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 | 49158670 | T | G | ENST00000305544 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000307156 | LAMB2 | -1 | LAMB2_HUMAN | c.5386A>C | p.T1796P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | het | 26 |
2 | 3 | 49158670 | T | G | ENST00000305544 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000307156 | LAMB2 | -1 | LAMB2_HUMAN | c.5386A>C | p.T1796P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | hom | 1 |
3 | 3 | 49158670 | T | G | ENST00000418109 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000388325 | LAMB2 | -1 | LAMB2_HUMAN | c.5386A>C | p.T1796P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | het | 26 |
4 | 3 | 49158670 | T | G | ENST00000418109 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000388325 | LAMB2 | -1 | LAMB2_HUMAN | c.5386A>C | p.T1796P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | hom | 1 |
5 | 3 | 49158670 | T | G | ENST00000467506 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.566A>C | p.H189P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | het | 26 |
6 | 3 | 49158670 | T | G | ENST00000467506 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.566A>C | p.H189P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | hom | 1 |
7 | 3 | 49158670 | T | G | ENST00000484713 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.290A>C | p.H97P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | het | 26 |
8 | 3 | 49158670 | T | G | ENST00000484713 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.290A>C | p.H97P | non-syn | rs200838685 | - | - | lod=327:588 | DAMAGING | D | - | hom | 1 |
9 | 3 | 49158677 | G | C | ENST00000305544 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000307156 | LAMB2 | -1 | LAMB2_HUMAN | c.5379C>G | p.I1793M | non-syn | rs11550620 | - | C=2/G=8598;C=0/G=4406;C=2/G=13004 | lod=327:588 | DAMAGING | P | - | het | 1 |
10 | 3 | 49158677 | G | C | ENST00000418109 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000388325 | LAMB2 | -1 | LAMB2_HUMAN | c.5379C>G | p.I1793M | non-syn | rs11550620 | - | C=2/G=8598;C=0/G=4406;C=2/G=13004 | lod=327:588 | DAMAGING | P | - | het | 1 |
11 | 3 | 49158677 | G | C | ENST00000467506 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.559C>G | p.L187V | non-syn | rs11550620 | - | C=2/G=8598;C=0/G=4406;C=2/G=13004 | lod=327:588 | DAMAGING | P | - | het | 1 |
12 | 3 | 49158677 | G | C | ENST00000484713 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.283C>G | p.L95V | non-syn | rs11550620 | - | C=2/G=8598;C=0/G=4406;C=2/G=13004 | lod=327:588 | DAMAGING | P | - | het | 1 |
13 | 3 | 49158763 | C | T | ENST00000305544 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000307156 | LAMB2 | -1 | LAMB2_HUMAN | c.5293G>A | p.A1765T | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | het | 56 |
14 | 3 | 49158763 | C | T | ENST00000305544 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000307156 | LAMB2 | -1 | LAMB2_HUMAN | c.5293G>A | p.A1765T | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | hom | 1 |
15 | 3 | 49158763 | C | T | ENST00000418109 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000388325 | LAMB2 | -1 | LAMB2_HUMAN | c.5293G>A | p.A1765T | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | het | 56 |
16 | 3 | 49158763 | C | T | ENST00000418109 | ENSG00000172037 | 49158547 | 49170551 | ENSP00000388325 | LAMB2 | -1 | LAMB2_HUMAN | c.5293G>A | p.A1765T | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | hom | 1 |
17 | 3 | 49158763 | C | T | ENST00000467506 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.473G>A | p.G158D | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | het | 56 |
18 | 3 | 49158763 | C | T | ENST00000467506 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.473G>A | p.G158D | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | hom | 1 |
19 | 3 | 49158763 | C | T | ENST00000484713 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.197G>A | p.G66D | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | het | 56 |
20 | 3 | 49158763 | C | T | ENST00000484713 | ENSG00000172037 | 49158547 | 49170551 | - | LAMB2 | -1 | - | c.197G>A | p.G66D | non-syn | rs74951356 | 0.037 | T=255/C=8345;T=21/C=4385;T=276/C=12730 | - | TOLERATED | B | - | hom | 1 |