000167658 | 3976054 | 3985467 | ENSP00000307940 | EEF2 | -1 | EF2_HUMAN | - | - | +13bp 5'_splice_site | rs202184545 | - | A=114/G=8484;A=8/G=4392;A=122/G=12876 | - | - | - | - | hom | 1 |