Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15820 | chr9 | 95447334 | T | TG |
c.3921dup
|
p.Arg1308GlnfsTer17
|
4.0 |
|
B | ||
| 2900 | chr9 | 95447334 | TG | T |
c.3921del
|
p.Arg1308GlufsTer64
|
- | 4.0 |
|
B | |
| 33698 | chr9 | 95447348 | C | T |
c.3908G>A
|
p.Arg1303His
|
2.0 |
|
B | ||
| 1034 | chr9 | 95447355 | G | T |
c.3901C>A
|
p.Gln1301Lys
|
- | 3.0 |
|
B | |
| 6050 | chr9 | 95447381 | G | A |
c.3875C>T
|
p.Ser1292Phe
|
3.0 |
|
B | ||
| 16765 | chr9 | 95447400 | G | A |
c.3856C>T
|
p.Pro1286Ser
|
- | 3.0 |
|
B | |
| 31916 | chr9 | 95447405 | T | C |
c.3851A>G
|
p.Gln1284Arg
|
- | 3.0 |
|
B | |
| 16766 | chr9 | 95447441 | G | A |
c.3815C>T
|
p.Pro1272Leu
|
3.0 |
|
B | ||
| 13015 | chr9 | 95447457 | G | C |
c.3805-6C>G
|
-
|
- | 3.0 |
|
B | |
| 2453 | chr9 | 95449236 | G | A |
c.3637C>T
|
p.His1213Tyr
|
- | 3.0 |
|
B | |
| 22895 | chr9 | 95449292 | G | A |
c.3581C>T
|
p.Pro1194Leu
|
- | 3.0 |
|
B | |
| 4395 | chr9 | 95449945 | G | A |
c.3450-5C>T
|
-
|
- | 3.0 |
|
B | |
| 23258 | chr9 | 95453467 | C | T |
c.3449+11G>A
|
-
|
2.0 |
|
B | ||
| 13659 | chr9 | 95453477 | C | T |
c.3449+1G>A
|
p.?
|
4.0 |
|
B | ||
| 14938 | chr9 | 95453533 | A | G |
c.3394T>C
|
p.Ser1132Pro
|
3.5 |
|
B | ||
| 34775 | chr9 | 95453589 | C | T |
c.3338G>A
|
p.Arg1113His
|
2.5 |
|
B | ||
| 18590 | chr9 | 95456299 | C | T |
c.3283G>A
|
p.Glu1095Lys
|
- | 3.0 |
|
B | |
| 21522 | chr9 | 95458107 | C | T |
c.3074G>A
|
p.Arg1025His
|
2.5 |
|
B | ||
| 18634 | chr9 | 95458113 | C | G |
c.3068G>C
|
p.Gly1023Ala
|
3.0 |
|
B | ||
| 18754 | chr9 | 95458128 | C | A |
c.3053G>T
|
p.Trp1018Leu
|
- | 3.0 |
|
B |