Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30333 | chr9 | 8507299 | A | T |
c.1677+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 31217 | chr9 | 8507303 | C | T |
c.1675G>A
|
p.Glu559Lys
|
- | 3.0 |
|
B | |
| 23216 | chr9 | 8507309 | C | A |
c.1669G>T
|
p.Gly557Ter
|
- | 4.0 |
|
B | |
| 34067 | chr9 | 8507336 | C | A |
c.1642G>T
|
p.Glu548Ter
|
- | 4.0 |
|
B | |
| 14337 | chr9 | 8507454 | G | A |
c.1544-20C>T
|
-
|
3.0 |
|
B | ||
| 18588 | chr9 | 8517828 | C | T |
c.1543+20G>A
|
-
|
3.0 |
|
B | ||
| 34962 | chr9 | 8517835 | C | T |
c.1543+13G>A
|
-
|
- | 3.0 |
|
B | |
| 29159 | chr9 | 8517847 | C | A |
c.1543+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 29160 | chr9 | 8517848 | C | A |
c.1543G>T
|
p.Val515Leu
|
- | 3.5 |
|
B | |
| 31493 | chr9 | 8517910 | G | T |
c.1481C>A
|
p.Ala494Asp
|
- | 3.0 |
|
B | |
| 25159 | chr9 | 8517925 | G | A |
c.1466C>T
|
p.Ser489Phe
|
- | 3.0 |
|
B | |
| 31280 | chr9 | 8517985 | T | C |
c.1406A>G
|
p.His469Arg
|
3.0 |
|
B | ||
| 35686 | chr9 | 8517999 | G | T |
c.1392C>A
|
p.Asn464Lys
|
3.0 |
|
B | ||
| 12735 | chr9 | 8518072 | T | G |
c.1319A>C
|
p.Glu440Ala
|
- | 3.0 |
|
B | |
| 4585 | chr9 | 8518073 | C | T |
c.1318G>A
|
p.Glu440Lys
|
3.0 |
|
B | ||
| 16928 | chr9 | 8518091 | T | C |
c.1300A>G
|
p.Ile434Val
|
3.0 |
|
B | ||
| 4206 | chr9 | 8518175 | C | T |
c.1216G>A
|
p.Glu406Lys
|
3.0 |
|
B | ||
| 1878 | chr9 | 8518231 | G | A |
c.1160C>T
|
p.Ser387Leu
|
3.0 |
|
B | ||
| 15462 | chr9 | 8518261 | C | A |
c.1130G>T
|
p.Arg377Leu
|
- | 3.0 |
|
B | |
| 31320 | chr9 | 8518262 | G | A |
c.1129C>T
|
p.Arg377Cys
|
3.0 |
|
B |