Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9252 | chr3 | 89407270 | T | A |
c.1596T>A
|
p.Ser532=
|
- | 3.0 |
|
B | |
| 6472 | chr3 | 89407275 | C | A |
c.1601C>A
|
p.Ser534Tyr
|
- | 3.0 |
|
B | |
| 9416 | chr3 | 89407310 | G | A |
c.1636G>A
|
p.Ala546Thr
|
3.0 |
|
B | ||
| 17054 | chr3 | 89407320 | C | T |
c.1646C>T
|
p.Ala549Val
|
3.0 |
|
B | ||
| 30223 | chr3 | 89408061 | C | T |
c.1698-6C>T
|
-
|
- | 3.0 |
|
B | |
| 27941 | chr3 | 89408095 | G | T |
c.1726G>T
|
p.Ala576Ser
|
- | 3.0 |
|
B | |
| 18082 | chr3 | 89419207 | G | A |
c.1891G>A
|
p.Glu631Lys
|
3.0 |
|
B | ||
| 8863 | chr3 | 89419211 | T | G |
c.1895T>G
|
p.Phe632Cys
|
- | 3.0 |
|
B | |
| 8749 | chr3 | 89419283 | A | C |
c.1967A>C
|
p.Lys656Thr
|
- | 3.0 |
|
B | |
| 32760 | chr3 | 89419359 | T | A |
c.2043T>A
|
p.Asn681Lys
|
- | 3.0 |
|
B | |
| 521 | chr3 | 89419391 | G | C |
c.2074+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 10824 | chr3 | 89429121 | T | G |
c.2090T>G
|
p.Ile697Ser
|
- | 3.0 |
|
B | |
| 12807 | chr3 | 89429137 | G | A |
c.2106G>A
|
p.Met702Ile
|
- | 3.0 |
|
B | |
| 21183 | chr3 | 89431247 | G | A |
c.2234G>A
|
p.Arg745Gln
|
3.0 |
|
B | ||
| 7780 | chr3 | 89431318 | C | T |
c.2305C>T
|
p.Arg769Cys
|
3.0 |
|
B | ||
| 27219 | chr3 | 89431372 | G | A |
c.2346+13G>A
|
-
|
3.0 |
|
B | ||
| 17256 | chr3 | 89449209 | G | A |
c.2347-16G>A
|
-
|
3.0 |
|
B | ||
| 2488 | chr3 | 89449326 | G | C |
c.2448G>C
|
p.Glu816Asp
|
- | 3.0 |
|
B | |
| 11966 | chr3 | 89449377 | A | T |
c.2496+3A>T
|
-
|
- | 3.0 |
|
B | |
| 11409 | chr3 | 89450298 | A | C |
c.2618A>C
|
p.Gln873Pro
|
- | 3.0 |
|
B |