Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11243 | chr15 | 52608707 | C | T |
c.2207G>A
|
p.Cys736Tyr
|
- | 3.0 |
|
B | |
| 34517 | chr15 | 55852524 | C | T |
c.1046G>A
|
p.Gly349Glu
|
- | 3.0 |
|
B | |
| 20083 | chr15 | 56444524 | CT | C |
c.605del
|
p.Lys202SerfsTer9
|
3.0 |
|
B | ||
| 15149 | chr15 | 57166402 | G | GA |
c.331dup
|
p.Thr111AsnfsTer22
|
- | 3.0 |
|
B | |
| 12011 | chr15 | 57166424 | AT | A |
c.352del
|
p.Ser118ProfsTer17
|
- | 3.0 |
|
B | |
| 34916 | chr15 | 57166470 | A | C |
c.390+4A>C
|
-
|
- | 3.0 |
|
B | |
| 35499 | chr15 | 57192189 | G | A |
c.422G>A
|
p.Gly141Glu
|
- | 3.0 |
|
B | |
| 24848 | chr15 | 57197785 | C | CA |
c.546dup
|
p.Val183SerfsTer21
|
3.0 |
|
B | ||
| 20399 | chr15 | 57197785 | CA | C |
c.546del
|
p.Val183SerfsTer62
|
3.0 |
|
B | ||
| 24993 | chr15 | 57231237 | C | G |
c.665C>G
|
p.Ala222Gly
|
- | 3.0 |
|
B | |
| 31923 | chr15 | 57232807 | C | A |
c.921C>A
|
p.Tyr307Ter
|
- | 3.0 |
|
B | |
| 18606 | chr15 | 57243475 | T | C |
c.1039T>C
|
p.Tyr347His
|
- | 3.0 |
|
B | |
| 9747 | chr15 | 57243506 | C | T |
c.1070C>T
|
p.Pro357Leu
|
3.0 |
|
B | ||
| 29955 | chr15 | 57251425 | T | A |
c.1188+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 32905 | chr15 | 57252407 | C | G |
c.1189-14C>G
|
-
|
- | 3.0 |
|
B | |
| 17505 | chr15 | 57252481 | G | T |
c.1249G>T
|
p.Asp417Tyr
|
- | 3.0 |
|
B | |
| 20132 | chr15 | 57253240 | GTT | G |
c.1261-13_1261-12del
|
-
|
3.0 |
|
B | ||
| 7983 | chr15 | 57253275 | AG | A |
c.1276del
|
p.Asp426IlefsTer3
|
- | 3.0 |
|
B | |
| 27671 | chr15 | 57253350 | C | T |
c.1349C>T
|
p.Pro450Leu
|
- | 3.0 |
|
B | |
| 13496 | chr15 | 57253385 | C | A |
c.1384C>A
|
p.Pro462Thr
|
- | 3.0 |
|
B |