Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12525 | chr10 | 87925562 | G | C |
c.209+5G>C
|
-
|
3.5 |
|
B | ||
| 32434 | chr10 | 87925562 | G | T |
c.209+5G>T
|
-
|
- | 3.5 |
|
B | |
| 5621 | chr10 | 87931033 | A | G |
c.210-13A>G
|
-
|
- | 2.5 |
|
B | |
| 12389 | chr10 | 87931044 | A | T |
c.210-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 1131 | chr10 | 87931045 | G | A |
c.210-1G>A
|
p.?
|
4.0 |
|
B | ||
| 3834 | chr10 | 87931045 | G | C |
c.210-1G>C
|
p.?
|
4.0 |
|
B | ||
| 29324 | chr10 | 87931049 | T | G |
c.213T>G
|
p.Cys71Trp
|
3.0 |
|
B | ||
| 2018 | chr10 | 87931061 | TTA | T |
c.227_228del
|
p.Tyr76Ter
|
- | 4.0 |
|
B | |
| 35454 | chr10 | 87931068 | AC | A |
c.234del
|
p.Ala79ProfsTer20
|
- | 4.0 |
|
B | |
| 23118 | chr10 | 87931079 | TAATTGCAGAGGTAGGTATGAATGTACTGTAC | T |
c.244_253+21del
|
p.?
|
- | 4.0 |
|
B | |
| 18874 | chr10 | 87931086 | AG | A |
c.251del
|
p.Arg84LysfsTer15
|
- | 4.0 |
|
B | |
| 14018 | chr10 | 87931089 | G | T |
c.253G>T
|
p.Val85Phe
|
- | 3.0 |
|
B | |
| 376 | chr10 | 87931094 | G | A |
c.253+5G>A
|
-
|
4.33 |
|
A | ||
| 18830 | chr10 | 87933007 | C | T |
c.254-6C>T
|
-
|
2.0 |
|
B | ||
| 20855 | chr10 | 87933011 | A | G |
c.254-2A>G
|
p.?
|
4.0 |
|
B | ||
| 8122 | chr10 | 87933012 | G | A |
c.254-1G>A
|
p.?
|
4.0 |
|
B | ||
| 11967 | chr10 | 87933033 | G | T |
c.274G>T
|
p.Asp92Tyr
|
3.5 |
|
B | ||
| 33444 | chr10 | 87933035 | C | A |
c.276C>A
|
p.Asp92Glu
|
3.0 |
|
B | ||
| 377 | chr10 | 87933036 | C | T |
c.277C>T
|
p.His93Tyr
|
4.33 |
|
A | ||
| 32735 | chr10 | 87933038 | T | A |
c.279T>A
|
p.His93Gln
|
3.5 |
|
B |