Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7836 | chr17 | 76474404 | C | T |
c.1433G>A
-
|
p.Gly478Glu
-
|
- | 3.0 |
|
B | |
| 17594 | chr17 | 76474417 | T | C |
c.1420A>G
-
|
p.Asn474Asp
-
|
- | 3.0 |
|
B | |
| 7837 | chr17 | 76474422 | A | T |
c.1415T>A
-
|
p.Val472Asp
-
|
- | 3.0 |
|
B | |
| 27192 | chr17 | 76474550 | G | A |
c.1303-16C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 29856 | chr17 | 76474738 | G | A |
c.1294C>T
-
|
p.Pro432Ser
-
|
- | 3.0 |
|
B | |
| 840 | chr17 | 76475062 | C | T |
c.1195G>A
-
|
p.Val399Met
-
|
3.0 |
|
B | ||
| 11722 | chr17 | 76475073 | C | T |
c.1184G>A
-
|
p.Gly395Asp
-
|
- | 3.0 |
|
B | |
| 5542 | chr17 | 76476926 | T | C |
c.1019A>G
|
p.Tyr340Cys
|
- | 3.0 |
|
B | |
| 16245 | chr17 | 76476983 | C | A |
c.962G>T
|
p.Gly321Val
|
- | 3.0 |
|
B | |
| 6071 | chr17 | 76476992 | G | A |
c.953C>T
|
p.Pro318Leu
|
- | 3.0 |
|
B | |
| 11744 | chr17 | 76477234 | C | T |
c.866G>A
|
p.Arg289Gln
|
3.0 |
|
B | ||
| 30021 | chr17 | 76477707 | C | T |
c.751G>A
|
p.Glu251Lys
|
- | 3.0 |
|
B | |
| 33758 | chr17 | 76477749 | G | A |
c.709C>T
|
p.Arg237Trp
|
3.0 |
|
B | ||
| 21556 | chr17 | 76477801 | G | A |
c.673-16C>T
|
-
|
- | 3.0 |
|
B | |
| 24129 | chr17 | 76479019 | AG | A |
c.469-11del
|
-
|
- | 3.0 |
|
B | |
| 22700 | chr17 | 76479068 | C | T |
c.468+14G>A
|
-
|
3.0 |
|
B | ||
| 16116 | chr17 | 76479158 | C | A |
c.392G>T
|
p.Arg131Leu
|
- | 3.0 |
|
B | |
| 1699 | chr17 | 76479179 | C | A |
c.371G>T
|
p.Arg124Leu
|
3.0 |
|
B | ||
| 19115 | chr17 | 76479216 | G | A |
c.334C>T
|
p.Arg112Cys
|
3.0 |
|
B | ||
| 14984 | chr17 | 76479297 | A | G |
c.273-20T>C
|
-
|
- | 3.0 |
|
B |