Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34951 | chr20 | 32788947 | T | A |
c.748T>A
|
p.Ser250Thr
|
- | 3.0 |
|
B | |
| 4470 | chr20 | 32788971 | A | T |
c.772A>T
|
p.Met258Leu
|
- | 3.0 |
|
B | |
| 35253 | chr20 | 32791588 | C | A |
c.814-13C>A
|
-
|
- | 3.0 |
|
B | |
| 30886 | chr20 | 32795408 | G | A |
c.1127-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 16630 | chr20 | 32795451 | C | T |
c.1169C>T
|
p.Ser390Phe
|
- | 3.0 |
|
B | |
| 11794 | chr20 | 32797263 | G | A |
c.1454G>A
|
p.Arg485Gln
|
3.5 |
|
B | ||
| 3019 | chr20 | 32797266 | A | G |
c.1457A>G
|
p.Glu486Gly
|
- | 3.0 |
|
B | |
| 22968 | chr20 | 32798443 | C | T |
c.1491-17C>T
|
-
|
- | 3.0 |
|
B | |
| 11437 | chr20 | 32798494 | G | A |
c.1525G>A
|
p.Gly509Ser
|
3.5 |
|
B | ||
| 776 | chr20 | 32798547 | G | A |
c.1578G>A
|
p.Met526Ile
|
3.0 |
|
B | ||
| 2060 | chr20 | 32798555 | C | T |
c.1586C>T
|
p.Pro529Leu
|
3.0 |
|
B | ||
| 1352 | chr20 | 32798585 | G | A |
c.1616G>A
|
p.Arg539Gln
|
3.0 |
|
B | ||
| 8728 | chr20 | 32799255 | G | T |
c.1686G>T
|
p.Lys562Asn
|
- | 3.0 |
|
B | |
| 3070 | chr20 | 32799289 | C | A |
c.1720C>A
|
p.Pro574Thr
|
- | 3.0 |
|
B | |
| 30205 | chr20 | 32800149 | A | T |
c.1760-4A>T
|
-
|
- | 3.0 |
|
B | |
| 11248 | chr20 | 32800848 | G | T |
c.1919G>T
|
p.Gly640Val
|
- | 3.0 |
|
B | |
| 7092 | chr20 | 32801289 | C | T |
c.2008C>T
|
p.Arg670Trp
|
3.0 |
|
B | ||
| 6882 | chr20 | 32801383 | C | A |
c.2102C>A
|
p.Ala701Asp
|
- | 3.0 |
|
B | |
| 3936 | chr20 | 32802460 | G | T |
c.2221G>T
|
p.Gly741Trp
|
- | 3.0 |
|
B | |
| 10590 | chr20 | 32805359 | T | A |
c.2253T>A
|
p.Asn751Lys
|
- | 3.0 |
|
B |