Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28657 | chr1 | 64178463 | C | A |
c.2422C>A
|
p.Pro808Thr
|
- | 3.0 |
|
B | |
| 5526 | chr1 | 64835437 | C | G |
c.3328G>C
-
|
p.Glu1110Gln
-
|
- | 3.0 |
|
B | |
| 2966 | chr1 | 64837927 | G | A |
c.3140+5C>T
-
|
-
-
|
3.0 |
|
B | ||
| 12517 | chr1 | 64837963 | C | T |
c.3109G>A
-
|
p.Val1037Ile
-
|
3.0 |
|
B | ||
| 13133 | chr1 | 64839663 | T | C |
c.2782A>G
|
p.Ile928Val
|
- | 3.0 |
|
B | |
| 17752 | chr1 | 64839666 | C | A |
c.2779G>T
|
p.Glu927Ter
|
- | 3.5 |
|
B | |
| 10444 | chr1 | 64839734 | T | C |
c.2711A>G
|
p.Gln904Arg
|
- | 3.0 |
|
B | |
| 11666 | chr1 | 64841245 | C | T |
c.2649G>A
|
p.Glu883=
|
- | 3.0 |
|
B | |
| 35206 | chr1 | 64841313 | G | GT |
c.2580dup
|
p.Pro861ThrfsTer4
|
3.5 |
|
B | ||
| 1614 | chr1 | 64841313 | GT | G |
c.2580del
|
p.Lys860AsnfsTer16
|
- | 4.0 |
|
B | |
| 30418 | chr1 | 64844103 | G | T |
c.2364C>A
|
p.Tyr788Ter
|
- | 3.5 |
|
B | |
| 34547 | chr1 | 64844742 | G | A |
c.2251+12C>T
|
-
|
3.0 |
|
B | ||
| 2854 | chr1 | 64844805 | A | G |
c.2200T>C
|
p.Phe734Leu
|
- | 3.0 |
|
B | |
| 2061 | chr1 | 64844853 | T | C |
c.2152A>G
|
p.Lys718Glu
|
- | 3.0 |
|
B | |
| 27575 | chr1 | 64845587 | G | A |
c.2041C>T
|
p.Arg681Trp
|
- | 3.0 |
|
B | |
| 26487 | chr1 | 64846703 | C | A |
c.1933G>T
|
p.Val645Phe
|
- | 3.0 |
|
B | |
| 32850 | chr1 | 64847536 | G | A |
c.1895C>T
|
p.Ser632Phe
|
- | 3.0 |
|
B | |
| 8084 | chr1 | 64847653 | G | A |
c.1778C>T
|
p.Thr593Met
|
3.0 |
|
B | ||
| 4610 | chr1 | 64855505 | G | A |
c.1648+4C>T
|
-
|
3.0 |
|
B | ||
| 19943 | chr1 | 64860149 | C | CG |
c.1289dup
|
p.Leu431ValfsTer22
|
3.5 |
|
B |