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 | 19 | 36546015 | C | T | ENST00000270301 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000270301 | WDR62 | 1 | WDR62_HUMAN | c.142C>T | p.L48F | non-syn | rs62109744 | - | T=83/C=7889;T=13/C=3973;T=96/C=11862 | lod=66:417 | TOLERATED | B | - | het | 10 |
2 | 19 | 36546015 | C | T | ENST00000378860 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000368137 | WDR62 | 1 | WDR62_HUMAN | c.142C>T | p.L48F | non-syn | rs62109744 | - | T=83/C=7889;T=13/C=3973;T=96/C=11862 | lod=66:417 | TOLERATED | B | - | het | 10 |
3 | 19 | 36546015 | C | T | ENST00000388999 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000373651 | WDR62 | 1 | WDR62_HUMAN | c.142C>T | p.L48F | non-syn | rs62109744 | - | T=83/C=7889;T=13/C=3973;T=96/C=11862 | lod=66:417 | TOLERATED | B | - | het | 10 |
4 | 19 | 36546015 | C | T | ENST00000401500 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000384792 | WDR62 | 1 | WDR62_HUMAN | c.142C>T | p.L48F | non-syn | rs62109744 | - | T=83/C=7889;T=13/C=3973;T=96/C=11862 | lod=66:417 | TOLERATED | B | - | het | 10 |
5 | 19 | 36546015 | C | T | ENST00000427823 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000413475 | WDR62 | 1 | - | c.124C>T | p.L42F | non-syn | rs62109744 | - | T=83/C=7889;T=13/C=3973;T=96/C=11862 | lod=66:417 | TOLERATED | B | - | het | 10 |
6 | 19 | 36546015 | C | T | ENST00000587391 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000465525 | WDR62 | 1 | WDR62_HUMAN | c.142C>T | p.L48F | non-syn | rs62109744 | - | T=83/C=7889;T=13/C=3973;T=96/C=11862 | lod=66:417 | TOLERATED | B | - | het | 10 |
7 | 19 | 36546015 | C | T | ENST00000588157 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000467306 | WDR62 | 1 | - | c.142C>T | p.L48F | non-syn | rs62109744 | - | T=83/C=7889;T=13/C=3973;T=96/C=11862 | lod=66:417 | TOLERATED | B | - | het | 10 |
8 | 19 | 36549684 | G | A | ENST00000270301 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000270301 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | het | 100 |
9 | 19 | 36549684 | G | A | ENST00000270301 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000270301 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | hom | 6 |
10 | 19 | 36549684 | G | A | ENST00000378860 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000368137 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | het | 100 |
11 | 19 | 36549684 | G | A | ENST00000378860 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000368137 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | hom | 6 |
12 | 19 | 36549684 | G | A | ENST00000388999 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000373651 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | het | 100 |
13 | 19 | 36549684 | G | A | ENST00000388999 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000373651 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | hom | 6 |
14 | 19 | 36549684 | G | A | ENST00000401500 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000384792 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | het | 100 |
15 | 19 | 36549684 | G | A | ENST00000401500 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000384792 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | hom | 6 |
16 | 19 | 36549684 | G | A | ENST00000427823 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000413475 | WDR62 | 1 | - | c.162G>A | p.V54V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | het | 100 |
17 | 19 | 36549684 | G | A | ENST00000427823 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000413475 | WDR62 | 1 | - | c.162G>A | p.V54V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | hom | 6 |
18 | 19 | 36549684 | G | A | ENST00000587391 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000465525 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | het | 100 |
19 | 19 | 36549684 | G | A | ENST00000587391 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000465525 | WDR62 | 1 | WDR62_HUMAN | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | hom | 6 |
20 | 19 | 36549684 | G | A | ENST00000588157 | ENSG00000075702 | 36545783 | 36596008 | ENSP00000467306 | WDR62 | 1 | - | c.180G>A | p.V60V | syn | rs61742664 | 0.1644 | A=346/G=8254;A=124/G=4282;A=470/G=12536 | - | - | - | - | het | 100 |