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 | X | 135278916 | G | T | ENST00000539015 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000437673 | FHL1 | 1 | FHL1_HUMAN | - | - | 5'_UTR | NA | - | - | lod=59:405 | - | - | - | hom | 1 |
2 | X | 135288752 | C | T | ENST00000345434 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000071281 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
3 | X | 135288752 | C | T | ENST00000345434 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000071281 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
4 | X | 135288752 | C | T | ENST00000370674 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359708 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
5 | X | 135288752 | C | T | ENST00000370674 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359708 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
6 | X | 135288752 | C | T | ENST00000370676 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359710 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
7 | X | 135288752 | C | T | ENST00000370676 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359710 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
8 | X | 135288752 | C | T | ENST00000370683 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359717 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
9 | X | 135288752 | C | T | ENST00000370683 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359717 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
10 | X | 135288752 | C | T | ENST00000370690 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359724 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
11 | X | 135288752 | C | T | ENST00000370690 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000359724 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
12 | X | 135288752 | C | T | ENST00000394153 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000377709 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
13 | X | 135288752 | C | T | ENST00000394153 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000377709 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
14 | X | 135288752 | C | T | ENST00000394155 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000377710 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
15 | X | 135288752 | C | T | ENST00000394155 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000377710 | FHL1 | 1 | FHL1_HUMAN | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
16 | X | 135288752 | C | T | ENST00000420362 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000391779 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
17 | X | 135288752 | C | T | ENST00000420362 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000391779 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
18 | X | 135288752 | C | T | ENST00000434885 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000413798 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |
19 | X | 135288752 | C | T | ENST00000434885 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000413798 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | het | 2 |
20 | X | 135288752 | C | T | ENST00000449474 | ENSG00000022267 | 135229559 | 135293518 | ENSP00000414604 | FHL1 | 1 | - | - | - | +5bp 5'_splice_site | rs182106777 | 0.0143 | T=0/C=6728;T=70/C=3765;T=70/C=10493 | - | - | - | - | hom | 1 |