Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5571 | chr14 | 50269239 | C | A |
c.830G>T
|
p.Arg277Leu
|
- | 3.0 |
|
B | |
| 29827 | chr14 | 50283886 | A | G |
c.688T>C
|
p.Ser230Pro
|
3.0 |
|
B | ||
| 14769 | chr14 | 50283901 | C | T |
c.673G>A
|
p.Ala225Thr
|
3.0 |
|
B | ||
| 19684 | chr14 | 50294250 | CA | C |
c.409-5del
|
-
|
2.0 |
|
B | ||
| 20125 | chr14 | 50294250 | CAA | C |
c.409-6_409-5del
|
-
|
2.5 |
|
B | ||
| 16910 | chr14 | 50302886 | T | C |
c.256+16A>G
|
-
|
3.0 |
|
B | ||
| 2638 | chr14 | 50302954 | G | A |
c.204C>T
|
p.Ile68=
|
3.0 |
|
B | ||
| 19216 | chr14 | 50303021 | C | G |
c.141-4G>C
|
-
|
3.0 |
|
B | ||
| 12503 | chr14 | 50311996 | C | T |
c.140+15G>A
-
|
-
-
|
3.0 |
|
B | ||
| 31955 | chr14 | 50630019 | A | T |
c.1566+10A>T
-
|
-
-
|
2.0 |
|
B | ||
| 34543 | chr14 | 50644816 | G | T |
c.734C>A
|
p.Ser245Ter
|
- | 3.0 |
|
B | |
| 6781 | chr14 | 50644841 | G | A |
c.709C>T
|
p.Pro237Ser
|
- | 3.0 |
|
B | |
| 11863 | chr14 | 50644917 | C | T |
c.633G>A
|
p.Met211Ile
|
- | 3.0 |
|
B | |
| 18155 | chr14 | 50644922 | T | C |
c.628A>G
|
p.Thr210Ala
|
- | 3.0 |
|
B | |
| 6394 | chr14 | 50665266 | C | T |
c.448G>A
|
p.Asp150Asn
|
- | 3.0 |
|
B | |
| 20649 | chr14 | 50665301 | TTGTC | T |
c.409_412del
|
p.Asp137IlefsTer51
|
- | 3.0 |
|
B | |
| 3976 | chr14 | 50665315 | A | T |
c.399T>A
|
p.Tyr133Ter
|
- | 3.0 |
|
B | |
| 579 | chr14 | 50665401 | CTGCTAGACTTCTGG | C |
c.299_312del
|
p.Ala100GlyfsTer4
|
- | 3.0 |
|
B | |
| 4177 | chr14 | 50665532 | G | C |
c.182C>G
|
p.Ser61Ter
|
- | 3.0 |
|
B | |
| 3214 | chr14 | 50665532 | GA | G |
c.181del
|
p.Ser61GlnfsTer6
|
- | 3.0 |
|
B |