Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5262 | chr8 | 131039579 | G | A |
c.755C>T
|
p.Ala252Val
|
- | 3.0 |
|
B | |
| 3666 | chr8 | 132172611 | G | A |
c.1127C>T
|
p.Ala376Val
|
- | 3.0 |
|
B | |
| 24564 | chr8 | 133238907 | C | T |
c.1156G>A
|
p.Gly386Arg
|
3.0 |
|
B | ||
| 25225 | chr8 | 133238975 | C | T |
c.1088G>A
|
p.Arg363His
|
3.0 |
|
B | ||
| 24100 | chr8 | 133239113 | G | A |
c.950C>T
|
p.Ser317Leu
|
3.0 |
|
B | ||
| 32915 | chr8 | 133242073 | G | A |
c.893C>T
|
p.Pro298Leu
|
3.0 |
|
B | ||
| 35655 | chr8 | 133246676 | G | A |
c.808-13C>T
|
-
|
2.0 |
|
B | ||
| 18966 | chr8 | 133247928 | TG | T |
c.756-3del
|
-
|
- | 3.0 |
|
B | |
| 12862 | chr8 | 133248725 | CTG | C |
c.743_744del
|
p.Thr248SerfsTer55
|
4.0 |
|
B | ||
| 9907 | chr8 | 133250540 | C | A |
c.598G>T
|
p.Glu200Ter
|
- | 4.0 |
|
B | |
| 29940 | chr8 | 133250548 | A | G |
c.595-5T>C
|
-
|
2.0 |
|
B | ||
| 21291 | chr8 | 133256815 | G | A |
c.499C>T
|
p.Pro167Ser
|
- | 3.0 |
|
B | |
| 13845 | chr8 | 133258406 | A | T |
c.410T>A
|
p.Met137Lys
|
- | 3.0 |
|
B | |
| 20064 | chr8 | 133259159 | C | T |
c.389+9G>A
|
-
|
2.0 |
|
B | ||
| 14843 | chr8 | 133284235 | A | G |
c.63+14T>C
|
-
|
- | 3.0 |
|
B | |
| 24179 | chr8 | 133284304 | C | T |
c.8G>A
|
p.Arg3Gln
|
3.0 |
|
B | ||
| 15352 | chr8 | 138132634 | C | T |
c.4180G>A
|
p.Glu1394Lys
|
- | 3.0 |
|
B | |
| 23894 | chr8 | 138132719 | G | T |
c.4095C>A
|
p.Asn1365Lys
|
- | 3.0 |
|
B | |
| 17310 | chr8 | 138132751 | C | T |
c.4063G>A
|
p.Glu1355Lys
|
- | 3.0 |
|
B | |
| 21402 | chr8 | 138132792 | A | C |
c.4022T>G
|
p.Val1341Gly
|
- | 3.0 |
|
B |