Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26229 | chr13 | 51942533 | C | T |
c.3265G>A
|
p.Gly1089Arg
|
3.0 |
|
B | ||
| 27670 | chr13 | 51944108 | C | T |
c.3243+1G>A
|
p.?
|
3.5 |
|
B | ||
| 18152 | chr13 | 51944195 | G | A |
c.3157C>T
|
p.Leu1053Phe
|
3.0 |
|
B | ||
| 14219 | chr13 | 51946479 | C | T |
c.2866-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 15549 | chr13 | 51949754 | C | A |
c.2773G>T
|
p.Val925Phe
|
3.0 |
|
B | ||
| 17806 | chr13 | 51950172 | G | A |
c.2576-11C>T
|
-
|
2.5 |
|
B | ||
| 26433 | chr13 | 51950267 | C | T |
c.2575+5G>A
|
-
|
- | 3.0 |
|
B | |
| 19733 | chr13 | 51950290 | C | T |
c.2557G>A
|
p.Asp853Asn
|
- | 3.0 |
|
B | |
| 24108 | chr13 | 51958523 | A | T |
c.2143T>A
|
p.Tyr715Asn
|
- | 3.0 |
|
B | |
| 28787 | chr13 | 51960133 | C | G |
c.2121+15G>C
|
-
|
- | 3.0 |
|
B | |
| 23363 | chr13 | 51960177 | T | G |
c.2092A>C
|
p.Ile698Leu
|
3.0 |
|
B | ||
| 31671 | chr13 | 51961898 | C | T |
c.1885G>A
|
p.Ala629Thr
|
3.0 |
|
B | ||
| 14525 | chr13 | 51968426 | C | T |
c.1707+18G>A
|
-
|
2.0 |
|
B | ||
| 32045 | chr13 | 51968464 | C | A |
c.1687G>T
|
p.Asp563Tyr
|
3.0 |
|
B | ||
| 24668 | chr13 | 51968548 | C | G |
c.1603G>C
|
p.Glu535Gln
|
- | 3.0 |
|
B | |
| 30648 | chr13 | 51968613 | A | G |
c.1544-6T>C
|
-
|
3.0 |
|
B | ||
| 18153 | chr13 | 51970731 | G | A |
c.1304C>T
|
p.Pro435Leu
|
- | 3.0 |
|
B | |
| 31081 | chr13 | 51974064 | C | T |
c.1156G>A
|
p.Gly386Arg
|
3.0 |
|
B | ||
| 23520 | chr13 | 51974217 | C | A |
c.1003G>T
|
p.Gly335Trp
|
- | 3.0 |
|
B | |
| 16088 | chr13 | 51975119 | T | G |
c.101A>C
|
p.Lys34Thr
|
- | 3.0 |
|
B |