Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35107 | chr2 | 178590439 | T | C |
c.61286A>G
|
p.Gln20429Arg
|
- | 3.0 |
|
B | |
| 13416 | chr2 | 178590569 | C | T |
c.61156G>A
|
p.Glu20386Lys
|
3.0 |
|
B | ||
| 25343 | chr2 | 178590618 | G | C |
c.61107C>G
|
p.Ile20369Met
|
- | 3.0 |
|
B | |
| 12114 | chr2 | 178590626 | G | A |
c.61099C>T
|
p.Arg20367Trp
|
2.5 |
|
B | ||
| 12259 | chr2 | 178590671 | C | T |
c.61054G>A
|
p.Gly20352Arg
|
3.0 |
|
B | ||
| 29606 | chr2 | 178590713 | C | T |
c.61012G>A
|
p.Gly20338Arg
|
3.0 |
|
B | ||
| 9826 | chr2 | 178591072 | G | A |
c.60653C>T
|
p.Thr20218Met
|
3.0 |
|
B | ||
| 18554 | chr2 | 178591178 | C | T |
c.60547G>A
|
p.Asp20183Asn
|
- | 3.0 |
|
B | |
| 13161 | chr2 | 178591493 | C | T |
c.60232G>A
|
p.Val20078Met
|
1.5 |
|
B | ||
| 27855 | chr2 | 178591498 | G | A |
c.60227C>T
|
p.Pro20076Leu
|
- | 3.0 |
|
B | |
| 17223 | chr2 | 178591520 | G | A |
c.60221-16C>T
|
-
|
- | 3.0 |
|
B | |
| 25360 | chr2 | 178591820 | T | C |
c.59999A>G
|
p.Lys20000Arg
|
- | 3.0 |
|
B | |
| 32643 | chr2 | 178592029 | G | A |
c.59875C>T
|
p.Arg19959Cys
|
2.5 |
|
B | ||
| 17664 | chr2 | 178592374 | C | CT |
c.59626+4dup
|
-
|
- | 3.0 |
|
B | |
| 20799 | chr2 | 178592434 | T | G |
c.59571A>C
|
p.Leu19857Phe
|
- | 3.0 |
|
B | |
| 21146 | chr2 | 178592472 | G | A |
c.59533C>T
|
p.Arg19845Cys
|
2.5 |
|
B | ||
| 13417 | chr2 | 178592871 | C | T |
c.59248G>A
|
p.Gly19750Ser
|
2.0 |
|
B | ||
| 27344 | chr2 | 178592880 | G | C |
c.59239C>G
|
p.Leu19747Val
|
- | 3.0 |
|
B | |
| 27799 | chr2 | 178593239 | C | T |
c.58969G>A
|
p.Glu19657Lys
|
- | 3.0 |
|
B | |
| 20784 | chr2 | 178593248 | C | T |
c.58960G>A
|
p.Val19654Ile
|
- | 3.0 |
|
B |