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 | X | 153770574 | G | A | ENST00000369607 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358620 | IKBKG | 1 | NEMO_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | hom | 1 |
2 | X | 153770574 | G | A | ENST00000369609 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358622 | IKBKG | 1 | NEMO_HUMAN | c.96G>A | p.K32K | syn | NA | - | - | - | - | - | - | hom | 1 |
3 | X | 153770574 | G | A | ENST00000422680 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000390368 | IKBKG | 1 | - | - | - | 5'_UTR | NA | - | - | - | - | - | - | hom | 1 |
4 | X | 153770634 | A | G | ENST00000369609 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358622 | IKBKG | 1 | NEMO_HUMAN | c.156A>G | p.L52L | syn | NA | - | G=0/A=5498;G=4/A=2623;G=4/A=8121 | - | - | - | - | het | 1 |
5 | X | 153770634 | A | G | ENST00000369609 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358622 | IKBKG | 1 | NEMO_HUMAN | c.156A>G | p.L52L | syn | NA | - | G=0/A=5498;G=4/A=2623;G=4/A=8121 | - | - | - | - | hom | 1 |
6 | X | 153770634 | A | G | ENST00000422680 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000390368 | IKBKG | 1 | - | - | - | 5'_UTR | NA | - | G=0/A=5498;G=4/A=2623;G=4/A=8121 | - | - | - | - | het | 1 |
7 | X | 153770634 | A | G | ENST00000422680 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000390368 | IKBKG | 1 | - | - | - | 5'_UTR | NA | - | G=0/A=5498;G=4/A=2623;G=4/A=8121 | - | - | - | - | hom | 1 |
8 | X | 153770679 | G | A | ENST00000369609 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358622 | IKBKG | 1 | NEMO_HUMAN | - | - | +12bp 5'_splice_site | NA | - | - | - | - | - | - | hom | 1 |
9 | X | 153770679 | G | A | ENST00000422680 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000390368 | IKBKG | 1 | - | - | - | +12bp 5'_splice_site | NA | - | - | - | - | - | - | hom | 1 |
10 | X | 153774209 | G | A | ENST00000445622 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000395205 | IKBKG | 1 | - | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
11 | X | 153774219 | G | A | ENST00000445622 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000395205 | IKBKG | 1 | - | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
12 | X | 153780184 | T | C | ENST00000263518 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000263518 | IKBKG | 1 | - | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
13 | X | 153780184 | T | C | ENST00000369601 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358614 | IKBKG | 1 | NEMO_HUMAN | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
14 | X | 153780184 | T | C | ENST00000369602 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358615 | IKBKG | 1 | NEMO_HUMAN | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
15 | X | 153780184 | T | C | ENST00000369606 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358619 | IKBKG | 1 | NEMO_HUMAN | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
16 | X | 153780184 | T | C | ENST00000369607 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358620 | IKBKG | 1 | NEMO_HUMAN | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
17 | X | 153780184 | T | C | ENST00000369609 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000358622 | IKBKG | 1 | NEMO_HUMAN | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
18 | X | 153780184 | T | C | ENST00000393549 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000377180 | IKBKG | 1 | - | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
19 | X | 153780184 | T | C | ENST00000422680 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000390368 | IKBKG | 1 | - | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |
20 | X | 153780184 | T | C | ENST00000440286 | ENSG00000073009 | 153769414 | 153796782 | ENSP00000394934 | IKBKG | 1 | - | - | - | -19bp 3'_splice_site | NA | - | C=2/T=6726;C=1/T=3834;C=3/T=10560 | - | - | - | - | het | 1 |