Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15900 | chr5 | 168454027 | A | G |
c.2585A>G
|
p.Glu862Gly
|
3.0 |
|
B | ||
| 4492 | chr5 | 170718805 | G | A |
c.109G>A
|
p.Glu37Lys
|
3.0 |
|
B | ||
| 1472 | chr5 | 171390137 | A | C |
c.138+7A>C
|
-
|
- | 3.0 |
|
B | |
| 25497 | chr5 | 171391334 | G | C |
c.168G>C
|
p.Glu56Asp
|
- | 3.0 |
|
B | |
| 33547 | chr5 | 171392794 | G | T |
c.437G>T
|
p.Gly146Val
|
- | 3.0 |
|
B | |
| 35213 | chr5 | 171392820 | G | A |
c.459+4G>A
|
-
|
- | 3.0 |
|
B | |
| 21970 | chr5 | 171392949 | CGATGATGATGAAGAG | C |
c.511_524+1del
|
p.?
|
3.5 |
|
B | ||
| 19461 | chr5 | 171405293 | CT | C |
c.670-4del
|
-
|
- | 3.0 |
|
B | |
| 4306 | chr5 | 171405302 | G | A |
c.670G>A
|
p.Gly224Arg
|
- | 3.0 |
|
B | |
| 6270 | chr5 | 171405354 | CTAGTTCTG | C |
c.726_733del
|
p.Ser242ArgfsTer4
|
- | 4.0 |
|
B | |
| 14483 | chr5 | 171407762 | G | A |
c.834G>A
|
p.Met278Ile
|
3.0 |
|
B | ||
| 14484 | chr5 | 171407784 | T | A |
c.846+10T>A
|
-
|
- | 3.0 |
|
B | |
| 25734 | chr5 | 171410509 | C | CT |
c.847-5dup
|
-
|
2.0 |
|
B | ||
| 19996 | chr5 | 171410509 | CTT | C |
c.847-6_847-5del
|
-
|
2.5 |
|
B | ||
| 20006 | chr5 | 171410509 | CTTT | C |
c.847-7_847-5del
|
-
|
3.0 |
|
B | ||
| 12628 | chr5 | 173080782 | C | T |
c.7C>T
|
p.Gln3Ter
|
- | 3.0 |
|
B | |
| 28953 | chr5 | 173090343 | C | A |
c.164C>A
|
p.Pro55His
|
- | 3.0 |
|
B | |
| 30827 | chr5 | 173090452 | G | A |
c.273G>A
|
p.Trp91Ter
|
- | 3.0 |
|
B | |
| 13839 | chr5 | 173090663 | A | C |
c.484A>C
|
p.Ser162Arg
|
- | 3.0 |
|
B | |
| 17276 | chr5 | 173090820 | T | A |
c.641T>A
|
p.Met214Lys
|
- | 3.0 |
|
B |