Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16336 | chr9 | 117713401 | G | A |
c.1273G>A
|
p.Glu425Lys
|
3.0 |
|
B | ||
| 22343 | chr9 | 117713410 | G | A |
c.1282G>A
|
p.Asp428Asn
|
3.0 |
|
B | ||
| 29267 | chr9 | 117713444 | A | C |
c.1316A>C
|
p.Glu439Ala
|
- | 3.0 |
|
B | |
| 12737 | chr9 | 117713581 | G | A |
c.1453G>A
|
p.Glu485Lys
|
3.0 |
|
B | ||
| 5718 | chr9 | 117713587 | T | G |
c.1459T>G
|
p.Phe487Val
|
- | 3.0 |
|
B | |
| 1792 | chr9 | 117713641 | C | T |
c.1513C>T
|
p.Gln505Ter
|
- | 3.0 |
|
B | |
| 10727 | chr9 | 117713653 | G | C |
c.1525G>C
|
p.Glu509Gln
|
- | 3.0 |
|
B | |
| 2634 | chr9 | 117713654 | A | G |
c.1526A>G
|
p.Glu509Gly
|
- | 3.0 |
|
B | |
| 15630 | chr9 | 117713753 | G | T |
c.1625G>T
|
p.Cys542Phe
|
- | 3.0 |
|
B | |
| 26418 | chr9 | 117713813 | A | C |
c.1685A>C
|
p.Gln562Pro
|
- | 3.0 |
|
B | |
| 3998 | chr9 | 117713815 | G | A |
c.1687G>A
|
p.Glu563Lys
|
- | 3.0 |
|
B | |
| 1178 | chr9 | 117713817 | A | C |
c.1689A>C
|
p.Glu563Asp
|
- | 3.0 |
|
B | |
| 24418 | chr9 | 117713840 | T | C |
c.1712T>C
|
p.Leu571Pro
|
- | 3.0 |
|
B | |
| 30724 | chr9 | 117713944 | C | T |
c.1816C>T
|
p.Arg606Ter
|
3.0 |
|
B | ||
| 3051 | chr9 | 117714264 | T | G |
c.2136T>G
|
p.Phe712Leu
|
- | 3.0 |
|
B | |
| 8937 | chr9 | 117714416 | G | C |
c.2288G>C
|
p.Arg763Pro
|
- | 3.0 |
|
B | |
| 12630 | chr9 | 117714451 | G | T |
c.2323G>T
|
p.Glu775Ter
|
- | 3.0 |
|
B | |
| 13339 | chr9 | 117714464 | T | C |
c.2336T>C
|
p.Leu779Pro
|
- | 3.0 |
|
B | |
| 7644 | chr9 | 117714511 | C | G |
c.2383C>G
|
p.Leu795Val
|
3.0 |
|
B | ||
| 29642 | chr9 | 117714567 | A | C |
c.2439A>C
|
p.Lys813Asn
|
- | 3.0 |
|
B |