Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20841 | chr12 | 323195 | G | A |
c.2162C>T
|
p.Pro721Leu
|
- | 3.0 |
|
B | |
| 6402 | chr12 | 323643 | G | T |
c.2107C>A
|
p.Pro703Thr
|
- | 3.0 |
|
B | |
| 2785 | chr12 | 323720 | G | A |
c.2030C>T
|
p.Ser677Leu
|
- | 3.0 |
|
B | |
| 15700 | chr12 | 334295 | G | A |
c.1436C>T
|
p.Ser479Phe
|
- | 3.0 |
|
B | |
| 21932 | chr12 | 350652 | TC | T |
c.1276del
|
p.Asp426MetfsTer20
|
- | 3.0 |
|
B | |
| 23230 | chr12 | 350789 | G | GA |
c.1150-11dup
|
-
|
3.0 |
|
B | ||
| 15829 | chr12 | 350789 | GA | G |
c.1150-11del
|
-
|
3.0 |
|
B | ||
| 11694 | chr12 | 352213 | G | T |
c.1141C>A
|
p.Pro381Thr
|
- | 3.0 |
|
B | |
| 19714 | chr12 | 354239 | TA | T |
c.871-6del
|
-
|
3.0 |
|
B | ||
| 11197 | chr12 | 355179 | T | A |
c.849A>T
|
p.Lys283Asn
|
- | 3.0 |
|
B | |
| 6801 | chr12 | 356528 | C | T |
c.682G>A
|
p.Gly228Arg
|
3.0 |
|
B | ||
| 27557 | chr12 | 388948 | G | C |
c.144C>G
|
p.Ile48Met
|
- | 3.0 |
|
B | |
| 19213 | chr12 | 388960 | C | G |
c.132G>C
|
p.Glu44Asp
|
- | 3.0 |
|
B | |
| 12614 | chr12 | 389090 | A | C |
c.2T>G
|
p.Met1?
|
3.0 |
|
B | ||
| 29506 | chr12 | 753788 | A | C |
c.223A>C
|
p.Thr75Pro
|
- | 3.0 |
|
B | |
| 25717 | chr12 | 753822 | G | T |
c.257G>T
|
p.Cys86Phe
|
- | 3.0 |
|
B | |
| 24650 | chr12 | 753863 | C | G |
c.298C>G
|
p.Leu100Val
|
- | 3.0 |
|
B | |
| 2621 | chr12 | 861034 | G | A |
c.1642G>A
|
p.Glu548Lys
|
- | 3.0 |
|
B | |
| 25686 | chr12 | 861040 | G | T |
c.1648G>T
|
p.Asp550Tyr
|
- | 3.0 |
|
B | |
| 7830 | chr12 | 861073 | A | G |
c.1681A>G
|
p.Arg561Gly
|
- | 3.0 |
|
B |