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 | 9 | 98637987 | T | C | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 9 | 98638020 | T | G | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | rs199917784 | - | - | - | - | - | - | het | 1 |
3 | 9 | 98638059 | G | C | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 3 |
4 | 9 | 98638059 | G | C | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | hom | 1 |
5 | 9 | 98638084 | C | G | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
6 | 9 | 98638134 | C | T | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | rs191249511 | 0.0012 | - | - | - | - | - | het | 2 |
7 | 9 | 98638242 | T | C | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | rs141071823 | 0.0282 | C=2/T=7854;C=127/T=3877;C=129/T=11731 | - | - | - | - | het | 1 |
8 | 9 | 98638242 | T | G | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | NA | - | C=2/T=7854;C=127/T=3877;C=129/T=11731 | - | - | - | - | het | 5 |
9 | 9 | 98638256 | C | T | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | rs75475951 | 0.0708 | T=3/C=8113;T=309/C=3829;T=312/C=11942 | - | - | - | - | het | 6 |
10 | 9 | 98638256 | C | T | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | - | - | 5'_UTR | rs75475951 | 0.0708 | T=3/C=8113;T=309/C=3829;T=312/C=11942 | - | - | - | - | hom | 1 |
11 | 9 | 98638288 | A | G | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.1A>G | p.M1V | non-syn | rs690528 | 0.3123 | G=2502/A=5908;G=561/A=3725;G=3063/A=9633 | - | TOLERATED | NA | - | het | 328 |
12 | 9 | 98638288 | A | G | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.1A>G | p.M1V | non-syn | rs690528 | 0.3123 | G=2502/A=5908;G=561/A=3725;G=3063/A=9633 | - | TOLERATED | NA | - | hom | 88 |
13 | 9 | 98638306 | C | T | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.19C>T | p.P7S | non-syn | rs56108623 | 0.1521 | T=721/C=7749;T=115/C=4199;T=836/C=11948 | - | TOLERATED | NA | - | hom | 12 |
14 | 9 | 98638306 | C | T | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.19C>T | p.P7S | non-syn | rs56108623 | 0.1521 | T=721/C=7749;T=115/C=4199;T=836/C=11948 | - | TOLERATED | NA | - | het | 118 |
15 | 9 | 98638328 | C | A | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.41C>A | p.P14Q | non-syn | rs151308487 | 0.0084 | A=73/C=8451;A=7/C=4327;A=80/C=12778 | - | TOLERATED | B | - | het | 8 |
16 | 9 | 98638339 | C | T | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.52C>T | p.Q18* | non-syn | NA | - | - | - | TOLERATED | NA | - | het | 1 |
17 | 9 | 98638341 | G | C | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.54G>C | p.Q18H | non-syn | rs139286981 | 0.011 | C=0/G=8510;C=51/G=4301;C=51/G=12811 | - | TOLERATED | B | - | het | 1 |
18 | 9 | 98638437 | T | C | ENST00000466840 | ENSG00000182150 | 98637983 | 98776842 | - | ERCC6L2 | 1 | - | c.13T>C | p.C5R | non-syn | rs117599634 | 0.00488 | - | - | - | - | - | het | 2 |
19 | 9 | 98638473 | T | C | ENST00000466840 | ENSG00000182150 | 98637983 | 98776842 | - | ERCC6L2 | 1 | - | c.49T>C | p.F17L | non-syn | rs116873203 | 0.00476 | - | - | - | - | - | het | 7 |
20 | 9 | 98643402 | C | -CAT | ENST00000288985 | ENSG00000182150 | 98637983 | 98776842 | ENSP00000288985 | ERCC6L2 | 1 | RAD26_HUMAN | c.332_334del | p.P111NA | non-syn | NA | - | - | lod=35:349 | - | - | - | het | 1 |