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 | 5 | 110427524 | C | T | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 6 |
2 | 5 | 110427637 | G | A | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | - | - | 5'_UTR | rs144605000 | 0.01284 | - | - | - | - | - | het | 5 |
3 | 5 | 110427752 | A | G | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | - | - | 5'_UTR | rs72776797 | 0.3206 | - | - | - | - | - | het | 193 |
4 | 5 | 110427752 | A | G | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | - | - | 5'_UTR | rs72776797 | 0.3206 | - | - | - | - | - | hom | 31 |
5 | 5 | 110427795 | C | T | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | - | - | 5'_UTR | rs79881201 | 0.32895 | - | - | - | - | - | het | 327 |
6 | 5 | 110427795 | C | T | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | - | - | 5'_UTR | rs79881201 | 0.32895 | - | - | - | - | - | hom | 79 |
7 | 5 | 110428029 | C | T | ENST00000505303 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000422158 | WDR36 | 1 | - | - | - | 5'_UTR | NA | - | - | - | DAMAGING | P | - | hom | 1 |
8 | 5 | 110428029 | C | T | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | c.43C>T | p.R15W | non-syn | NA | - | - | - | DAMAGING | P | - | hom | 1 |
9 | 5 | 110428029 | C | T | ENST00000513710 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000424628 | WDR36 | 1 | WDR36_HUMAN | c.43C>T | p.R15W | non-syn | NA | - | - | - | DAMAGING | P | - | hom | 1 |
10 | 5 | 110428060 | T | C | ENST00000505303 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000422158 | WDR36 | 1 | - | - | - | 5'_UTR | rs145437203 | 0.0114 | C=100/T=8500;C=15/T=4389;C=115/T=12889 | - | DAMAGING | B | HGMD | het | 12 |
11 | 5 | 110428060 | T | C | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | c.74T>C | p.L25P | non-syn | rs145437203 | 0.0114 | C=100/T=8500;C=15/T=4389;C=115/T=12889 | - | DAMAGING | B | HGMD | het | 12 |
12 | 5 | 110428060 | T | C | ENST00000513710 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000424628 | WDR36 | 1 | WDR36_HUMAN | c.74T>C | p.L25P | non-syn | rs145437203 | 0.0114 | C=100/T=8500;C=15/T=4389;C=115/T=12889 | - | DAMAGING | B | HGMD | het | 12 |
13 | 5 | 110428060 | T | C | ENST00000515784 | ENSG00000134987 | 110427414 | 110466200 | - | WDR36 | 1 | - | c.16T>C | p.S6P | non-syn | rs145437203 | 0.0114 | C=100/T=8500;C=15/T=4389;C=115/T=12889 | - | DAMAGING | B | HGMD | het | 12 |
14 | 5 | 110428085 | C | G | ENST00000505303 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000422158 | WDR36 | 1 | - | - | - | 5'_UTR | rs35629723 | 0.006 | G=64/C=8536;G=2/C=4402;G=66/C=12938 | - | DAMAGING | B | Glaucoma, primary open angle | het | 4 |
15 | 5 | 110428085 | C | G | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | c.99C>G | p.D33E | non-syn | rs35629723 | 0.006 | G=64/C=8536;G=2/C=4402;G=66/C=12938 | - | DAMAGING | B | Glaucoma, primary open angle | het | 4 |
16 | 5 | 110428085 | C | G | ENST00000513710 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000424628 | WDR36 | 1 | WDR36_HUMAN | c.99C>G | p.D33E | non-syn | rs35629723 | 0.006 | G=64/C=8536;G=2/C=4402;G=66/C=12938 | - | DAMAGING | B | Glaucoma, primary open angle | het | 4 |
17 | 5 | 110428085 | C | G | ENST00000515784 | ENSG00000134987 | 110427414 | 110466200 | - | WDR36 | 1 | - | c.41C>G | p.T14R | non-syn | rs35629723 | 0.006 | G=64/C=8536;G=2/C=4402;G=66/C=12938 | - | DAMAGING | B | Glaucoma, primary open angle | het | 4 |
18 | 5 | 110428098 | C | T | ENST00000505303 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000422158 | WDR36 | 1 | - | - | - | 5'_UTR | rs139198693 | - | T=1/C=8599;T=0/C=4404;T=1/C=13003 | - | - | - | - | het | 3 |
19 | 5 | 110428098 | C | T | ENST00000506538 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000423067 | WDR36 | 1 | WDR36_HUMAN | c.112C>T | p.L38L | syn | rs139198693 | - | T=1/C=8599;T=0/C=4404;T=1/C=13003 | - | - | - | - | het | 3 |
20 | 5 | 110428098 | C | T | ENST00000513710 | ENSG00000134987 | 110427414 | 110466200 | ENSP00000424628 | WDR36 | 1 | WDR36_HUMAN | c.112C>T | p.L38L | syn | rs139198693 | - | T=1/C=8599;T=0/C=4404;T=1/C=13003 | - | - | - | - | het | 3 |