Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31208 | chr3 | 72750855 | A | T |
c.1182-19T>A
|
-
|
- | 3.0 |
|
B | |
| 25423 | chr3 | 72812679 | A | G |
c.1052T>C
|
p.Leu351Ser
|
- | 3.0 |
|
B | |
| 27583 | chr3 | 72812764 | A | T |
c.967T>A
|
p.Ser323Thr
|
3.0 |
|
B | ||
| 18225 | chr3 | 72812806 | C | T |
c.937-12G>A
|
-
|
- | 3.0 |
|
B | |
| 25799 | chr3 | 72824424 | C | A |
c.727G>T
|
p.Val243Leu
|
- | 3.0 |
|
B | |
| 23783 | chr3 | 72832376 | G | A |
c.592C>T
|
p.His198Tyr
|
- | 3.0 |
|
B | |
| 31261 | chr3 | 72848241 | C | G |
c.100G>C
|
p.Glu34Gln
|
- | 3.0 |
|
B | |
| 4645 | chr3 | 74298035 | C | T |
c.2323G>A
|
p.Glu775Lys
|
- | 3.0 |
|
B | |
| 31673 | chr3 | 75937540 | C | A |
c.47C>A
|
p.Ala16Asp
|
- | 3.0 |
|
B | |
| 17771 | chr3 | 75937542 | C | T |
c.49C>T
|
p.Pro17Ser
|
- | 3.0 |
|
B | |
| 22154 | chr3 | 75937569 | T | A |
c.76T>A
|
p.Phe26Ile
|
- | 3.0 |
|
B | |
| 32547 | chr3 | 75937578 | C | G |
c.85C>G
|
p.His29Asp
|
- | 3.0 |
|
B | |
| 16514 | chr3 | 76311409 | G | A |
c.109+373807G>A
|
-
|
- | 4.0 |
|
B | |
| 32893 | chr3 | 77098116 | A | T |
c.164A>T
|
p.Glu55Val
|
- | 3.0 |
|
B | |
| 26239 | chr3 | 77098184 | C | T |
c.232C>T
|
p.Pro78Ser
|
- | 3.0 |
|
B | |
| 21886 | chr3 | 77098232 | C | T |
c.280C>T
|
p.Arg94Cys
|
- | 3.0 |
|
B | |
| 20879 | chr3 | 77098299 | T | A |
c.347T>A
|
p.Leu116His
|
3.0 |
|
B | ||
| 27809 | chr3 | 77098314 | G | T |
c.362G>T
|
p.Ser121Ile
|
- | 3.0 |
|
B | |
| 28269 | chr3 | 77477543 | G | A |
c.518G>A
|
p.Arg173Gln
|
2.0 |
|
B | ||
| 35382 | chr3 | 77481190 | A | T |
c.638A>T
|
p.Asp213Val
|
- | 3.0 |
|
B |