Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33033 | chr14 | 34786195 | C | T |
c.1537G>A
|
p.Ala513Thr
|
- | 3.0 |
|
B | |
| 34628 | chr14 | 34801176 | A | T |
c.879T>A
|
p.Asn293Lys
|
3.0 |
|
B | ||
| 28304 | chr14 | 34826056 | C | T |
c.493G>A
|
p.Asp165Asn
|
- | 3.0 |
|
B | |
| 33857 | chr14 | 34862139 | C | T |
c.297G>A
|
p.Ser99=
|
3.0 |
|
B | ||
| 28793 | chr14 | 34862216 | CT | C |
c.219del
|
p.Ala74GlnfsTer12
|
- | 4.0 |
|
B | |
| 29026 | chr14 | 34874483 | G | T |
c.113+9C>A
|
-
|
- | 3.0 |
|
B | |
| 19738 | chr14 | 35401962 | CT | C |
c.*50del
|
-
|
3.0 |
|
B | ||
| 7334 | chr14 | 35402017 | A | G |
c.950T>C
|
p.Leu317Ser
|
- | 3.0 |
|
B | |
| 12837 | chr14 | 35402612 | G | A |
c.688C>T
|
p.Pro230Ser
|
3.0 |
|
B | ||
| 7822 | chr14 | 35403287 | GGATCACAGCCAGCTCCCAGAAGTGCCTCAGCAATTTCTGGCTGGTTGGT | G |
c.361_409del
|
p.Thr121LeufsTer27
|
- | 4.0 |
|
B | |
| 3270 | chr14 | 35534813 | C | CCG |
-
c.562_563insGC
|
-
p.Leu188ArgfsTer5
|
- | 3.0 |
|
B | |
| 3331 | chr14 | 35651842 | G | A |
c.5639C>T
|
p.Pro1880Leu
|
- | 3.0 |
|
B | |
| 3910 | chr14 | 36517378 | G | A |
c.1106C>T
|
p.Ala369Val
|
2.0 |
|
B | ||
| 6096 | chr14 | 36517437 | G | T |
c.1047C>A
|
p.His349Gln
|
3.0 |
|
B | ||
| 19332 | chr14 | 36517747 | A | G |
c.737T>C
|
p.Met246Thr
|
- | 3.0 |
|
B | |
| 7068 | chr14 | 36517826 | C | A |
c.658G>T
|
p.Glu220Ter
|
- | 3.0 |
|
B | |
| 7069 | chr14 | 36517839 | G | GTAC |
c.642_644dup
|
p.Lys214_Tyr215insTer
|
- | 3.0 |
|
B | |
| 20684 | chr14 | 36517973 | C | A |
c.511G>T
|
p.Gly171Cys
|
- | 3.0 |
|
B | |
| 29565 | chr14 | 36517986 | G | T |
c.498C>A
|
p.Asn166Lys
|
- | 3.0 |
|
B | |
| 31445 | chr14 | 36519135 | C | T |
c.313G>A
|
p.Val105Met
|
3.0 |
|
B |