Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15772 | chr9 | 136510733 | GT | G |
c.2659del
|
p.Thr887ProfsTer292
|
- | 4.0 |
|
B | |
| 15942 | chr9 | 136510794 | C | A |
c.2599G>T
|
p.Glu867Ter
|
- | 5.0 |
|
B | |
| 15943 | chr9 | 136510801 | C | A |
c.2592G>T
|
p.Gln864His
|
3.5 |
|
B | ||
| 1705 | chr9 | 136511203 | G | A |
c.2536C>T
|
p.Gln846Ter
|
- | 4.0 |
|
B | |
| 27991 | chr9 | 136511215 | C | T |
c.2524G>A
|
p.Gly842Arg
|
3.0 |
|
B | ||
| 14706 | chr9 | 136513020 | C | T |
c.2467+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 8719 | chr9 | 136513081 | G | A |
c.2407C>T
|
p.Gln803Ter
|
- | 4.5 |
|
B | |
| 15463 | chr9 | 136513372 | G | A |
c.2353+20C>T
|
-
|
- | 3.0 |
|
B | |
| 27555 | chr9 | 136513420 | GT | G |
c.2324del
|
p.Tyr775SerfsTer27
|
- | 4.0 |
|
B | |
| 32535 | chr9 | 136514504 | G | A |
c.2207+6C>T
|
-
|
3.0 |
|
B | ||
| 1143 | chr9 | 136514573 | G | T |
c.2144C>A
|
p.Ser715Tyr
|
3.0 |
|
B | ||
| 14705 | chr9 | 136515403 | G | T |
c.1904-3C>A
|
-
|
3.5 |
|
B | ||
| 10205 | chr9 | 136515481 | A | T |
c.1903+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 12282 | chr9 | 136515506 | C | T |
c.1880G>A
|
p.Cys627Tyr
|
- | 3.0 |
|
B | |
| 8644 | chr9 | 136515538 | G | GC |
c.1847dup
|
p.Thr617HisfsTer28
|
- | 4.0 |
|
B | |
| 9743 | chr9 | 136515655 | G | C |
c.1731C>G
|
p.Tyr577Ter
|
- | 4.0 |
|
B | |
| 19624 | chr9 | 136515704 | G | A |
c.1682C>T
|
p.Thr561Met
|
2.0 |
|
B | ||
| 20705 | chr9 | 136515719 | G | A |
c.1670-3C>T
|
-
|
3.0 |
|
B | ||
| 1689 | chr9 | 136516029 | C | A |
c.1621G>T
|
p.Ala541Ser
|
- | 3.0 |
|
B | |
| 34339 | chr9 | 136516044 | G | A |
c.1606C>T
|
p.Pro536Ser
|
- | 3.0 |
|
B |