Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22084 | chr5 | 24509633 | T | A |
c.1189A>T
|
p.Ile397Phe
|
- | 3.0 |
|
B | |
| 17269 | chr5 | 24511409 | C | T |
c.920G>A
|
p.Arg307Gln
|
3.0 |
|
B | ||
| 32763 | chr5 | 24511445 | T | C |
c.884A>G
|
p.Asp295Gly
|
3.0 |
|
B | ||
| 22670 | chr5 | 24511522 | G | T |
c.815-8C>A
|
-
|
- | 3.0 |
|
B | |
| 21379 | chr5 | 24535113 | C | A |
c.813G>T
|
p.Gln271His
|
- | 3.0 |
|
B | |
| 33793 | chr5 | 24535172 | TC | T |
c.753del
|
p.Thr252GlnfsTer4
|
- | 4.0 |
|
B | |
| 22299 | chr5 | 24535259 | G | A |
c.667C>T
|
p.Pro223Ser
|
- | 3.0 |
|
B | |
| 33246 | chr5 | 24535685 | C | A |
c.646+18G>T
|
-
|
3.0 |
|
B | ||
| 34283 | chr5 | 24535695 | T | C |
c.646+8A>G
|
-
|
3.0 |
|
B | ||
| 26646 | chr5 | 24535827 | A | G |
c.527-5T>C
|
-
|
- | 3.0 |
|
B | |
| 35294 | chr5 | 24537363 | G | C |
c.526+17C>G
|
-
|
- | 3.0 |
|
B | |
| 26177 | chr5 | 24537378 | AC | A |
c.526+1del
|
p.?
|
- | 4.0 |
|
B | |
| 26178 | chr5 | 24537382 | A | T |
c.524T>A
|
p.Val175Glu
|
- | 3.0 |
|
B | |
| 17270 | chr5 | 24537398 | G | A |
c.508C>T
|
p.Pro170Ser
|
- | 3.0 |
|
B | |
| 31478 | chr5 | 24537412 | T | C |
c.494A>G
|
p.Tyr165Cys
|
3.0 |
|
B | ||
| 25993 | chr5 | 24537414 | G | C |
c.492C>G
|
p.Ile164Met
|
- | 3.0 |
|
B | |
| 22300 | chr5 | 24537601 | A | C |
c.305T>G
|
p.Phe102Cys
|
- | 3.0 |
|
B | |
| 26798 | chr5 | 24537611 | C | T |
c.295G>A
|
p.Gly99Ser
|
- | 3.0 |
|
B | |
| 28803 | chr5 | 24537617 | C | T |
c.289G>A
|
p.Gly97Arg
|
- | 3.0 |
|
B | |
| 33475 | chr5 | 24593330 | C | A |
c.161G>T
|
p.Arg54Leu
|
- | 3.0 |
|
B |