Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23800 | chr2 | 211424268 | C | T |
c.2753G>A
|
p.Gly918Glu
|
3.0 |
|
B | ||
| 34858 | chr2 | 211428388 | C | T |
c.2719+20G>A
|
-
|
2.0 |
|
B | ||
| 9550 | chr2 | 211428420 | C | A |
c.2707G>T
|
p.Val903Phe
|
- | 3.0 |
|
B | |
| 2660 | chr2 | 211431027 | G | T |
c.2561C>A
|
p.Pro854Gln
|
- | 3.0 |
|
B | |
| 1462 | chr2 | 211431049 | G | A |
c.2539C>T
|
p.Arg847Cys
|
3.5 |
|
B | ||
| 7734 | chr2 | 211431049 | G | T |
c.2539C>A
|
p.Arg847Ser
|
- | 3.0 |
|
B | |
| 2720 | chr2 | 211561943 | C | T |
c.2447G>A
|
p.Gly816Glu
|
- | 3.0 |
|
B | |
| 21842 | chr2 | 211561962 | C | A |
c.2428G>T
|
p.Glu810Ter
|
- | 3.0 |
|
B | |
| 31007 | chr2 | 211561962 | C | T |
c.2428G>A
|
p.Glu810Lys
|
3.0 |
|
B | ||
| 33982 | chr2 | 211561968 | C | G |
c.2422G>C
|
p.Val808Leu
|
- | 3.0 |
|
B | |
| 1903 | chr2 | 211561997 | A | C |
c.2393T>G
|
p.Leu798Arg
|
- | 3.5 |
|
B | |
| 6351 | chr2 | 211562006 | A | C |
c.2384T>G
|
p.Val795Gly
|
- | 3.0 |
|
B | |
| 6025 | chr2 | 211562019 | T | G |
c.2371A>C
|
p.Thr791Pro
|
- | 3.0 |
|
B | |
| 5686 | chr2 | 211562027 | A | G |
c.2363T>C
|
p.Leu788Pro
|
- | 3.0 |
|
B | |
| 18076 | chr2 | 211562073 | C | T |
c.2317G>A
|
p.Ala773Thr
|
3.0 |
|
B | ||
| 10070 | chr2 | 211619196 | G | A |
c.2282C>T
|
p.Ala761Val
|
- | 3.0 |
|
B | |
| 12125 | chr2 | 211619275 | C | A |
c.2203G>T
|
p.Gly735Cys
|
3.0 |
|
B | ||
| 17471 | chr2 | 211619291 | T | A |
c.2203-16A>T
|
-
|
3.0 |
|
B | ||
| 25711 | chr2 | 211619291 | T | G |
c.2203-16A>C
|
-
|
- | 3.0 |
|
B | |
| 28881 | chr2 | 211623932 | G | A |
c.2192C>T
|
p.Thr731Met
|
3.0 |
|
B |