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 | 1 | 95448400 | A | C | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | - | - | 3'_UTR | rs149024884 | 0.0038 | - | - | - | - | - | het | 3 |
2 | 1 | 95448561 | G | -T | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 8 |
3 | 1 | 95448578 | T | C | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | - | - | 3'_UTR | rs79206206 | 0.00271 | - | - | - | - | - | het | 4 |
4 | 1 | 95448619 | C | T | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | - | - | 3'_UTR | rs143040411 | 0.00185 | T=6/C=8594;T=1/C=4405;T=7/C=12999 | - | - | - | - | het | 2 |
5 | 1 | 95448861 | A | C | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | c.422T>G | p.V141G | non-syn | rs139005007 | - | G=0/A=8600;G=1/A=4405;G=1/A=13005 | lod=37:355 | DAMAGING | D | - | het | 1 |
6 | 1 | 95492814 | A | G | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | c.291T>C | p.Y97Y | syn | rs199810632 | - | - | - | - | - | - | het | 1 |
7 | 1 | 95530411 | T | C | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | - | - | +11bp 5'_splice_site | rs151088933 | 0.0274 | C=2/T=8596;C=1/T=4403;C=3/T=12999 | - | - | - | - | het | 4 |
8 | 1 | 95530411 | T | C | ENST00000495856 | ENSG00000172339 | 95439963 | 95538501 | - | ALG14 | -1 | - | - | - | +11bp 5'_splice_site | rs151088933 | 0.0274 | C=2/T=8596;C=1/T=4403;C=3/T=12999 | - | - | - | - | het | 4 |
9 | 1 | 95530591 | A | T | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | - | - | -18bp 3'_splice_site | rs12751061 | 0.06593 | T=872/A=7728;T=223/A=4181;T=1095/A=11909 | - | - | - | - | het | 151 |
10 | 1 | 95530591 | A | T | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | - | - | -18bp 3'_splice_site | rs12751061 | 0.06593 | T=872/A=7728;T=223/A=4181;T=1095/A=11909 | - | - | - | - | hom | 8 |
11 | 1 | 95530591 | A | T | ENST00000495856 | ENSG00000172339 | 95439963 | 95538501 | - | ALG14 | -1 | - | - | - | -18bp 3'_splice_site | rs12751061 | 0.06593 | T=872/A=7728;T=223/A=4181;T=1095/A=11909 | - | - | - | - | het | 151 |
12 | 1 | 95530591 | A | T | ENST00000495856 | ENSG00000172339 | 95439963 | 95538501 | - | ALG14 | -1 | - | - | - | -18bp 3'_splice_site | rs12751061 | 0.06593 | T=872/A=7728;T=223/A=4181;T=1095/A=11909 | - | - | - | - | hom | 8 |
13 | 1 | 95538342 | C | A | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | c.113G>T | p.S38I | non-syn | rs139521179 | 0.001 | A=40/C=8560;A=3/C=4403;A=43/C=12963 | lod=25:313 | TOLERATED | B | - | het | 5 |
14 | 1 | 95538342 | C | A | ENST00000495856 | ENSG00000172339 | 95439963 | 95538501 | - | ALG14 | -1 | - | c.89G>T | p.S30I | non-syn | rs139521179 | 0.001 | A=40/C=8560;A=3/C=4403;A=43/C=12963 | lod=25:313 | TOLERATED | B | - | het | 5 |
15 | 1 | 95538357 | G | A | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | c.98C>T | p.P33L | non-syn | rs200080963 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | - | TOLERATED | B | - | het | 1 |
16 | 1 | 95538357 | G | A | ENST00000495856 | ENSG00000172339 | 95439963 | 95538501 | - | ALG14 | -1 | - | c.74C>T | p.P25L | non-syn | rs200080963 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | - | TOLERATED | B | - | het | 1 |
17 | 1 | 95538415 | C | T | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | c.40G>A | p.V14M | non-syn | rs11165298 | - | T=0/C=8600;T=10/C=4396;T=10/C=12996 | - | DAMAGING | B | - | het | 1 |
18 | 1 | 95538415 | C | T | ENST00000495856 | ENSG00000172339 | 95439963 | 95538501 | - | ALG14 | -1 | - | c.16G>A | p.V6M | non-syn | rs11165298 | - | T=0/C=8600;T=10/C=4396;T=10/C=12996 | - | DAMAGING | B | - | het | 1 |
19 | 1 | 95538424 | C | T | ENST00000370205 | ENSG00000172339 | 95439963 | 95538501 | ENSP00000359224 | ALG14 | -1 | ALG14_HUMAN | c.31G>A | p.A11T | non-syn | rs34364382 | 0.0094 | T=101/C=8499;T=6/C=4400;T=107/C=12899 | - | TOLERATED | B | - | het | 23 |
20 | 1 | 95538424 | C | T | ENST00000495856 | ENSG00000172339 | 95439963 | 95538501 | - | ALG14 | -1 | - | c.7G>A | p.A3T | non-syn | rs34364382 | 0.0094 | T=101/C=8499;T=6/C=4400;T=107/C=12899 | - | TOLERATED | B | - | het | 23 |