Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21289 | chr4 | 25676408 | C | T |
c.1732C>T
|
p.Arg578Cys
|
3.0 |
|
B | ||
| 26483 | chr4 | 25676446 | G | T |
c.1770G>T
|
p.Trp590Cys
|
- | 3.0 |
|
B | |
| 34763 | chr4 | 25676546 | G | A |
c.1870G>A
|
p.Val624Met
|
3.0 |
|
B | ||
| 28183 | chr4 | 25676556 | G | A |
c.1880G>A
|
p.Arg627His
|
3.0 |
|
B | ||
| 29791 | chr4 | 25676559 | C | T |
c.1883C>T
|
p.Ala628Val
|
3.0 |
|
B | ||
| 19433 | chr4 | 25676580 | G | T |
c.1904G>T
|
p.Cys635Phe
|
3.0 |
|
B | ||
| 4657 | chr4 | 25788223 | C | T |
c.2217+1G>A
|
p.?
|
3.0 |
|
B | ||
| 19434 | chr4 | 27021057 | CA | C |
c.1764-1451del
|
-
|
2.5 |
|
B | ||
| 4825 | chr4 | 36306286 | T | C |
c.1739T>C
|
p.Leu580Pro
|
- | 3.0 |
|
B | |
| 30733 | chr4 | 39406972 | G | A |
c.23G>A
|
p.Gly8Glu
|
3.0 |
|
B | ||
| 23222 | chr4 | 39406986 | G | T |
c.37G>T
|
p.Glu13Ter
|
3.0 |
|
B | ||
| 29693 | chr4 | 39407104 | G | A |
c.155G>A
|
p.Gly52Glu
|
- | 3.0 |
|
B | |
| 21218 | chr4 | 39407427 | C | T |
c.478C>T
|
p.Pro160Ser
|
- | 3.0 |
|
B | |
| 21029 | chr4 | 39407428 | C | G |
c.479C>G
|
p.Pro160Arg
|
- | 3.0 |
|
B | |
| 32846 | chr4 | 39407487 | G | C |
c.538G>C
|
p.Asp180His
|
- | 3.0 |
|
B | |
| 24596 | chr4 | 39407644 | G | A |
c.695G>A
|
p.Arg232His
|
3.0 |
|
B | ||
| 21744 | chr4 | 39407774 | G | C |
c.825G>C
|
p.Lys275Asn
|
- | 3.0 |
|
B | |
| 14150 | chr4 | 39434322 | C | T |
c.938C>T
|
p.Thr313Met
|
3.0 |
|
B | ||
| 34111 | chr4 | 39434399 | G | A |
c.1015G>A
|
p.Asp339Asn
|
1.5 |
|
B | ||
| 15652 | chr4 | 39434411 | G | A |
c.1027G>A
|
p.Gly343Arg
|
3.0 |
|
B |