Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13198 | chr17 | 8888441 | G | A |
c.1346C>T
|
p.Thr449Met
|
3.0 |
|
B | ||
| 29513 | chr17 | 8888809 | C | T |
c.978G>A
|
p.Glu326=
|
- | 3.0 |
|
B | |
| 18169 | chr17 | 8890006 | C | T |
c.778G>A
|
p.Val260Met
|
- | 3.0 |
|
B | |
| 23907 | chr17 | 8890072 | C | A |
c.712G>T
|
p.Glu238Ter
|
- | 3.0 |
|
B | |
| 23908 | chr17 | 8890073 | C | A |
c.711G>T
|
p.Gln237His
|
- | 3.0 |
|
B | |
| 12352 | chr17 | 8890764 | C | T |
-
|
-
|
-
|
3.0 |
|
B | |
| 23529 | chr17 | 8890825 | G | T |
c.570C>A
|
p.His190Gln
|
- | 3.0 |
|
B | |
| 23884 | chr17 | 8890870 | G | C |
c.525C>G
|
p.Phe175Leu
|
- | 3.0 |
|
B | |
| 22633 | chr17 | 8890932 | G | A |
c.483-20C>T
|
-
|
- | 3.0 |
|
B | |
| 30910 | chr17 | 8893588 | G | A |
c.480C>T
|
p.Thr160=
|
3.0 |
|
B | ||
| 16244 | chr17 | 8893592 | G | T |
c.476C>A
|
p.Ser159Tyr
|
- | 3.0 |
|
B | |
| 7278 | chr17 | 8893638 | GTC | G |
c.428_429del
|
p.Arg143ThrfsTer5
|
- | 3.0 |
|
B | |
| 17461 | chr17 | 8904785 | T | A |
c.404A>T
|
p.Lys135Met
|
- | 3.0 |
|
B | |
| 9567 | chr17 | 8904893 | G | T |
c.296C>A
|
p.Ser99Ter
|
- | 3.0 |
|
B | |
| 27188 | chr17 | 8904904 | G | T |
c.285C>A
|
p.Phe95Leu
|
- | 3.0 |
|
B | |
| 34810 | chr17 | 8909188 | G | A |
c.104-14C>T
|
-
|
- | 3.0 |
|
B | |
| 3715 | chr17 | 10333074 | C | T |
c.2174G>A
|
p.Arg725Gln
|
3.0 |
|
B | ||
| 5746 | chr17 | 10501826 | G | A |
c.3197C>T
|
p.Ala1066Val
|
3.0 |
|
B | ||
| 3333 | chr17 | 10526642 | C | T |
c.4144G>A
|
p.Glu1382Lys
|
3.0 |
|
B | ||
| 30866 | chr17 | 12020911 | G | GCC |
c.25_26insCC
|
p.Gly9AlafsTer17
|
- | 3.5 |
|
B |