Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31437 | chr18 | 63659440 | C | T |
c.310G>A
|
p.Ala104Thr
|
3.0 |
|
B | ||
| 35291 | chr18 | 63659488 | G | T |
c.262C>A
|
p.Leu88Ile
|
- | 3.0 |
|
B | |
| 20253 | chr18 | 63660819 | C | T |
c.203G>A
|
p.Gly68Glu
|
3.0 |
|
B | ||
| 18338 | chr18 | 63661128 | G | A |
c.89C>T
|
p.Ser30Phe
|
3.0 |
|
B | ||
| 2918 | chr18 | 63661214 | C | T |
c.3G>A
|
p.Met1?
|
3.0 |
|
B | ||
| 25134 | chr18 | 63661215 | A | G |
c.2T>C
|
p.Met1?
|
3.0 |
|
B | ||
| 5747 | chr18 | 72749036 | T | A |
c.1594A>T
|
p.Arg532Trp
|
- | 3.0 |
|
B | |
| 4125 | chr18 | 74631738 | C | T |
c.719C>T
|
p.Pro240Leu
|
- | 3.0 |
|
B | |
| 4285 | chr18 | 78993279 | G | A |
c.1288G>A
|
p.Gly430Ser
|
3.0 |
|
B | ||
| 24211 | chr18 | 79396337 | A | G |
c.113A>G
|
p.Lys38Arg
|
- | 3.0 |
|
B | |
| 17682 | chr18 | 79400395 | A | T |
c.127+4044A>T
|
-
|
- | 3.0 |
|
B | |
| 18905 | chr18 | 79400466 | CGCG | C |
c.127+4118_127+4120del
|
-
|
- | 3.0 |
|
B | |
| 22953 | chr18 | 79400491 | C | T |
c.127+4140C>T
|
-
|
- | 3.0 |
|
B | |
| 22472 | chr18 | 79410609 | G | C |
c.334G>C
|
p.Ala112Pro
|
3.0 |
|
B | ||
| 34163 | chr18 | 79410867 | G | A |
c.592G>A
|
p.Ala198Thr
|
3.0 |
|
B | ||
| 14663 | chr18 | 79411059 | C | T |
c.784C>T
|
p.Pro262Ser
|
- | 3.0 |
|
B | |
| 17724 | chr18 | 79411126 | C | T |
c.851C>T
|
p.Thr284Met
|
3.0 |
|
B | ||
| 17694 | chr18 | 79411149 | C | T |
c.874C>T
|
p.Arg292Trp
|
3.0 |
|
B | ||
| 31934 | chr18 | 79433703 | G | C |
c.1351G>C
|
p.Val451Leu
|
- | 3.0 |
|
B | |
| 26526 | chr18 | 79451716 | G | A |
c.1803G>A
|
p.Gln601=
|
- | 3.0 |
|
B |