Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21366 | chr2 | 32406557 | G | T |
c.1477G>T
|
p.Gly493Trp
|
- | 3.0 |
|
B | |
| 33043 | chr2 | 32414763 | T | A |
c.1478-6T>A
|
-
|
- | 3.0 |
|
B | |
| 26760 | chr2 | 32414931 | C | G |
c.1640C>G
|
p.Ser547Cys
|
3.0 |
|
B | ||
| 16439 | chr2 | 32415054 | A | C |
c.1763A>C
|
p.His588Pro
|
- | 3.0 |
|
B | |
| 30903 | chr2 | 32415328 | AT | A |
c.2039del
|
p.Leu680CysfsTer6
|
- | 3.0 |
|
B | |
| 33327 | chr2 | 32415975 | C | CT |
c.2685dup
|
p.Asp896Ter
|
- | 3.0 |
|
B | |
| 20722 | chr2 | 32416013 | C | T |
c.2722C>T
|
p.Gln908Ter
|
- | 3.0 |
|
B | |
| 21926 | chr2 | 32416016 | G | A |
c.2725G>A
|
p.Gly909Arg
|
- | 3.0 |
|
B | |
| 15990 | chr2 | 32416060 | G | C |
c.2769G>C
|
p.Leu923Phe
|
- | 3.0 |
|
B | |
| 19956 | chr2 | 32433632 | C | A |
c.3249-12C>A
|
-
|
3.0 |
|
B | ||
| 28409 | chr2 | 32435552 | G | T |
c.3466G>T
|
p.Glu1156Ter
|
- | 3.0 |
|
B | |
| 13815 | chr2 | 32436036 | T | C |
c.3500-17T>C
|
-
|
3.0 |
|
B | ||
| 16542 | chr2 | 32436037 | G | A |
c.3500-16G>A
|
-
|
- | 3.0 |
|
B | |
| 30140 | chr2 | 32439528 | C | T |
c.3652C>T
|
p.Arg1218Cys
|
3.0 |
|
B | ||
| 18767 | chr2 | 32441389 | C | T |
c.3871C>T
|
p.Arg1291Trp
|
3.0 |
|
B | ||
| 31536 | chr2 | 32442070 | A | C |
c.3950A>C
|
p.Gln1317Pro
|
- | 3.0 |
|
B | |
| 15163 | chr2 | 32442102 | C | T |
c.3982C>T
|
p.His1328Tyr
|
- | 3.0 |
|
B | |
| 25412 | chr2 | 32445688 | G | A |
c.4484+20G>A
|
-
|
- | 3.0 |
|
B | |
| 19375 | chr2 | 32463322 | G | A |
c.4882G>A
|
p.Glu1628Lys
|
3.0 |
|
B | ||
| 32531 | chr2 | 32464668 | A | G |
c.5101A>G
|
p.Thr1701Ala
|
- | 3.0 |
|
B |