Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10580 | chr3 | 48586192 | C | T |
c.3605G>A
|
p.Arg1202His
|
2.0 |
|
B | ||
| 10174 | chr3 | 48586193 | G | A |
c.3604C>T
|
p.Arg1202Cys
|
3.0 |
|
B | ||
| 7850 | chr3 | 48586236 | CACATTA | C |
c.3555_3560del
|
p.Asn1186_Val1187del
|
- | 3.0 |
|
B | |
| 10673 | chr3 | 48586547 | C | T |
c.3403+16G>A
|
-
|
- | 2.5 |
|
B | |
| 18290 | chr3 | 48586702 | G | A |
c.3277-13C>T
|
-
|
3.0 |
|
B | ||
| 10846 | chr3 | 48586954 | G | A |
c.3276+18C>T
|
-
|
3.0 |
|
B | ||
| 34109 | chr3 | 48587015 | C | T |
c.3233G>A
|
p.Arg1078His
|
2.5 |
|
B | ||
| 14593 | chr3 | 48587118 | G | A |
c.3140-10C>T
|
-
|
2.0 |
|
B | ||
| 11570 | chr3 | 48587178 | C | T |
c.3139+12G>A
|
-
|
1.0 |
|
B | ||
| 12599 | chr3 | 48587449 | G | A |
c.2963C>T
|
p.Ser988Phe
|
- | 3.0 |
|
B | |
| 10175 | chr3 | 48588287 | G | A |
c.2705C>T
|
p.Pro902Leu
|
3.0 |
|
B | ||
| 14428 | chr3 | 48588318 | T | C |
c.2674A>G
|
p.Arg892Gly
|
- | 3.0 |
|
B | |
| 23354 | chr3 | 48588420 | A | C |
c.2588-16T>G
|
-
|
- | 3.0 |
|
B | |
| 14870 | chr3 | 48588860 | G | A |
c.2440+10C>T
|
-
|
- | 3.0 |
|
B | |
| 18291 | chr3 | 48588947 | G | A |
c.2363C>T
|
p.Ser788Phe
|
- | 3.0 |
|
B | |
| 32250 | chr3 | 48589000 | G | A |
c.2315-5C>T
|
-
|
3.0 |
|
B | ||
| 16925 | chr3 | 48589474 | G | A |
c.2171-4C>T
|
-
|
- | 3.0 |
|
B | |
| 32532 | chr3 | 48590441 | C | A |
c.1906+18G>T
|
-
|
3.0 |
|
B | ||
| 27512 | chr3 | 48590573 | G | A |
c.1792C>T
|
p.Pro598Ser
|
- | 3.0 |
|
B | |
| 35005 | chr3 | 48590579 | C | T |
c.1786G>A
|
p.Glu596Lys
|
- | 3.0 |
|
B |