Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12173 | chr7 | 55163716 | C | T |
c.1632-17C>T
|
-
|
- | 3.0 |
|
B | |
| 9620 | chr7 | 55163767 | A | G |
c.1666A>G
|
p.Ile556Val
|
3.0 |
|
B | ||
| 20662 | chr7 | 55165261 | T | G |
c.1723-19T>G
|
-
|
- | 3.0 |
|
B | |
| 7421 | chr7 | 55165319 | G | C |
c.1762G>C
|
p.Gly588Arg
|
- | 3.0 |
|
B | |
| 21227 | chr7 | 55165322 | C | T |
c.1765C>T
|
p.Pro589Ser
|
3.0 |
|
B | ||
| 35548 | chr7 | 55165336 | G | T |
c.1779G>T
|
p.Lys593Asn
|
- | 3.0 |
|
B | |
| 625 | chr7 | 55165344 | C | T |
c.1787C>T
|
p.Pro596Leu
|
3.5 |
|
B | ||
| 313 | chr7 | 55165350 | G | C |
c.1793G>C
|
p.Gly598Ala
|
3.67 |
|
A | ||
| 312 | chr7 | 55165350 | G | T |
c.1793G>T
|
p.Gly598Val
|
4.33 |
|
A | ||
| 35550 | chr7 | 55165361 | G | C |
c.1804G>C
|
p.Glu602Gln
|
- | 3.0 |
|
B | |
| 5793 | chr7 | 55165381 | G | C |
c.1824G>C
|
p.Trp608Cys
|
- | 3.0 |
|
B | |
| 10665 | chr7 | 55165439 | T | G |
c.1880+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 30007 | chr7 | 55168525 | C | T |
c.1881-2650C>T
|
-
|
- | 3.0 |
|
B | |
| 10612 | chr7 | 55170368 | C | T |
c.1881-807C>T
|
-
|
- | 3.0 |
|
B | |
| 22741 | chr7 | 55170395 | C | G |
c.1881-780C>G
|
-
|
3.0 |
|
B | ||
| 12562 | chr7 | 55170466 | G | C |
c.1881-709G>C
|
-
|
3.0 |
|
B | ||
| 14927 | chr7 | 55170502 | G | A |
c.1881-673G>A
|
-
|
- | 3.0 |
|
B | |
| 4007 | chr7 | 55171177 | G | T |
c.1883G>T
|
p.Cys628Phe
|
- | 3.0 |
|
B | |
| 22477 | chr7 | 55171202 | T | G |
c.1908T>G
|
p.Cys636Trp
|
- | 3.0 |
|
B | |
| 3020 | chr7 | 55171211 | TG | T |
c.1919+1del
|
p.?
|
- | 3.0 |
|
B |