Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29869 | chr3 | 71052539 | CT | C |
c.507del
|
p.Glu170SerfsTer36
|
- | 3.5 |
|
B | |
| 24865 | chr3 | 71052540 | T | G |
c.507A>C
|
p.Lys169Asn
|
- | 3.0 |
|
B | |
| 4678 | chr3 | 71052558 | ATGT | A |
c.486_488del
|
p.Gln162del
|
3.0 |
|
B | ||
| 19954 | chr3 | 71052599 | G | GT |
c.447dup
|
p.Gln150ThrfsTer20
|
4.0 |
|
B | ||
| 1222 | chr3 | 71053710 | G | A |
c.346C>T
|
p.Leu116Phe
|
- | 3.0 |
|
B | |
| 10655 | chr3 | 71112613 | G | A |
c.205C>T
|
p.Leu69Phe
|
- | 3.0 |
|
B | |
| 14866 | chr3 | 71130478 | C | T |
c.181-17841G>A
|
-
|
- | 3.0 |
|
B | |
| 29460 | chr3 | 71130589 | G | A |
c.181-17952C>T
|
-
|
3.0 |
|
B | ||
| 2248 | chr3 | 71198043 | G | C |
c.180+159C>G
|
-
|
- | 3.0 |
|
B | |
| 558 | chr3 | 71198213 | G | A |
c.169C>T
|
p.Gln57Ter
|
- | 3.5 |
|
B | |
| 11232 | chr3 | 71198252 | C | T |
c.130G>A
|
p.Val44Met
|
3.0 |
|
B | ||
| 18442 | chr3 | 71198373 | T | G |
c.9A>C
|
p.Gln3His
|
- | 3.0 |
|
B | |
| 26109 | chr3 | 72378462 | C | A |
c.578G>T
|
p.Arg193Ile
|
- | 3.5 |
|
B | |
| 28238 | chr3 | 72379291 | TA | T |
c.262del
|
p.Ter88SerfsTer131
|
- | 4.0 |
|
B | |
| 30590 | chr3 | 72379362 | G | C |
c.192C>G
|
p.Thr64=
|
- | 3.0 |
|
B | |
| 12483 | chr3 | 72446495 | C | T |
c.126+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 27432 | chr3 | 72446590 | C | A |
c.32G>T
|
p.Arg11Leu
|
- | 3.5 |
|
B | |
| 23268 | chr3 | 72750293 | TG | T |
c.1724del
|
p.Pro575GlnfsTer6
|
- | 4.0 |
|
B | |
| 11444 | chr3 | 72750307 | C | T |
c.1711G>A
|
p.Gly571Ser
|
2.5 |
|
B | ||
| 21216 | chr3 | 72750537 | G | A |
c.1481C>T
|
p.Pro494Leu
|
- | 3.0 |
|
B |