Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11521 | chr2 | 189873480 | A | T |
c.2474-16A>T
|
-
|
3.0 |
|
B | ||
| 7269 | chr2 | 189873507 | A | T |
c.2485A>T
|
p.Thr829Ser
|
- | 3.0 |
|
B | |
| 8854 | chr2 | 189873522 | G | A |
c.2500G>A
|
p.Glu834Lys
|
- | 3.5 |
|
B | |
| 10954 | chr2 | 189873642 | A | T |
c.2620A>T
|
p.Ile874Leu
|
3.0 |
|
B | ||
| 27966 | chr2 | 189877272 | G | GGA |
c.2638_2639dup
|
p.Ala881LysfsTer25
|
- | 3.5 |
|
B | |
| 4820 | chr2 | 190252157 | A | G |
c.663+5T>C
|
-
|
- | 3.0 |
|
B | |
| 4821 | chr2 | 190252162 | C | T |
c.663G>A
|
p.Lys221=
|
- | 3.0 |
|
B | |
| 11206 | chr2 | 190975891 | G | C |
c.2060-4C>G
|
-
|
- | 3.0 |
|
B | |
| 30586 | chr2 | 191031519 | G | A |
c.2045-3C>T
|
-
|
- | 3.0 |
|
B | |
| 23834 | chr2 | 191031520 | G | A |
c.2045-4C>T
|
-
|
3.0 |
|
B | ||
| 930 | chr2 | 191033014 | G | A |
c.1988C>T
|
p.Pro663Leu
|
- | 3.0 |
|
B | |
| 15929 | chr2 | 191033074 | C | T |
c.1928G>A
|
p.Arg643Gln
|
3.0 |
|
B | ||
| 27681 | chr2 | 191033493 | T | C |
c.1849A>G
|
p.Ser617Gly
|
- | 3.0 |
|
B | |
| 23248 | chr2 | 191033592 | G | A |
c.1750C>T
|
p.Arg584Trp
|
3.0 |
|
B | ||
| 5029 | chr2 | 191036212 | G | A |
c.1522C>T
|
p.Arg508Cys
|
3.0 |
|
B | ||
| 4069 | chr2 | 191036219 | G | A |
c.1515C>T
|
p.Tyr505=
|
2.0 |
|
B | ||
| 5289 | chr2 | 191036271 | G | A |
c.1463C>T
|
p.Pro488Leu
|
3.0 |
|
B | ||
| 7370 | chr2 | 191036318 | G | A |
c.1435-19C>T
|
-
|
3.0 |
|
B | ||
| 9845 | chr2 | 191054520 | C | T |
c.1221G>A
|
p.Met407Ile
|
- | 3.0 |
|
B | |
| 9846 | chr2 | 191054525 | C | A |
c.1216G>T
|
p.Glu406Ter
|
- | 3.0 |
|
B |