Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14959 | chr14 | 95132578 | A | G |
c.244T>C
|
p.Ser82Pro
|
- | 3.0 |
|
B | |
| 28042 | chr14 | 95133325 | C | T |
c.134G>A
|
p.Arg45Lys
|
- | 3.0 |
|
B | |
| 4755 | chr14 | 96317312 | C | T |
c.3043G>A
|
p.Glu1015Lys
|
- | 3.0 |
|
B | |
| 28816 | chr14 | 99174217 | C | T |
c.2619G>A
|
p.Met873Ile
|
3.0 |
|
B | ||
| 15682 | chr14 | 99174267 | C | T |
c.2569G>A
|
p.Asp857Asn
|
- | 3.0 |
|
B | |
| 3694 | chr14 | 99174479 | C | G |
c.2357G>C
|
p.Arg786Pro
|
- | 3.0 |
|
B | |
| 3695 | chr14 | 99174495 | C | G |
c.2341G>C
|
p.Gly781Arg
|
3.0 |
|
B | ||
| 23364 | chr14 | 99174537 | G | A |
c.2299C>T
|
p.Arg767Cys
|
- | 3.0 |
|
B | |
| 17831 | chr14 | 99174542 | G | A |
c.2294C>T
|
p.Ser765Leu
|
3.0 |
|
B | ||
| 20128 | chr14 | 99174572 | G | A |
c.2264C>T
|
p.Pro755Leu
|
3.0 |
|
B | ||
| 32192 | chr14 | 99174934 | GCCCGCGTC | G |
c.1894_1901del
|
p.Asp632ArgfsTer250
|
- | 4.0 |
|
B | |
| 20398 | chr14 | 99175061 | G | A |
c.1775C>T
|
p.Ala592Val
|
3.0 |
|
B | ||
| 18652 | chr14 | 99175088 | G | A |
c.1748C>T
|
p.Ala583Val
|
3.0 |
|
B | ||
| 15364 | chr14 | 99175245 | C | T |
c.1591G>A
|
p.Glu531Lys
|
- | 3.0 |
|
B | |
| 17807 | chr14 | 99175308 | G | A |
c.1528C>T
|
p.Leu510Phe
|
- | 3.0 |
|
B | |
| 26821 | chr14 | 99175676 | G | A |
c.1160C>T
|
p.Pro387Leu
|
- | 3.0 |
|
B | |
| 28493 | chr14 | 99175694 | G | A |
c.1142C>T
|
p.Ser381Phe
|
- | 3.0 |
|
B | |
| 33657 | chr14 | 99175778 | G | A |
c.1058C>T
|
p.Pro353Leu
|
- | 3.0 |
|
B | |
| 35444 | chr14 | 99175938 | G | A |
c.898C>T
|
p.Arg300Trp
|
- | 3.0 |
|
B | |
| 32823 | chr14 | 99176016 | C | T |
c.820G>A
|
p.Val274Met
|
2.0 |
|
B |