Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31840 | chr3 | 69936749 | C | G |
c.355-1073C>G
|
-
|
3.0 |
|
B | ||
| 11875 | chr3 | 69937811 | G | A |
c.355-11G>A
|
-
|
3.0 |
|
B | ||
| 7485 | chr3 | 69937837 | G | T |
c.370G>T
|
p.Glu124Ter
|
- | 3.5 |
|
B | |
| 6841 | chr3 | 69937874 | G | A |
c.407G>A
|
p.Arg136Gln
|
3.0 |
|
B | ||
| 11030 | chr3 | 69939164 | C | T |
c.649C>T
|
p.Arg217Ter
|
3.0 |
|
B | ||
| 14448 | chr3 | 69939194 | T | G |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 6586 | chr3 | 69949102 | C | T |
c.814C>T
|
p.Pro272Ser
|
- | 3.0 |
|
B | |
| 31396 | chr3 | 69951847 | C | G |
c.916C>G
|
p.Leu306Val
|
- | 3.0 |
|
B | |
| 21508 | chr3 | 69956487 | C | T |
c.988C>T
|
p.Arg330Cys
|
3.0 |
|
B | ||
| 3944 | chr3 | 69956498 | A | T |
c.999A>T
|
p.Glu333Asp
|
- | 3.0 |
|
B | |
| 27755 | chr3 | 69956543 | G | A |
c.1031+13G>A
|
-
|
2.0 |
|
B | ||
| 9432 | chr3 | 69959325 | C | T |
c.1084C>T
|
p.Arg362Ter
|
3.5 |
|
B | ||
| 17740 | chr3 | 69959337 | C | T |
c.1096C>T
|
p.Arg366Ter
|
3.0 |
|
B | ||
| 9528 | chr3 | 69959397 | C | T |
c.1156C>T
|
p.Arg386Trp
|
3.0 |
|
B | ||
| 32326 | chr3 | 69964976 | C | T |
c.1309C>T
|
p.Gln437Ter
|
- | 3.0 |
|
B | |
| 6026 | chr3 | 69965021 | G | T |
c.1354G>T
|
p.Asp452Tyr
|
- | 3.0 |
|
B | |
| 1064 | chr3 | 69965072 | C | G |
c.1405C>G
|
p.Gln469Glu
|
- | 3.0 |
|
B | |
| 29616 | chr3 | 70959395 | G | A |
c.1890-4C>T
|
-
|
2.0 |
|
B | ||
| 33468 | chr3 | 70966071 | G | A |
c.1723-15C>T
|
-
|
- | 3.0 |
|
B | |
| 33469 | chr3 | 70966072 | A | T |
c.1723-16T>A
|
-
|
- | 3.0 |
|
B |