Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33512 | chr12 | 112488465 | A | C |
c.1402A>C
|
p.Thr468Pro
|
4.5 |
|
B | ||
| 11582 | chr12 | 112488499 | T | C |
c.1436T>C
|
p.Ile479Thr
|
3.0 |
|
B | ||
| 17340 | chr12 | 112488517 | C | T |
c.1447+7C>T
|
-
|
3.0 |
|
B | ||
| 15734 | chr12 | 112489019 | C | T |
c.1448-5C>T
|
-
|
3.0 |
|
B | ||
| 6335 | chr12 | 112489040 | T | G |
c.1464T>G
|
p.Ile488Met
|
- | 3.0 |
|
B | |
| 19088 | chr12 | 112489068 | C | T |
c.1492C>T
|
p.Arg498Trp
|
4.5 |
|
B | ||
| 16176 | chr12 | 112489080 | T | C |
c.1504T>C
|
p.Ser502Pro
|
- | 4.0 |
|
B | |
| 1927 | chr12 | 112489084 | G | T |
c.1508G>T
|
p.Gly503Val
|
4.0 |
|
B | ||
| 18792 | chr12 | 112489092 | C | T |
c.1516C>T
|
p.Gln506Ter
|
3.0 |
|
B | ||
| 499 | chr12 | 112489105 | A | T |
c.1529A>T
|
p.Gln510Leu
|
- | 4.0 |
|
B | |
| 8316 | chr12 | 112489106 | G | C |
c.1530G>C
|
p.Gln510His
|
4.0 |
|
B | ||
| 8246 | chr12 | 112489106 | G | T |
c.1530G>T
|
p.Gln510His
|
- | 4.0 |
|
B | |
| 13166 | chr12 | 112502172 | C | T |
c.1628C>T
|
p.Thr543Ile
|
3.0 |
|
B | ||
| 17500 | chr12 | 112502202 | C | G |
c.1658C>G
|
p.Thr553Arg
|
- | 3.0 |
|
B | |
| 32044 | chr12 | 112504326 | G | T |
c.1713-369G>T
|
-
|
- | 3.0 |
|
B | |
| 29852 | chr12 | 112504687 | C | T |
c.1713-8C>T
|
-
|
- | 3.0 |
|
B | |
| 12571 | chr12 | 112504689 | C | G |
c.1713-6C>G
|
-
|
- | 3.0 |
|
B | |
| 5803 | chr12 | 112504751 | A | G |
c.1769A>G
|
p.Lys590Arg
|
- | 3.0 |
|
B | |
| 4364 | chr12 | 113306490 | G | A |
c.1492+5C>T
|
-
|
- | 3.0 |
|
B | |
| 5080 | chr12 | 114672092 | G | T |
c.1921C>A
|
p.Pro641Thr
|
- | 3.0 |
|
B |