Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34559 | chr2 | 127288810 | C | T |
c.877G>A
|
p.Ala293Thr
|
3.5 |
|
B | ||
| 10303 | chr2 | 127288868 | G | A |
c.823-4C>T
|
-
|
- | 3.5 |
|
B | |
| 32615 | chr2 | 127289367 | CTCT | C |
c.789_791del
|
p.Glu264del
|
3.0 |
|
B | ||
| 5778 | chr2 | 127289739 | C | T |
c.607G>A
|
p.Glu203Lys
|
- | 3.0 |
|
B | |
| 6524 | chr2 | 127293542 | C | G |
c.205G>C
|
p.Asp69His
|
- | 3.0 |
|
B | |
| 6602 | chr2 | 127293564 | G | T |
c.183C>A
|
p.Tyr61Ter
|
- | 4.0 |
|
B | |
| 20204 | chr2 | 127293939 | C | T |
c.28+115G>A
-
|
-
-
|
3.0 |
|
B | ||
| 5258 | chr2 | 127631696 | C | T |
c.5192C>T
|
p.Ala1731Val
|
3.0 |
|
B | ||
| 1853 | chr2 | 129982139 | CT | C |
c.*1272del
|
-
|
1.5 |
|
B | ||
| 11204 | chr2 | 130194480 | G | C |
c.376-14C>G
-
|
-
-
|
1.0 |
|
B | ||
| 15258 | chr2 | 130657072 | C | A |
c.2312C>A
|
p.Ala771Asp
|
- | 3.0 |
|
B | |
| 4241 | chr2 | 136115977 | A | AC |
c.16-66_16-65insG
|
-
|
- | 3.0 |
|
B | |
| 32074 | chr2 | 136116732 | C | T |
c.16-820G>A
|
-
|
3.0 |
|
B | ||
| 20282 | chr2 | 137964372 | ATTTT | A |
-
|
-
|
3.0 |
|
B | ||
| 20205 | chr2 | 137964372 | ATTTTT | A |
-
|
-
|
3.0 |
|
B | ||
| 5059 | chr2 | 140233256 | C | T |
c.13730G>A
|
p.Gly4577Glu
|
- | 3.0 |
|
B | |
| 10820 | chr2 | 140233313 | G | A |
c.13673C>T
|
p.Ser4558Phe
|
3.0 |
|
B | ||
| 10598 | chr2 | 140233332 | G | A |
c.13660-6C>T
|
-
|
- | 3.0 |
|
B | |
| 11541 | chr2 | 140234799 | G | T |
c.13646C>A
|
p.Pro4549Gln
|
3.0 |
|
B | ||
| 7801 | chr2 | 140234812 | C | T |
c.13633G>A
|
p.Asp4545Asn
|
- | 3.0 |
|
B |