Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30030 | chr22 | 36309409 | G | C |
c.1729-13C>G
|
-
|
3.0 |
|
B | ||
| 24022 | chr22 | 36312029 | TC | T |
c.1728+19del
|
-
|
- | 3.0 |
|
B | |
| 26322 | chr22 | 36312093 | G | C |
c.1684C>G
|
p.Leu562Val
|
- | 3.0 |
|
B | |
| 5724 | chr22 | 36312143 | T | G |
c.1634A>C
|
p.Lys545Thr
|
- | 3.0 |
|
B | |
| 1991 | chr22 | 36312171 | TG | T |
c.1605del
|
p.Ala537ProfsTer10
|
- | 4.0 |
|
B | |
| 29679 | chr22 | 36312189 | C | G |
c.1588G>C
|
p.Glu530Gln
|
- | 3.0 |
|
B | |
| 33871 | chr22 | 36314296 | C | T |
c.1403G>A
|
p.Cys468Tyr
|
- | 3.0 |
|
B | |
| 17725 | chr22 | 36316524 | A | G |
c.1373T>C
|
p.Ile458Thr
|
- | 3.0 |
|
B | |
| 32396 | chr22 | 36316654 | C | T |
c.1243G>A
|
p.Glu415Lys
|
3.0 |
|
B | ||
| 28142 | chr22 | 36318341 | GAA | G |
c.1109-18_1109-17del
|
-
|
- | 3.0 |
|
B | |
| 3238 | chr22 | 36319575 | C | T |
c.1073G>A
|
p.Arg358Gln
|
3.0 |
|
B | ||
| 13104 | chr22 | 36319606 | G | A |
c.1042C>T
|
p.Gln348Ter
|
- | 4.0 |
|
B | |
| 1088 | chr22 | 36320835 | G | C |
c.831C>G
|
p.Phe277Leu
|
- | 3.0 |
|
B | |
| 24380 | chr22 | 36322433 | C | G |
c.701G>C
|
p.Arg234Pro
|
- | 3.0 |
|
B | |
| 23111 | chr22 | 36322540 | C | T |
c.613-19G>A
|
-
|
2.5 |
|
B | ||
| 29927 | chr22 | 36341350 | G | A |
c.490+20C>T
|
-
|
- | 3.0 |
|
B | |
| 16862 | chr22 | 36341418 | G | A |
c.442C>T
|
p.Pro148Ser
|
- | 3.0 |
|
B | |
| 31649 | chr22 | 36348909 | T | G |
c.328A>C
|
p.Ile110Leu
|
3.0 |
|
B | ||
| 23927 | chr22 | 36348933 | T | G |
c.304A>C
|
p.Lys102Gln
|
- | 3.0 |
|
B | |
| 35038 | chr22 | 36348950 | G | T |
c.287C>A
|
p.Ser96Ter
|
- | 4.0 |
|
B |