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 | 186064409 | G | +T | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 4 | 186064419 | C | T | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | - | - | 5'_UTR | rs3733651 | 0.0297 | - | - | - | - | - | het | 4 |
3 | 4 | 186064443 | C | A | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | - | - | 5'_UTR | rs183128370 | 0.0444 | - | - | - | - | - | het | 5 |
4 | 4 | 186064443 | C | A | ENST00000491736 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.12C>A | p.V4V | syn | rs183128370 | 0.0444 | - | - | - | - | - | het | 5 |
5 | 4 | 186064443 | C | A | ENST00000515584 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.12C>A | p.V4V | syn | rs183128370 | 0.0444 | - | - | - | - | - | het | 5 |
6 | 4 | 186064462 | C | T | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | - | - | 5'_UTR | NA | - | - | lod=13:243 | - | - | - | het | 1 |
7 | 4 | 186064462 | C | T | ENST00000491736 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.31C>T | p.P11S | non-syn | NA | - | - | lod=13:243 | - | - | - | het | 1 |
8 | 4 | 186064462 | C | T | ENST00000515584 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.31C>T | p.P11S | non-syn | NA | - | - | lod=13:243 | - | - | - | het | 1 |
9 | 4 | 186064502 | G | A | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | - | - | 5'_UTR | rs3733652 | 0.0726 | A=68/G=6816;A=296/G=3372;A=364/G=10188 | - | - | - | - | het | 24 |
10 | 4 | 186064502 | G | A | ENST00000491736 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.71G>A | p.R24Q | non-syn | rs3733652 | 0.0726 | A=68/G=6816;A=296/G=3372;A=364/G=10188 | - | - | - | - | het | 24 |
11 | 4 | 186064502 | G | A | ENST00000515584 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.71G>A | p.R24Q | non-syn | rs3733652 | 0.0726 | A=68/G=6816;A=296/G=3372;A=364/G=10188 | - | - | - | - | het | 24 |
12 | 4 | 186066073 | C | T | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | c.267C>T | p.F89F | syn | rs148815021 | - | T=1/C=8599;T=0/C=4406;T=1/C=13005 | lod=613:655 | - | - | - | het | 1 |
13 | 4 | 186066073 | C | T | ENST00000491736 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.362C>T | p.S121L | non-syn | rs148815021 | - | T=1/C=8599;T=0/C=4406;T=1/C=13005 | lod=613:655 | - | - | - | het | 1 |
14 | 4 | 186066073 | C | T | ENST00000515584 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.362C>T | p.S121L | non-syn | rs148815021 | - | T=1/C=8599;T=0/C=4406;T=1/C=13005 | lod=613:655 | - | - | - | het | 1 |
15 | 4 | 186066108 | G | A | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | c.302G>A | p.G101E | non-syn | NA | - | C=1/G=8599;C=0/G=4406;C=1/G=13005 | lod=613:655 | TOLERATED | B | - | het | 1 |
16 | 4 | 186066108 | G | A | ENST00000491736 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.397G>A | p.G133R | non-syn | NA | - | C=1/G=8599;C=0/G=4406;C=1/G=13005 | lod=613:655 | TOLERATED | B | - | het | 1 |
17 | 4 | 186066108 | G | A | ENST00000515584 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.397G>A | p.G133R | non-syn | NA | - | C=1/G=8599;C=0/G=4406;C=1/G=13005 | lod=613:655 | TOLERATED | B | - | het | 1 |
18 | 4 | 186066373 | T | C | ENST00000281456 | ENSG00000151729 | 186064395 | 186071536 | ENSP00000281456 | SLC25A4 | 1 | ADT1_HUMAN | c.567T>C | p.A189A | syn | rs149101873 | 0.00564 | C=90/T=8510;C=12/T=4394;C=102/T=12904 | lod=485:630 | - | - | - | het | 14 |
19 | 4 | 186066373 | T | C | ENST00000491736 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.662T>C | p.L221P | non-syn | rs149101873 | 0.00564 | C=90/T=8510;C=12/T=4394;C=102/T=12904 | lod=485:630 | - | - | - | het | 14 |
20 | 4 | 186066373 | T | C | ENST00000515584 | ENSG00000151729 | 186064395 | 186071536 | - | SLC25A4 | 1 | - | c.662T>C | p.L221P | non-syn | rs149101873 | 0.00564 | C=90/T=8510;C=12/T=4394;C=102/T=12904 | lod=485:630 | - | - | - | het | 14 |