Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11157 | chr17 | 50194016 | G | A |
c.1694C>T
|
p.Pro565Leu
|
2.5 |
|
B | ||
| 1239 | chr17 | 50194019 | C | T |
c.1691G>A
|
p.Arg564His
|
2.5 |
|
B | ||
| 11343 | chr17 | 50194037 | G | C |
c.1673C>G
|
p.Pro558Arg
|
- | 3.0 |
|
B | |
| 26307 | chr17 | 50194038 | G | A |
c.1672C>T
|
p.Pro558Ser
|
3.0 |
|
B | ||
| 29667 | chr17 | 50194047 | G | A |
c.1669-6C>T
|
-
|
- | 3.0 |
|
B | |
| 22389 | chr17 | 50194059 | G | A |
c.1669-18C>T
|
-
|
3.0 |
|
B | ||
| 23092 | chr17 | 50194168 | G | T |
c.1630C>A
|
p.Pro544Thr
|
- | 3.0 |
|
B | |
| 11077 | chr17 | 50194182 | C | A |
c.1616G>T
|
p.Gly539Val
|
- | 3.0 |
|
B | |
| 17386 | chr17 | 50194562 | G | A |
c.1515+11C>T
|
-
|
- | 3.0 |
|
B | |
| 35508 | chr17 | 50194624 | A | G |
c.1464T>C
|
p.Gly488=
|
- | 3.0 |
|
B | |
| 987 | chr17 | 50194630 | C | T |
c.1462-4G>A
|
-
|
- | 3.0 |
|
B | |
| 35137 | chr17 | 50194756 | C | T |
c.1426G>A
|
p.Gly476Arg
|
3.5 |
|
B | ||
| 12765 | chr17 | 50195109 | G | A |
c.1300-9C>T
|
-
|
2.0 |
|
B | ||
| 27270 | chr17 | 50195255 | G | A |
c.1276C>T
|
p.Pro426Ser
|
3.0 |
|
B | ||
| 14467 | chr17 | 50195309 | C | A |
c.1222G>T
|
p.Ala408Ser
|
3.0 |
|
B | ||
| 6791 | chr17 | 50195486 | A | T |
c.1156-8T>A
|
-
|
- | 3.0 |
|
B | |
| 1443 | chr17 | 50196180 | C | T |
c.977G>A
|
p.Gly326Asp
|
4.0 |
|
B | ||
| 15876 | chr17 | 50196190 | C | T |
c.967G>A
|
p.Gly323Arg
|
- | 3.0 |
|
B | |
| 10561 | chr17 | 50196384 | G | A |
c.904-17C>T
|
-
|
2.5 |
|
B | ||
| 27191 | chr17 | 50196500 | C | T |
c.887G>A
|
p.Gly296Glu
|
- | 3.0 |
|
B |