Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27330 | chr17 | 50196604 | G | T |
c.858+13C>A
|
-
|
- | 3.0 |
|
B | |
| 14667 | chr17 | 50197000 | G | A |
c.804+10C>T
|
-
|
3.0 |
|
B | ||
| 26345 | chr17 | 50197171 | C | T |
c.750+9G>A
|
-
|
- | 3.0 |
|
B | |
| 29588 | chr17 | 50197236 | G | A |
c.697-3C>T
|
-
|
3.0 |
|
B | ||
| 18336 | chr17 | 50197998 | G | A |
c.593C>T
|
p.Pro198Leu
|
3.0 |
|
B | ||
| 35459 | chr17 | 50198482 | T | G |
c.494A>C
|
p.Tyr165Ser
|
- | 3.0 |
|
B | |
| 1053 | chr17 | 50199255 | C | T |
c.442G>A
|
p.Gly148Arg
|
- | 3.0 |
|
B | |
| 27439 | chr17 | 50199274 | G | A |
c.423C>T
|
p.Pro141=
|
3.0 |
|
B | ||
| 10646 | chr17 | 50199333 | G | A |
c.370-6C>T
|
-
|
- | 3.0 |
|
B | |
| 21635 | chr17 | 50199334 | G | A |
c.370-7C>T
|
-
|
2.5 |
|
B | ||
| 2754 | chr17 | 50199344 | C | T |
c.370-17G>A
|
-
|
2.5 |
|
B | ||
| 29761 | chr17 | 50199732 | AGGCCCCG | A |
c.298+14_298+20del
|
-
|
- | 3.0 |
|
B | |
| 29258 | chr17 | 50199735 | C | T |
c.298+18G>A
|
-
|
- | 2.0 |
|
B | |
| 33715 | chr17 | 50199752 | C | T |
c.298+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 33293 | chr17 | 50199902 | C | G |
c.149G>C
|
p.Arg50Pro
|
3.0 |
|
B | ||
| 12470 | chr17 | 50201520 | A | G |
c.-7T>C
|
-
|
- | 2.5 |
|
B | |
| 18531 | chr17 | 50201521 | C | G |
c.-8G>C
|
-
|
- | 2.5 |
|
B | |
| 18532 | chr17 | 50201522 | C | T |
c.-9G>A
|
-
|
- | 2.5 |
|
B | |
| 3721 | chr17 | 50354583 | G | A |
c.804G>A
|
p.Lys268=
|
3.0 |
|
B | ||
| 3452 | chr17 | 50518649 | C | T |
c.577C>T
|
p.Pro193Ser
|
3.0 |
|
B |