Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17525 | chr11 | 105007313 | GT | G |
c.202del
|
p.Thr68GlnfsTer26
|
3.0 |
|
B | ||
| 17586 | chr11 | 108227658 | T | C |
c.34T>C
|
p.Cys12Arg
|
3.0 |
|
B | ||
| 5367 | chr11 | 108227662 | G | A |
c.38G>A
|
p.Arg13His
|
3.0 |
|
B | ||
| 430 | chr11 | 108227691 | C | T |
c.67C>T
|
p.Arg23Ter
|
5.0 |
|
A | ||
| 431 | chr11 | 108229177 | G | C |
c.186-1G>C
|
p.?
|
- | 4.33 |
|
A | |
| 5562 | chr11 | 108229197 | C | T |
c.205C>T
|
p.Gln69Ter
|
4.0 |
|
B | ||
| 19211 | chr11 | 108229200 | A | T |
c.208A>T
|
p.Lys70Ter
|
- | 4.0 |
|
B | |
| 1322 | chr11 | 108229204 | A | G |
c.212A>G
|
p.Glu71Gly
|
- | 3.0 |
|
B | |
| 14158 | chr11 | 108229246 | C | G |
c.254C>G
|
p.Ser85Ter
|
- | 4.0 |
|
B | |
| 2526 | chr11 | 108235679 | G | A |
c.341G>A
|
p.Arg114Lys
|
3.0 |
|
B | ||
| 32380 | chr11 | 108235690 | C | T |
c.352C>T
|
p.Gln118Ter
|
5.0 |
|
B | ||
| 33129 | chr11 | 108235751 | G | T |
c.413G>T
|
p.Gly138Val
|
- | 3.0 |
|
B | |
| 33501 | chr11 | 108243966 | G | T |
c.510G>T
|
p.Val170=
|
- | 3.0 |
|
B | |
| 22359 | chr11 | 108243989 | C | T |
c.533C>T
|
p.Pro178Leu
|
3.0 |
|
B | ||
| 19212 | chr11 | 108244009 | GT | G |
c.557del
|
p.Leu186Ter
|
- | 4.0 |
|
B | |
| 13989 | chr11 | 108244846 | A | C |
c.721A>C
|
p.Lys241Gln
|
- | 3.0 |
|
B | |
| 28030 | chr11 | 108244867 | C | T |
c.742C>T
|
p.Arg248Ter
|
4.5 |
|
B | ||
| 26384 | chr11 | 108246976 | C | G |
c.914C>G
|
p.Ser305Ter
|
- | 4.0 |
|
B | |
| 1802 | chr11 | 108247039 | T | A |
c.977T>A
|
p.Ile326Lys
|
- | 3.0 |
|
B | |
| 5384 | chr11 | 108247071 | C | T |
c.1009C>T
|
p.Arg337Cys
|
3.0 |
|
B |