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 | 1 | 120293430 | C | T | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.1522G>A | p.V508I | non-syn | rs76773981 | 0.00187 | T=34/C=8566;T=2/C=4404;T=36/C=12970 | - | TOLERATED | B | - | het | 8 |
2 | 1 | 120293430 | C | T | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | c.1396G>A | p.V466I | non-syn | rs76773981 | 0.00187 | T=34/C=8566;T=2/C=4404;T=36/C=12970 | - | TOLERATED | B | - | het | 8 |
3 | 1 | 120295173 | C | T | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.1419G>A | p.K473K | syn | rs142776952 | - | T=37/C=8563;T=0/C=4406;T=37/C=12969 | - | - | - | - | hom | 1 |
4 | 1 | 120295173 | C | T | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.1419G>A | p.K473K | syn | rs142776952 | - | T=37/C=8563;T=0/C=4406;T=37/C=12969 | - | - | - | - | het | 11 |
5 | 1 | 120295173 | C | T | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | c.1293G>A | p.K431K | syn | rs142776952 | - | T=37/C=8563;T=0/C=4406;T=37/C=12969 | - | - | - | - | hom | 1 |
6 | 1 | 120295173 | C | T | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | c.1293G>A | p.K431K | syn | rs142776952 | - | T=37/C=8563;T=0/C=4406;T=37/C=12969 | - | - | - | - | het | 11 |
7 | 1 | 120295187 | G | C | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.1405C>G | p.Q469E | non-syn | NA | - | - | lod=117:478 | TOLERATED | B | - | het | 3 |
8 | 1 | 120295187 | G | C | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | c.1279C>G | p.Q427E | non-syn | NA | - | - | lod=117:478 | TOLERATED | B | - | het | 3 |
9 | 1 | 120295908 | G | A | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.1289C>T | p.A430V | non-syn | rs141769037 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | lod=404:611 | DAMAGING | B | - | het | 4 |
10 | 1 | 120295908 | G | A | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | c.1163C>T | p.A388V | non-syn | rs141769037 | - | A=2/G=8598;A=0/G=4406;A=2/G=13004 | lod=404:611 | DAMAGING | B | - | het | 4 |
11 | 1 | 120295933 | A | T | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.1264T>A | p.S422T | non-syn | NA | - | - | lod=404:611 | DAMAGING | P | - | het | 1 |
12 | 1 | 120295933 | A | T | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | c.1138T>A | p.S380T | non-syn | NA | - | - | lod=404:611 | DAMAGING | P | - | het | 1 |
13 | 1 | 120296024 | A | -TC | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | - | - | -15bp 3'_splice_site | NA | - | - | - | - | - | - | het | 1 |
14 | 1 | 120296024 | A | -TC | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | - | - | -15bp 3'_splice_site | NA | - | - | - | - | - | - | het | 1 |
15 | 1 | 120298142 | G | C | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.1095C>G | p.D365E | non-syn | NA | - | - | lod=112:473 | TOLERATED | B | - | het | 1 |
16 | 1 | 120298142 | G | C | ENST00000472375 | ENSG00000134240 | 120290619 | 120311528 | - | HMGCS2 | -1 | - | c.542C>G | p.T181R | non-syn | NA | - | - | lod=112:473 | TOLERATED | B | - | het | 1 |
17 | 1 | 120298142 | G | C | ENST00000476640 | ENSG00000134240 | 120290619 | 120311528 | - | HMGCS2 | -1 | - | c.826C>G | p.Q276E | non-syn | NA | - | - | lod=112:473 | TOLERATED | B | - | het | 1 |
18 | 1 | 120298142 | G | C | ENST00000544913 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000439495 | HMGCS2 | -1 | HMCS2_HUMAN | c.969C>G | p.D323E | non-syn | NA | - | - | lod=112:473 | TOLERATED | B | - | het | 1 |
19 | 1 | 120300054 | G | A | ENST00000369406 | ENSG00000134240 | 120290619 | 120311528 | ENSP00000358414 | HMGCS2 | -1 | HMCS2_HUMAN | c.858C>T | p.S286S | syn | rs1992376 | 0.00653 | A=72/G=8528;A=13/G=4393;A=85/G=12921 | - | - | - | - | het | 8 |
20 | 1 | 120300054 | G | A | ENST00000472375 | ENSG00000134240 | 120290619 | 120311528 | - | HMGCS2 | -1 | - | c.305C>T | p.A102V | non-syn | rs1992376 | 0.00653 | A=72/G=8528;A=13/G=4393;A=85/G=12921 | - | - | - | - | het | 8 |