Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19966 | chr2 | 178799553 | G | A |
c.848C>T
|
p.Pro283Leu
|
3.0 |
|
B | ||
| 26071 | chr2 | 178799706 | C | T |
c.695G>A
|
p.Arg232Lys
|
- | 3.0 |
|
B | |
| 22842 | chr2 | 178799725 | C | T |
c.676G>A
|
p.Glu226Lys
|
- | 3.0 |
|
B | |
| 12155 | chr2 | 178799851 | C | T |
c.643G>A
|
p.Glu215Lys
|
- | 3.0 |
|
B | |
| 22571 | chr2 | 178799868 | G | A |
c.626C>T
|
p.Ser209Leu
|
3.0 |
|
B | ||
| 30274 | chr2 | 178799922 | G | A |
c.584-12C>T
|
-
|
- | 3.0 |
|
B | |
| 33165 | chr2 | 178800401 | C | T |
c.577G>A
|
p.Val193Ile
|
3.0 |
|
B | ||
| 32891 | chr2 | 178800434 | C | T |
c.544G>A
|
p.Val182Ile
|
3.0 |
|
B | ||
| 15132 | chr2 | 178800454 | G | A |
c.524C>T
|
p.Ser175Leu
|
- | 3.0 |
|
B | |
| 32183 | chr2 | 178800529 | A | G |
c.449T>C
|
p.Phe150Ser
|
- | 3.0 |
|
B | |
| 16461 | chr2 | 178800545 | G | T |
c.433C>A
|
p.Gln145Lys
|
- | 3.0 |
|
B | |
| 28331 | chr2 | 178800653 | G | A |
c.325C>T
|
p.Arg109Ter
|
3.0 |
|
B | ||
| 14447 | chr2 | 178800699 | A | C |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 18074 | chr2 | 178802125 | C | T |
c.295+13G>A
|
-
|
- | 3.0 |
|
B | |
| 31256 | chr2 | 178802153 | C | A |
c.280G>T
|
p.Glu94Ter
|
- | 3.0 |
|
B | |
| 22590 | chr2 | 178802176 | G | T |
c.257C>A
|
p.Ser86Tyr
|
3.0 |
|
B | ||
| 26064 | chr2 | 178802232 | G | A |
c.201C>T
|
p.Ile67=
|
- | 3.0 |
|
B | |
| 17157 | chr2 | 178802248 | C | T |
c.185G>A
|
p.Arg62His
|
2.0 |
|
B | ||
| 8293 | chr2 | 178804543 | T | G |
c.91+9A>C
|
-
|
- | 3.0 |
|
B | |
| 28627 | chr2 | 178804567 | C | T |
c.76G>A
|
p.Glu26Lys
|
- | 3.0 |
|
B |