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 | 17 | 74467664 | C | G | ENST00000313080 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000322775 | RHBDF2 | -1 | RHDF2_HUMAN | - | - | 3'_UTR | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | het | 34 |
2 | 17 | 74467664 | C | G | ENST00000313080 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000322775 | RHBDF2 | -1 | RHDF2_HUMAN | - | - | 3'_UTR | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | hom | 2 |
3 | 17 | 74467664 | C | G | ENST00000389760 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000374410 | RHBDF2 | -1 | RHDF2_HUMAN | - | - | 3'_UTR | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | het | 34 |
4 | 17 | 74467664 | C | G | ENST00000389760 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000374410 | RHBDF2 | -1 | RHDF2_HUMAN | - | - | 3'_UTR | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | hom | 2 |
5 | 17 | 74467664 | C | G | ENST00000590168 | ENSG00000129667 | 74466973 | 74497872 | - | RHBDF2 | -1 | - | c.1974G>C | p.L658L | syn | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | het | 34 |
6 | 17 | 74467664 | C | G | ENST00000590168 | ENSG00000129667 | 74466973 | 74497872 | - | RHBDF2 | -1 | - | c.1974G>C | p.L658L | syn | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | hom | 2 |
7 | 17 | 74467664 | C | G | ENST00000591885 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000466867 | RHBDF2 | -1 | RHDF2_HUMAN | - | - | 3'_UTR | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | het | 34 |
8 | 17 | 74467664 | C | G | ENST00000591885 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000466867 | RHBDF2 | -1 | RHDF2_HUMAN | - | - | 3'_UTR | rs76764510 | 0.0769 | G=125/C=8443;G=212/C=4168;G=337/C=12611 | - | - | - | - | hom | 2 |
9 | 17 | 74467755 | C | T | ENST00000313080 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000322775 | RHBDF2 | -1 | RHDF2_HUMAN | c.2531G>A | p.R844H | non-syn | NA | - | T=1/C=8593;T=1/C=4401;T=2/C=12994 | lod=370:601 | TOLERATED | B | - | het | 2 |
10 | 17 | 74467755 | C | T | ENST00000389760 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000374410 | RHBDF2 | -1 | RHDF2_HUMAN | c.2444G>A | p.R815H | non-syn | NA | - | T=1/C=8593;T=1/C=4401;T=2/C=12994 | lod=370:601 | TOLERATED | B | - | het | 2 |
11 | 17 | 74467755 | C | T | ENST00000590168 | ENSG00000129667 | 74466973 | 74497872 | - | RHBDF2 | -1 | - | c.1883G>A | p.R628H | non-syn | NA | - | T=1/C=8593;T=1/C=4401;T=2/C=12994 | lod=370:601 | TOLERATED | B | - | het | 2 |
12 | 17 | 74467755 | C | T | ENST00000591885 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000466867 | RHBDF2 | -1 | RHDF2_HUMAN | c.2444G>A | p.R815H | non-syn | NA | - | T=1/C=8593;T=1/C=4401;T=2/C=12994 | lod=370:601 | TOLERATED | B | - | het | 2 |
13 | 17 | 74467762 | T | G | ENST00000313080 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000322775 | RHBDF2 | -1 | RHDF2_HUMAN | c.2524A>C | p.T842P | non-syn | rs201411643 | - | - | lod=370:601 | DAMAGING | D | - | het | 7 |
14 | 17 | 74467762 | T | G | ENST00000389760 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000374410 | RHBDF2 | -1 | RHDF2_HUMAN | c.2437A>C | p.T813P | non-syn | rs201411643 | - | - | lod=370:601 | DAMAGING | D | - | het | 7 |
15 | 17 | 74467762 | T | G | ENST00000590168 | ENSG00000129667 | 74466973 | 74497872 | - | RHBDF2 | -1 | - | c.1876A>C | p.T626P | non-syn | rs201411643 | - | - | lod=370:601 | DAMAGING | D | - | het | 7 |
16 | 17 | 74467762 | T | G | ENST00000591885 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000466867 | RHBDF2 | -1 | RHDF2_HUMAN | c.2437A>C | p.T813P | non-syn | rs201411643 | - | - | lod=370:601 | DAMAGING | D | - | het | 7 |
17 | 17 | 74467810 | A | G | ENST00000313080 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000322775 | RHBDF2 | -1 | RHDF2_HUMAN | c.2476T>C | p.Y826H | non-syn | NA | - | - | lod=370:601 | TOLERATED | B | - | het | 1 |
18 | 17 | 74467810 | A | G | ENST00000389760 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000374410 | RHBDF2 | -1 | RHDF2_HUMAN | c.2389T>C | p.Y797H | non-syn | NA | - | - | lod=370:601 | TOLERATED | B | - | het | 1 |
19 | 17 | 74467810 | A | G | ENST00000590168 | ENSG00000129667 | 74466973 | 74497872 | - | RHBDF2 | -1 | - | c.1828T>C | p.Y610H | non-syn | NA | - | - | lod=370:601 | TOLERATED | B | - | het | 1 |
20 | 17 | 74467810 | A | G | ENST00000591885 | ENSG00000129667 | 74466973 | 74497872 | ENSP00000466867 | RHBDF2 | -1 | RHDF2_HUMAN | c.2389T>C | p.Y797H | non-syn | NA | - | - | lod=370:601 | TOLERATED | B | - | het | 1 |