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 | 3 | 97499441 | T | C | ENST00000335979 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000337722 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | het | 39 |
2 | 3 | 97499441 | T | C | ENST00000335979 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000337722 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | hom | 1 |
3 | 3 | 97499441 | T | C | ENST00000394206 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000377756 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | het | 39 |
4 | 3 | 97499441 | T | C | ENST00000394206 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000377756 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | hom | 1 |
5 | 3 | 97499441 | T | C | ENST00000462412 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000418740 | ARL6 | 1 | - | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | het | 39 |
6 | 3 | 97499441 | T | C | ENST00000462412 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000418740 | ARL6 | 1 | - | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | hom | 1 |
7 | 3 | 97499441 | T | C | ENST00000463745 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000419619 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | het | 39 |
8 | 3 | 97499441 | T | C | ENST00000463745 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000419619 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | hom | 1 |
9 | 3 | 97499441 | T | C | ENST00000493990 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000418057 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | het | 39 |
10 | 3 | 97499441 | T | C | ENST00000493990 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000418057 | ARL6 | 1 | ARL6_HUMAN | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | hom | 1 |
11 | 3 | 97499441 | T | C | ENST00000496713 | ENSG00000113966 | 97483365 | 97519953 | - | ARL6 | 1 | - | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | het | 39 |
12 | 3 | 97499441 | T | C | ENST00000496713 | ENSG00000113966 | 97483365 | 97519953 | - | ARL6 | 1 | - | - | - | -18bp 3'_splice_site | rs77906443 | 0.0663 | C=142/T=8450;C=431/T=3975;C=573/T=12425 | - | - | - | - | hom | 1 |
13 | 3 | 97503861 | A | G | ENST00000335979 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000337722 | ARL6 | 1 | ARL6_HUMAN | c.317A>G | p.K106R | non-syn | NA | - | - | lod=594:652 | TOLERATED | D | - | het | 1 |
14 | 3 | 97503861 | A | G | ENST00000394206 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000377756 | ARL6 | 1 | ARL6_HUMAN | c.317A>G | p.K106R | non-syn | NA | - | - | lod=594:652 | TOLERATED | D | - | het | 1 |
15 | 3 | 97503861 | A | G | ENST00000462412 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000418740 | ARL6 | 1 | - | c.317A>G | p.K106R | non-syn | NA | - | - | lod=594:652 | TOLERATED | D | - | het | 1 |
16 | 3 | 97503861 | A | G | ENST00000463745 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000419619 | ARL6 | 1 | ARL6_HUMAN | c.317A>G | p.K106R | non-syn | NA | - | - | lod=594:652 | TOLERATED | D | - | het | 1 |
17 | 3 | 97503861 | A | G | ENST00000476753 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000419934 | ARL6 | 1 | - | c.1A>G | p.K1E | non-syn | NA | - | - | lod=594:652 | TOLERATED | D | - | het | 1 |
18 | 3 | 97503861 | A | G | ENST00000493990 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000418057 | ARL6 | 1 | ARL6_HUMAN | c.317A>G | p.K106R | non-syn | NA | - | - | lod=594:652 | TOLERATED | D | - | het | 1 |
19 | 3 | 97503861 | A | G | ENST00000496713 | ENSG00000113966 | 97483365 | 97519953 | - | ARL6 | 1 | - | c.555A>G | p.Q185Q | syn | NA | - | - | lod=594:652 | TOLERATED | D | - | het | 1 |
20 | 3 | 97506937 | C | T | ENST00000335979 | ENSG00000113966 | 97483365 | 97519953 | ENSP00000337722 | ARL6 | 1 | ARL6_HUMAN | c.453C>T | p.N151N | syn | NA | - | - | lod=707:670 | - | - | - | het | 3 |