Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20885 | chr22 | 37977978 | C | T |
c.586G>A
|
p.Glu196Lys
|
3.0 |
|
B | ||
| 2293 | chr22 | 37978005 | C | T |
c.559G>A
|
p.Glu187Lys
|
3.0 |
|
B | ||
| 26438 | chr22 | 37978029 | T | TCCGCCAGGC |
c.534_535insGCCTGGCGG
|
p.Arg178_Lys179insAlaTrpArg
|
- | 3.0 |
|
B | |
| 10540 | chr22 | 37978064 | T | C |
c.500A>G
|
p.Asp167Gly
|
- | 3.0 |
|
B | |
| 7518 | chr22 | 37978101 | C | CT |
c.462_463insA
|
p.Glu155ArgfsTer4
|
- | 3.5 |
|
B | |
| 24430 | chr22 | 37983463 | TGGGCC | T |
c.317_321del
|
p.Arg106HisfsTer26
|
- | 3.0 |
|
B | |
| 5666 | chr22 | 37983485 | G | T |
c.300C>A
|
p.Ser100Arg
|
- | 3.0 |
|
B | |
| 34853 | chr22 | 37983533 | G | T |
c.252C>A
|
p.Asp84Glu
|
- | 3.0 |
|
B | |
| 12231 | chr22 | 38085358 | G | A |
c.1532C>T
-
|
p.Ala511Val
-
|
- | 3.0 |
|
B | |
| 34809 | chr22 | 39225734 | G | A |
c.715C>T
|
p.Leu239Phe
|
3.0 |
|
B | ||
| 7389 | chr22 | 39225758 | C | T |
c.691G>A
|
p.Asp231Asn
|
- | 3.0 |
|
B | |
| 10688 | chr22 | 39225768 | CTTGAA | C |
c.676_680del
|
p.Phe226AlafsTer4
|
- | 3.0 |
|
B | |
| 20069 | chr22 | 39230100 | AC | A |
c.584del
|
p.Gly195ValfsTer14
|
- | 3.0 |
|
B | |
| 2323 | chr22 | 39230180 | T | C |
c.505A>G
|
p.Thr169Ala
|
3.0 |
|
B | ||
| 25513 | chr22 | 39230227 | A | C |
c.458T>G
|
p.Val153Gly
|
- | 3.0 |
|
B | |
| 3965 | chr22 | 39231740 | C | T |
c.338G>A
|
p.Arg113His
|
3.0 |
|
B | ||
| 23703 | chr22 | 39233434 | C | T |
c.250+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 6396 | chr22 | 39233531 | G | A |
c.161-7C>T
|
-
|
3.0 |
|
B | ||
| 10649 | chr22 | 39235862 | G | A |
c.76C>T
|
p.Pro26Ser
|
- | 3.0 |
|
B | |
| 35461 | chr22 | 39487329 | T | G |
c.-1-18T>G
|
-
|
- | 3.0 |
|
B |