Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2037 | chr2 | 29233701 | A | G |
c.2356-5T>C
|
-
|
- | 3.0 |
|
B | |
| 28782 | chr2 | 29239769 | C | T |
c.2266G>A
|
p.Gly756Ser
|
3.0 |
|
B | ||
| 8882 | chr2 | 29239778 | G | A |
c.2257C>T
|
p.Arg753Trp
|
3.0 |
|
B | ||
| 2177 | chr2 | 29239829 | T | C |
c.2206A>G
|
p.Ile736Val
|
3.0 |
|
B | ||
| 30073 | chr2 | 29251228 | T | G |
c.2081A>C
|
p.His694Pro
|
- | 3.0 |
|
B | |
| 12085 | chr2 | 29251263 | A | C |
c.2046T>G
|
p.His682Gln
|
- | 3.0 |
|
B | |
| 13831 | chr2 | 29275185 | G | T |
c.1955C>A
|
p.Ser652Ter
|
- | 3.0 |
|
B | |
| 26350 | chr2 | 29275216 | C | A |
c.1924G>T
|
p.Asp642Tyr
|
- | 3.0 |
|
B | |
| 8046 | chr2 | 29275222 | C | T |
c.1918G>A
|
p.Gly640Arg
|
2.5 |
|
B | ||
| 34126 | chr2 | 29296868 | G | A |
c.1817+20C>T
|
-
|
- | 2.0 |
|
B | |
| 4741 | chr2 | 29296909 | G | C |
c.1796C>G
|
p.Pro599Arg
|
- | 3.0 |
|
B | |
| 9038 | chr2 | 29296979 | C | T |
c.1726G>A
|
p.Glu576Lys
|
- | 3.0 |
|
B | |
| 18054 | chr2 | 29297020 | C | T |
c.1685G>A
|
p.Gly562Glu
|
- | 3.0 |
|
B | |
| 25282 | chr2 | 29297073 | G | A |
c.1648-16C>T
|
-
|
- | 3.0 |
|
B | |
| 11352 | chr2 | 29318304 | C | A |
c.1647G>T
|
p.Glu549Asp
|
- | 3.0 |
|
B | |
| 28946 | chr2 | 29318327 | G | A |
c.1624C>T
|
p.Pro542Ser
|
- | 3.0 |
|
B | |
| 35152 | chr2 | 29318399 | C | A |
c.1552G>T
|
p.Ala518Ser
|
- | 2.5 |
|
B | |
| 6779 | chr2 | 29318405 | C | G |
c.1547-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 15646 | chr2 | 29318416 | G | A |
c.1547-12C>T
|
-
|
- | 3.0 |
|
B | |
| 18508 | chr2 | 29320743 | A | G |
c.1546+8T>C
|
-
|
- | 2.0 |
|
B |