Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30068 | chr1 | 201087868 | C | T |
c.962G>A
|
p.Gly321Glu
|
- | 3.0 |
|
B | |
| 29597 | chr1 | 201087913 | C | T |
c.917G>A
|
p.Gly306Glu
|
3.0 |
|
B | ||
| 24641 | chr1 | 201089410 | A | C |
c.748T>G
|
p.Ser250Ala
|
3.0 |
|
B | ||
| 25012 | chr1 | 201089423 | G | T |
c.735C>A
|
p.Cys245Ter
|
3.0 |
|
B | ||
| 33197 | chr1 | 201089476 | G | A |
c.695-13C>T
|
-
|
3.0 |
|
B | ||
| 16543 | chr1 | 201091784 | C | CCTGCCTGCCT |
c.549_550insAGGCAGGCAG
|
p.Val184ArgfsTer60
|
- | 3.0 |
|
B | |
| 13083 | chr1 | 201092028 | T | A |
c.485A>T
|
p.Lys162Met
|
- | 3.0 |
|
B | |
| 18765 | chr1 | 201110262 | C | T |
c.160G>A
-
|
p.Glu54Lys
-
|
- | 3.0 |
|
B | |
| 24213 | chr1 | 201112203 | C | A |
c.137G>T
-
|
p.Ser46Ile
-
|
- | 3.0 |
|
B | |
| 33808 | chr1 | 201114811 | A | G |
-
c.562T>C
|
-
p.Ser188Pro
|
- | 3.0 |
|
B | |
| 24214 | chr1 | 201361272 | G | A |
c.810+7C>T
|
-
|
2.5 |
|
B | ||
| 23977 | chr1 | 201363277 | C | A |
c.600+19G>T
|
-
|
- | 3.0 |
|
B | |
| 13579 | chr1 | 201364354 | C | T |
c.433G>A
|
p.Ala145Thr
|
- | 3.0 |
|
B | |
| 9544 | chr1 | 201364365 | C | A |
c.422G>T
|
p.Arg141Leu
|
- | 3.0 |
|
B | |
| 34753 | chr1 | 201365321 | G | A |
c.295-14C>T
|
-
|
2.0 |
|
B | ||
| 16942 | chr1 | 201365681 | GAGGAAT | G |
c.234-17_234-12del
|
-
|
- | 3.0 |
|
B | |
| 25598 | chr1 | 201366829 | C | T |
c.233+9G>A
|
-
|
- | 2.0 |
|
B | |
| 24435 | chr1 | 201367790 | CTCT | C |
c.177_179del
|
p.Glu61del
|
3.0 |
|
B | ||
| 30400 | chr1 | 201378119 | C | T |
-
-
|
-
-
|
3.0 |
|
B | ||
| 3356 | chr1 | 201383169 | A | C |
c.1291T>G
|
p.Leu431Val
|
- | 3.0 |
|
B |