Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2569 | chr1 | 204446056 | C | T |
c.2578G>A
|
p.Ala860Thr
|
3.0 |
|
B | ||
| 34218 | chr1 | 204446106 | C | T |
c.2528G>A
|
p.Arg843Gln
|
3.0 |
|
B | ||
| 24436 | chr1 | 204447423 | GC | G |
c.2489+12del
|
-
|
- | 3.0 |
|
B | |
| 4426 | chr1 | 204447435 | C | T |
c.2489+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 11384 | chr1 | 204447597 | G | A |
c.2347-19C>T
|
-
|
3.0 |
|
B | ||
| 6851 | chr1 | 204449262 | A | T |
c.2269T>A
|
p.Trp757Arg
|
- | 3.0 |
|
B | |
| 26786 | chr1 | 204449936 | T | TG |
c.2147dup
|
p.Pro717ThrfsTer9
|
- | 3.0 |
|
B | |
| 1430 | chr1 | 204449966 | A | T |
c.2118T>A
|
p.Cys706Ter
|
- | 3.0 |
|
B | |
| 12369 | chr1 | 204455970 | G | A |
c.1829C>T
|
p.Thr610Met
|
3.0 |
|
B | ||
| 24035 | chr1 | 204460551 | G | A |
c.1421C>T
|
p.Thr474Met
|
3.0 |
|
B | ||
| 2666 | chr1 | 204464051 | A | C |
c.1271T>G
|
p.Phe424Cys
|
- | 3.0 |
|
B | |
| 15458 | chr1 | 204464443 | A | G |
c.1189+7T>C
|
-
|
- | 3.0 |
|
B | |
| 34169 | chr1 | 204465312 | G | A |
c.941C>T
|
p.Ser314Phe
|
3.0 |
|
B | ||
| 8747 | chr1 | 204468947 | G | A |
c.856C>T
|
p.Pro286Ser
|
- | 3.0 |
|
B | |
| 30950 | chr1 | 204469108 | T | C |
c.695A>G
|
p.Asn232Ser
|
3.0 |
|
B | ||
| 25789 | chr1 | 204469166 | C | A |
c.637G>T
|
p.Val213Leu
|
- | 3.0 |
|
B | |
| 25790 | chr1 | 204469187 | G | C |
c.616C>G
|
p.Arg206Gly
|
- | 3.0 |
|
B | |
| 3971 | chr1 | 204469647 | G | A |
c.156C>T
|
p.Asn52=
|
2.0 |
|
B | ||
| 34551 | chr1 | 204469777 | T | C |
c.26A>G
|
p.Glu9Gly
|
- | 3.0 |
|
B | |
| 27608 | chr1 | 204525573 | A | T |
c.55A>T
|
p.Ile19Phe
|
- | 3.0 |
|
B |