Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13709 | chr2 | 21035728 | C | T |
c.694-20G>A
|
-
|
2.0 |
|
B | ||
| 20547 | chr2 | 21037122 | G | A |
c.671C>T
|
p.Pro224Leu
|
- | 3.0 |
|
B | |
| 12397 | chr2 | 21041072 | CTCCAGCTCAACCTGAGAAT | C |
c.238-8_248del
|
p.?
|
- | 3.0 |
|
B | |
| 13270 | chr2 | 21042439 | T | C |
c.159A>G
|
p.Thr53=
|
2.0 |
|
B | ||
| 31348 | chr2 | 21043888 | G | T |
c.58C>A
|
p.Leu20Met
|
- | 3.0 |
|
B | |
| 2610 | chr2 | 23863538 | C | A |
c.1322G>T
|
p.Gly441Val
|
- | 3.0 |
|
B | |
| 29971 | chr2 | 25236933 | G | A |
c.2478+3C>T
|
-
|
- | 3.0 |
|
B | |
| 21748 | chr2 | 25239140 | C | T |
c.2398G>A
|
p.Gly800Ser
|
3.0 |
|
B | ||
| 30446 | chr2 | 25239143 | G | C |
c.2395C>G
|
p.Pro799Ala
|
3.5 |
|
B | ||
| 6001 | chr2 | 25240345 | G | A |
c.2279C>T
|
p.Ala760Val
|
3.0 |
|
B | ||
| 12105 | chr2 | 25240402 | G | A |
c.2222C>T
|
p.Ala741Val
|
3.0 |
|
B | ||
| 6309 | chr2 | 25240420 | T | C |
c.2204A>G
|
p.Tyr735Cys
|
3.0 |
|
B | ||
| 11943 | chr2 | 25240438 | C | T |
c.2186G>A
|
p.Arg729Gln
|
3.0 |
|
B | ||
| 31499 | chr2 | 25241594 | C | A |
c.2050G>T
|
p.Val684Phe
|
3.0 |
|
B | ||
| 10281 | chr2 | 25243901 | T | C |
c.1933A>G
|
p.Thr645Ala
|
- | 3.0 |
|
B | |
| 3199 | chr2 | 25244190 | G | A |
c.1816C>T
|
p.Gln606Ter
|
4.0 |
|
B | ||
| 25356 | chr2 | 25244274 | C | T |
c.1732G>A
|
p.Glu578Lys
|
- | 3.0 |
|
B | |
| 32951 | chr2 | 25244607 | G | A |
c.1600C>T
|
p.Gln534Ter
|
4.0 |
|
B | ||
| 13874 | chr2 | 25244647 | G | T |
c.1560C>A
|
p.Cys520Ter
|
3.5 |
|
B | ||
| 27739 | chr2 | 25245351 | G | A |
c.1475-19C>T
|
-
|
2.5 |
|
B |