Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21237 | chr17 | 1658400 | C | T |
c.5377-19G>A
|
-
|
2.5 |
|
B | ||
| 27268 | chr17 | 1658584 | G | A |
c.5318C>T
|
p.Ser1773Phe
|
- | 3.0 |
|
B | |
| 29808 | chr17 | 1659349 | C | A |
c.5138+8G>T
|
-
|
- | 3.0 |
|
B | |
| 22937 | chr17 | 1659491 | C | T |
c.5004G>A
|
p.Trp1668Ter
|
- | 4.0 |
|
B | |
| 29873 | chr17 | 1660583 | C | T |
c.4639-5G>A
|
-
|
- | 3.0 |
|
B | |
| 16620 | chr17 | 1660981 | G | A |
c.4508+12C>T
|
-
|
3.0 |
|
B | ||
| 12456 | chr17 | 1661255 | T | A |
c.4338+16A>T
|
-
|
- | 3.0 |
|
B | |
| 13931 | chr17 | 1661268 | T | G |
c.4338+3A>C
|
-
|
- | 3.0 |
|
B | |
| 9695 | chr17 | 1661411 | C | CA |
c.4203-6dup
|
-
|
3.0 |
|
B | ||
| 28529 | chr17 | 1661668 | G | A |
c.4145C>T
|
p.Ser1382Phe
|
- | 3.0 |
|
B | |
| 27295 | chr17 | 1674571 | C | T |
c.3170G>A
|
p.Arg1057Gln
|
- | 3.0 |
|
B | |
| 35487 | chr17 | 1674620 | C | T |
c.3121G>A
|
p.Val1041Met
|
3.0 |
|
B | ||
| 8096 | chr17 | 1675148 | G | A |
c.3060+4C>T
|
-
|
3.0 |
|
B | ||
| 7592 | chr17 | 1675171 | T | C |
c.3041A>G
|
p.Asn1014Ser
|
- | 3.0 |
|
B | |
| 5856 | chr17 | 1675258 | T | C |
c.2954A>G
|
p.Tyr985Cys
|
- | 3.0 |
|
B | |
| 3714 | chr17 | 1675625 | C | T |
c.2867G>A
|
p.Cys956Tyr
|
- | 3.0 |
|
B | |
| 19761 | chr17 | 1676614 | C | T |
c.2279G>A
|
p.Arg760Gln
|
- | 3.0 |
|
B | |
| 1133 | chr17 | 1679158 | C | A |
c.1458G>T
|
p.Lys486Asn
|
- | 3.0 |
|
B | |
| 14673 | chr17 | 1679406 | G | A |
c.1294C>T
|
p.Arg432Trp
|
3.0 |
|
B | ||
| 4989 | chr17 | 1680972 | G | A |
c.949C>T
|
p.Pro317Ser
|
- | 3.0 |
|
B |