Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28635 | chr7 | 41690213 | C | T |
c.718G>A
|
p.Val240Ile
|
3.0 |
|
B | ||
| 16899 | chr7 | 41690216 | C | T |
c.715G>A
|
p.Asp239Asn
|
- | 3.0 |
|
B | |
| 3176 | chr7 | 41690219 | G | T |
c.712C>A
|
p.Leu238Met
|
- | 3.0 |
|
B | |
| 12242 | chr7 | 41690320 | A | T |
c.611T>A
|
p.Leu204Gln
|
- | 3.0 |
|
B | |
| 33492 | chr7 | 41690345 | C | T |
c.586G>A
|
p.Gly196Ser
|
3.0 |
|
B | ||
| 18106 | chr7 | 41690351 | C | T |
c.580G>A
|
p.Glu194Lys
|
3.0 |
|
B | ||
| 6354 | chr7 | 41690387 | G | T |
c.544C>A
|
p.Pro182Thr
|
- | 3.0 |
|
B | |
| 18956 | chr7 | 41690421 | T | A |
c.510A>T
|
p.Lys170Asn
|
- | 3.0 |
|
B | |
| 12387 | chr7 | 41690468 | C | T |
c.463G>A
|
p.Val155Ile
|
- | 3.0 |
|
B | |
| 7480 | chr7 | 41690469 | T | G |
c.462A>C
|
p.Glu154Asp
|
- | 3.0 |
|
B | |
| 7397 | chr7 | 41690480 | C | A |
c.451G>T
|
p.Glu151Ter
|
- | 3.5 |
|
B | |
| 16101 | chr7 | 41690492 | G | T |
c.439C>A
|
p.Leu147Met
|
- | 3.0 |
|
B | |
| 26992 | chr7 | 41690504 | C | T |
c.427G>A
|
p.Glu143Lys
|
- | 3.0 |
|
B | |
| 1345 | chr7 | 41700106 | A | C |
c.269T>G
|
p.Leu90Arg
|
- | 3.0 |
|
B | |
| 6111 | chr7 | 41700242 | T | A |
c.133A>T
|
p.Lys45Ter
|
- | 3.5 |
|
B | |
| 24985 | chr7 | 41700298 | G | A |
c.77C>T
|
p.Ser26Phe
|
3.0 |
|
B | ||
| 25334 | chr7 | 41700364 | A | G |
c.11T>C
|
p.Leu4Pro
|
- | 3.0 |
|
B | |
| 1159 | chr7 | 41964463 | C | T |
c.4610G>A
|
p.Arg1537His
|
2.5 |
|
B | ||
| 29240 | chr7 | 41964554 | C | T |
c.4519G>A
|
p.Asp1507Asn
|
3.0 |
|
B | ||
| 14198 | chr7 | 41964629 | G | A |
c.4444C>T
|
p.Pro1482Ser
|
- | 3.0 |
|
B |