Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22140 | chr2 | 189791847 | C | G |
c.38C>G
|
p.Ser13Ter
|
- | 4.0 |
|
B | |
| 31851 | chr2 | 189791858 | A | T |
c.49A>T
|
p.Ile17Phe
|
- | 3.0 |
|
B | |
| 20291 | chr2 | 189805637 | GT | G |
c.316-8del
|
-
|
3.0 |
|
B | ||
| 26352 | chr2 | 189805758 | A | C |
c.418+4A>C
|
-
|
- | 3.0 |
|
B | |
| 19398 | chr2 | 189805813 | TA | T |
c.418+70del
|
-
|
3.0 |
|
B | ||
| 25326 | chr2 | 189818050 | A | G |
c.452A>G
|
p.Asn151Ser
|
3.0 |
|
B | ||
| 3220 | chr2 | 189844079 | A | C |
c.698A>C
|
p.Gln233Pro
|
- | 3.0 |
|
B | |
| 7055 | chr2 | 189854035 | G | T |
c.919G>T
|
p.Asp307Tyr
|
- | 3.0 |
|
B | |
| 11483 | chr2 | 189854096 | GATA | G |
c.966+17_966+19del
|
-
|
- | 3.0 |
|
B | |
| 9854 | chr2 | 189854324 | CAG | C |
c.1054_1055del
|
p.Asp352CysfsTer5
|
4.0 |
|
B | ||
| 33121 | chr2 | 189854668 | C | G |
c.1396C>G
|
p.Gln466Glu
|
- | 3.0 |
|
B | |
| 4802 | chr2 | 189854896 | A | C |
c.1624A>C
|
p.Asn542His
|
- | 3.0 |
|
B | |
| 4803 | chr2 | 189854899 | G | T |
c.1627G>T
|
p.Glu543Ter
|
- | 3.5 |
|
B | |
| 26444 | chr2 | 189863739 | T | G |
c.1857-4T>G
|
-
|
- | 3.0 |
|
B | |
| 14518 | chr2 | 189863860 | C | A |
c.1974C>A
|
p.Ser658Arg
|
- | 3.0 |
|
B | |
| 5557 | chr2 | 189863898 | C | T |
c.2012C>T
|
p.Ser671Leu
|
- | 3.0 |
|
B | |
| 22843 | chr2 | 189863930 | C | T |
c.2044C>T
|
p.Leu682Phe
|
- | 3.0 |
|
B | |
| 29341 | chr2 | 189864165 | G | T |
c.2279G>T
|
p.Arg760Ile
|
- | 3.0 |
|
B | |
| 9783 | chr2 | 189867841 | G | A |
c.2385G>A
|
p.Met795Ile
|
3.0 |
|
B | ||
| 27579 | chr2 | 189867842 | A | G |
c.2386A>G
|
p.Thr796Ala
|
- | 3.0 |
|
B |