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 | 4 | 155665361 | C | T | ENST00000336356 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000337224 | LRAT | 1 | LRAT_HUMAN | - | - | 5'_UTR | rs113018020 | 0.0128 | - | - | - | - | - | het | 1 |
2 | 4 | 155665361 | C | T | ENST00000510733 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.210C>T | p.L70L | syn | rs113018020 | 0.0128 | - | - | - | - | - | het | 1 |
3 | 4 | 155665683 | C | G | ENST00000336356 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000337224 | LRAT | 1 | LRAT_HUMAN | c.205C>G | p.R69G | non-syn | NA | - | - | lod=353:596 | DAMAGING | P | - | het | 2 |
4 | 4 | 155665683 | C | G | ENST00000502525 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000422324 | LRAT | 1 | - | c.205C>G | p.R69G | non-syn | NA | - | - | lod=353:596 | DAMAGING | P | - | het | 2 |
5 | 4 | 155665683 | C | G | ENST00000507827 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000426761 | LRAT | 1 | LRAT_HUMAN | c.205C>G | p.R69G | non-syn | NA | - | - | lod=353:596 | DAMAGING | P | - | het | 2 |
6 | 4 | 155665683 | C | G | ENST00000510733 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.532C>G | p.R178G | non-syn | NA | - | - | lod=353:596 | DAMAGING | P | - | het | 2 |
7 | 4 | 155665820 | G | A | ENST00000336356 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000337224 | LRAT | 1 | LRAT_HUMAN | c.342G>A | p.E114E | syn | rs17031981 | 0.1907 | A=24/G=8576;A=1395/G=3011;A=1419/G=11587 | lod=161:512 | - | - | - | het | 24 |
8 | 4 | 155665820 | G | A | ENST00000336356 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000337224 | LRAT | 1 | LRAT_HUMAN | c.342G>A | p.E114E | syn | rs17031981 | 0.1907 | A=24/G=8576;A=1395/G=3011;A=1419/G=11587 | lod=161:512 | - | - | - | hom | 1 |
9 | 4 | 155665820 | G | A | ENST00000507827 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000426761 | LRAT | 1 | LRAT_HUMAN | c.342G>A | p.E114E | syn | rs17031981 | 0.1907 | A=24/G=8576;A=1395/G=3011;A=1419/G=11587 | lod=161:512 | - | - | - | het | 24 |
10 | 4 | 155665820 | G | A | ENST00000507827 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000426761 | LRAT | 1 | LRAT_HUMAN | c.342G>A | p.E114E | syn | rs17031981 | 0.1907 | A=24/G=8576;A=1395/G=3011;A=1419/G=11587 | lod=161:512 | - | - | - | hom | 1 |
11 | 4 | 155665820 | G | A | ENST00000510733 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.669G>A | p.E223E | syn | rs17031981 | 0.1907 | A=24/G=8576;A=1395/G=3011;A=1419/G=11587 | lod=161:512 | - | - | - | het | 24 |
12 | 4 | 155665820 | G | A | ENST00000510733 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.669G>A | p.E223E | syn | rs17031981 | 0.1907 | A=24/G=8576;A=1395/G=3011;A=1419/G=11587 | lod=161:512 | - | - | - | hom | 1 |
13 | 4 | 155670198 | G | A | ENST00000336356 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000337224 | LRAT | 1 | LRAT_HUMAN | c.603G>A | p.L201L | syn | NA | - | - | lod=57:401 | - | - | - | het | 1 |
14 | 4 | 155670198 | G | A | ENST00000502474 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.398G>A | p.W133* | non-syn | NA | - | - | lod=57:401 | - | - | - | het | 1 |
15 | 4 | 155670198 | G | A | ENST00000507827 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000426761 | LRAT | 1 | LRAT_HUMAN | c.603G>A | p.L201L | syn | NA | - | - | lod=57:401 | - | - | - | het | 1 |
16 | 4 | 155670198 | G | A | ENST00000510733 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.930G>A | p.L310L | syn | NA | - | - | lod=57:401 | - | - | - | het | 1 |
17 | 4 | 155670198 | G | A | ENST00000510919 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.359G>A | p.W120* | non-syn | NA | - | - | lod=57:401 | - | - | - | het | 1 |
18 | 4 | 155670222 | G | A | ENST00000336356 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000337224 | LRAT | 1 | LRAT_HUMAN | c.627G>A | p.T209T | syn | rs146717374 | 0.0085 | A=1/G=8599;A=66/G=4340;A=67/G=12939 | lod=21:295 | - | - | - | het | 1 |
19 | 4 | 155670222 | G | A | ENST00000502474 | ENSG00000121207 | 155548097 | 155674270 | - | LRAT | 1 | - | c.422G>A | p.R141Q | non-syn | rs146717374 | 0.0085 | A=1/G=8599;A=66/G=4340;A=67/G=12939 | lod=21:295 | - | - | - | het | 1 |
20 | 4 | 155670222 | G | A | ENST00000507827 | ENSG00000121207 | 155548097 | 155674270 | ENSP00000426761 | LRAT | 1 | LRAT_HUMAN | c.627G>A | p.T209T | syn | rs146717374 | 0.0085 | A=1/G=8599;A=66/G=4340;A=67/G=12939 | lod=21:295 | - | - | - | het | 1 |