Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21078 | chr9 | 5466781 | G | A |
c.802G>A
|
p.Asp268Asn
|
- | 3.0 |
|
B | |
| 22499 | chr9 | 5467823 | CTA | C |
c.851-15_851-14del
|
-
|
- | 3.0 |
|
B | |
| 6620 | chr9 | 5534819 | T | G |
c.130T>G
|
p.Phe44Val
|
3.0 |
|
B | ||
| 31479 | chr9 | 5534831 | A | C |
c.142A>C
|
p.Ser48Arg
|
- | 3.0 |
|
B | |
| 23194 | chr9 | 5534961 | A | C |
c.272A>C
|
p.Gln91Pro
|
- | 3.0 |
|
B | |
| 32865 | chr9 | 5549418 | C | T |
c.445C>T
|
p.Pro149Ser
|
- | 3.0 |
|
B | |
| 10856 | chr9 | 5549422 | T | C |
c.449T>C
|
p.Leu150Pro
|
3.0 |
|
B | ||
| 12968 | chr9 | 5549451 | G | A |
c.478G>A
|
p.Val160Ile
|
3.0 |
|
B | ||
| 32785 | chr9 | 5549473 | C | A |
c.500C>A
|
p.Ser167Tyr
|
- | 3.0 |
|
B | |
| 1524 | chr9 | 5569972 | G | T |
c.*13G>T
|
-
|
- | 3.0 |
|
B | |
| 5616 | chr9 | 5919805 | T | A |
c.6191A>T
|
p.Lys2064Met
|
- | 3.0 |
|
B | |
| 18427 | chr9 | 5920390 | T | C |
c.5606A>G
|
p.Glu1869Gly
|
- | 3.0 |
|
B | |
| 8888 | chr9 | 5920491 | T | A |
c.5505A>T
|
p.Leu1835Phe
|
- | 3.0 |
|
B | |
| 25826 | chr9 | 5920549 | C | A |
c.5447G>T
|
p.Ser1816Ile
|
- | 3.0 |
|
B | |
| 20750 | chr9 | 5920615 | G | C |
c.5381C>G
|
p.Ser1794Ter
|
- | 3.0 |
|
B | |
| 7265 | chr9 | 5921070 | T | TG |
c.4925dup
|
p.Val1643SerfsTer44
|
- | 3.0 |
|
B | |
| 12660 | chr9 | 5921665 | T | A |
c.4331A>T
|
p.Tyr1444Phe
|
- | 3.0 |
|
B | |
| 28589 | chr9 | 5921770 | G | A |
c.4226C>T
|
p.Ser1409Leu
|
- | 3.0 |
|
B | |
| 28580 | chr9 | 5922451 | G | A |
c.3545C>T
|
p.Ala1182Val
|
3.0 |
|
B | ||
| 23063 | chr9 | 5922635 | C | G |
c.3361G>C
|
p.Ala1121Pro
|
- | 3.0 |
|
B |