Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5613 | chr7 | 42048631 | C | T |
c.539G>A
|
p.Arg180Gln
|
2.5 |
|
B | ||
| 29936 | chr7 | 42048640 | G | A |
c.530C>T
|
p.Ser177Phe
|
- | 3.0 |
|
B | |
| 10569 | chr7 | 42048702 | T | C |
c.474-6A>G
|
-
|
2.0 |
|
B | ||
| 23863 | chr7 | 42076809 | G | C |
c.416C>G
|
p.Ala139Gly
|
- | 3.0 |
|
B | |
| 35141 | chr7 | 42118338 | A | G |
c.367+29888T>C
|
-
|
- | 3.0 |
|
B | |
| 11534 | chr7 | 42148274 | T | C |
c.319A>G
|
p.Thr107Ala
|
2.5 |
|
B | ||
| 7627 | chr7 | 42148274 | T | G |
c.319A>C
|
p.Thr107Pro
|
- | 3.0 |
|
B | |
| 31406 | chr7 | 42148277 | C | T |
c.316G>A
|
p.Gly106Arg
|
3.0 |
|
B | ||
| 5904 | chr7 | 42148291 | GA | G |
c.301del
|
p.Ser101LeufsTer58
|
- | 3.0 |
|
B | |
| 3399 | chr7 | 44005203 | A | C |
c.728A>C
|
p.Gln243Pro
|
- | 3.0 |
|
B | |
| 7355 | chr7 | 45574796 | G | A |
c.253G>A
|
p.Gly85Arg
|
- | 3.0 |
|
B | |
| 5513 | chr7 | 45574971 | G | T |
c.428G>T
|
p.Gly143Val
|
- | 3.0 |
|
B | |
| 26496 | chr7 | 45592743 | C | A |
c.640-16C>A
|
-
|
- | 3.0 |
|
B | |
| 6870 | chr7 | 45592762 | G | C |
c.643G>C
|
p.Gly215Arg
|
- | 3.0 |
|
B | |
| 19482 | chr7 | 45592783 | G | A |
c.664G>A
|
p.Val222Ile
|
3.0 |
|
B | ||
| 2552 | chr7 | 45592813 | C | T |
c.694C>T
|
p.Arg232Trp
|
3.0 |
|
B | ||
| 31127 | chr7 | 45592909 | G | T |
c.789+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 8023 | chr7 | 45610382 | C | T |
c.793C>T
|
p.Arg265Trp
|
- | 3.0 |
|
B | |
| 19483 | chr7 | 45610383 | G | A |
c.794G>A
|
p.Arg265Gln
|
3.0 |
|
B | ||
| 32416 | chr7 | 45610406 | C | T |
c.817C>T
|
p.Arg273Trp
|
3.0 |
|
B |