Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5600 | chr17 | 7675075 | A | T |
c.537T>A
|
p.His179Gln
|
3.5 |
|
B | ||
| 3892 | chr17 | 7675076 | T | A |
c.536A>T
|
p.His179Leu
|
3.5 |
|
B | ||
| 6144 | chr17 | 7675076 | T | C |
c.536A>G
|
p.His179Arg
|
4.0 |
|
B | ||
| 566 | chr17 | 7675077 | G | T |
c.535C>A
|
p.His179Asn
|
4.0 |
|
B | ||
| 8531 | chr17 | 7675079 | T | G |
c.533A>C
|
p.His178Pro
|
3.5 |
|
B | ||
| 1769 | chr17 | 7675079 | T | TG |
c.532dup
|
p.His178ProfsTer3
|
- | 4.0 |
|
B | |
| 33002 | chr17 | 7675079 | TG | T |
c.532del
|
p.His178ThrfsTer69
|
4.5 |
|
B | ||
| 4089 | chr17 | 7675082 | G | A |
c.530C>T
|
p.Pro177Leu
|
5.0 |
|
B | ||
| 8523 | chr17 | 7675082 | G | C |
c.530C>G
|
p.Pro177Arg
|
4.0 |
|
B | ||
| 1452 | chr17 | 7675082 | G | T |
c.530C>A
|
p.Pro177His
|
3.5 |
|
B | ||
| 14011 | chr17 | 7675084 | G | C |
c.528C>G
|
p.Cys176Trp
|
4.0 |
|
B | ||
| 493 | chr17 | 7675084 | G | T |
c.528C>A
|
p.Cys176Ter
|
- | 4.5 |
|
B | |
| 2251 | chr17 | 7675085 | C | A |
c.527G>T
|
p.Cys176Phe
|
4.0 |
|
B | ||
| 2935 | chr17 | 7675085 | C | T |
c.527G>A
|
p.Cys176Tyr
|
4.0 |
|
B | ||
| 1569 | chr17 | 7675086 | A | G |
c.526T>C
|
p.Cys176Arg
|
3.5 |
|
B | ||
| 6754 | chr17 | 7675086 | A | T |
c.526T>A
|
p.Cys176Ser
|
3.5 |
|
B | ||
| 25728 | chr17 | 7675086 | AGCG | A |
c.523_525del
|
p.Arg175del
|
- | 3.0 |
|
B | |
| 32113 | chr17 | 7675088 | C | A |
c.524G>T
|
p.Arg175Leu
|
3.5 |
|
B | ||
| 525 | chr17 | 7675088 | C | T |
c.524G>A
|
p.Arg175His
|
3.5 |
|
B | ||
| 31063 | chr17 | 7675089 | G | A |
c.523C>T
|
p.Arg175Cys
|
3.0 |
|
B |