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 | 4 | 39460672 | C | A | ENST00000261434 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000261434 | LIAS | 1 | LIAS_HUMAN | - | - | 5'_UTR | rs192607174 | 0.00198 | A=7/C=3175;A=1/C=1383;A=8/C=4558 | - | - | - | - | het | 4 |
2 | 4 | 39460672 | C | A | ENST00000340169 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000340676 | LIAS | 1 | - | - | - | 5'_UTR | rs192607174 | 0.00198 | A=7/C=3175;A=1/C=1383;A=8/C=4558 | - | - | - | - | het | 4 |
3 | 4 | 39460672 | C | A | ENST00000509519 | ENSG00000121897 | 39460620 | 39479273 | - | LIAS | 1 | - | c.8C>A | p.S3* | non-syn | rs192607174 | 0.00198 | A=7/C=3175;A=1/C=1383;A=8/C=4558 | - | - | - | - | het | 4 |
4 | 4 | 39460709 | C | T | ENST00000261434 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000261434 | LIAS | 1 | LIAS_HUMAN | - | - | 5'_UTR | NA | - | T=0/C=8600;T=5/C=4401;T=5/C=13001 | - | - | - | - | het | 1 |
5 | 4 | 39460709 | C | T | ENST00000340169 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000340676 | LIAS | 1 | - | - | - | 5'_UTR | NA | - | T=0/C=8600;T=5/C=4401;T=5/C=13001 | - | - | - | - | het | 1 |
6 | 4 | 39460709 | C | T | ENST00000381846 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000371270 | LIAS | 1 | - | - | - | 5'_UTR | NA | - | T=0/C=8600;T=5/C=4401;T=5/C=13001 | - | - | - | - | het | 1 |
7 | 4 | 39460709 | C | T | ENST00000424936 | ENSG00000121897 | 39460620 | 39479273 | - | LIAS | 1 | - | c.32C>T | p.P11L | non-syn | NA | - | T=0/C=8600;T=5/C=4401;T=5/C=13001 | - | - | - | - | het | 1 |
8 | 4 | 39460709 | C | T | ENST00000509519 | ENSG00000121897 | 39460620 | 39479273 | - | LIAS | 1 | - | c.45C>T | p.T15T | syn | NA | - | T=0/C=8600;T=5/C=4401;T=5/C=13001 | - | - | - | - | het | 1 |
9 | 4 | 39460709 | C | T | ENST00000513731 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000425580 | LIAS | 1 | - | - | - | 5'_UTR | NA | - | T=0/C=8600;T=5/C=4401;T=5/C=13001 | - | - | - | - | het | 1 |
10 | 4 | 39460737 | A | G | ENST00000261434 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000261434 | LIAS | 1 | LIAS_HUMAN | - | - | 5'_UTR | rs139360916 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=43:371 | - | - | - | het | 4 |
11 | 4 | 39460737 | A | G | ENST00000340169 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000340676 | LIAS | 1 | - | - | - | 5'_UTR | rs139360916 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=43:371 | - | - | - | het | 4 |
12 | 4 | 39460737 | A | G | ENST00000381846 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000371270 | LIAS | 1 | - | - | - | 5'_UTR | rs139360916 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=43:371 | - | - | - | het | 4 |
13 | 4 | 39460737 | A | G | ENST00000424936 | ENSG00000121897 | 39460620 | 39479273 | - | LIAS | 1 | - | c.60A>G | p.E20E | syn | rs139360916 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=43:371 | - | - | - | het | 4 |
14 | 4 | 39460737 | A | G | ENST00000509519 | ENSG00000121897 | 39460620 | 39479273 | - | LIAS | 1 | - | c.73A>G | p.N25D | non-syn | rs139360916 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=43:371 | - | - | - | het | 4 |
15 | 4 | 39460737 | A | G | ENST00000513731 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000425580 | LIAS | 1 | - | - | - | 5'_UTR | rs139360916 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=43:371 | - | - | - | het | 4 |
16 | 4 | 39460738 | A | G | ENST00000261434 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000261434 | LIAS | 1 | LIAS_HUMAN | c.1A>G | p.M1V | non-syn | NA | - | - | lod=43:371 | DAMAGING | P | - | het | 1 |
17 | 4 | 39460738 | A | G | ENST00000340169 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000340676 | LIAS | 1 | - | c.1A>G | p.M1V | non-syn | NA | - | - | lod=43:371 | DAMAGING | P | - | het | 1 |
18 | 4 | 39460738 | A | G | ENST00000381846 | ENSG00000121897 | 39460620 | 39479273 | ENSP00000371270 | LIAS | 1 | - | c.1A>G | p.M1V | non-syn | NA | - | - | lod=43:371 | DAMAGING | P | - | het | 1 |
19 | 4 | 39460738 | A | G | ENST00000424936 | ENSG00000121897 | 39460620 | 39479273 | - | LIAS | 1 | - | c.61A>G | p.M21V | non-syn | NA | - | - | lod=43:371 | DAMAGING | P | - | het | 1 |
20 | 4 | 39460738 | A | G | ENST00000509519 | ENSG00000121897 | 39460620 | 39479273 | - | LIAS | 1 | - | c.74A>G | p.N25S | non-syn | NA | - | - | lod=43:371 | DAMAGING | P | - | het | 1 |