Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35148 | chr1 | 46260980 | A | T |
c.731A>T
|
p.Asp244Val
|
- | 3.0 |
|
B | |
| 23385 | chr1 | 46260985 | G | A |
c.736G>A
|
p.Gly246Arg
|
3.0 |
|
B | ||
| 5385 | chr1 | 46260989 | C | G |
c.740C>G
|
p.Ser247Cys
|
- | 3.0 |
|
B | |
| 7615 | chr1 | 46260997 | G | T |
c.748G>T
|
p.Glu250Ter
|
- | 3.5 |
|
B | |
| 22489 | chr1 | 46261026 | C | T |
c.766+11C>T
|
-
|
- | 3.0 |
|
B | |
| 25036 | chr1 | 46261284 | G | A |
c.790G>A
|
p.Ala264Thr
|
- | 3.0 |
|
B | |
| 7616 | chr1 | 46261383 | G | A |
c.889G>A
|
p.Glu297Lys
|
3.0 |
|
B | ||
| 7617 | chr1 | 46261392 | G | T |
c.891+7G>T
|
-
|
- | 3.0 |
|
B | |
| 25983 | chr1 | 46274124 | G | A |
-
c.1611-14G>A
|
-
-
|
3.0 |
|
B | ||
| 9293 | chr1 | 46274638 | C | T |
-
c.1790C>T
|
-
p.Pro597Leu
|
3.0 |
|
B | ||
| 10764 | chr1 | 46277811 | C | T |
c.*1054G>A
c.1870-6C>T
|
-
-
|
- | 3.0 |
|
B | |
| 7618 | chr1 | 46277889 | G | A |
c.*976C>T
c.1942G>A
|
-
p.Glu648Lys
|
3.0 |
|
B | ||
| 4619 | chr1 | 46405017 | T | TGAGGAAG |
c.314_315insAGGAAGG
|
p.Trp105Ter
|
- | 3.0 |
|
B | |
| 11121 | chr1 | 46717999 | C | T |
c.89G>A
|
p.Arg30His
|
3.0 |
|
B | ||
| 20780 | chr1 | 47219916 | C | A |
c.800G>T
|
p.Gly267Val
|
- | 3.0 |
|
B | |
| 18537 | chr1 | 47220028 | G | A |
c.688C>T
|
p.Arg230Cys
|
- | 3.0 |
|
B | |
| 28480 | chr1 | 47220126 | C | T |
c.590G>A
|
p.Arg197Gln
|
- | 3.0 |
|
B | |
| 14372 | chr1 | 47220150 | C | A |
c.566G>T
|
p.Arg189Leu
|
3.0 |
|
B | ||
| 29144 | chr1 | 47220153 | C | T |
c.563G>A
|
p.Arg188Gln
|
3.0 |
|
B | ||
| 14373 | chr1 | 47220175 | C | A |
c.542-1G>T
|
p.?
|
- | 3.0 |
|
B |