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 | 7 | 128412618 | C | A | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.1023G>T | p.S341S | syn | rs140568559 | - | A=15/C=8585;A=0/C=4406;A=15/C=12991 | lod=70:423 | - | - | - | het | 3 |
2 | 7 | 128412698 | T | C | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.943A>G | p.M315V | non-syn | NA | - | - | lod=153:507 | TOLERATED | P | - | het | 3 |
3 | 7 | 128413777 | C | A | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.853G>T | p.V285F | non-syn | rs79158266 | - | - | lod=174:521 | DAMAGING | D | - | het | 13 |
4 | 7 | 128413913 | C | T | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.717G>A | p.T239T | syn | NA | - | T=0/C=8600;T=2/C=4404;T=2/C=13004 | - | - | - | - | hom | 1 |
5 | 7 | 128414563 | C | T | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.676G>A | p.A226T | non-syn | NA | - | - | lod=60:407 | TOLERATED | B | - | het | 1 |
6 | 7 | 128414573 | C | T | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.666G>A | p.Q222Q | syn | rs201738858 | - | T=0/C=8600;T=2/C=4404;T=2/C=13004 | lod=47:381 | - | - | - | het | 1 |
7 | 7 | 128415040 | C | T | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.521G>A | p.R174Q | non-syn | rs141288412 | - | T=2/C=8598;T=0/C=4406;T=2/C=13004 | lod=167:516 | DAMAGING | D | - | het | 2 |
8 | 7 | 128415071 | C | T | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.490G>A | p.V164I | non-syn | rs143817931 | 0.0151 | T=16/C=8584;T=25/C=4381;T=41/C=12965 | - | DAMAGING | D | - | het | 8 |
9 | 7 | 128415195 | T | G | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.366A>C | p.G122G | syn | rs1799922 | 0.33177 | G=3471/T=5129;G=651/T=3755;G=4122/T=8884 | lod=207:539 | - | - | - | het | 408 |
10 | 7 | 128415195 | T | G | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.366A>C | p.G122G | syn | rs1799922 | 0.33177 | G=3471/T=5129;G=651/T=3755;G=4122/T=8884 | lod=207:539 | - | - | - | hom | 115 |
11 | 7 | 128415623 | G | T | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.222C>A | p.V74V | syn | rs35893393 | 0.01737 | T=151/G=8449;T=22/G=4384;T=173/G=12833 | lod=107:469 | - | - | - | het | 14 |
12 | 7 | 128415623 | G | T | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.222C>A | p.V74V | syn | rs35893393 | 0.01737 | T=151/G=8449;T=22/G=4384;T=173/G=12833 | lod=107:469 | - | - | - | hom | 1 |
13 | 7 | 128415814 | G | A | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.31C>T | p.L11L | syn | rs55974922 | 0.00646 | A=97/G=8503;A=9/G=4397;A=106/G=12900 | lod=81:439 | - | - | - | het | 21 |
14 | 7 | 128415831 | G | A | ENST00000249389 | ENSG00000128617 | 128412545 | 128415844 | ENSP00000249389 | OPN1SW | -1 | OPSB_HUMAN | c.14C>T | p.S5L | non-syn | rs185373190 | 0.0028 | A=2/G=8598;A=1/G=4405;A=3/G=13003 | lod=25:313 | TOLERATED | B | - | het | 4 |