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 | 171604639 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | - | - | 3'_UTR | rs142425726 | 0.00454 | - | - | - | - | - | het | 11 |
2 | 1 | 171604777 | C | T | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 3 |
3 | 1 | 171605246 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.1334C>T | p.A445V | non-syn | rs140967767 | - | A=3/G=8597;A=1/G=4405;A=4/G=13002 | - | TOLERATED | B | HGMD | het | 2 |
4 | 1 | 171605387 | T | C | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.1193A>G | p.K398R | non-syn | rs56314834 | 0.00469 | C=48/T=8552;C=5/T=4401;C=53/T=12953 | lod=39:361 | TOLERATED | B | Glaucoma 1, open angle ? | het | 17 |
5 | 1 | 171605478 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.1102C>T | p.Q368* | non-syn | rs74315329 | - | A=12/G=8588;A=0/G=4406;A=12/G=12994 | lod=121:482 | TOLERATED | NA | HGMD | het | 1 |
6 | 1 | 171605526 | C | T | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.1054G>A | p.E352K | non-syn | rs61745146 | 0.0114 | T=2/C=8598;T=55/C=4351;T=57/C=12949 | lod=20:289 | DAMAGING | D | HGMD | het | 2 |
7 | 1 | 171605527 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.1053C>T | p.T351T | syn | rs202003673 | - | A=1/G=8599;A=0/G=4406;A=1/G=13005 | - | - | - | - | het | 3 |
8 | 1 | 171605539 | A | G | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.1041T>C | p.Y347Y | syn | rs61730974 | 0.01862 | G=263/A=8337;G=21/A=4385;G=284/A=12722 | lod=42:369 | - | - | HGMD | het | 72 |
9 | 1 | 171605605 | C | T | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.975G>A | p.T325T | syn | rs61730976 | 0.057 | T=3/C=8597;T=337/C=4069;T=340/C=12666 | lod=51:389 | - | - | HGMD | het | 9 |
10 | 1 | 171605702 | G | T | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.878C>A | p.T293K | non-syn | rs139122673 | - | T=4/G=8596;T=3/G=4403;T=7/G=12999 | - | TOLERATED | B | HGMD | het | 1 |
11 | 1 | 171605725 | C | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.855G>T | p.T285T | syn | rs146606638 | 0.00382 | A=25/C=8575;A=4/C=4402;A=29/C=12977 | lod=38:358 | - | - | - | het | 3 |
12 | 1 | 171607833 | A | C | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.634T>G | p.F212V | non-syn | rs148167336 | - | C=2/A=8598;C=0/A=4406;C=2/A=13004 | lod=112:473 | DAMAGING | D | - | het | 1 |
13 | 1 | 171607855 | C | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.612G>T | p.T204T | syn | rs57824969 | 0.0043 | A=1/C=8599;A=44/C=4362;A=45/C=12961 | - | - | - | - | het | 1 |
14 | 1 | 171621163 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.589C>T | p.P197S | non-syn | NA | - | - | - | TOLERATED | B | - | hom | 1 |
15 | 1 | 171621275 | T | C | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.477A>G | p.L159L | syn | rs61730977 | 0.0417 | C=3/T=8597;C=296/T=4110;C=299/T=12707 | - | - | - | - | het | 5 |
16 | 1 | 171621375 | C | T | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.377G>A | p.R126Q | non-syn | rs144709484 | - | T=0/C=8600;T=1/C=4405;T=1/C=13005 | - | TOLERATED | P | - | het | 1 |
17 | 1 | 171621386 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.366C>T | p.G122G | syn | rs145354114 | 0.0051 | A=24/G=8576;A=3/G=4403;A=27/G=12979 | - | - | - | - | het | 7 |
18 | 1 | 171621480 | C | T | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.272G>A | p.R91Q | non-syn | NA | - | - | lod=43:371 | DAMAGING | D | - | het | 3 |
19 | 1 | 171621508 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.244C>T | p.R82C | non-syn | NA | - | - | lod=12:235 | DAMAGING | D | HGMD | het | 2 |
20 | 1 | 171621518 | G | A | ENST00000037502 | ENSG00000034971 | 171604557 | 171621823 | ENSP00000037502 | MYOC | -1 | MYOC_HUMAN | c.234C>T | p.S78S | syn | NA | - | - | lod=70:423 | - | - | - | het | 1 |