Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1593 | chr22 | 41117348 | C | T |
c.256C>T
|
p.Arg86Ter
|
4.5 |
|
B | ||
| 23349 | chr22 | 41117361 | C | T |
c.269C>T
|
p.Ser90Phe
|
- | 3.0 |
|
B | |
| 27083 | chr22 | 41117433 | G | T |
c.341G>T
|
p.Gly114Val
|
- | 3.0 |
|
B | |
| 31709 | chr22 | 41125905 | TACTC | T |
c.773_776del
|
p.Thr258ArgfsTer58
|
- | 4.0 |
|
B | |
| 22418 | chr22 | 41125990 | C | T |
c.856C>T
|
p.Pro286Ser
|
- | 3.0 |
|
B | |
| 3081 | chr22 | 41130004 | G | A |
c.1282+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 20437 | chr22 | 41135891 | C | T |
c.1607C>T
|
p.Ala536Val
|
- | 3.0 |
|
B | |
| 18972 | chr22 | 41137657 | A | G |
c.1627A>G
|
p.Met543Val
|
2.5 |
|
B | ||
| 17601 | chr22 | 41137718 | C | T |
c.1688C>T
|
p.Ser563Phe
|
- | 3.0 |
|
B | |
| 23824 | chr22 | 41146824 | G | A |
c.2131+8G>A
|
-
|
- | 3.0 |
|
B | |
| 22519 | chr22 | 41149035 | C | A |
c.2242-3C>A
|
-
|
2.5 |
|
B | ||
| 29767 | chr22 | 41149068 | C | T |
c.2272C>T
|
p.Pro758Ser
|
3.0 |
|
B | ||
| 18619 | chr22 | 41149137 | C | T |
c.2341C>T
|
p.Pro781Ser
|
3.0 |
|
B | ||
| 22977 | chr22 | 41149785 | C | T |
c.2404C>T
|
p.Pro802Ser
|
- | 3.0 |
|
B | |
| 16009 | chr22 | 41149918 | C | A |
c.2537C>A
|
p.Pro846His
|
- | 3.0 |
|
B | |
| 8949 | chr22 | 41151998 | G | T |
c.2983G>T
|
p.Glu995Ter
|
4.5 |
|
B | ||
| 8950 | chr22 | 41152229 | G | A |
c.3021G>A
|
p.Met1007Ile
|
- | 3.0 |
|
B | |
| 15856 | chr22 | 41154980 | CT | C |
c.3143-4del
|
-
|
2.5 |
|
B | ||
| 33223 | chr22 | 41155015 | C | T |
c.3163C>T
|
p.Arg1055Ter
|
5.0 |
|
B | ||
| 11423 | chr22 | 41157205 | TC | T |
c.3299del
|
p.Ser1100LeufsTer7
|
- | 4.0 |
|
B |