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 | 12 | 123717689 | A | -GC | ENST00000253233 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000253233 | C12orf65 | 1 | CL065_HUMAN | - | - | 5'_UTR | rs146239222 | - | - | lod=47:381 | - | - | - | het | 1 |
2 | 12 | 123718301 | C | T | ENST00000536130 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000443072 | C12orf65 | 1 | - | - | - | 5'_UTR | rs1727332 | 0.7212 | - | - | - | - | - | het | 1 |
3 | 12 | 123718301 | C | T | ENST00000536130 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000443072 | C12orf65 | 1 | - | - | - | 5'_UTR | rs1727332 | 0.7212 | - | - | - | - | - | hom | 1 |
4 | 12 | 123718301 | C | T | ENST00000546132 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000441796 | C12orf65 | 1 | - | - | - | 5'_UTR | rs1727332 | 0.7212 | - | - | - | - | - | het | 1 |
5 | 12 | 123718301 | C | T | ENST00000546132 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000441796 | C12orf65 | 1 | - | - | - | 5'_UTR | rs1727332 | 0.7212 | - | - | - | - | - | hom | 1 |
6 | 12 | 123738009 | G | A | ENST00000429587 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000391513 | C12orf65 | 1 | CL065_HUMAN | - | - | 5'_UTR | rs144961610 | - | - | - | - | - | - | hom | 1 |
7 | 12 | 123738009 | G | A | ENST00000429587 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000391513 | C12orf65 | 1 | CL065_HUMAN | - | - | 5'_UTR | rs144961610 | - | - | - | - | - | - | het | 6 |
8 | 12 | 123738078 | C | T | ENST00000429587 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000391513 | C12orf65 | 1 | CL065_HUMAN | - | - | 5'_UTR | rs151216628 | 0.0181 | - | - | - | - | - | het | 2 |
9 | 12 | 123738078 | C | T | ENST00000429587 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000391513 | C12orf65 | 1 | CL065_HUMAN | - | - | 5'_UTR | rs151216628 | 0.0181 | - | - | - | - | - | hom | 1 |
10 | 12 | 123738265 | G | A | ENST00000253233 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000253233 | C12orf65 | 1 | CL065_HUMAN | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | het | 34 |
11 | 12 | 123738265 | G | A | ENST00000253233 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000253233 | C12orf65 | 1 | CL065_HUMAN | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | hom | 2 |
12 | 12 | 123738265 | G | A | ENST00000366329 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000390647 | C12orf65 | 1 | CL065_HUMAN | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | het | 34 |
13 | 12 | 123738265 | G | A | ENST00000366329 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000390647 | C12orf65 | 1 | CL065_HUMAN | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | hom | 2 |
14 | 12 | 123738265 | G | A | ENST00000425637 | ENSG00000130921 | 123717463 | 123742506 | - | C12orf65 | 1 | - | c.167G>A | p.R56Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | het | 34 |
15 | 12 | 123738265 | G | A | ENST00000425637 | ENSG00000130921 | 123717463 | 123742506 | - | C12orf65 | 1 | - | c.167G>A | p.R56Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | hom | 2 |
16 | 12 | 123738265 | G | A | ENST00000429587 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000391513 | C12orf65 | 1 | CL065_HUMAN | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | het | 34 |
17 | 12 | 123738265 | G | A | ENST00000429587 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000391513 | C12orf65 | 1 | CL065_HUMAN | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | hom | 2 |
18 | 12 | 123738265 | G | A | ENST00000536130 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000443072 | C12orf65 | 1 | - | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | het | 34 |
19 | 12 | 123738265 | G | A | ENST00000536130 | ENSG00000130921 | 123717463 | 123742506 | ENSP00000443072 | C12orf65 | 1 | - | c.44G>A | p.R15Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | hom | 2 |
20 | 12 | 123738265 | G | A | ENST00000538888 | ENSG00000130921 | 123717463 | 123742506 | - | C12orf65 | 1 | - | c.167G>A | p.R56Q | non-syn | rs78651634 | 0.01412 | A=231/G=8369;A=19/G=4387;A=250/G=12756 | - | DAMAGING | P | - | het | 34 |