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 | 152990663 | C | T | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | - | - | 5'_UTR | rs4148030 | 0.0798 | - | lod=21:295 | - | - | - | het | 62 |
2 | X | 152990663 | C | T | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | - | - | 5'_UTR | rs4148030 | 0.0798 | - | lod=21:295 | - | - | - | hom | 32 |
3 | X | 152990759 | A | C | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.38A>C | p.N13T | non-syn | rs183021839 | 0.0018 | C=3/A=5648;C=0/A=3271;C=3/A=8919 | lod=39:361 | TOLERATED | B | - | hom | 2 |
4 | X | 152990759 | A | C | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.38A>C | p.N13T | non-syn | rs183021839 | 0.0018 | C=3/A=5648;C=0/A=3271;C=3/A=8919 | lod=39:361 | TOLERATED | B | - | het | 3 |
5 | X | 152990929 | G | C | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.208G>C | p.V70L | non-syn | NA | - | - | lod=47:381 | TOLERATED | P | - | het | 1 |
6 | X | 152990929 | G | C | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.208G>C | p.V70L | non-syn | NA | - | - | lod=47:381 | TOLERATED | P | - | hom | 1 |
7 | X | 152991113 | G | T | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.392G>T | p.G131V | non-syn | NA | - | T=1/G=6709;T=0/G=3824;T=1/G=10533 | lod=52:391 | TOLERATED | B | - | het | 3 |
8 | X | 152991113 | G | T | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.392G>T | p.G131V | non-syn | NA | - | T=1/G=6709;T=0/G=3824;T=1/G=10533 | lod=52:391 | TOLERATED | B | - | hom | 1 |
9 | X | 152991192 | A | G | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.471A>G | p.Q157Q | syn | rs151148684 | - | G=0/A=6728;G=60/A=3773;G=60/A=10501 | lod=275:569 | - | - | - | hom | 2 |
10 | X | 152991356 | A | C | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.635A>C | p.Y212S | non-syn | NA | - | - | lod=263:565 | DAMAGING | D | - | het | 4 |
11 | X | 152991356 | A | C | ENST00000370129 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000359147 | ABCD1 | 1 | - | c.80A>C | p.Y27S | non-syn | NA | - | - | lod=263:565 | DAMAGING | D | - | het | 4 |
12 | X | 152991417 | G | A | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.696G>A | p.A232A | syn | NA | - | T=4/G=6723;T=45/G=3790;T=49/G=10513 | lod=34:346 | - | - | - | het | 1 |
13 | X | 152991417 | G | A | ENST00000370129 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000359147 | ABCD1 | 1 | - | c.141G>A | p.A47A | syn | NA | - | T=4/G=6723;T=45/G=3790;T=49/G=10513 | lod=34:346 | - | - | - | het | 1 |
14 | X | 152991417 | G | T | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.696G>T | p.A232A | syn | rs147595334 | - | T=4/G=6723;T=45/G=3790;T=49/G=10513 | lod=34:346 | - | - | - | het | 1 |
15 | X | 152991417 | G | T | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.696G>T | p.A232A | syn | rs147595334 | - | T=4/G=6723;T=45/G=3790;T=49/G=10513 | lod=34:346 | - | - | - | hom | 1 |
16 | X | 152991417 | G | T | ENST00000370129 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000359147 | ABCD1 | 1 | - | c.141G>T | p.A47A | syn | rs147595334 | - | T=4/G=6723;T=45/G=3790;T=49/G=10513 | lod=34:346 | - | - | - | het | 1 |
17 | X | 152991417 | G | T | ENST00000370129 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000359147 | ABCD1 | 1 | - | c.141G>T | p.A47A | syn | rs147595334 | - | T=4/G=6723;T=45/G=3790;T=49/G=10513 | lod=34:346 | - | - | - | hom | 1 |
18 | X | 152991428 | G | A | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.707G>A | p.R236H | non-syn | rs201455322 | - | A=8/G=6716;A=1/G=3832;A=9/G=10548 | lod=34:346 | DAMAGING | D | HGMD | het | 2 |
19 | X | 152991428 | G | A | ENST00000218104 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000218104 | ABCD1 | 1 | ABCD1_HUMAN | c.707G>A | p.R236H | non-syn | rs201455322 | - | A=8/G=6716;A=1/G=3832;A=9/G=10548 | lod=34:346 | DAMAGING | D | HGMD | hom | 1 |
20 | X | 152991428 | G | A | ENST00000370129 | ENSG00000101986 | 152990323 | 153010216 | ENSP00000359147 | ABCD1 | 1 | - | c.152G>A | p.R51H | non-syn | rs201455322 | - | A=8/G=6716;A=1/G=3832;A=9/G=10548 | lod=34:346 | DAMAGING | D | HGMD | het | 2 |