Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28363 | chr17 | 7674871 | A | C |
c.660T>G
|
p.Tyr220Ter
|
- | 5.0 |
|
B | |
| 6820 | chr17 | 7674871 | A | T |
c.660T>A
|
p.Tyr220Ter
|
3.5 |
|
B | ||
| 1972 | chr17 | 7674872 | T | C |
c.659A>G
|
p.Tyr220Cys
|
4.0 |
|
B | ||
| 17649 | chr17 | 7674873 | A | G |
c.658T>C
|
p.Tyr220His
|
3.5 |
|
B | ||
| 31463 | chr17 | 7674873 | AG | A |
c.657del
|
p.Tyr220MetfsTer27
|
- | 4.0 |
|
B | |
| 6624 | chr17 | 7674876 | GCAC | G |
c.652_654del
|
p.Val218del
|
4.0 |
|
B | ||
| 21204 | chr17 | 7674884 | A | C |
c.647T>G
|
p.Val216Gly
|
3.5 |
|
B | ||
| 23119 | chr17 | 7674884 | A | T |
c.647T>A
|
p.Val216Glu
|
3.5 |
|
B | ||
| 31858 | chr17 | 7674885 | C | A |
c.646G>T
|
p.Val216Leu
|
3.5 |
|
B | ||
| 21679 | chr17 | 7674885 | C | G |
c.646G>C
|
p.Val216Leu
|
4.0 |
|
B | ||
| 1171 | chr17 | 7674885 | C | T |
c.646G>A
|
p.Val216Met
|
3.5 |
|
B | ||
| 8490 | chr17 | 7674886 | A | C |
c.645T>G
|
p.Ser215Arg
|
3.5 |
|
B | ||
| 27687 | chr17 | 7674886 | A | T |
c.645T>A
|
p.Ser215Arg
|
- | 3.0 |
|
B | |
| 34924 | chr17 | 7674887 | C | A |
c.644G>T
|
p.Ser215Ile
|
4.0 |
|
B | ||
| 25850 | chr17 | 7674887 | C | T |
c.644G>A
|
p.Ser215Asn
|
4.0 |
|
B | ||
| 5645 | chr17 | 7674888 | T | C |
c.643A>G
|
p.Ser215Gly
|
3.5 |
|
B | ||
| 32345 | chr17 | 7674888 | T | G |
c.643A>C
|
p.Ser215Arg
|
3.5 |
|
B | ||
| 2296 | chr17 | 7674890 | T | C |
c.641A>G
|
p.His214Arg
|
3.5 |
|
B | ||
| 27820 | chr17 | 7674893 | C | A |
c.638G>T
|
p.Arg213Leu
|
3.5 |
|
B | ||
| 2034 | chr17 | 7674893 | C | G |
c.638G>C
|
p.Arg213Pro
|
3.5 |
|
B |