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 | 10 | 225960 | G | A | ENST00000309776 | ENSG00000015171 | 180405 | 300577 | ENSP00000309992 | ZMYND11 | 1 | ZMY11_HUMAN | - | - | 5'_UTR | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
2 | 10 | 225960 | G | A | ENST00000381584 | ENSG00000015171 | 180405 | 300577 | ENSP00000370996 | ZMYND11 | 1 | - | - | - | 5'_UTR | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
3 | 10 | 225960 | G | A | ENST00000381591 | ENSG00000015171 | 180405 | 300577 | ENSP00000371003 | ZMYND11 | 1 | ZMY11_HUMAN | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
4 | 10 | 225960 | G | A | ENST00000381602 | ENSG00000015171 | 180405 | 300577 | ENSP00000371015 | ZMYND11 | 1 | - | - | - | 5'_UTR | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
5 | 10 | 225960 | G | A | ENST00000381604 | ENSG00000015171 | 180405 | 300577 | ENSP00000371017 | ZMYND11 | 1 | ZMY11_HUMAN | - | - | 5'_UTR | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
6 | 10 | 225960 | G | A | ENST00000381607 | ENSG00000015171 | 180405 | 300577 | ENSP00000371020 | ZMYND11 | 1 | - | - | - | 5'_UTR | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
7 | 10 | 225960 | G | A | ENST00000397955 | ENSG00000015171 | 180405 | 300577 | ENSP00000381046 | ZMYND11 | 1 | - | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
8 | 10 | 225960 | G | A | ENST00000397959 | ENSG00000015171 | 180405 | 300577 | ENSP00000381050 | ZMYND11 | 1 | ZMY11_HUMAN | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
9 | 10 | 225960 | G | A | ENST00000397962 | ENSG00000015171 | 180405 | 300577 | ENSP00000381053 | ZMYND11 | 1 | ZMY11_HUMAN | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
10 | 10 | 225960 | G | A | ENST00000402736 | ENSG00000015171 | 180405 | 300577 | ENSP00000386010 | ZMYND11 | 1 | - | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
11 | 10 | 225960 | G | A | ENST00000403354 | ENSG00000015171 | 180405 | 300577 | ENSP00000385484 | ZMYND11 | 1 | - | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
12 | 10 | 225960 | G | A | ENST00000439456 | ENSG00000015171 | 180405 | 300577 | ENSP00000397072 | ZMYND11 | 1 | - | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
13 | 10 | 225960 | G | A | ENST00000509513 | ENSG00000015171 | 180405 | 300577 | ENSP00000424205 | ZMYND11 | 1 | - | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
14 | 10 | 225960 | G | A | ENST00000558098 | ENSG00000015171 | 180405 | 300577 | ENSP00000452959 | ZMYND11 | 1 | - | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
15 | 10 | 225960 | G | A | ENST00000602682 | ENSG00000015171 | 180405 | 300577 | ENSP00000473321 | ZMYND11 | 1 | - | c.8G>A | p.R3H | non-syn | NA | - | A=4/G=7160;A=0/G=3136;A=4/G=10296 | lod=926:699 | DAMAGING | - | - | het | 1 |
16 | 10 | 243934 | T | A | ENST00000381584 | ENSG00000015171 | 180405 | 300577 | ENSP00000370996 | ZMYND11 | 1 | - | c.54T>A | p.I18I | syn | NA | - | - | - | - | - | - | het | 1 |
17 | 10 | 243934 | T | A | ENST00000381604 | ENSG00000015171 | 180405 | 300577 | ENSP00000371017 | ZMYND11 | 1 | ZMY11_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
18 | 10 | 255810 | G | A | ENST00000309776 | ENSG00000015171 | 180405 | 300577 | ENSP00000309992 | ZMYND11 | 1 | ZMY11_HUMAN | - | - | -19bp 3'_splice_site | rs200268452 | - | A=7/G=8593;A=0/G=4406;A=7/G=12999 | - | - | - | - | het | 3 |
19 | 10 | 255810 | G | A | ENST00000381584 | ENSG00000015171 | 180405 | 300577 | ENSP00000370996 | ZMYND11 | 1 | - | - | - | -19bp 3'_splice_site | rs200268452 | - | A=7/G=8593;A=0/G=4406;A=7/G=12999 | - | - | - | - | het | 3 |
20 | 10 | 255810 | G | A | ENST00000381591 | ENSG00000015171 | 180405 | 300577 | ENSP00000371003 | ZMYND11 | 1 | ZMY11_HUMAN | - | - | -19bp 3'_splice_site | rs200268452 | - | A=7/G=8593;A=0/G=4406;A=7/G=12999 | - | - | - | - | het | 3 |