Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18026 | chr14 | 81139758 | T | A |
c.772T>A
|
p.Trp258Arg
|
- | 3.0 |
|
B | |
| 8905 | chr14 | 81139768 | A | G |
c.782A>G
|
p.Lys261Arg
|
- | 3.0 |
|
B | |
| 9645 | chr14 | 81139815 | C | T |
c.829C>T
|
p.Leu277Phe
|
- | 3.0 |
|
B | |
| 13750 | chr14 | 81139846 | A | C |
c.860A>C
|
p.Lys287Thr
|
- | 3.0 |
|
B | |
| 456 | chr14 | 81142986 | C | T |
c.928C>T
|
p.Arg310Cys
|
3.0 |
|
S | ||
| 26434 | chr14 | 81143050 | G | A |
c.992G>A
|
p.Gly331Asp
|
- | 3.0 |
|
B | |
| 20907 | chr14 | 81143076 | A | G |
c.1018A>G
|
p.Lys340Glu
|
- | 3.0 |
|
B | |
| 14891 | chr14 | 81143130 | G | A |
c.1072G>A
|
p.Glu358Lys
|
3.0 |
|
B | ||
| 9582 | chr14 | 81143174 | C | G |
c.1116C>G
|
p.Asn372Lys
|
- | 3.0 |
|
B | |
| 10740 | chr14 | 81143560 | C | G |
c.1502C>G
|
p.Thr501Ser
|
- | 3.0 |
|
B | |
| 29880 | chr14 | 81143634 | G | A |
c.1576G>A
|
p.Ala526Thr
|
3.0 |
|
B | ||
| 4926 | chr14 | 81143640 | C | T |
c.1582C>T
|
p.Arg528Cys
|
3.0 |
|
B | ||
| 24314 | chr14 | 81143707 | T | A |
c.1649T>A
|
p.Phe550Tyr
|
- | 3.0 |
|
B | |
| 874 | chr14 | 81143808 | G | A |
c.1750G>A
|
p.Val584Ile
|
3.0 |
|
B | ||
| 10573 | chr14 | 81143841 | G | A |
c.1783G>A
|
p.Val595Ile
|
2.0 |
|
B | ||
| 34485 | chr14 | 81143907 | G | T |
c.1849G>T
|
p.Asp617Tyr
|
- | 3.0 |
|
B | |
| 27034 | chr14 | 81143991 | C | G |
c.1933C>G
|
p.Leu645Val
|
3.0 |
|
B | ||
| 17353 | chr14 | 81144044 | G | T |
c.1986G>T
|
p.Leu662Phe
|
- | 3.0 |
|
B | |
| 9679 | chr14 | 81144067 | A | G |
c.2009A>G
|
p.Asn670Ser
|
- | 3.5 |
|
B | |
| 29408 | chr14 | 81144091 | A | G |
c.2033A>G
|
p.Tyr678Cys
|
3.0 |
|
B |