Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2223 | chr20 | 4869922 | TG | T |
c.1233del
|
p.Ile412SerfsTer4
|
3.0 |
|
B | ||
| 12509 | chr20 | 9539573 | C | A |
c.2049G>T
|
p.Arg683Ser
|
- | 3.0 |
|
B | |
| 5435 | chr20 | 9539585 | C | G |
c.2037G>C
|
p.Leu679Phe
|
- | 3.0 |
|
B | |
| 11853 | chr20 | 9539620 | G | A |
c.2005-3C>T
|
-
|
3.0 |
|
B | ||
| 23887 | chr20 | 9539627 | C | A |
c.2005-10G>T
|
-
|
- | 3.0 |
|
B | |
| 19801 | chr20 | 9542623 | C | T |
c.1967G>A
|
p.Arg656Gln
|
3.0 |
|
B | ||
| 14363 | chr20 | 9544369 | C | T |
c.1869G>A
|
p.Glu623=
|
- | 3.0 |
|
B | |
| 17419 | chr20 | 9544371 | C | T |
c.1867G>A
|
p.Glu623Lys
|
- | 3.0 |
|
B | |
| 18345 | chr20 | 9544418 | G | A |
c.1820C>T
|
p.Pro607Leu
|
3.0 |
|
B | ||
| 32942 | chr20 | 9544449 | C | A |
c.1789G>T
|
p.Val597Leu
|
- | 3.0 |
|
B | |
| 10813 | chr20 | 9544503 | G | A |
c.1744-9C>T
|
-
|
- | 3.0 |
|
B | |
| 27487 | chr20 | 9557681 | G | A |
c.1670C>T
|
p.Ser557Phe
|
3.0 |
|
B | ||
| 6668 | chr20 | 9557697 | C | T |
c.1654G>A
|
p.Val552Ile
|
- | 3.0 |
|
B | |
| 24379 | chr20 | 9562875 | T | A |
c.1616+16A>T
|
-
|
3.0 |
|
B | ||
| 23969 | chr20 | 9562918 | G | A |
c.1589C>T
|
p.Ala530Val
|
- | 3.0 |
|
B | |
| 10662 | chr20 | 9562938 | C | T |
c.1569G>A
|
p.Met523Ile
|
- | 3.0 |
|
B | |
| 4374 | chr20 | 9563030 | G | A |
c.1483-6C>T
|
-
|
3.0 |
|
B | ||
| 13645 | chr20 | 9563034 | C | T |
c.1483-10G>A
|
-
|
1.0 |
|
B | ||
| 18615 | chr20 | 9565873 | G | A |
c.1482+20C>T
|
-
|
3.0 |
|
B | ||
| 5974 | chr20 | 9565904 | G | A |
c.1471C>T
|
p.Leu491Phe
|
- | 3.0 |
|
B |