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 | 16 | 58035337 | G | C | ENST00000219281 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000219281 | USB1 | 1 | USB1_HUMAN | - | - | 5'_UTR | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
2 | 16 | 58035337 | G | C | ENST00000423271 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000409792 | USB1 | 1 | USB1_HUMAN | - | - | 5'_UTR | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
3 | 16 | 58035337 | G | C | ENST00000539737 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000446143 | USB1 | 1 | USB1_HUMAN | - | - | 5'_UTR | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
4 | 16 | 58035337 | G | C | ENST00000561568 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000457322 | USB1 | 1 | - | - | - | 5'_UTR | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
5 | 16 | 58035337 | G | C | ENST00000562534 | ENSG00000103005 | 58033450 | 58055522 | - | USB1 | 1 | - | c.18G>C | p.V6V | syn | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
6 | 16 | 58035337 | G | C | ENST00000563149 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000454692 | USB1 | 1 | - | - | - | 5'_UTR | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
7 | 16 | 58035337 | G | C | ENST00000563207 | ENSG00000103005 | 58033450 | 58055522 | - | USB1 | 1 | - | c.10G>C | p.A4P | non-syn | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
8 | 16 | 58035337 | G | C | ENST00000564387 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000457302 | USB1 | 1 | - | - | - | 5'_UTR | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
9 | 16 | 58035337 | G | C | ENST00000565662 | ENSG00000103005 | 58033450 | 58055522 | - | USB1 | 1 | - | c.27G>C | p.V9V | syn | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
10 | 16 | 58035337 | G | C | ENST00000566292 | ENSG00000103005 | 58033450 | 58055522 | - | USB1 | 1 | - | c.18G>C | p.V6V | syn | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
11 | 16 | 58035337 | G | C | ENST00000568848 | ENSG00000103005 | 58033450 | 58055522 | - | USB1 | 1 | - | c.15G>C | p.V5V | syn | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
12 | 16 | 58035337 | G | C | ENST00000569252 | ENSG00000103005 | 58033450 | 58055522 | - | USB1 | 1 | - | c.18G>C | p.V6V | syn | rs73546949 | 0.0221 | C=0/G=8314;C=44/G=4132;C=44/G=12446 | - | - | - | - | het | 1 |
13 | 16 | 58035429 | C | A | ENST00000219281 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000219281 | USB1 | 1 | USB1_HUMAN | c.42C>A | p.S14S | syn | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | het | 62 |
14 | 16 | 58035429 | C | A | ENST00000219281 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000219281 | USB1 | 1 | USB1_HUMAN | c.42C>A | p.S14S | syn | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | hom | 3 |
15 | 16 | 58035429 | C | A | ENST00000423271 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000409792 | USB1 | 1 | USB1_HUMAN | c.42C>A | p.S14S | syn | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | het | 62 |
16 | 16 | 58035429 | C | A | ENST00000423271 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000409792 | USB1 | 1 | USB1_HUMAN | c.42C>A | p.S14S | syn | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | hom | 3 |
17 | 16 | 58035429 | C | A | ENST00000539737 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000446143 | USB1 | 1 | USB1_HUMAN | c.42C>A | p.S14S | syn | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | het | 62 |
18 | 16 | 58035429 | C | A | ENST00000539737 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000446143 | USB1 | 1 | USB1_HUMAN | c.42C>A | p.S14S | syn | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | hom | 3 |
19 | 16 | 58035429 | C | A | ENST00000561568 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000457322 | USB1 | 1 | - | - | - | 5'_UTR | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | het | 62 |
20 | 16 | 58035429 | C | A | ENST00000561568 | ENSG00000103005 | 58033450 | 58055522 | ENSP00000457322 | USB1 | 1 | - | - | - | 5'_UTR | rs3743559 | 0.0726 | A=699/C=7891;A=72/C=4290;A=771/C=12181 | lod=143:500 | - | - | - | hom | 3 |