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 | 2 | 98340463 | C | T | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | - | - | -16bp 3'_splice_site | NA | - | - | - | - | - | - | het | 1 |
2 | 2 | 98340463 | C | T | ENST00000483781 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | - | - | -16bp 3'_splice_site | NA | - | - | - | - | - | - | het | 1 |
3 | 2 | 98340545 | T | C | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | c.46T>C | p.S16P | non-syn | NA | - | - | lod=1032:711 | DAMAGING | D | - | het | 3 |
4 | 2 | 98340545 | T | C | ENST00000483781 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.239T>C | p.L80P | non-syn | NA | - | - | lod=1032:711 | DAMAGING | D | - | het | 3 |
5 | 2 | 98340604 | G | A | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | c.105G>A | p.L35L | syn | rs56127120 | 0.0324 | A=5/G=8533;A=4/G=4364;A=9/G=12897 | lod=1032:711 | - | - | - | het | 2 |
6 | 2 | 98340604 | G | A | ENST00000483781 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.298G>A | p.A100T | non-syn | rs56127120 | 0.0324 | A=5/G=8533;A=4/G=4364;A=9/G=12897 | lod=1032:711 | - | - | - | het | 2 |
7 | 2 | 98340715 | C | T | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | c.216C>T | p.A72A | syn | rs199499629 | - | - | lod=27:321 | - | - | - | het | 1 |
8 | 2 | 98340715 | C | T | ENST00000483781 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.409C>T | p.R137W | non-syn | rs199499629 | - | - | lod=27:321 | - | - | - | het | 1 |
9 | 2 | 98340773 | G | A | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | c.274G>A | p.D92N | non-syn | NA | - | - | lod=144:500 | DAMAGING | P | - | het | 1 |
10 | 2 | 98340773 | G | A | ENST00000483781 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.467G>A | p.R156Q | non-syn | NA | - | - | lod=144:500 | DAMAGING | P | - | het | 1 |
11 | 2 | 98340931 | G | A | ENST00000463643 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.8G>A | p.W3* | non-syn | rs201910784 | - | A=0/G=6956;A=3/G=3507;A=3/G=10463 | - | - | - | - | het | 2 |
12 | 2 | 98341120 | A | G | ENST00000463643 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.197A>G | p.Y66C | non-syn | rs13006704 | 0.0072 | - | - | - | - | - | het | 9 |
13 | 2 | 98341120 | A | G | ENST00000463643 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.197A>G | p.Y66C | non-syn | rs13006704 | 0.0072 | - | - | - | - | - | hom | 1 |
14 | 2 | 98341314 | T | C | ENST00000463643 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | - | - | -4bp 3'_splice_site | NA | - | - | - | - | - | - | het | 2 |
15 | 2 | 98341616 | C | T | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | c.464C>T | p.T155M | non-syn | rs145955907 | - | T=6/C=8594;T=0/C=4406;T=6/C=13000 | lod=140:497 | DAMAGING | D | - | het | 2 |
16 | 2 | 98341616 | C | T | ENST00000442208 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000411141 | ZAP70 | 1 | ZAP70_HUMAN | c.86C>T | p.T29M | non-syn | rs145955907 | - | T=6/C=8594;T=0/C=4406;T=6/C=13000 | lod=140:497 | DAMAGING | D | - | het | 2 |
17 | 2 | 98341616 | C | T | ENST00000463643 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.325C>T | p.R109* | non-syn | rs145955907 | - | T=6/C=8594;T=0/C=4406;T=6/C=13000 | lod=140:497 | DAMAGING | D | - | het | 2 |
18 | 2 | 98341616 | C | T | ENST00000483781 | ENSG00000115085 | 98330023 | 98356325 | - | ZAP70 | 1 | - | c.657C>T | p.Y219Y | syn | rs145955907 | - | T=6/C=8594;T=0/C=4406;T=6/C=13000 | lod=140:497 | DAMAGING | D | - | het | 2 |
19 | 2 | 98341728 | C | G | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | - | - | +13bp 5'_splice_site | rs2289918 | 0.2846 | G=905/C=7695;G=1495/C=2911;G=2400/C=10606 | - | - | - | - | het | 151 |
20 | 2 | 98341728 | C | G | ENST00000264972 | ENSG00000115085 | 98330023 | 98356325 | ENSP00000264972 | ZAP70 | 1 | ZAP70_HUMAN | - | - | +13bp 5'_splice_site | rs2289918 | 0.2846 | G=905/C=7695;G=1495/C=2911;G=2400/C=10606 | - | - | - | - | hom | 18 |