Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4266 | chr11 | 3778983 | C | T |
c.245G>A
|
p.Gly82Asp
|
- | 3.0 |
|
B | |
| 18683 | chr11 | 3779052 | G | A |
c.179-3C>T
|
-
|
3.0 |
|
B | ||
| 3439 | chr11 | 4367424 | G | A |
c.872C>T
|
p.Pro291Leu
|
- | 3.0 |
|
B | |
| 4845 | chr11 | 5544938 | C | T |
c.568G>A
|
p.Ala190Thr
|
3.0 |
|
B | ||
| 28065 | chr11 | 5666090 | TA | T |
c.768-10del
|
-
|
3.0 |
|
B | ||
| 8754 | chr11 | 5778421 | CA | C |
c.213del
|
p.Phe71LeufsTer59
|
3.0 |
|
B | ||
| 3678 | chr11 | 6984198 | T | TC |
c.876dup
|
p.Trp293LeufsTer12
|
- | 3.0 |
|
B | |
| 4514 | chr11 | 7700352 | C | T |
c.845G>A
|
p.Gly282Glu
|
- | 3.0 |
|
B | |
| 18848 | chr11 | 8230514 | G | T |
c.26-10C>A
|
-
|
3.0 |
|
B | ||
| 34115 | chr11 | 8268430 | C | A |
-
|
-
|
- | 3.0 |
|
B | |
| 11217 | chr11 | 9494689 | A | C |
c.689A>C
|
p.Gln230Pro
|
- | 3.0 |
|
B | |
| 13592 | chr11 | 9832241 | T | G |
c.3635A>C
|
p.Gln1212Pro
|
- | 3.0 |
|
B | |
| 16231 | chr11 | 10752671 | G | A |
c.46-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 25063 | chr11 | 10755031 | T | G |
c.218T>G
|
p.Leu73Trp
|
- | 3.0 |
|
B | |
| 703 | chr11 | 10755064 | C | T |
c.251C>T
|
p.Thr84Ile
|
3.0 |
|
B | ||
| 9673 | chr11 | 10755712 | T | G |
c.419T>G
|
p.Leu140Arg
|
- | 3.0 |
|
B | |
| 14597 | chr11 | 10755803 | GT | G |
c.502+9del
|
-
|
- | 3.0 |
|
B | |
| 30337 | chr11 | 10756747 | A | T |
c.503-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 23718 | chr11 | 10760181 | C | T |
c.601C>T
|
p.Arg201Cys
|
4.0 |
|
B | ||
| 33082 | chr11 | 10760254 | T | A |
c.674T>A
|
p.Leu225Gln
|
- | 3.0 |
|
B |