Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14400 | chr2 | 188985791 | C | T |
c.447+13C>T
|
-
|
2.5 |
|
B | ||
| 31577 | chr2 | 188987046 | C | T |
c.448-13C>T
|
-
|
- | 3.0 |
|
B | |
| 4956 | chr2 | 188988130 | C | T |
c.578C>T
|
p.Ser193Phe
|
3.0 |
|
B | ||
| 15340 | chr2 | 188988614 | C | T |
c.607C>T
|
p.Pro203Ser
|
3.0 |
|
B | ||
| 13488 | chr2 | 188988635 | G | C |
c.628G>C
|
p.Gly210Arg
|
- | 3.0 |
|
B | |
| 7688 | chr2 | 188990130 | G | A |
c.725G>A
|
p.Arg242Gln
|
3.0 |
|
B | ||
| 25284 | chr2 | 188990297 | T | A |
c.745-10T>A
|
-
|
- | 3.0 |
|
B | |
| 28891 | chr2 | 188990307 | G | A |
c.745G>A
|
p.Gly249Ser
|
- | 3.0 |
|
B | |
| 5248 | chr2 | 188990317 | G | T |
c.755G>T
|
p.Gly252Val
|
3.5 |
|
B | ||
| 27111 | chr2 | 188991025 | G | A |
c.820G>A
|
p.Glu274Lys
|
- | 3.0 |
|
B | |
| 29317 | chr2 | 188991064 | C | G |
c.852+7C>G
|
-
|
- | 3.0 |
|
B | |
| 7053 | chr2 | 188991488 | G | T |
c.854G>T
|
p.Gly285Val
|
- | 3.0 |
|
B | |
| 25365 | chr2 | 188991518 | C | A |
c.884C>A
|
p.Ala295Asp
|
- | 3.0 |
|
B | |
| 11299 | chr2 | 188991679 | G | T |
c.908G>T
|
p.Gly303Val
|
- | 3.0 |
|
B | |
| 29610 | chr2 | 188992893 | C | T |
c.1003C>T
|
p.Pro335Ser
|
3.0 |
|
B | ||
| 34004 | chr2 | 188992935 | G | T |
c.1045G>T
|
p.Ala349Ser
|
- | 3.0 |
|
B | |
| 10682 | chr2 | 188994099 | C | T |
c.1194+17C>T
|
-
|
- | 3.0 |
|
B | |
| 22525 | chr2 | 188994304 | A | G |
c.1265A>G
|
p.Asn422Ser
|
3.0 |
|
B | ||
| 1664 | chr2 | 188994321 | C | T |
c.1282C>T
|
p.Arg428Ter
|
3.0 |
|
B | ||
| 33128 | chr2 | 188994325 | G | GT |
c.1287dup
|
p.Gly430TrpfsTer4
|
- | 3.0 |
|
B |