Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16361 | chr3 | 121476522 | C | G |
c.6405+18G>C
|
-
|
- | 3.0 |
|
B | |
| 22719 | chr3 | 121481737 | C | G |
c.6046G>C
|
p.Glu2016Gln
|
- | 3.0 |
|
B | |
| 30546 | chr3 | 121481787 | T | A |
c.5996A>T
|
p.Asp1999Val
|
- | 3.0 |
|
B | |
| 20508 | chr3 | 121481830 | G | A |
c.5971-18C>T
|
-
|
- | 3.0 |
|
B | |
| 5785 | chr3 | 121483474 | G | A |
c.5882C>T
|
p.Ser1961Phe
|
3.0 |
|
B | ||
| 33252 | chr3 | 121485082 | T | G |
c.5732A>C
|
p.Asp1911Ala
|
- | 3.0 |
|
B | |
| 30776 | chr3 | 121485191 | A | T |
c.5630-7T>A
|
-
|
- | 3.0 |
|
B | |
| 9503 | chr3 | 121487443 | C | T |
c.5488G>A
|
p.Val1830Ile
|
- | 3.0 |
|
B | |
| 24270 | chr3 | 121487571 | G | T |
c.5360C>A
|
p.Pro1787Gln
|
- | 3.0 |
|
B | |
| 35400 | chr3 | 121487619 | C | A |
c.5312G>T
|
p.Ser1771Ile
|
- | 3.0 |
|
B | |
| 10034 | chr3 | 121487674 | G | A |
c.5257C>T
|
p.Leu1753Phe
|
3.0 |
|
B | ||
| 21613 | chr3 | 121487709 | G | A |
c.5222C>T
|
p.Pro1741Leu
|
- | 3.0 |
|
B | |
| 1781 | chr3 | 121488156 | T | C |
c.4775A>G
|
p.Glu1592Gly
|
- | 3.0 |
|
B | |
| 29191 | chr3 | 121488261 | A | G |
c.4670T>C
|
p.Ile1557Thr
|
3.0 |
|
B | ||
| 12662 | chr3 | 121488324 | G | A |
c.4607C>T
|
p.Ser1536Leu
|
- | 3.0 |
|
B | |
| 1226 | chr3 | 121488375 | G | A |
c.4556C>T
|
p.Ser1519Leu
|
- | 3.0 |
|
B | |
| 24271 | chr3 | 121488407 | T | G |
c.4524A>C
|
p.Gln1508His
|
- | 3.0 |
|
B | |
| 13518 | chr3 | 121488641 | T | A |
c.4290A>T
|
p.Leu1430Phe
|
3.0 |
|
B | ||
| 17334 | chr3 | 121488641 | T | TA |
c.4289dup
|
p.Leu1430PhefsTer5
|
3.0 |
|
B | ||
| 18855 | chr3 | 121488658 | C | G |
c.4273G>C
|
p.Glu1425Gln
|
- | 3.0 |
|
B |