Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21356 | chr7 | 138918718 | G | A |
c.908C>T
|
p.Ser303Phe
|
- | 3.0 |
|
B | |
| 32863 | chr7 | 138918772 | G | A |
c.854C>T
|
p.Ser285Phe
|
3.0 |
|
B | ||
| 15814 | chr7 | 138918777 | TA | T |
c.848del
|
p.Leu283Ter
|
3.0 |
|
B | ||
| 29702 | chr7 | 138918857 | C | T |
c.769G>A
|
p.Ala257Thr
|
- | 3.0 |
|
B | |
| 18119 | chr7 | 138918929 | G | A |
c.697C>T
|
p.Arg233Trp
|
2.5 |
|
B | ||
| 5738 | chr7 | 139575133 | T | G |
c.3121A>C
|
p.Ser1041Arg
|
- | 3.0 |
|
B | |
| 5183 | chr7 | 139620435 | G | A |
c.1748C>T
|
p.Thr583Ile
|
- | 3.0 |
|
B | |
| 27469 | chr7 | 140726526 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 3160 | chr7 | 140734743 | G | A |
c.2155C>T
|
p.Arg719Cys
|
3.0 |
|
B | ||
| 21888 | chr7 | 140734764 | C | T |
c.2134G>A
|
p.Ala712Thr
|
3.0 |
|
B | ||
| 23623 | chr7 | 140734771 | C | A |
c.2128-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 27683 | chr7 | 140734771 | C | G |
c.2128-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 18753 | chr7 | 140739956 | GA | G |
c.1993-11del
|
-
|
2.0 |
|
B | ||
| 29635 | chr7 | 140739965 | G | A |
c.1993-19C>T
|
-
|
- | 3.0 |
|
B | |
| 10795 | chr7 | 140749385 | G | A |
c.1894C>T
|
p.Pro632Ser
|
- | 3.0 |
|
B | |
| 9504 | chr7 | 140753288 | G | A |
c.1847C>T
|
p.Ser616Phe
|
- | 3.0 |
|
B | |
| 2492 | chr7 | 140753324 | C | A |
c.1811G>T
|
p.Trp604Leu
|
- | 3.5 |
|
B | |
| 22650 | chr7 | 140753328 | G | A |
c.1807C>T
|
p.Arg603Ter
|
3.0 |
|
B | ||
| 321 | chr7 | 140753334 | T | C |
c.1801A>G
|
p.Lys601Glu
|
4.67 |
|
A | ||
| 323 | chr7 | 140753336 | A | C |
c.1799T>G
|
p.Val600Gly
|
5.0 |
|
B |