Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32892 | chr3 | 48568488 | G | A |
c.7794+11C>T
-
|
-
-
|
3.0 |
|
B | ||
| 1268 | chr3 | 48568500 | G | A |
c.7793C>T
-
|
p.Pro2598Leu
-
|
2.5 |
|
B | ||
| 29550 | chr3 | 48568819 | C | T |
c.7723G>A
|
p.Gly2575Arg
|
3.0 |
|
B | ||
| 28309 | chr3 | 48569580 | G | T |
c.7614+12C>A
|
-
|
- | 3.0 |
|
B | |
| 28310 | chr3 | 48569581 | G | A |
c.7614+11C>T
|
-
|
- | 3.0 |
|
B | |
| 7465 | chr3 | 48569612 | G | A |
c.7594C>T
|
p.Arg2532Trp
|
3.0 |
|
B | ||
| 8013 | chr3 | 48569629 | A | G |
c.7577T>C
|
p.Leu2526Pro
|
- | 3.0 |
|
B | |
| 32796 | chr3 | 48569644 | T | C |
c.7562A>G
|
p.Asp2521Gly
|
- | 3.0 |
|
B | |
| 2111 | chr3 | 48569906 | C | A |
c.7495G>T
|
p.Gly2499Cys
|
- | 3.0 |
|
B | |
| 11528 | chr3 | 48569913 | C | G |
c.7488G>C
|
p.Gly2496=
|
- | 2.5 |
|
B | |
| 14637 | chr3 | 48570127 | G | A |
c.7485+7C>T
|
-
|
- | 3.0 |
|
B | |
| 19407 | chr3 | 48570309 | C | A |
c.7406G>T
|
p.Gly2469Val
|
- | 3.0 |
|
B | |
| 5817 | chr3 | 48570310 | C | T |
c.7405G>A
|
p.Gly2469Arg
|
- | 3.0 |
|
B | |
| 34715 | chr3 | 48570316 | G | C |
c.7399C>G
|
p.Leu2467Val
|
- | 3.0 |
|
B | |
| 3916 | chr3 | 48570338 | G | A |
c.7381-4C>T
|
-
|
- | 3.0 |
|
B | |
| 14638 | chr3 | 48570677 | G | A |
c.7306C>T
|
p.Pro2436Ser
|
3.0 |
|
B | ||
| 31657 | chr3 | 48570863 | G | A |
c.7270C>T
|
p.Arg2424Trp
|
3.5 |
|
B | ||
| 11082 | chr3 | 48570916 | G | A |
c.7217C>T
|
p.Pro2406Leu
|
2.5 |
|
B | ||
| 28144 | chr3 | 48571297 | C | T |
c.7069-19G>A
|
-
|
- | 3.0 |
|
B | |
| 23130 | chr3 | 48573063 | G | A |
c.6715-7C>T
|
-
|
- | 3.0 |
|
B |