Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29960 | chr16 | 89279767 | C | T |
c.6775G>A
|
p.Glu2259Lys
|
- | 3.0 |
|
B | |
| 28362 | chr16 | 89279812 | C | T |
c.6730G>A
|
p.Val2244Ile
|
2.0 |
|
B | ||
| 30681 | chr16 | 89279979 | G | A |
c.6563C>T
|
p.Pro2188Leu
|
2.5 |
|
B | ||
| 29961 | chr16 | 89280355 | C | G |
c.6187G>C
|
p.Glu2063Gln
|
- | 3.0 |
|
B | |
| 32708 | chr16 | 89280402 | G | A |
c.6140C>T
|
p.Ala2047Val
|
3.0 |
|
B | ||
| 31929 | chr16 | 89280412 | C | A |
c.6130G>T
|
p.Val2044Phe
|
- | 3.0 |
|
B | |
| 18255 | chr16 | 89280454 | CGACGGGCAGAGCGTA | C |
c.6073_6087del
|
p.Tyr2025_Val2029del
|
- | 3.0 |
|
B | |
| 22380 | chr16 | 89280702 | G | A |
c.5840C>T
|
p.Pro1947Leu
|
- | 3.0 |
|
B | |
| 24708 | chr16 | 89280718 | C | T |
c.5824G>A
|
p.Val1942Ile
|
3.0 |
|
B | ||
| 29964 | chr16 | 89280736 | C | T |
c.5806G>A
|
p.Glu1936Lys
|
3.0 |
|
B | ||
| 34193 | chr16 | 89280831 | T | C |
c.5711A>G
|
p.Glu1904Gly
|
3.0 |
|
B | ||
| 14674 | chr16 | 89280937 | G | A |
c.5605C>T
|
p.Pro1869Ser
|
3.0 |
|
B | ||
| 12758 | chr16 | 89281027 | G | A |
c.5515C>T
|
p.Pro1839Ser
|
- | 3.0 |
|
B | |
| 33823 | chr16 | 89281126 | C | T |
c.5416G>A
|
p.Gly1806Arg
|
2.0 |
|
B | ||
| 29963 | chr16 | 89281351 | C | T |
c.5191G>A
|
p.Asp1731Asn
|
3.0 |
|
B | ||
| 15320 | chr16 | 89281435 | C | T |
c.5107G>A
|
p.Val1703Met
|
3.0 |
|
B | ||
| 27033 | chr16 | 89281657 | C | T |
c.4885G>A
|
p.Asp1629Asn
|
3.0 |
|
B | ||
| 29965 | chr16 | 89281849 | C | G |
c.4693G>C
|
p.Asp1565His
|
- | 3.0 |
|
B | |
| 15838 | chr16 | 89281875 | G | A |
c.4667C>T
|
p.Ala1556Val
|
3.0 |
|
B | ||
| 14354 | chr16 | 89281963 | C | T |
c.4579G>A
|
p.Asp1527Asn
|
2.5 |
|
B |