Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32521 | chr9 | 128605058 | G | T |
c.3744G>T
|
p.Trp1248Cys
|
- | 3.0 |
|
B | |
| 515 | chr9 | 128605131 | C | T |
c.3817C>T
|
p.Arg1273Cys
|
2.0 |
|
B | ||
| 30462 | chr9 | 128605411 | G | A |
c.3980G>A
|
p.Arg1327His
|
3.0 |
|
B | ||
| 12691 | chr9 | 128607585 | C | T |
c.4047-19C>T
|
-
|
- | 3.0 |
|
B | |
| 28758 | chr9 | 128607866 | A | C |
c.4161A>C
|
p.Glu1387Asp
|
3.0 |
|
B | ||
| 6935 | chr9 | 128608026 | C | CA |
c.4321_4322insA
|
p.Leu1441HisfsTer6
|
- | 3.5 |
|
B | |
| 11579 | chr9 | 128608265 | A | AT |
c.4482dup
|
p.Asn1495Ter
|
- | 3.5 |
|
B | |
| 19564 | chr9 | 128608919 | G | A |
c.4537G>A
|
p.Ala1513Thr
|
3.0 |
|
B | ||
| 17064 | chr9 | 128608926 | G | A |
c.4544G>A
|
p.Gly1515Asp
|
- | 3.0 |
|
B | |
| 19566 | chr9 | 128611696 | T | A |
c.4774-18T>A
|
-
|
2.0 |
|
B | ||
| 6798 | chr9 | 128612124 | T | G |
c.4921T>G
|
p.Leu1641Val
|
3.0 |
|
B | ||
| 13737 | chr9 | 128612191 | A | G |
c.4988A>G
|
p.Asn1663Ser
|
3.0 |
|
B | ||
| 9992 | chr9 | 128613465 | G | A |
c.5128G>A
|
p.Ala1710Thr
|
- | 3.0 |
|
B | |
| 13262 | chr9 | 128615827 | G | T |
c.5344G>T
|
p.Glu1782Ter
|
- | 3.0 |
|
B | |
| 26448 | chr9 | 128617999 | AC | A |
c.5492del
|
p.Thr1831MetfsTer30
|
- | 3.0 |
|
B | |
| 19567 | chr9 | 128618032 | G | A |
c.5524G>A
|
p.Gly1842Arg
|
3.0 |
|
B | ||
| 28639 | chr9 | 128619021 | G | A |
c.5733+18G>A
|
-
|
2.5 |
|
B | ||
| 19569 | chr9 | 128621207 | A | T |
c.5783A>T
|
p.Lys1928Met
|
- | 3.0 |
|
B | |
| 6051 | chr9 | 128624386 | C | T |
c.5891C>T
|
p.Ser1964Leu
|
- | 3.0 |
|
B | |
| 6222 | chr9 | 128624411 | G | C |
c.5916G>C
|
p.Gln1972His
|
- | 3.0 |
|
B |