Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13966 | chr1 | 44827489 | G | A |
c.2284C>T
|
p.Arg762Cys
|
3.0 |
|
B | ||
| 20946 | chr1 | 44827561 | C | T |
c.2212G>A
|
p.Glu738Lys
|
3.0 |
|
B | ||
| 19035 | chr1 | 44827666 | C | T |
c.2107G>A
|
p.Gly703Arg
|
3.0 |
|
B | ||
| 31999 | chr1 | 44827681 | C | A |
c.2092G>T
|
p.Gly698Cys
|
- | 3.0 |
|
B | |
| 26947 | chr1 | 44827922 | G | A |
c.1979C>T
|
p.Ser660Phe
|
3.0 |
|
B | ||
| 19166 | chr1 | 44828045 | G | A |
c.1856C>T
|
p.Pro619Leu
|
3.0 |
|
B | ||
| 14907 | chr1 | 44828079 | C | A |
c.1822G>T
|
p.Ala608Ser
|
- | 3.0 |
|
B | |
| 35147 | chr1 | 44828296 | C | A |
c.1709G>T
|
p.Ser570Ile
|
- | 4.0 |
|
B | |
| 16055 | chr1 | 44828588 | A | T |
c.1508T>A
|
p.Val503Glu
|
- | 3.0 |
|
B | |
| 14574 | chr1 | 44828649 | G | A |
c.1465-18C>T
|
-
|
- | 3.0 |
|
B | |
| 7324 | chr1 | 44829016 | G | T |
c.1430C>A
|
p.Ala477Asp
|
- | 3.0 |
|
B | |
| 35527 | chr1 | 44829260 | C | T |
c.1268G>A
|
p.Gly423Asp
|
- | 3.0 |
|
B | |
| 29383 | chr1 | 44829769 | G | A |
c.936-8C>T
|
-
|
3.0 |
|
B | ||
| 31807 | chr1 | 44831791 | C | G |
c.532G>C
|
p.Glu178Gln
|
- | 3.0 |
|
B | |
| 30799 | chr1 | 44841834 | G | A |
c.265+13C>T
|
-
|
1.0 |
|
B | ||
| 24240 | chr1 | 44843869 | CTT | C |
-
|
-
|
3.0 |
|
B | ||
| 24241 | chr1 | 44843869 | CTTT | C |
-
|
-
|
- | 3.0 |
|
B | |
| 19361 | chr1 | 44941509 | CT | C |
c.450del
|
p.Ala151GlnfsTer57
|
3.0 |
|
B | ||
| 5148 | chr1 | 45003744 | G | A |
c.2430-4C>T
|
-
|
- | 3.0 |
|
B | |
| 29968 | chr1 | 45010917 | C | T |
c.341G>A
-
|
p.Gly114Asp
-
|
- | 3.0 |
|
B |