Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6019 | chr2 | 25753625 | C | T |
c.1051G>A
|
p.Glu351Lys
|
- | 3.0 |
|
B | |
| 33050 | chr2 | 25753643 | C | A |
c.1037-4G>T
|
-
|
- | 3.0 |
|
B | |
| 21664 | chr2 | 25756029 | C | G |
c.1025G>C
|
p.Arg342Thr
|
- | 3.0 |
|
B | |
| 11858 | chr2 | 25756034 | C | G |
c.1020G>C
|
p.Lys340Asn
|
- | 3.0 |
|
B | |
| 21209 | chr2 | 25756052 | TG | T |
c.1001del
|
p.Ser334Ter
|
- | 4.0 |
|
B | |
| 34860 | chr2 | 25759478 | G | A |
c.939+4C>T
|
-
|
3.0 |
|
B | ||
| 26442 | chr2 | 25759639 | A | G |
c.782T>C
|
p.Met261Thr
|
- | 3.5 |
|
B | |
| 33090 | chr2 | 25759646 | CTACAAAAACAGAGAAGAATCGT | C |
c.776-23_776-2del
|
p.?
|
- | 4.0 |
|
B | |
| 8713 | chr2 | 25767592 | G | C |
c.766C>G
|
p.Leu256Val
|
- | 3.0 |
|
B | |
| 35576 | chr2 | 25768799 | G | A |
c.574C>T
|
p.Gln192Ter
|
- | 4.0 |
|
B | |
| 33431 | chr2 | 25768865 | G | C |
c.508C>G
|
p.Leu170Val
|
- | 3.0 |
|
B | |
| 10465 | chr2 | 25771525 | G | A |
c.419C>T
|
p.Pro140Leu
|
2.5 |
|
B | ||
| 3915 | chr2 | 25771546 | G | A |
c.404-6C>T
|
-
|
- | 2.5 |
|
B | |
| 19952 | chr2 | 25771547 | A | G |
c.404-7T>C
|
-
|
3.0 |
|
B | ||
| 18218 | chr2 | 25799415 | C | T |
c.373G>A
|
p.Glu125Lys
|
- | 3.0 |
|
B | |
| 30072 | chr2 | 25799441 | C | T |
c.347G>A
|
p.Ser116Asn
|
- | 3.0 |
|
B | |
| 34754 | chr2 | 25845489 | T | A |
c.132A>T
|
p.Lys44Asn
|
- | 3.0 |
|
B | |
| 30570 | chr2 | 25878195 | C | T |
c.28G>A
|
p.Gly10Ser
|
- | 3.0 |
|
B | |
| 34454 | chr2 | 25878220 | C | T |
c.3G>A
|
p.Met1?
|
4.0 |
|
B | ||
| 4047 | chr2 | 26483634 | G | A |
c.1220C>T
|
p.Pro407Leu
|
3.0 |
|
B |