Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3790 | chr2 | 207597049 | ATCAGATTAAT | A |
c.977_*2del
|
p.Ser326LeufsTer29
|
- | 3.0 |
|
B | |
| 2758 | chr2 | 207711925 | C | T |
c.29C>T
|
p.Ser10Phe
|
- | 3.0 |
|
B | |
| 4053 | chr2 | 208163413 | G | A |
-
c.43C>T
|
-
p.Arg15Cys
|
3.0 |
|
B | ||
| 13807 | chr2 | 208239156 | T | C |
c.1069A>G
|
p.Asn357Asp
|
- | 3.0 |
|
B | |
| 34282 | chr2 | 208239235 | T | G |
c.992-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 9759 | chr2 | 208239238 | AAG | A |
c.992-7_992-6del
|
-
|
3.0 |
|
B | ||
| 20209 | chr2 | 208239245 | GA | G |
c.992-13del
|
-
|
2.5 |
|
B | ||
| 8572 | chr2 | 208239874 | G | A |
c.980C>T
|
p.Thr327Ile
|
3.0 |
|
B | ||
| 33388 | chr2 | 208240016 | G | A |
c.851-13C>T
|
-
|
3.0 |
|
B | ||
| 15005 | chr2 | 208241991 | T | C |
c.850+3A>G
|
-
|
3.0 |
|
B | ||
| 32 | chr2 | 208242060 | C | T |
c.784G>A
|
p.Glu262Lys
|
3.0 |
|
B | ||
| 15006 | chr2 | 208243461 | G | A |
c.664C>T
|
p.Arg222Cys
|
3.0 |
|
B | ||
| 31 | chr2 | 208243466 | T | C |
c.659A>G
|
p.Asp220Gly
|
3.0 |
|
B | ||
| 34005 | chr2 | 208243556 | T | C |
c.569A>G
|
p.Glu190Gly
|
- | 3.0 |
|
B | |
| 30 | chr2 | 208243593 | C | T |
c.532G>A
|
p.Val178Ile
|
1.0 |
|
B | ||
| 20919 | chr2 | 208245319 | C | A |
c.520G>T
|
p.Glu174Ter
|
- | 3.0 |
|
B | |
| 10800 | chr2 | 208248349 | T | A |
c.414+20A>T
|
-
|
- | 3.0 |
|
B | |
| 7213 | chr2 | 208248388 | C | A |
c.395G>T
|
p.Arg132Leu
|
3.5 |
|
B | ||
| 27 | chr2 | 208248388 | C | T |
c.395G>A
|
p.Arg132His
|
4.88 |
|
S | ||
| 28 | chr2 | 208248389 | G | A |
c.394C>T
|
p.Arg132Cys
|
4.67 |
|
A |