Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11781 | chr2 | 172556159 | GGC | G |
c.13_14del
|
p.Arg5AlafsTer67
|
- | 3.0 |
|
B | |
| 11782 | chr2 | 172556167 | TGCTTCGCGGAGCCGCCTTGGCCG | T |
c.20_42del
|
p.Leu7ProfsTer58
|
- | 3.0 |
|
B | |
| 28180 | chr2 | 172564522 | C | T |
c.430C>T
|
p.Arg144Trp
|
3.0 |
|
B | ||
| 31656 | chr2 | 172570765 | G | A |
c.886G>A
|
p.Gly296Ser
|
- | 3.0 |
|
B | |
| 2451 | chr2 | 172570815 | G | C |
c.936G>C
|
p.Leu312Phe
|
- | 3.0 |
|
B | |
| 8243 | chr2 | 172595824 | T | C |
c.1171-5T>C
|
-
|
- | 3.0 |
|
B | |
| 21883 | chr2 | 176093057 | GGGC | G |
c.180_182del
|
p.Ala71del
|
2.5 |
|
B | ||
| 11297 | chr2 | 176093454 | G | T |
c.564G>T
|
p.Lys188Asn
|
- | 3.0 |
|
B | |
| 27227 | chr2 | 176093539 | G | A |
c.649G>A
|
p.Glu217Lys
|
3.0 |
|
B | ||
| 31961 | chr2 | 176094510 | G | A |
c.812G>A
|
p.Cys271Tyr
|
3.0 |
|
B | ||
| 17214 | chr2 | 176094705 | C | T |
c.1007C>T
|
p.Ser336Phe
|
- | 3.0 |
|
B | |
| 17025 | chr2 | 176130417 | TGCG | T |
c.68_70del
|
p.Ala23del
|
3.0 |
|
B | ||
| 17448 | chr2 | 176130550 | CCGCACGCGCCCCCGCAGG | C |
c.194_211del
|
p.Pro65_Ala70del
|
2.5 |
|
B | ||
| 3994 | chr2 | 176130551 | C | T |
c.185C>T
|
p.Pro62Leu
|
- | 3.0 |
|
B | |
| 15648 | chr2 | 176130605 | G | A |
c.239G>A
|
p.Gly80Glu
|
- | 3.0 |
|
B | |
| 6389 | chr2 | 176130803 | C | T |
c.437C>T
|
p.Pro146Leu
|
- | 3.0 |
|
B | |
| 19538 | chr2 | 176130954 | AT | A |
c.577+21del
|
-
|
3.0 |
|
B | ||
| 20207 | chr2 | 176131296 | CT | C |
c.578-12del
|
-
|
3.0 |
|
B | ||
| 29211 | chr2 | 176131297 | T | C |
c.578-20T>C
|
-
|
3.0 |
|
B | ||
| 3899 | chr2 | 176131495 | G | A |
c.756G>A
|
p.Trp252Ter
|
- | 3.0 |
|
B |