Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13729 | chr22 | 29287122 | T | A |
c.781T>A
|
p.Tyr261Asn
|
- | 3.0 |
|
B | |
| 14647 | chr22 | 29288653 | G | A |
c.841G>A
|
p.Glu281Lys
|
3.0 |
|
B | ||
| 26013 | chr22 | 29288671 | G | A |
c.859G>A
|
p.Gly287Arg
|
3.0 |
|
B | ||
| 14646 | chr22 | 29288675 | C | T |
c.863C>T
|
p.Pro288Leu
|
- | 3.0 |
|
B | |
| 20777 | chr22 | 29296249 | G | A |
c.1175G>A
|
p.Arg392Lys
|
- | 3.0 |
|
B | |
| 28621 | chr22 | 29296299 | C | G |
c.1225C>G
|
p.Pro409Ala
|
3.0 |
|
B | ||
| 15640 | chr22 | 29298772 | G | T |
c.1457G>T
|
p.Arg486Leu
|
3.0 |
|
B | ||
| 11632 | chr22 | 29298778 | G | C |
c.1463G>C
|
p.Gly488Ala
|
3.0 |
|
B | ||
| 6316 | chr22 | 29298802 | G | A |
c.1487G>A
|
p.Gly496Asp
|
- | 3.0 |
|
B | |
| 3778 | chr22 | 29298832 | G | T |
c.1517G>T
|
p.Arg506Leu
|
3.0 |
|
B | ||
| 30748 | chr22 | 29299239 | G | C |
c.1586G>C
|
p.Cys529Ser
|
- | 3.0 |
|
B | |
| 13728 | chr22 | 29299308 | T | TCG |
c.1656_1657insGC
|
p.Pro553AlafsTer74
|
- | 3.0 |
|
B | |
| 9485 | chr22 | 29299670 | C | T |
c.1750C>T
|
p.Pro584Ser
|
3.0 |
|
B | ||
| 15256 | chr22 | 29299686 | G | C |
c.1766G>C
|
p.Arg589Thr
|
- | 3.0 |
|
B | |
| 19820 | chr22 | 29299780 | GC | G |
c.1865del
|
p.Pro622LeufsTer4
|
- | 3.0 |
|
B | |
| 15001 | chr22 | 29604009 | C | T |
c.11C>T
|
p.Ala4Val
|
- | 3.0 |
|
B | |
| 7261 | chr22 | 29604028 | C | CTTCA |
c.31_34dup
|
p.Ser12IlefsTer38
|
- | 4.0 |
|
B | |
| 32114 | chr22 | 29604041 | A | T |
c.43A>T
|
p.Lys15Ter
|
4.0 |
|
B | ||
| 4198 | chr22 | 29604050 | C | T |
c.52C>T
|
p.Gln18Ter
|
- | 4.0 |
|
B | |
| 3911 | chr22 | 29604109 | C | A |
c.111C>A
|
p.Cys37Ter
|
- | 4.5 |
|
B |