Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7476 | chr2 | 141055149 | A | C |
c.1519T>G
|
p.Phe507Val
|
- | 3.0 |
|
B | |
| 7512 | chr2 | 141055173 | G | A |
c.1495C>T
|
p.Arg499Trp
|
3.0 |
|
B | ||
| 29151 | chr2 | 141055208 | G | T |
c.1460C>A
|
p.Ser487Ter
|
- | 4.0 |
|
B | |
| 19388 | chr2 | 141055213 | G | GC |
c.1454dup
|
p.Cys486LeufsTer27
|
- | 4.0 |
|
B | |
| 11750 | chr2 | 141055214 | C | A |
c.1454G>T
|
p.Gly485Val
|
- | 3.0 |
|
B | |
| 12045 | chr2 | 141058876 | C | A |
c.1408+7G>T
|
-
|
3.0 |
|
B | ||
| 18716 | chr2 | 141058885 | G | A |
c.1406C>T
|
p.Thr469Ile
|
- | 3.0 |
|
B | |
| 135 | chr2 | 141058898 | T | A |
c.1393A>T
|
p.Arg465Ter
|
- | 4.33 |
|
A | |
| 28799 | chr2 | 141058904 | G | A |
c.1387C>T
|
p.Gln463Ter
|
4.0 |
|
B | ||
| 16571 | chr2 | 141058945 | G | A |
c.1346C>T
|
p.Ser449Leu
|
- | 3.0 |
|
B | |
| 33770 | chr2 | 141058988 | T | A |
c.1303A>T
|
p.Asn435Tyr
|
- | 3.0 |
|
B | |
| 3144 | chr2 | 141062085 | C | T |
c.1202G>A
|
p.Gly401Glu
|
3.0 |
|
B | ||
| 5651 | chr2 | 141062113 | C | A |
c.1174G>T
|
p.Asp392Tyr
|
3.0 |
|
B | ||
| 10853 | chr2 | 141062161 | C | A |
c.1126G>T
|
p.Ala376Ser
|
- | 3.0 |
|
B | |
| 32488 | chr2 | 141062175 | T | G |
c.1112A>C
|
p.Gln371Pro
|
- | 3.0 |
|
B | |
| 34237 | chr2 | 141188439 | G | A |
c.995C>T
|
p.Ala332Val
|
- | 3.0 |
|
B | |
| 23714 | chr2 | 141188550 | C | T |
c.884G>A
|
p.Arg295Gln
|
3.0 |
|
B | ||
| 7347 | chr2 | 141188569 | C | G |
c.865G>C
|
p.Ala289Pro
|
- | 3.0 |
|
B | |
| 12801 | chr2 | 141188586 | G | A |
c.851-3C>T
|
-
|
- | 3.0 |
|
B | |
| 13179 | chr2 | 141229308 | TAAATAAAATCCAGAGTA | T |
c.708_724del
|
p.His236GlnfsTer2
|
- | 4.0 |
|
B |