Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6442 | chr3 | 10146561 | G | C |
c.388G>C
|
p.Val130Leu
|
3.5 |
|
B | ||
| 29308 | chr3 | 10146561 | GT | G |
c.390del
|
p.Asn131ThrfsTer28
|
- | 4.5 |
|
B | |
| 231 | chr3 | 10146573 | GA | G |
c.402del
|
p.Glu134AspfsTer25
|
4.67 |
|
A | ||
| 23379 | chr3 | 10146631 | T | C |
c.458T>C
|
p.Leu153Pro
|
- | 3.0 |
|
B | |
| 2829 | chr3 | 10149785 | AGT | A |
c.465_466del
|
p.Thr157SerfsTer16
|
- | 4.0 |
|
B | |
| 32671 | chr3 | 10149786 | G | A |
c.464-1G>A
|
p.?
|
4.0 |
|
B | ||
| 24808 | chr3 | 10149819 | G | T |
c.496G>T
|
p.Val166Phe
|
4.0 |
|
B | ||
| 24014 | chr3 | 10149848 | C | G |
c.525C>G
|
p.Tyr175Ter
|
4.5 |
|
B | ||
| 28722 | chr3 | 10149856 | T | C |
c.533T>C
|
p.Leu178Pro
|
4.0 |
|
B | ||
| 30843 | chr3 | 10149874 | TC | T |
c.552del
|
p.Tyr185ThrfsTer17
|
- | 4.0 |
|
B | |
| 30842 | chr3 | 10149876 | T | A |
c.553T>A
|
p.Tyr185Asn
|
2.5 |
|
B | ||
| 7958 | chr3 | 10149888 | G | A |
c.565G>A
|
p.Glu189Lys
|
3.0 |
|
B | ||
| 22642 | chr3 | 10149894 | C | T |
c.571C>T
|
p.His191Tyr
|
- | 3.0 |
|
B | |
| 3362 | chr3 | 10340539 | C | T |
c.3083G>A
|
p.Arg1028Gln
|
3.0 |
|
B | ||
| 27405 | chr3 | 12379837 | C | A |
c.126C>A
|
p.Ser42Arg
|
- | 3.0 |
|
B | |
| 17241 | chr3 | 12379907 | G | A |
c.196G>A
|
p.Asp66Asn
|
3.0 |
|
B | ||
| 29092 | chr3 | 12381423 | G | A |
c.322G>A
|
p.Glu108Lys
|
- | 3.0 |
|
B | |
| 35197 | chr3 | 12381498 | A | T |
c.390+7A>T
|
-
|
2.0 |
|
B | ||
| 18873 | chr3 | 12405939 | C | A |
c.587C>A
|
p.Ser196Tyr
|
- | 3.0 |
|
B | |
| 32363 | chr3 | 12406007 | T | C |
c.655T>C
|
p.Ser219Pro
|
- | 3.0 |
|
B |