Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34297 | chr15 | 90893207 | C | T |
c.1921+13C>T
|
-
|
3.0 |
|
B | ||
| 24725 | chr15 | 90893793 | C | T |
c.2185C>T
|
p.Pro729Ser
|
- | 3.0 |
|
B | |
| 30404 | chr15 | 90893810 | C | T |
c.2202C>T
|
p.Tyr734=
|
3.0 |
|
B | ||
| 9495 | chr15 | 90893959 | G | A |
c.2227G>A
|
p.Val743Met
|
3.0 |
|
B | ||
| 11108 | chr15 | 90894059 | G | T |
c.2326+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 11109 | chr15 | 90894061 | A | T |
c.2326+3A>T
|
-
|
- | 3.0 |
|
B | |
| 12336 | chr15 | 92902183 | GAATGCTTTATCTTCTGA | G |
c.62+886_62+902del
|
-
|
- | 4.0 |
|
B | |
| 2738 | chr15 | 92924430 | G | C |
c.172G>C
|
p.Glu58Gln
|
- | 3.0 |
|
B | |
| 13548 | chr15 | 92924434 | C | G |
c.176C>G
|
p.Ser59Cys
|
- | 3.0 |
|
B | |
| 16814 | chr15 | 92924502 | G | A |
c.244G>A
|
p.Ala82Thr
|
- | 3.0 |
|
B | |
| 10381 | chr15 | 92927289 | C | T |
c.340C>T
|
p.Arg114Ter
|
4.0 |
|
B | ||
| 23082 | chr15 | 92929052 | G | A |
c.404G>A
|
p.Gly135Glu
|
- | 3.0 |
|
B | |
| 24236 | chr15 | 92937588 | CA | C |
c.522del
|
p.Val175Ter
|
4.5 |
|
B | ||
| 7399 | chr15 | 92939580 | C | A |
c.554C>A
|
p.Thr185Lys
|
- | 3.5 |
|
B | |
| 13824 | chr15 | 92939705 | G | T |
c.679G>T
|
p.Ala227Ser
|
- | 3.0 |
|
B | |
| 33704 | chr15 | 92939714 | G | A |
c.688G>A
|
p.Val230Ile
|
3.0 |
|
B | ||
| 23922 | chr15 | 92941974 | C | T |
c.826+19C>T
|
-
|
3.0 |
|
B | ||
| 22776 | chr15 | 92943055 | G | A |
c.1039G>A
|
p.Glu347Lys
|
3.0 |
|
B | ||
| 11840 | chr15 | 92943079 | C | T |
c.1052+11C>T
|
-
|
2.0 |
|
B | ||
| 16815 | chr15 | 92944476 | G | A |
c.1114G>A
|
p.Glu372Lys
|
- | 3.0 |
|
B |