Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6684 | chr17 | 7676250 | ATT | A |
c.117_118del
|
p.Met40GlyfsTer2
|
- | 4.0 |
|
B | |
| 24733 | chr17 | 7676262 | G | A |
c.107C>T
|
p.Pro36Leu
|
2.5 |
|
B | ||
| 8959 | chr17 | 7676271 | G | GA |
c.97dup
|
p.Ser33PhefsTer10
|
4.5 |
|
B | ||
| 29728 | chr17 | 7676273 | C | A |
c.97-1G>T
|
p.?
|
4.5 |
|
B | ||
| 11466 | chr17 | 7676273 | C | T |
c.97-1G>A
|
p.?
|
5.0 |
|
B | ||
| 8373 | chr17 | 7676274 | T | A |
c.97-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 915 | chr17 | 7676379 | T | TTG |
c.96+2_96+3insCA
|
-
|
- | 3.5 |
|
B | |
| 11789 | chr17 | 7676380 | A | C |
c.96+2T>G
|
p.?
|
- | 3.5 |
|
B | |
| 34386 | chr17 | 7676381 | C | A |
c.96+1G>T
|
p.?
|
4.5 |
|
B | ||
| 850 | chr17 | 7676381 | C | T |
c.96+1G>A
|
p.?
|
4.0 |
|
B | ||
| 20623 | chr17 | 7676384 | GA | G |
c.93del
|
p.Leu32CysfsTer12
|
- | 5.0 |
|
B | |
| 17509 | chr17 | 7676394 | TTCAGGAAG | T |
c.76_83del
|
p.Leu26LysfsTer14
|
- | 4.0 |
|
B | |
| 23618 | chr17 | 7676397 | AG | A |
c.80del
|
p.Pro27LeufsTer17
|
4.5 |
|
B | ||
| 1553 | chr17 | 7676398 | G | A |
c.80C>T
|
p.Pro27Leu
|
3.0 |
|
B | ||
| 9169 | chr17 | 7676404 | C | A |
c.75-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 17729 | chr17 | 7676536 | G | C |
c.59C>G
|
p.Ser20Ter
|
- | 4.5 |
|
B | |
| 7154 | chr17 | 7676536 | GA | G |
c.58del
|
p.Ser20GlnfsTer24
|
4.5 |
|
B | ||
| 8816 | chr17 | 7676542 | GT | G |
c.52del
|
p.Thr18HisfsTer26
|
4.5 |
|
B | ||
| 35355 | chr17 | 7676564 | C | T |
c.31G>A
|
p.Glu11Lys
|
2.5 |
|
B | ||
| 14785 | chr17 | 7884965 | G | T |
-
|
-
|
3.0 |
|
B |