Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7660 | chr8 | 41934493 | C | A |
c.3727G>T
|
p.Asp1243Tyr
|
- | 3.0 |
|
B | |
| 26514 | chr8 | 41934508 | C | G |
c.3712G>C
|
p.Glu1238Gln
|
- | 3.0 |
|
B | |
| 34942 | chr8 | 41934510 | T | C |
c.3710A>G
|
p.Glu1237Gly
|
- | 3.0 |
|
B | |
| 26381 | chr8 | 41934535 | TCTC | T |
c.3682_3684del
|
p.Glu1228del
|
3.0 |
|
B | ||
| 11941 | chr8 | 41937274 | C | A |
c.3334G>T
|
p.Glu1112Ter
|
- | 3.0 |
|
B | |
| 10639 | chr8 | 41937367 | G | A |
c.3241C>T
|
p.Pro1081Ser
|
- | 3.0 |
|
B | |
| 13544 | chr8 | 41937571 | G | A |
c.3040-3C>T
|
-
|
- | 3.0 |
|
B | |
| 29201 | chr8 | 41940865 | T | G |
c.3016A>C
|
p.Thr1006Pro
|
- | 3.0 |
|
B | |
| 6522 | chr8 | 41940945 | G | A |
c.2936C>T
|
p.Ala979Val
|
- | 3.0 |
|
B | |
| 30135 | chr8 | 41940972 | G | A |
c.2909C>T
|
p.Pro970Leu
|
- | 3.0 |
|
B | |
| 18587 | chr8 | 41941255 | G | A |
c.2626C>T
|
p.Gln876Ter
|
- | 3.0 |
|
B | |
| 14306 | chr8 | 41941278 | C | G |
c.2603G>C
|
p.Trp868Ser
|
3.0 |
|
B | ||
| 24727 | chr8 | 41941407 | T | C |
c.2474A>G
|
p.Asp825Gly
|
- | 3.0 |
|
B | |
| 20020 | chr8 | 41942975 | GT | G |
c.2253del
|
p.Lys751AsnfsTer12
|
- | 3.0 |
|
B | |
| 20062 | chr8 | 41946607 | C | G |
c.1980G>C
|
p.Arg660Ser
|
- | 3.0 |
|
B | |
| 9297 | chr8 | 41947839 | G | A |
c.1814C>T
|
p.Thr605Ile
|
- | 3.0 |
|
B | |
| 25335 | chr8 | 41949208 | A | T |
c.1740+14T>A
|
-
|
- | 3.0 |
|
B | |
| 1321 | chr8 | 41957119 | G | A |
c.1483-1708C>T
|
-
|
3.0 |
|
B | ||
| 12819 | chr8 | 41977141 | A | C |
c.1230T>G
|
p.Ile410Met
|
- | 3.0 |
|
B | |
| 8168 | chr8 | 41977160 | T | C |
c.1211A>G
|
p.Lys404Arg
|
2.5 |
|
B |