Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24621 | chr16 | 55489665 | G | T |
c.1021G>T
|
p.Gly341Cys
|
- | 3.0 |
|
B | |
| 879 | chr16 | 55489675 | C | T |
c.1031C>T
|
p.Ser344Leu
|
- | 3.0 |
|
B | |
| 3260 | chr16 | 55489740 | G | A |
c.1096G>A
|
p.Ala366Thr
|
3.0 |
|
B | ||
| 14819 | chr16 | 55489791 | G | A |
c.1147G>A
|
p.Asp383Asn
|
- | 3.0 |
|
B | |
| 26362 | chr16 | 55489794 | G | A |
c.1150G>A
|
p.Asp384Asn
|
3.0 |
|
B | ||
| 18166 | chr16 | 55491786 | C | T |
c.1181-15C>T
|
-
|
- | 3.0 |
|
B | |
| 25723 | chr16 | 55491830 | G | A |
c.1210G>A
|
p.Glu404Lys
|
3.0 |
|
B | ||
| 26857 | chr16 | 55491916 | T | TAC |
c.1296_1297insAC
|
p.Leu433ThrfsTer66
|
- | 3.0 |
|
B | |
| 17678 | chr16 | 55491950 | C | G |
c.1330C>G
|
p.Leu444Val
|
- | 3.0 |
|
B | |
| 33505 | chr16 | 55493145 | G | A |
c.1337-13G>A
|
-
|
3.0 |
|
B | ||
| 11457 | chr16 | 55496961 | C | A |
c.1508C>A
|
p.Pro503His
|
- | 3.0 |
|
B | |
| 30345 | chr16 | 55497055 | C | A |
c.1602C>A
|
p.Phe534Leu
|
- | 3.0 |
|
B | |
| 23637 | chr16 | 55498302 | G | C |
c.1623G>C
|
p.Trp541Cys
|
- | 3.0 |
|
B | |
| 4573 | chr16 | 55498348 | A | G |
c.1669A>G
|
p.Thr557Ala
|
- | 3.0 |
|
B | |
| 29956 | chr16 | 55502794 | G | C |
c.1785G>C
|
p.Lys595Asn
|
- | 3.0 |
|
B | |
| 2141 | chr16 | 55502866 | C | G |
c.1857C>G
|
p.Ala619=
|
- | 3.0 |
|
B | |
| 10228 | chr16 | 55502886 | G | A |
c.1877G>A
|
p.Gly626Asp
|
3.0 |
|
B | ||
| 25926 | chr16 | 55502887 | C | T |
c.1878C>T
|
p.Gly626=
|
3.0 |
|
B | ||
| 31927 | chr16 | 55505319 | C | A |
c.1880-20C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 29427 | chr16 | 55505357 | A | C |
c.1898A>C
-
|
p.Lys633Thr
-
|
3.0 |
|
B |