Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28104 | chr3 | 3153973 | T | G |
c.938A>C
-
|
p.Asp313Ala
-
|
- | 3.0 |
|
B | |
| 7003 | chr3 | 3167800 | T | C |
c.528-7A>G
|
-
|
3.0 |
|
B | ||
| 7929 | chr3 | 3174093 | G | A |
c.343C>T
|
p.Gln115Ter
|
3.5 |
|
B | ||
| 31988 | chr3 | 3174277 | T | C |
c.175-16A>G
|
-
|
- | 3.0 |
|
B | |
| 1225 | chr3 | 3175271 | T | A |
c.68-2A>T
|
p.?
|
- | 3.5 |
|
B | |
| 3566 | chr3 | 4836907 | C | T |
c.8162C>T
|
p.Ser2721Phe
|
- | 3.0 |
|
B | |
| 11207 | chr3 | 4982870 | A | C |
c.417A>C
|
p.Gln139His
|
- | 3.0 |
|
B | |
| 28629 | chr3 | 8881406 | G | A |
c.1439C>T
|
p.Ala480Val
|
3.0 |
|
B | ||
| 18209 | chr3 | 8898963 | T | G |
c.1253A>C
|
p.Glu418Ala
|
- | 3.0 |
|
B | |
| 25204 | chr3 | 8899052 | GA | G |
c.1169-6del
|
-
|
3.0 |
|
B | ||
| 11310 | chr3 | 8902512 | GT | G |
c.1035del
|
p.Lys345AsnfsTer28
|
- | 3.0 |
|
B | |
| 14140 | chr3 | 8912391 | G | A |
c.967-19C>T
|
-
|
- | 3.0 |
|
B | |
| 12712 | chr3 | 8939618 | T | C |
c.640A>G
|
p.Ser214Gly
|
3.0 |
|
B | ||
| 24294 | chr3 | 8941512 | G | A |
c.559C>T
|
p.Arg187Cys
|
3.0 |
|
B | ||
| 24516 | chr3 | 8941535 | G | GCGATCTCTT |
c.527_535dup
|
p.Glu176_Ile178dup
|
- | 3.0 |
|
B | |
| 30688 | chr3 | 8941729 | G | C |
c.342C>G
|
p.Val114=
|
- | 3.0 |
|
B | |
| 19553 | chr3 | 8948574 | C | T |
c.134-4G>A
|
-
|
3.0 |
|
B | ||
| 30761 | chr3 | 8985598 | G | A |
c.3221C>T
|
p.Ser1074Leu
|
3.0 |
|
B | ||
| 34056 | chr3 | 8985638 | G | A |
c.3181C>T
|
p.Arg1061Trp
|
3.0 |
|
B | ||
| 23038 | chr3 | 8985647 | G | A |
c.3172C>T
|
p.Arg1058Trp
|
3.0 |
|
B |