Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27120 | chr11 | 125643801 | G | A |
c.824G>A
|
p.Arg275Lys
|
- | 3.0 |
|
B | |
| 7915 | chr11 | 125644187 | A | T |
c.1020A>T
|
p.Gln340His
|
- | 3.0 |
|
B | |
| 25380 | chr11 | 125644203 | C | A |
c.1036C>A
|
p.Gln346Lys
|
- | 3.0 |
|
B | |
| 9676 | chr11 | 125644246 | T | C |
c.1079T>C
|
p.Leu360Pro
|
- | 3.0 |
|
B | |
| 19713 | chr11 | 126267191 | CT | C |
c.509del
-
-
|
p.Lys170ArgfsTer33
-
-
|
3.0 |
|
B | ||
| 27131 | chr11 | 128463489 | G | A |
c.1242+20C>T
|
-
|
3.0 |
|
B | ||
| 22912 | chr11 | 128573097 | G | A |
c.34C>T
|
p.Pro12Ser
|
- | 3.0 |
|
B | |
| 16790 | chr11 | 128694250 | C | T |
c.-9C>T
|
-
|
- | 3.0 |
|
B | |
| 10549 | chr11 | 128694252 | T | C |
c.-7T>C
|
-
|
- | 3.0 |
|
B | |
| 9260 | chr11 | 128694280 | A | AGCGGCGGGGCAACGGACGCGG |
c.18+14_18+34dup
|
-
|
3.0 |
|
B | ||
| 27324 | chr11 | 128758166 | G | A |
c.70G>A
|
p.Gly24Arg
|
3.0 |
|
B | ||
| 34617 | chr11 | 128758206 | C | T |
c.110C>T
|
p.Ser37Leu
|
3.0 |
|
B | ||
| 12360 | chr11 | 128758267 | G | T |
c.171G>T
|
p.Trp57Cys
|
- | 3.0 |
|
B | |
| 3887 | chr11 | 128758310 | CACATGAATGGATCCAGGT | C |
c.216_230+3del
|
p.?
|
- | 3.0 |
|
B | |
| 13222 | chr11 | 128758311 | A | G |
c.215A>G
|
p.His72Arg
|
- | 3.0 |
|
B | |
| 13950 | chr11 | 128758335 | A | C |
c.230+9A>C
|
-
|
- | 3.0 |
|
B | |
| 32822 | chr11 | 128764653 | G | A |
c.231-3465G>A
|
-
|
3.0 |
|
B | ||
| 1708 | chr11 | 128764815 | G | T |
c.231-3303G>T
|
-
|
- | 3.0 |
|
B | |
| 24376 | chr11 | 128768239 | A | G |
c.352A>G
|
p.Thr118Ala
|
- | 3.0 |
|
B | |
| 13305 | chr11 | 128772782 | AC | A |
c.390del
|
p.Thr131HisfsTer8
|
- | 3.0 |
|
B |