Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12606 | chr11 | 94470539 | G | A |
c.949C>T
|
p.His317Tyr
|
- | 3.0 |
|
B | |
| 19210 | chr11 | 94470584 | G | A |
c.904C>T
|
p.His302Tyr
|
- | 3.0 |
|
B | |
| 30152 | chr11 | 94470604 | T | A |
c.884A>T
|
p.Asn295Ile
|
- | 3.0 |
|
B | |
| 8170 | chr11 | 94471704 | C | T |
c.715G>A
|
p.Asp239Asn
|
- | 3.0 |
|
B | |
| 429 | chr11 | 94476377 | G | A |
c.571C>T
|
p.Arg191Ter
|
3.0 |
|
B | ||
| 17617 | chr11 | 94476404 | C | T |
c.545-1G>A
|
p.?
|
5.0 |
|
B | ||
| 9137 | chr11 | 94478877 | CTATGCAAAATAATTTCAAAGAATGTTAGTGTG | C |
c.403-33_403-2del
|
p.?
|
- | 4.0 |
|
B | |
| 627 | chr11 | 94478882 | C | T |
c.403-6G>A
|
-
|
1.0 |
|
B | ||
| 6571 | chr11 | 94479668 | AATTACCCCTGTGGGATCGTCATG | A |
c.385_402+5del
|
p.?
|
- | 4.0 |
|
B | |
| 19656 | chr11 | 94479764 | TAA | T |
c.315-5_315-4del
|
-
|
3.0 |
|
B | ||
| 18458 | chr11 | 94490859 | T | C |
c.127A>G
-
|
p.Ile43Val
-
|
- | 3.0 |
|
B | |
| 4085 | chr11 | 95067596 | C | G |
c.370C>G
|
p.Arg124Gly
|
3.0 |
|
B | ||
| 7285 | chr11 | 95790743 | G | C |
c.45G>C
-
|
p.Ser15=
-
|
- | 3.0 |
|
B | |
| 13719 | chr11 | 95799308 | C | T |
c.122C>T
|
p.Ser41Leu
|
3.0 |
|
B | ||
| 18497 | chr11 | 95813536 | C | T |
c.451C>T
|
p.Arg151Ter
|
3.0 |
|
B | ||
| 25100 | chr11 | 95817786 | GGTTTCCCTAGAAAGAGAAC | G |
c.506_524del
|
p.Val169AspfsTer64
|
- | 3.0 |
|
B | |
| 23312 | chr11 | 95822587 | C | G |
c.885+11C>G
|
-
|
3.0 |
|
B | ||
| 24665 | chr11 | 95827834 | C | T |
c.934C>T
|
p.His312Tyr
|
- | 3.0 |
|
B | |
| 13949 | chr11 | 95827936 | T | G |
-
c.1036T>G
|
-
p.Leu346Val
|
- | 3.0 |
|
B | |
| 20072 | chr11 | 95831089 | GAAGA | G |
-
c.1343_1346del
|
-
p.Arg448ThrfsTer18
|
- | 3.0 |
|
B |