Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13706 | chr17 | 39711916 | T | G |
c.902-12T>G
|
-
|
- | 3.0 |
|
B | |
| 1457 | chr17 | 39711955 | C | T |
c.929C>T
|
p.Ser310Phe
|
4.0 |
|
B | ||
| 35249 | chr17 | 39711981 | A | G |
c.955A>G
|
p.Asn319Asp
|
- | 3.0 |
|
B | |
| 22680 | chr17 | 39715508 | C | T |
c.1285C>T
|
p.Gln429Ter
|
- | 3.0 |
|
B | |
| 27706 | chr17 | 39715834 | C | A |
c.1408C>A
|
p.His470Asn
|
- | 3.0 |
|
B | |
| 13954 | chr17 | 39715944 | G | A |
c.1513+5G>A
|
-
|
- | 3.0 |
|
B | |
| 31711 | chr17 | 39715944 | G | C |
c.1513+5G>C
|
-
|
- | 3.0 |
|
B | |
| 31712 | chr17 | 39715950 | G | T |
c.1513+11G>T
|
-
|
- | 3.0 |
|
B | |
| 14798 | chr17 | 39716286 | T | A |
c.1514-15T>A
|
-
|
- | 3.0 |
|
B | |
| 33191 | chr17 | 39716424 | T | G |
c.1637T>G
|
p.Val546Gly
|
- | 3.0 |
|
B | |
| 21633 | chr17 | 39716574 | C | T |
c.1706C>T
|
p.Pro569Leu
|
3.0 |
|
B | ||
| 20413 | chr17 | 39717309 | G | GC |
c.1738-3dup
|
-
|
1.5 |
|
B | ||
| 5839 | chr17 | 39717313 | C | T |
c.1738-7C>T
|
-
|
- | 3.0 |
|
B | |
| 1467 | chr17 | 39717444 | G | T |
c.1862G>T
|
p.Gly621Val
|
- | 3.0 |
|
B | |
| 32802 | chr17 | 39717480 | C | T |
c.1898C>T
|
p.Ser633Phe
|
3.0 |
|
B | ||
| 26127 | chr17 | 39719789 | G | T |
c.1901G>T
|
p.Cys634Phe
|
- | 3.0 |
|
B | |
| 16980 | chr17 | 39723311 | G | A |
c.1947-8G>A
|
-
|
2.0 |
|
B | ||
| 31713 | chr17 | 39723330 | C | G |
c.1958C>G
|
p.Ser653Cys
|
- | 3.0 |
|
B | |
| 11762 | chr17 | 39723369 | T | A |
c.1997T>A
|
p.Val666Asp
|
- | 3.0 |
|
B | |
| 1770 | chr17 | 39723405 | G | A |
c.2033G>A
|
p.Arg678Gln
|
4.0 |
|
B |