Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22903 | chr11 | 12930237 | G | A |
c.1078G>A
|
p.Glu360Lys
|
- | 3.0 |
|
B | |
| 19699 | chr11 | 12937089 | CT | C |
c.1168-11del
|
-
|
2.0 |
|
B | ||
| 19647 | chr11 | 14294582 | TA | T |
c.300-4del
|
-
|
2.0 |
|
B | ||
| 20246 | chr11 | 14294582 | TAA | T |
c.300-5_300-4del
|
-
|
3.0 |
|
B | ||
| 20371 | chr11 | 14294582 | TAAA | T |
c.300-6_300-4del
|
-
|
- | 3.0 |
|
B | |
| 16104 | chr11 | 14294844 | T | A |
c.215A>T
|
p.Gln72Leu
|
4.5 |
|
B | ||
| 22230 | chr11 | 14295834 | C | A |
c.130G>T
|
p.Asp44Tyr
|
- | 3.0 |
|
B | |
| 29254 | chr11 | 14358792 | T | TGCCCACGCC |
c.70_78dup
|
p.Gly24_Gly26dup
|
3.5 |
|
B | ||
| 29118 | chr11 | 14358803 | C | A |
c.68G>T
|
p.Gly23Val
|
4.5 |
|
B | ||
| 3440 | chr11 | 17406643 | C | T |
c.3308G>A
|
p.Arg1103Gln
|
3.0 |
|
B | ||
| 3679 | chr11 | 17504658 | C | T |
c.2173G>A
|
p.Ala725Thr
|
- | 3.0 |
|
B | |
| 21916 | chr11 | 17719801 | C | G |
c.19C>G
|
p.Pro7Ala
|
- | 3.0 |
|
B | |
| 12134 | chr11 | 17719833 | C | T |
c.51C>T
|
p.Asp17=
|
- | 3.0 |
|
B | |
| 26001 | chr11 | 17719883 | G | A |
c.101G>A
|
p.Cys34Tyr
|
3.0 |
|
B | ||
| 7156 | chr11 | 17719935 | G | A |
c.153G>A
|
p.Met51Ile
|
3.0 |
|
B | ||
| 20372 | chr11 | 17719946 | C | T |
c.164C>T
|
p.Ala55Val
|
- | 3.0 |
|
B | |
| 17616 | chr11 | 17720002 | G | A |
c.220G>A
|
p.Gly74Ser
|
- | 3.0 |
|
B | |
| 29242 | chr11 | 17720029 | G | A |
c.247G>A
|
p.Ala83Thr
|
- | 3.0 |
|
B | |
| 20639 | chr11 | 17720111 | G | A |
c.329G>A
|
p.Arg110His
|
- | 3.0 |
|
B | |
| 1065 | chr11 | 17720135 | A | C |
c.353A>C
|
p.Glu118Ala
|
- | 3.0 |
|
B |