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 | 1 | 11333294 | C | T | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 5'_UTR | NA | - | - | lod=28:325 | - | - | - | het | 1 |
2 | 1 | 11333440 | C | T | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
3 | 1 | 11333471 | C | G | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
4 | 1 | 11333542 | T | G | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 5'_UTR | rs72856992 | 0.1349 | G=8/T=8506;G=744/T=3620;G=752/T=12126 | - | - | - | - | het | 13 |
5 | 1 | 11333568 | C | T | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 3 |
6 | 1 | 11333812 | C | T | ENST00000376804 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366000 | UBIAD1 | 1 | UBIA1_HUMAN | c.224C>T | p.S75F | non-syn | rs114000606 | 0.008 | T=105/C=8495;T=9/C=4397;T=114/C=12892 | lod=300:579 | DAMAGING | B | - | het | 23 |
7 | 1 | 11333812 | C | T | ENST00000376804 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366000 | UBIAD1 | 1 | UBIA1_HUMAN | c.224C>T | p.S75F | non-syn | rs114000606 | 0.008 | T=105/C=8495;T=9/C=4397;T=114/C=12892 | lod=300:579 | DAMAGING | B | - | hom | 1 |
8 | 1 | 11333812 | C | T | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | c.224C>T | p.S75F | non-syn | rs114000606 | 0.008 | T=105/C=8495;T=9/C=4397;T=114/C=12892 | lod=300:579 | DAMAGING | B | - | het | 23 |
9 | 1 | 11333812 | C | T | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | c.224C>T | p.S75F | non-syn | rs114000606 | 0.008 | T=105/C=8495;T=9/C=4397;T=114/C=12892 | lod=300:579 | DAMAGING | B | - | hom | 1 |
10 | 1 | 11333818 | G | A | ENST00000376804 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366000 | UBIAD1 | 1 | UBIA1_HUMAN | c.230G>A | p.G77D | non-syn | rs201583978 | - | A=1/G=8599;A=0/G=4406;A=1/G=13005 | lod=300:579 | TOLERATED | P | - | het | 1 |
11 | 1 | 11333818 | G | A | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | c.230G>A | p.G77D | non-syn | rs201583978 | - | A=1/G=8599;A=0/G=4406;A=1/G=13005 | lod=300:579 | TOLERATED | P | - | het | 1 |
12 | 1 | 11333870 | G | T | ENST00000376804 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366000 | UBIAD1 | 1 | UBIA1_HUMAN | c.282G>T | p.V94V | syn | rs144106336 | - | T=3/G=8597;T=0/G=4406;T=3/G=13003 | lod=391:607 | - | - | - | het | 1 |
13 | 1 | 11333870 | G | T | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | c.282G>T | p.V94V | syn | rs144106336 | - | T=3/G=8597;T=0/G=4406;T=3/G=13003 | lod=391:607 | - | - | - | het | 1 |
14 | 1 | 11345813 | A | G | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | c.642A>G | p.P214P | syn | NA | - | - | lod=135:493 | - | - | - | het | 1 |
15 | 1 | 11346186 | T | A | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | c.1015T>A | p.*339K | non-syn | NA | - | - | - | TOLERATED | NA | - | het | 1 |
16 | 1 | 11346336 | A | G | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 3'_UTR | rs11580061 | 0.02834 | - | - | - | - | - | het | 44 |
17 | 1 | 11346427 | G | A | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 4 |
18 | 1 | 11346621 | G | A | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
19 | 1 | 11346720 | C | T | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 3'_UTR | rs143316482 | 0.0114 | - | lod=14:251 | - | - | - | het | 1 |
20 | 1 | 11346800 | T | C | ENST00000376810 | ENSG00000120942 | 11333263 | 11356106 | ENSP00000366006 | UBIAD1 | 1 | UBIA1_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |