Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5814 | chr2 | 113244550 | A | T |
c.266T>A
|
p.Val89Glu
|
- | 3.0 |
|
B | |
| 13487 | chr2 | 113244550 | ACCACCTTGGGGGTGG | A |
c.251_265del
|
p.Ala84_Val88del
|
- | 3.0 |
|
B | |
| 5815 | chr2 | 113244551 | C | T |
c.265G>A
|
p.Val89Met
|
- | 3.0 |
|
B | |
| 26920 | chr2 | 113246745 | C | T |
c.191+9G>A
|
-
|
3.0 |
|
B | ||
| 1680 | chr2 | 113246768 | G | T |
c.177C>A
|
p.Ser59Arg
|
- | 3.0 |
|
B | |
| 11602 | chr2 | 113246845 | T | C |
c.100A>G
|
p.Ile34Val
|
3.0 |
|
B | ||
| 9216 | chr2 | 113742699 | CA | C |
c.742del
|
p.Cys248AlafsTer22
|
3.0 |
|
B | ||
| 3382 | chr2 | 119601278 | G | A |
c.692G>A
|
p.Gly231Glu
|
- | 3.0 |
|
B | |
| 2840 | chr2 | 120797313 | C | T |
c.-8C>T
|
-
|
2.5 |
|
B | ||
| 32678 | chr2 | 120867739 | G | T |
c.149-59622G>T
|
-
|
- | 3.0 |
|
B | |
| 21179 | chr2 | 120927470 | A | G |
c.254+4A>G
|
-
|
- | 3.0 |
|
B | |
| 27457 | chr2 | 120951301 | C | T |
c.313C>T
|
p.Pro105Ser
|
3.0 |
|
B | ||
| 2545 | chr2 | 120951446 | G | C |
c.457+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 29518 | chr2 | 120955265 | G | T |
c.478G>T
|
p.Glu160Ter
|
- | 3.0 |
|
B | |
| 9656 | chr2 | 120955307 | T | G |
c.520T>G
|
p.Ser174Ala
|
- | 3.0 |
|
B | |
| 16549 | chr2 | 120955389 | C | G |
c.602C>G
|
p.Ala201Gly
|
- | 3.0 |
|
B | |
| 29106 | chr2 | 120955445 | C | CAT |
c.643+15_643+16insAT
|
-
|
- | 3.0 |
|
B | |
| 29107 | chr2 | 120955446 | CAGGGG | C |
c.643+17_643+21del
|
-
|
- | 3.0 |
|
B | |
| 30304 | chr2 | 120968747 | G | A |
c.677G>A
|
p.Arg226His
|
3.0 |
|
B | ||
| 18438 | chr2 | 120968890 | G | A |
c.820G>A
|
p.Gly274Arg
|
- | 3.0 |
|
B |