Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21154 | chr3 | 138657736 | G | A |
c.2896C>T
|
p.His966Tyr
|
- | 3.0 |
|
B | |
| 613 | chr3 | 138657748 | A | T |
c.2884T>A
|
p.Tyr962Asn
|
- | 3.0 |
|
B | |
| 30178 | chr3 | 138657807 | A | T |
c.2825T>A
|
p.Leu942His
|
- | 3.0 |
|
B | |
| 32231 | chr3 | 138663900 | G | A |
c.2796+6C>T
|
-
|
- | 3.0 |
|
B | |
| 22853 | chr3 | 138665088 | C | T |
c.2620G>A
|
p.Ala874Thr
|
- | 3.0 |
|
B | |
| 19979 | chr3 | 138665211 | GA | G |
c.2505-9del
|
-
|
3.0 |
|
B | ||
| 2711 | chr3 | 138681968 | G | A |
c.2503C>T
|
p.Arg835Trp
|
3.0 |
|
B | ||
| 11571 | chr3 | 138684772 | T | C |
c.2168A>G
|
p.Asn723Ser
|
- | 3.0 |
|
B | |
| 15083 | chr3 | 138691127 | G | C |
c.1909C>G
|
p.Gln637Glu
|
- | 3.0 |
|
B | |
| 7691 | chr3 | 138694770 | C | G |
c.1892+16G>C
|
-
|
3.0 |
|
B | ||
| 7441 | chr3 | 138694873 | G | A |
c.1805C>T
|
p.Pro602Leu
|
3.0 |
|
B | ||
| 4165 | chr3 | 138699023 | C | G |
c.1654G>C
|
p.Glu552Gln
|
- | 3.0 |
|
B | |
| 22593 | chr3 | 138699092 | G | A |
c.1585C>T
|
p.Arg529Ter
|
3.0 |
|
B | ||
| 26189 | chr3 | 138704462 | C | T |
c.1562G>A
|
p.Ser521Asn
|
3.0 |
|
B | ||
| 11637 | chr3 | 138707251 | G | A |
c.1438C>T
|
p.Gln480Ter
|
- | 3.0 |
|
B | |
| 4679 | chr3 | 138712223 | A | AGCTGTGTAATATTATGTCTCCAGTTCTCAATTGTCCTTT |
c.1345_1383dup
|
p.Lys449_Ser461dup
|
- | 3.0 |
|
B | |
| 32761 | chr3 | 138714460 | A | T |
c.1302+8T>A
|
-
|
- | 3.0 |
|
B | |
| 17858 | chr3 | 138714462 | C | T |
c.1302+6G>A
|
-
|
3.0 |
|
B | ||
| 25619 | chr3 | 138714490 | G | A |
c.1280C>T
|
p.Thr427Ile
|
- | 3.0 |
|
B | |
| 22854 | chr3 | 138714646 | C | T |
c.1124G>A
|
p.Gly375Glu
|
- | 3.0 |
|
B |