Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22408 | chr20 | 42350742 | A | T |
c.1763-12T>A
|
-
|
- | 3.0 |
|
B | |
| 18189 | chr20 | 42352066 | C | T |
c.1762+18G>A
|
-
|
3.0 |
|
B | ||
| 3870 | chr20 | 42352105 | G | A |
c.1741C>T
|
p.Arg581Trp
|
3.0 |
|
B | ||
| 11081 | chr20 | 42352187 | A | G |
c.1659T>C
|
p.Phe553=
|
- | 3.0 |
|
B | |
| 23780 | chr20 | 42352204 | C | T |
c.1642G>A
|
p.Glu548Lys
|
- | 3.0 |
|
B | |
| 27372 | chr20 | 42352232 | C | G |
c.1614G>C
|
p.Gln538His
|
- | 3.0 |
|
B | |
| 4965 | chr20 | 42352263 | G | A |
c.1583C>T
|
p.Ser528Leu
|
3.0 |
|
B | ||
| 5416 | chr20 | 42352292 | G | A |
c.1561-7C>T
|
-
|
3.0 |
|
B | ||
| 12775 | chr20 | 42448255 | G | A |
c.1525C>T
|
p.Pro509Ser
|
- | 3.0 |
|
B | |
| 11117 | chr20 | 42448260 | T | C |
c.1520A>G
|
p.Lys507Arg
|
- | 3.0 |
|
B | |
| 27715 | chr20 | 42448290 | G | C |
c.1490C>G
|
p.Pro497Arg
|
- | 3.0 |
|
B | |
| 4299 | chr20 | 42448293 | C | T |
c.1487G>A
|
p.Gly496Glu
|
3.0 |
|
B | ||
| 23741 | chr20 | 42448300 | G | A |
c.1480C>T
|
p.Gln494Ter
|
- | 4.0 |
|
B | |
| 32056 | chr20 | 42448318 | C | A |
c.1462G>T
|
p.Val488Phe
|
3.0 |
|
B | ||
| 7552 | chr20 | 42472267 | G | A |
c.1449C>T
|
p.Asp483=
|
3.5 |
|
B | ||
| 27056 | chr20 | 42472327 | C | A |
c.1389G>T
|
p.Leu463Phe
|
3.0 |
|
B | ||
| 1771 | chr20 | 42472334 | C | T |
c.1382G>A
|
p.Arg461Gln
|
3.0 |
|
B | ||
| 1714 | chr20 | 42472524 | T | G |
c.1192A>C
|
p.Ile398Leu
|
3.0 |
|
B | ||
| 1278 | chr20 | 42472568 | A | C |
c.1154-6T>G
|
-
|
- | 3.5 |
|
B | |
| 11914 | chr20 | 42472572 | A | T |
c.1154-10T>A
|
-
|
- | 3.0 |
|
B |