Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22058 | chr8 | 32595962 | C | T |
c.235C>T
|
p.Arg79Ter
|
4.0 |
|
B | ||
| 35170 | chr8 | 32605608 | G | A |
c.325G>A
|
p.Glu109Lys
|
- | 3.0 |
|
B | |
| 8781 | chr8 | 32605639 | G | A |
c.356G>A
|
p.Gly119Glu
|
3.0 |
|
B | ||
| 24370 | chr8 | 32605697 | A | G |
c.400+14A>G
|
-
|
- | 3.0 |
|
B | |
| 16759 | chr8 | 32614501 | CT | C |
c.401-4del
|
-
|
3.0 |
|
B | ||
| 10200 | chr8 | 32614532 | C | T |
c.419C>T
|
p.Pro140Leu
|
- | 3.5 |
|
B | |
| 11823 | chr8 | 32647750 | C | T |
c.502+30865C>T
|
-
|
3.0 |
|
B | ||
| 6355 | chr8 | 32647822 | A | C |
c.502+30937A>C
|
-
|
- | 3.0 |
|
B | |
| 23493 | chr8 | 32647883 | G | C |
c.502+30998G>C
|
-
|
- | 3.0 |
|
B | |
| 7429 | chr8 | 32647997 | G | A |
c.502+31112G>A
|
-
|
3.0 |
|
B | ||
| 20838 | chr8 | 32648018 | G | A |
c.502+31133G>A
|
-
|
3.5 |
|
B | ||
| 17841 | chr8 | 32648025 | T | A |
c.502+31140T>A
|
-
|
- | 3.0 |
|
B | |
| 18643 | chr8 | 32648339 | C | G |
c.502+31454C>G
|
-
|
3.0 |
|
B | ||
| 10083 | chr8 | 32722012 | C | G |
c.503-5937C>G
|
-
|
- | 3.0 |
|
B | |
| 15816 | chr8 | 32722050 | TA | T |
c.503-5891del
|
-
|
3.0 |
|
B | ||
| 33140 | chr8 | 32728009 | C | A |
c.563C>A
|
p.Thr188Asn
|
- | 3.0 |
|
B | |
| 1662 | chr8 | 32736396 | C | T |
c.633-5612C>T
|
-
|
3.0 |
|
B | ||
| 23494 | chr8 | 32742016 | C | A |
c.641C>A
|
p.Pro214His
|
- | 3.0 |
|
B | |
| 27470 | chr8 | 32742021 | T | G |
c.646T>G
|
p.Phe216Val
|
- | 3.0 |
|
B | |
| 30281 | chr8 | 32742663 | T | G |
c.700+588T>G
|
-
|
- | 3.0 |
|
B |