Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21908 | chr2 | 26793123 | CTT | C |
c.289-18_289-17del
|
-
|
- | 3.0 |
|
B | |
| 12480 | chr2 | 26793248 | G | A |
c.392G>A
|
p.Arg131Lys
|
- | 3.0 |
|
B | |
| 17757 | chr2 | 27217859 | C | T |
c.83-18C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 26458 | chr2 | 27217970 | A | G |
c.176A>G
-
|
p.Asn59Ser
-
|
3.0 |
|
B | ||
| 17205 | chr2 | 27218010 | C | T |
c.216C>T
-
|
p.Leu72=
-
|
- | 3.0 |
|
B | |
| 27240 | chr2 | 27221279 | C | T |
c.284C>T
-
|
p.Pro95Leu
-
|
- | 3.0 |
|
B | |
| 7683 | chr2 | 27221282 | G | A |
c.287G>A
-
|
p.Ser96Asn
-
|
- | 3.0 |
|
B | |
| 13013 | chr2 | 27221341 | T | A |
c.346T>A
-
|
p.Leu116Met
-
|
- | 3.0 |
|
B | |
| 14587 | chr2 | 27222853 | C | T |
c.638-13C>T
|
-
|
2.5 |
|
B | ||
| 2424 | chr2 | 27223573 | C | T |
c.820C>T
|
p.Arg274Ter
|
3.0 |
|
B | ||
| 31960 | chr2 | 27223927 | C | T |
c.1006C>T
|
p.His336Tyr
|
- | 3.0 |
|
B | |
| 7656 | chr2 | 27226559 | G | A |
c.2066G>A
|
p.Arg689His
|
3.0 |
|
B | ||
| 23890 | chr2 | 27232077 | A | C |
c.2498A>C
|
p.Asp833Ala
|
- | 3.0 |
|
B | |
| 22523 | chr2 | 27232115 | C | T |
c.2536C>T
|
p.His846Tyr
|
3.0 |
|
B | ||
| 6565 | chr2 | 27232130 | G | C |
c.2551G>C
|
p.Glu851Gln
|
- | 3.0 |
|
B | |
| 2204 | chr2 | 27232215 | C | T |
c.2636C>T
|
p.Ala879Val
|
3.0 |
|
B | ||
| 26056 | chr2 | 27232244 | G | A |
c.2645+20G>A
|
-
|
3.0 |
|
B | ||
| 33555 | chr2 | 27232431 | C | G |
c.2646-17C>G
|
-
|
- | 3.0 |
|
B | |
| 6644 | chr2 | 27232614 | C | T |
c.2812C>T
|
p.Leu938Phe
|
- | 3.0 |
|
B | |
| 9194 | chr2 | 27232650 | G | A |
c.2848G>A
|
p.Glu950Lys
|
- | 3.0 |
|
B |