Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4747 | chr14 | 24240657 | T | G |
c.823A>C
-
|
p.Thr275Pro
-
|
- | 3.0 |
|
B | |
| 19683 | chr14 | 28768841 | GC | G |
c.*100del
|
-
|
1.0 |
|
B | ||
| 13929 | chr14 | 28768842 | C | A |
c.*93C>A
|
-
|
3.0 |
|
B | ||
| 4748 | chr14 | 30884594 | C | T |
c.671C>T
|
p.Ser224Leu
|
3.0 |
|
B | ||
| 4527 | chr14 | 30894909 | A | T |
c.*502T>A
-
|
-
-
|
3.0 |
|
B | ||
| 14419 | chr14 | 32077383 | A | G |
c.-221A>G
|
-
|
3.0 |
|
B | ||
| 27650 | chr14 | 32090986 | C | T |
c.317C>T
|
p.Pro106Leu
|
- | 3.0 |
|
B | |
| 15362 | chr14 | 32091162 | G | GT |
c.494dup
|
p.Ser166LysfsTer6
|
- | 3.0 |
|
B | |
| 33530 | chr14 | 32091238 | C | A |
c.569C>A
|
p.Ser190Ter
|
- | 3.0 |
|
B | |
| 21672 | chr14 | 32091238 | C | CA |
c.576dup
|
p.Pro193ThrfsTer8
|
3.0 |
|
B | ||
| 34802 | chr14 | 32091280 | G | A |
c.611G>A
|
p.Cys204Tyr
|
- | 3.0 |
|
B | |
| 34702 | chr14 | 32091751 | G | A |
c.1082G>A
|
p.Trp361Ter
|
- | 3.0 |
|
B | |
| 34385 | chr14 | 32092086 | G | C |
c.1417G>C
|
p.Glu473Gln
|
- | 3.0 |
|
B | |
| 33156 | chr14 | 32092110 | G | T |
c.1441G>T
|
p.Glu481Ter
|
3.5 |
|
B | ||
| 26255 | chr14 | 32092134 | G | A |
c.1465G>A
|
p.Glu489Lys
|
3.0 |
|
B | ||
| 14823 | chr14 | 32092575 | C | T |
c.1906C>T
|
p.Pro636Ser
|
- | 3.0 |
|
B | |
| 23233 | chr14 | 32092911 | CA | C |
c.2244del
|
p.Ala749LeufsTer16
|
- | 3.0 |
|
B | |
| 28573 | chr14 | 32093244 | C | T |
c.2575C>T
|
p.Arg859Trp
|
3.0 |
|
B | ||
| 26319 | chr14 | 32093296 | C | T |
c.2627C>T
|
p.Thr876Ile
|
3.0 |
|
B | ||
| 28964 | chr14 | 32093489 | G | GA |
c.2828dup
|
p.Asn943LysfsTer10
|
- | 3.0 |
|
B |