Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24942 | chr10 | 49516240 | C | T |
c.1397+7793G>A
|
-
|
3.0 |
|
B | ||
| 26881 | chr10 | 49516283 | C | G |
c.1397+7750G>C
|
-
|
- | 3.0 |
|
B | |
| 22229 | chr10 | 49516519 | C | T |
c.1397+7514G>A
|
-
|
3.0 |
|
B | ||
| 15441 | chr10 | 49516763 | C | A |
c.1397+7270G>T
|
-
|
- | 3.0 |
|
B | |
| 15440 | chr10 | 49516769 | T | C |
c.1397+7264A>G
|
-
|
- | 3.0 |
|
B | |
| 17497 | chr10 | 49516813 | G | A |
c.1397+7220C>T
|
-
|
- | 3.0 |
|
B | |
| 7430 | chr10 | 49524513 | G | A |
c.917C>T
|
p.Ala306Val
|
- | 3.0 |
|
B | |
| 8034 | chr10 | 49524580 | C | A |
c.850G>T
|
p.Glu284Ter
|
- | 3.0 |
|
B | |
| 16774 | chr10 | 49524652 | G | A |
c.778C>T
|
p.Pro260Ser
|
- | 3.0 |
|
B | |
| 13948 | chr10 | 49524698 | C | A |
c.732G>T
|
p.Gln244His
|
- | 3.0 |
|
B | |
| 31778 | chr10 | 49528408 | C | A |
c.652+9G>T
|
-
|
2.0 |
|
B | ||
| 21321 | chr10 | 49528411 | C | A |
c.652+6G>T
|
-
|
- | 3.0 |
|
B | |
| 7975 | chr10 | 49530812 | T | A |
c.451A>T
|
p.Asn151Tyr
|
- | 3.0 |
|
B | |
| 7787 | chr10 | 49532581 | G | T |
c.384C>A
|
p.Asp128Glu
|
- | 3.0 |
|
B | |
| 17644 | chr10 | 49532618 | G | C |
c.347C>G
|
p.Ala116Gly
|
- | 3.0 |
|
B | |
| 9713 | chr10 | 49532621 | T | C |
c.344A>G
|
p.Asn115Ser
|
2.5 |
|
B | ||
| 24716 | chr10 | 49532760 | C | A |
c.205G>T
|
p.Gly69Trp
|
- | 3.0 |
|
B | |
| 6714 | chr10 | 49532885 | T | A |
c.80A>T
|
p.Glu27Val
|
- | 3.0 |
|
B | |
| 34511 | chr10 | 49756888 | G | A |
c.263C>T
|
p.Pro88Leu
|
- | 3.0 |
|
B | |
| 3436 | chr10 | 53827499 | C | T |
c.4261G>A
|
p.Ala1421Thr
|
- | 3.0 |
|
B |