Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27061 | chr5 | 180621755 | C | T |
c.1807G>A
|
p.Gly603Arg
|
3.0 |
|
B | ||
| 18783 | chr5 | 180621851 | C | A |
c.1711G>T
|
p.Gly571Cys
|
- | 3.0 |
|
B | |
| 34585 | chr5 | 180622848 | G | A |
c.1549-9C>T
|
-
|
- | 3.0 |
|
B | |
| 29018 | chr5 | 180623919 | C | T |
c.1548+16G>A
|
-
|
3.0 |
|
B | ||
| 23817 | chr5 | 180623958 | C | T |
c.1525G>A
|
p.Glu509Lys
|
3.0 |
|
B | ||
| 10976 | chr5 | 180624003 | T | C |
c.1480A>G
|
p.Thr494Ala
|
1.0 |
|
B | ||
| 11975 | chr5 | 180624023 | C | T |
c.1460G>A
|
p.Arg487His
|
3.0 |
|
B | ||
| 23845 | chr5 | 180625942 | C | G |
c.1348G>C
|
p.Val450Leu
|
- | 3.0 |
|
B | |
| 7716 | chr5 | 180625977 | T | C |
c.1313A>G
|
p.His438Arg
|
- | 3.0 |
|
B | |
| 26226 | chr5 | 180625980 | C | T |
c.1310G>A
|
p.Arg437His
|
3.0 |
|
B | ||
| 12163 | chr5 | 180625998 | G | A |
c.1292C>T
|
p.Ser431Phe
|
3.0 |
|
B | ||
| 2573 | chr5 | 180626236 | C | T |
c.1133G>A
|
p.Arg378His
|
2.5 |
|
B | ||
| 3931 | chr5 | 180629291 | C | T |
c.953G>A
|
p.Arg318Gln
|
3.0 |
|
B | ||
| 25028 | chr5 | 180629346 | C | T |
c.898G>A
|
p.Val300Ile
|
3.0 |
|
B | ||
| 24685 | chr5 | 180629397 | G | A |
c.847C>T
|
p.Arg283Cys
|
3.0 |
|
B | ||
| 24837 | chr5 | 180629420 | CG | C |
c.823del
|
p.Arg275GlyfsTer21
|
- | 3.0 |
|
B | |
| 28118 | chr5 | 180629433 | C | T |
c.817-6G>A
|
-
|
3.0 |
|
B | ||
| 32328 | chr5 | 180629434 | G | A |
c.817-7C>T
|
-
|
3.0 |
|
B | ||
| 7332 | chr5 | 180629796 | G | A |
c.716C>T
|
p.Ser239Leu
|
3.0 |
|
B | ||
| 18298 | chr5 | 180630000 | C | T |
c.619G>A
|
p.Glu207Lys
|
3.0 |
|
B |