Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34647 | chr17 | 45267113 | G | T |
c.2412C>A
|
p.Ser804=
|
- | 3.0 |
|
B | |
| 14288 | chr17 | 45267205 | G | A |
c.2327-7C>T
|
-
|
- | 3.0 |
|
B | |
| 26128 | chr17 | 45270554 | C | T |
c.1831G>A
|
p.Glu611Lys
|
3.0 |
|
B | ||
| 29338 | chr17 | 45271143 | A | G |
c.1736T>C
|
p.Val579Ala
|
- | 3.0 |
|
B | |
| 23701 | chr17 | 45271236 | G | A |
c.1658-15C>T
|
-
|
- | 3.0 |
|
B | |
| 30925 | chr17 | 45273608 | C | A |
c.1553-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 28926 | chr17 | 45273623 | G | A |
c.1553-16C>T
|
-
|
3.0 |
|
B | ||
| 26829 | chr17 | 45274448 | G | A |
c.1420+16C>T
|
-
|
3.0 |
|
B | ||
| 11236 | chr17 | 45284797 | T | G |
c.1290+15A>C
|
-
|
- | 3.0 |
|
B | |
| 12302 | chr17 | 45284889 | G | A |
c.1213C>T
|
p.Arg405Cys
|
3.0 |
|
B | ||
| 12843 | chr17 | 45286419 | G | A |
c.1152+12C>T
|
-
|
- | 2.5 |
|
B | |
| 25351 | chr17 | 45286601 | G | A |
c.982C>T
|
p.His328Tyr
|
- | 3.0 |
|
B | |
| 17512 | chr17 | 45286744 | A | T |
c.839T>A
|
p.Leu280Gln
|
- | 3.0 |
|
B | |
| 24768 | chr17 | 45286776 | G | C |
c.807C>G
|
p.Phe269Leu
|
- | 3.0 |
|
B | |
| 17593 | chr17 | 45287055 | G | A |
c.538-10C>T
|
-
|
2.5 |
|
B | ||
| 29905 | chr17 | 45290532 | C | T |
c.214G>A
|
p.Glu72Lys
|
3.0 |
|
B | ||
| 8106 | chr17 | 47122525 | C | A |
c.2311G>T
|
p.Ala771Ser
|
- | 3.0 |
|
B | |
| 21770 | chr17 | 47129533 | A | G |
c.2032-12T>C
|
-
|
- | 3.0 |
|
B | |
| 10388 | chr17 | 47137222 | C | A |
c.1843G>T
|
p.Glu615Ter
|
- | 3.0 |
|
B | |
| 6479 | chr17 | 47138829 | G | C |
c.1614C>G
|
p.Ile538Met
|
- | 3.0 |
|
B |