Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9451 | chr6 | 32215280 | G | A |
c.1967C>T
|
p.Pro656Leu
|
- | 3.0 |
|
B | |
| 28071 | chr6 | 32215374 | C | T |
c.1873G>A
|
p.Glu625Lys
|
3.0 |
|
B | ||
| 10701 | chr6 | 32216939 | G | T |
c.1861+6C>A
|
-
|
- | 3.0 |
|
B | |
| 27467 | chr6 | 32217016 | G | A |
c.1790C>T
|
p.Pro597Leu
|
3.0 |
|
B | ||
| 11558 | chr6 | 32217078 | G | T |
c.1739-11C>A
|
-
|
- | 3.0 |
|
B | |
| 13034 | chr6 | 32217276 | C | T |
c.1625-10G>A
|
-
|
3.0 |
|
B | ||
| 32233 | chr6 | 32219754 | C | T |
c.1348G>A
|
p.Gly450Ser
|
3.0 |
|
B | ||
| 14858 | chr6 | 32220397 | C | T |
c.1159+8G>A
|
-
|
3.0 |
|
B | ||
| 10828 | chr6 | 32220410 | C | T |
c.1154G>A
|
p.Arg385His
|
3.0 |
|
B | ||
| 34416 | chr6 | 32220422 | C | T |
c.1142G>A
|
p.Cys381Tyr
|
3.0 |
|
B | ||
| 5558 | chr6 | 32220519 | C | T |
c.1045G>A
|
p.Gly349Ser
|
3.0 |
|
B | ||
| 27775 | chr6 | 32220866 | G | A |
c.812C>T
|
p.Pro271Leu
|
3.0 |
|
B | ||
| 12722 | chr6 | 32220879 | C | T |
c.800-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 22528 | chr6 | 32220976 | A | G |
c.799+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 27143 | chr6 | 32221059 | G | A |
c.718C>T
|
p.Pro240Ser
|
3.0 |
|
B | ||
| 13690 | chr6 | 32221305 | C | T |
c.472G>A
|
p.Asp158Asn
|
3.0 |
|
B | ||
| 17131 | chr6 | 32221341 | G | A |
c.452-16C>T
|
-
|
- | 3.0 |
|
B | |
| 27000 | chr6 | 32222493 | G | T |
c.451+18C>A
|
-
|
- | 3.0 |
|
B | |
| 12717 | chr6 | 32222592 | G | A |
c.370C>T
|
p.Pro124Ser
|
- | 3.0 |
|
B | |
| 22529 | chr6 | 32845683 | G | C |
c.2143C>G
-
|
p.Leu715Val
-
|
- | 3.0 |
|
B |