Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9080 | chr14 | 22976709 | C | T |
c.1112G>A
|
p.Arg371Gln
|
3.0 |
|
B | ||
| 13406 | chr14 | 22978368 | G | A |
c.1084C>T
|
p.Gln362Ter
|
- | 4.0 |
|
B | |
| 15904 | chr14 | 22978447 | TGAGAA | T |
c.1007-7_1007-3del
|
-
|
3.0 |
|
B | ||
| 8652 | chr14 | 22981274 | C | CCTGG |
-
c.989_992dup
|
-
p.Arg331SerfsTer59
|
- | 4.0 |
|
B | |
| 15905 | chr14 | 22981336 | CCT | C |
-
c.929_930del
|
-
p.Glu310GlyfsTer78
|
- | 3.5 |
|
B | |
| 20758 | chr14 | 22981479 | G | C |
-
c.788C>G
|
-
p.Ser263Cys
|
- | 3.0 |
|
B | |
| 29800 | chr14 | 22981510 | C | A |
-
c.757G>T
|
-
p.Glu253Ter
|
- | 3.5 |
|
B | |
| 29801 | chr14 | 22981533 | C | G |
-
c.734G>C
|
-
p.Gly245Ala
|
- | 3.0 |
|
B | |
| 9864 | chr14 | 22981620 | GCGTACAAT | G |
-
c.639_646del
|
-
p.Leu214SerfsTer89
|
- | 3.5 |
|
B | |
| 20394 | chr14 | 22981640 | G | A |
-
c.627C>T
|
-
p.Ala209=
|
- | 3.0 |
|
B | |
| 17975 | chr14 | 22981720 | G | A |
-
c.547C>T
|
-
p.Leu183=
|
- | 3.0 |
|
B | |
| 24762 | chr14 | 22981733 | TG | T |
-
c.533del
|
-
p.Pro178GlnfsTer64
|
- | 3.5 |
|
B | |
| 24483 | chr14 | 22981986 | G | A |
-
c.281C>T
|
-
p.Pro94Leu
|
- | 3.0 |
|
B | |
| 11106 | chr14 | 22982220 | C | T |
-
c.47G>A
|
-
p.Gly16Asp
|
- | 3.0 |
|
B | |
| 26342 | chr14 | 22982228 | C | T |
-
c.39G>A
|
-
p.Glu13=
|
- | 3.0 |
|
B | |
| 9139 | chr14 | 23275636 | T | C |
c.1592A>G
-
|
p.Glu531Gly
-
|
- | 3.0 |
|
B | |
| 22772 | chr14 | 23308064 | C | T |
c.297C>T
|
p.Phe99=
|
3.0 |
|
B | ||
| 32833 | chr14 | 23308101 | A | G |
c.334A>G
|
p.Asn112Asp
|
- | 3.0 |
|
B | |
| 31847 | chr14 | 23308846 | G | A |
c.463G>A
|
p.Ala155Thr
|
3.0 |
|
B | ||
| 1970 | chr14 | 23308952 | T | G |
c.569T>G
|
p.Phe190Cys
|
- | 3.0 |
|
B |