Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30133 | chr7 | 157005654 | C | T |
c.1072G>A
|
p.Glu358Lys
|
3.0 |
|
B | ||
| 16756 | chr7 | 157005890 | G | A |
c.853-17C>T
|
-
|
- | 3.0 |
|
B | |
| 20982 | chr7 | 157009008 | G | A |
c.691+652C>T
|
-
|
- | 3.0 |
|
B | |
| 20983 | chr7 | 157009010 | C | A |
c.691+650G>T
|
-
|
- | 3.0 |
|
B | |
| 23059 | chr7 | 157010235 | GAT | G |
c.114_115del
|
p.Ser39TrpfsTer16
|
- | 3.0 |
|
B | |
| 23060 | chr7 | 157010236 | A | C |
c.115T>G
|
p.Ser39Ala
|
- | 3.0 |
|
B | |
| 34136 | chr7 | 157010237 | TGCG | T |
c.111_113del
|
p.Ala38del
|
- | 3.0 |
|
B | |
| 29405 | chr7 | 157010245 | C | CGG |
c.104_105dup
|
p.Ala36ProfsTer187
|
- | 3.0 |
|
B | |
| 30836 | chr7 | 157010329 | G | A |
c.22C>T
|
p.Arg8Cys
|
- | 3.0 |
|
B | |
| 4689 | chr7 | 157181607 | A | T |
c.706A>T
|
p.Ile236Phe
|
- | 3.0 |
|
B | |
| 4838 | chr7 | 158081339 | T | C |
c.1682A>G
|
p.Asn561Ser
|
3.0 |
|
B | ||
| 5185 | chr7 | 158741643 | G | A |
c.2048C>T
|
p.Ser683Phe
|
- | 3.0 |
|
B | |
| 18681 | chr8 | 1860017 | C | T |
c.314C>T
|
p.Pro105Leu
|
3.0 |
|
B | ||
| 22554 | chr8 | 1860056 | G | A |
c.353G>A
|
p.Gly118Asp
|
- | 3.0 |
|
B | |
| 20349 | chr8 | 1864396 | C | T |
c.505C>T
|
p.Arg169Cys
|
- | 3.0 |
|
B | |
| 14717 | chr8 | 1885691 | G | T |
c.1166G>T
|
p.Gly389Val
|
- | 3.0 |
|
B | |
| 29636 | chr8 | 1896318 | C | T |
c.1441-15C>T
|
-
|
- | 3.0 |
|
B | |
| 34961 | chr8 | 1903417 | TAGCCAA | T |
c.1793_1798del
|
p.Lys598_Ala599del
|
- | 3.0 |
|
B | |
| 28190 | chr8 | 1903434 | G | A |
c.1804G>A
|
p.Glu602Lys
|
3.0 |
|
B | ||
| 32032 | chr8 | 1905644 | A | G |
c.1895A>G
|
p.Glu632Gly
|
- | 3.0 |
|
B |