Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22347 | chr9 | 136496427 | G | A |
c.7312C>T
|
p.Pro2438Ser
|
2.5 |
|
B | ||
| 5533 | chr9 | 136496447 | C | T |
c.7292G>A
|
p.Arg2431Gln
|
2.5 |
|
B | ||
| 15310 | chr9 | 136496448 | GGCCCAGGT | G |
c.7283_7290del
|
p.His2428ProfsTer76
|
- | 4.0 |
|
B | |
| 4893 | chr9 | 136496450 | C | CCA |
c.7288_7289insTG
|
p.Gly2430ValfsTer6
|
- | 4.0 |
|
B | |
| 6143 | chr9 | 136496466 | C | T |
c.7273G>A
|
p.Ala2425Thr
|
3.0 |
|
B | ||
| 19203 | chr9 | 136496492 | TGTG | T |
c.7244_7246del
|
p.Pro2415del
|
2.5 |
|
B | ||
| 32959 | chr9 | 136496508 | G | T |
c.7231C>A
|
p.Pro2411Thr
|
- | 3.0 |
|
B | |
| 679 | chr9 | 136496757 | C | A |
c.6982G>T
|
p.Gly2328Trp
|
- | 3.0 |
|
B | |
| 6663 | chr9 | 136496925 | G | A |
c.6814C>T
|
p.Arg2272Cys
|
2.5 |
|
B | ||
| 6799 | chr9 | 136496984 | T | G |
c.6755A>C
|
p.Lys2252Thr
|
- | 3.0 |
|
B | |
| 17317 | chr9 | 136497512 | G | A |
c.6227C>T
|
p.Thr2076Ile
|
2.0 |
|
B | ||
| 33351 | chr9 | 136497559 | C | T |
c.6181-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 29443 | chr9 | 136499235 | C | T |
c.5959G>A
|
p.Asp1987Asn
|
- | 3.0 |
|
B | |
| 17079 | chr9 | 136500682 | G | T |
c.5804C>A
|
p.Ala1935Asp
|
- | 3.0 |
|
B | |
| 727 | chr9 | 136500761 | C | A |
c.5725G>T
|
p.Val1909Phe
|
- | 3.0 |
|
B | |
| 28107 | chr9 | 136500820 | G | A |
c.5666C>T
|
p.Ser1889Phe
|
- | 3.0 |
|
B | |
| 29444 | chr9 | 136500848 | C | G |
c.5639-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 15821 | chr9 | 136502029 | TC | T |
c.5443del
|
p.Asp1815ThrfsTer72
|
- | 4.0 |
|
B | |
| 11828 | chr9 | 136502058 | GA | G |
c.5414del
|
p.Leu1805ProfsTer82
|
- | 4.0 |
|
B | |
| 21037 | chr9 | 136502300 | G | A |
c.5356C>T
|
p.Pro1786Ser
|
3.0 |
|
B |