Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12135 | chr14 | 81144160 | G | A |
c.2102G>A
|
p.Arg701His
|
3.0 |
|
B | ||
| 4752 | chr14 | 81261882 | G | A |
c.*6532C>T
|
-
|
- | 3.0 |
|
B | |
| 4753 | chr14 | 90062339 | A | T |
c.134A>T
|
p.His45Leu
|
- | 3.0 |
|
B | |
| 4754 | chr14 | 91160374 | G | A |
c.80G>A
|
p.Arg27Lys
|
3.0 |
|
B | ||
| 5209 | chr14 | 91481970 | A | T |
c.521T>A
|
p.Leu174Gln
|
- | 3.0 |
|
B | |
| 21235 | chr14 | 91974666 | G | C |
c.5535C>G
|
p.Asn1845Lys
|
- | 3.0 |
|
B | |
| 15301 | chr14 | 91974671 | G | A |
c.5530C>T
|
p.Pro1844Ser
|
- | 3.0 |
|
B | |
| 22166 | chr14 | 91976105 | T | A |
c.5342+3A>T
|
-
|
- | 3.0 |
|
B | |
| 30909 | chr14 | 91976206 | G | A |
c.5261-17C>T
|
-
|
- | 3.0 |
|
B | |
| 15405 | chr14 | 91993818 | T | C |
c.5151A>G
|
p.Ile1717Met
|
3.0 |
|
B | ||
| 30855 | chr14 | 91995476 | C | A |
c.4932G>T
|
p.Gln1644His
|
- | 3.0 |
|
B | |
| 33955 | chr14 | 91995526 | A | G |
c.4893-11T>C
|
-
|
- | 3.0 |
|
B | |
| 16955 | chr14 | 91999405 | C | A |
c.4727G>T
|
p.Arg1576Leu
|
- | 3.0 |
|
B | |
| 27088 | chr14 | 91999437 | G | A |
c.4699-4C>T
|
-
|
- | 3.0 |
|
B | |
| 18460 | chr14 | 92004264 | C | T |
c.3712G>A
|
p.Glu1238Lys
|
3.0 |
|
B | ||
| 29186 | chr14 | 92004319 | C | G |
c.3657G>C
|
p.Lys1219Asn
|
- | 3.0 |
|
B | |
| 33956 | chr14 | 92004333 | T | A |
c.3643A>T
|
p.Lys1215Ter
|
- | 3.0 |
|
B | |
| 23001 | chr14 | 92005853 | T | G |
c.2123A>C
|
p.Asn708Thr
|
- | 3.0 |
|
B | |
| 21044 | chr14 | 92006276 | C | G |
c.1700G>C
|
p.Ser567Thr
|
- | 3.0 |
|
B | |
| 21938 | chr14 | 92006370 | G | C |
c.1606C>G
|
p.Leu536Val
|
- | 3.0 |
|
B |