Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4788 | chr22 | 30555564 | C | T |
c.661G>A
|
p.Asp221Asn
|
- | 3.0 |
|
B | |
| 27907 | chr22 | 31327314 | G | A |
c.1646-5C>T
|
-
|
3.0 |
|
B | ||
| 20921 | chr22 | 31342971 | G | A |
c.1272-11C>T
|
-
|
3.0 |
|
B | ||
| 18948 | chr22 | 31344528 | TCTCA | T |
c.1071_1074del
|
p.Cys357Ter
|
- | 4.0 |
|
B | |
| 14645 | chr22 | 31344630 | C | T |
c.973G>A
|
p.Asp325Asn
|
- | 3.0 |
|
B | |
| 28128 | chr22 | 31344882 | G | A |
c.721C>T
|
p.Pro241Ser
|
- | 3.0 |
|
B | |
| 13311 | chr22 | 31345218 | G | A |
c.385C>T
|
p.Arg129Cys
|
- | 3.0 |
|
B | |
| 17123 | chr22 | 32518044 | T | G |
c.1609A>C
|
p.Asn537His
|
3.0 |
|
B | ||
| 3761 | chr22 | 32802006 | C | T |
c.711+62909G>A
c.5C>T
|
-
p.Thr2Ile
|
3.0 |
|
B | ||
| 5239 | chr22 | 33006436 | C | T |
c.227G>A
|
p.Gly76Glu
|
- | 3.0 |
|
B | |
| 22214 | chr22 | 35067085 | T | G |
c.-3T>G
|
-
|
- | 3.0 |
|
B | |
| 34537 | chr22 | 35067109 | G | A |
c.22G>A
|
p.Ala8Thr
|
3.0 |
|
B | ||
| 16387 | chr22 | 35067116 | G | C |
c.29G>C
|
p.Cys10Ser
|
- | 3.0 |
|
B | |
| 21249 | chr22 | 35067220 | G | A |
c.133G>A
|
p.Asp45Asn
|
- | 3.0 |
|
B | |
| 21202 | chr22 | 35082498 | T | G |
c.230-20T>G
|
-
|
- | 3.0 |
|
B | |
| 27200 | chr22 | 35082544 | C | T |
c.256C>T
|
p.Arg86Cys
|
3.0 |
|
B | ||
| 34433 | chr22 | 35082685 | C | T |
c.381+16C>T
|
-
|
- | 3.0 |
|
B | |
| 14365 | chr22 | 35084372 | C | T |
c.382-11C>T
|
-
|
3.0 |
|
B | ||
| 20436 | chr22 | 35084376 | A | G |
c.382-7A>G
|
-
|
- | 3.0 |
|
B | |
| 33222 | chr22 | 35085556 | A | G |
c.601A>G
|
p.Ile201Val
|
- | 3.0 |
|
B |