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 | 8 | 27629595 | G | A | ENST00000523566 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428435 | ESCO2 | 1 | - | - | - | +10bp 5'_splice_site | rs1841313 | 0.89642 | - | - | - | - | - | hom | 1 |
2 | 8 | 27634064 | C | T | ENST00000305188 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000306999 | ESCO2 | 1 | ESCO2_HUMAN | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | het | 170 |
3 | 8 | 27634064 | C | T | ENST00000305188 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000306999 | ESCO2 | 1 | ESCO2_HUMAN | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | hom | 10 |
4 | 8 | 27634064 | C | T | ENST00000397418 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000380563 | ESCO2 | 1 | - | - | - | 5'_UTR | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | het | 170 |
5 | 8 | 27634064 | C | T | ENST00000397418 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000380563 | ESCO2 | 1 | - | - | - | 5'_UTR | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | hom | 10 |
6 | 8 | 27634064 | C | T | ENST00000519637 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428027 | ESCO2 | 1 | - | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | het | 170 |
7 | 8 | 27634064 | C | T | ENST00000519637 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428027 | ESCO2 | 1 | - | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | hom | 10 |
8 | 8 | 27634064 | C | T | ENST00000522378 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428928 | ESCO2 | 1 | - | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | het | 170 |
9 | 8 | 27634064 | C | T | ENST00000522378 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428928 | ESCO2 | 1 | - | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | hom | 10 |
10 | 8 | 27634064 | C | T | ENST00000523566 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428435 | ESCO2 | 1 | - | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | het | 170 |
11 | 8 | 27634064 | C | T | ENST00000523566 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428435 | ESCO2 | 1 | - | c.239C>T | p.A80V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | hom | 10 |
12 | 8 | 27634064 | C | T | ENST00000523910 | ENSG00000171320 | 27629466 | 27670157 | - | ESCO2 | 1 | - | c.38C>T | p.A13V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | het | 170 |
13 | 8 | 27634064 | C | T | ENST00000523910 | ENSG00000171320 | 27629466 | 27670157 | - | ESCO2 | 1 | - | c.38C>T | p.A13V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | hom | 10 |
14 | 8 | 27634064 | C | T | ENST00000524293 | ENSG00000171320 | 27629466 | 27670157 | - | ESCO2 | 1 | - | c.257C>T | p.A86V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | het | 170 |
15 | 8 | 27634064 | C | T | ENST00000524293 | ENSG00000171320 | 27629466 | 27670157 | - | ESCO2 | 1 | - | c.257C>T | p.A86V | non-syn | rs4732748 | 0.191 | T=854/C=7746;T=430/C=3976;T=1284/C=11722 | lod=142:499 | TOLERATED | B | HGMD | hom | 10 |
16 | 8 | 27634150 | T | C | ENST00000305188 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000306999 | ESCO2 | 1 | ESCO2_HUMAN | c.325T>C | p.C109R | non-syn | rs199653554 | - | C=2/T=8598;C=0/T=4406;C=2/T=13004 | - | TOLERATED | D | - | het | 3 |
17 | 8 | 27634150 | T | C | ENST00000397418 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000380563 | ESCO2 | 1 | - | - | - | 5'_UTR | rs199653554 | - | C=2/T=8598;C=0/T=4406;C=2/T=13004 | - | TOLERATED | D | - | het | 3 |
18 | 8 | 27634150 | T | C | ENST00000519637 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428027 | ESCO2 | 1 | - | c.325T>C | p.C109R | non-syn | rs199653554 | - | C=2/T=8598;C=0/T=4406;C=2/T=13004 | - | TOLERATED | D | - | het | 3 |
19 | 8 | 27634150 | T | C | ENST00000522378 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428928 | ESCO2 | 1 | - | c.325T>C | p.C109R | non-syn | rs199653554 | - | C=2/T=8598;C=0/T=4406;C=2/T=13004 | - | TOLERATED | D | - | het | 3 |
20 | 8 | 27634150 | T | C | ENST00000523566 | ENSG00000171320 | 27629466 | 27670157 | ENSP00000428435 | ESCO2 | 1 | - | c.325T>C | p.C109R | non-syn | rs199653554 | - | C=2/T=8598;C=0/T=4406;C=2/T=13004 | - | TOLERATED | D | - | het | 3 |