Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2995 | chr10 | 128112447 | T | G |
c.1657-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 32801 | chr10 | 128112453 | G | T |
c.1657-8C>A
|
-
|
- | 3.0 |
|
B | |
| 13442 | chr10 | 128113604 | T | G |
c.1481-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 3212 | chr10 | 128114931 | T | C |
c.1477A>G
|
p.Ile493Val
|
3.0 |
|
B | ||
| 18758 | chr10 | 128115104 | G | A |
c.1304C>T
|
p.Thr435Met
|
3.0 |
|
B | ||
| 29586 | chr10 | 128115137 | C | T |
c.1271G>A
|
p.Gly424Glu
|
- | 3.0 |
|
B | |
| 15419 | chr10 | 128115336 | G | A |
c.1072C>T
|
p.Pro358Ser
|
3.0 |
|
B | ||
| 6927 | chr10 | 128115441 | C | T |
c.967G>A
|
p.Val323Met
|
2.5 |
|
B | ||
| 7065 | chr10 | 128115480 | C | G |
c.928G>C
|
p.Glu310Gln
|
- | 3.0 |
|
B | |
| 22198 | chr10 | 128115495 | C | G |
c.913G>C
|
p.Glu305Gln
|
- | 3.0 |
|
B | |
| 21902 | chr10 | 128115504 | C | T |
c.904G>A
|
p.Ala302Thr
|
3.0 |
|
B | ||
| 27822 | chr10 | 128115839 | C | T |
c.569G>A
|
p.Arg190His
|
3.0 |
|
B | ||
| 35475 | chr10 | 128125616 | G | A |
c.52C>T
|
p.Pro18Ser
|
- | 3.0 |
|
B | |
| 3479 | chr10 | 129759319 | G | A |
c.392G>A
|
p.Gly131Glu
|
3.0 |
|
B | ||
| 4719 | chr10 | 130079898 | G | A |
c.73C>T
|
p.Arg25Trp
|
3.0 |
|
B | ||
| 3537 | chr10 | 132198872 | C | T |
c.712C>T
|
p.Arg238Ter
|
3.0 |
|
B | ||
| 3480 | chr10 | 132710359 | C | T |
c.550C>T
|
p.His184Tyr
|
- | 3.0 |
|
B | |
| 5192 | chr11 | 213347 | G | A |
c.1404G>A
-
|
p.Met468Ile
-
|
- | 3.0 |
|
B | |
| 5193 | chr11 | 213348 | G | A |
c.1405G>A
-
|
p.Glu469Lys
-
|
- | 3.0 |
|
B | |
| 7153 | chr11 | 532715 | C | T |
-
c.491G>A
|
-
p.Arg164Gln
|
3.0 |
|
B |