Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34619 | chr12 | 57106791 | T | C |
c.380A>G
|
p.Glu127Gly
|
- | 3.0 |
|
B | |
| 28761 | chr12 | 57107741 | T | A |
c.119A>T
|
p.Glu40Val
|
- | 3.0 |
|
B | |
| 28645 | chr12 | 57108218 | C | T |
c.61G>A
|
p.Asp21Asn
|
3.0 |
|
B | ||
| 35621 | chr12 | 57456553 | A | T |
-
-
c.758A>T
|
-
-
p.Tyr253Phe
|
- | 3.0 |
|
B | |
| 35622 | chr12 | 57456554 | C | G |
-
-
c.759C>G
|
-
-
p.Tyr253Ter
|
- | 3.0 |
|
B | |
| 7066 | chr12 | 57463749 | C | G |
c.58C>G
|
p.Arg20Gly
|
- | 3.0 |
|
B | |
| 2886 | chr12 | 57464706 | A | T |
c.227A>T
|
p.Lys76Met
|
- | 3.0 |
|
B | |
| 8056 | chr12 | 57464715 | A | C |
c.236A>C
|
p.Lys79Thr
|
- | 3.0 |
|
B | |
| 28557 | chr12 | 57464826 | C | G |
c.347C>G
|
p.Ser116Cys
|
- | 3.0 |
|
B | |
| 9563 | chr12 | 57464862 | C | A |
c.383C>A
|
p.Thr128Asn
|
- | 3.0 |
|
B | |
| 33656 | chr12 | 57465164 | C | T |
c.443C>T
|
p.Ser148Phe
|
- | 3.0 |
|
B | |
| 5786 | chr12 | 57465185 | G | T |
c.464G>T
|
p.Gly155Val
|
- | 3.0 |
|
B | |
| 27165 | chr12 | 57465213 | G | A |
c.492G>A
|
p.Met164Ile
|
- | 3.0 |
|
B | |
| 28762 | chr12 | 57465231 | C | T |
c.510C>T
|
p.Ser170=
|
- | 3.0 |
|
B | |
| 22578 | chr12 | 57465236 | G | A |
c.515G>A
|
p.Gly172Glu
|
3.0 |
|
B | ||
| 27437 | chr12 | 57465665 | A | G |
c.593A>G
|
p.Asp198Gly
|
3.0 |
|
B | ||
| 19720 | chr12 | 57465789 | A | T |
c.626A>T
|
p.Asp209Val
|
3.0 |
|
B | ||
| 20111 | chr12 | 57465791 | C | A |
c.628C>A
|
p.Pro210Thr
|
- | 3.0 |
|
B | |
| 3237 | chr12 | 57466252 | G | A |
c.775G>A
|
p.Glu259Lys
|
3.0 |
|
B | ||
| 17527 | chr12 | 57466291 | TG | T |
c.821del
|
p.Gly274AlafsTer6
|
3.0 |
|
B |