Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32375 | chr8 | 39925242 | C | G |
c.727C>G
|
p.Leu243Val
|
- | 3.0 |
|
B | |
| 14844 | chr8 | 39925263 | G | A |
c.748G>A
|
p.Glu250Lys
|
3.0 |
|
B | ||
| 24519 | chr8 | 39925365 | G | C |
c.850G>C
|
p.Gly284Arg
|
- | 3.0 |
|
B | |
| 25058 | chr8 | 39925379 | G | A |
c.856+8G>A
|
-
|
- | 3.0 |
|
B | |
| 16500 | chr8 | 39927913 | C | T |
c.940C>T
|
p.Pro314Ser
|
3.0 |
|
B | ||
| 35280 | chr8 | 39927952 | G | C |
c.979G>C
|
p.Gly327Arg
|
- | 3.0 |
|
B | |
| 15350 | chr8 | 39928042 | C | T |
c.1069C>T
|
p.Pro357Ser
|
- | 3.0 |
|
B | |
| 15671 | chr8 | 39928063 | G | A |
c.1090G>A
|
p.Glu364Lys
|
3.0 |
|
B | ||
| 24998 | chr8 | 39928105 | G | A |
c.1132G>A
|
p.Gly378Arg
|
- | 3.0 |
|
B | |
| 30282 | chr8 | 39928106 | G | A |
c.1133G>A
|
p.Gly378Glu
|
3.0 |
|
B | ||
| 26417 | chr8 | 39949182 | C | T |
c.17C>T
|
p.Pro6Leu
|
3.0 |
|
B | ||
| 12818 | chr8 | 39949270 | G | A |
c.99+6G>A
|
-
|
- | 3.0 |
|
B | |
| 31215 | chr8 | 39963641 | G | A |
c.133G>A
|
p.Glu45Lys
|
3.0 |
|
B | ||
| 30424 | chr8 | 39979173 | C | T |
c.302C>T
|
p.Ala101Val
|
3.0 |
|
B | ||
| 22889 | chr8 | 39979187 | G | A |
c.315+1G>A
|
p.?
|
3.0 |
|
B | ||
| 12733 | chr8 | 39982712 | C | T |
c.376C>T
|
p.Pro126Ser
|
3.0 |
|
B | ||
| 20557 | chr8 | 39982780 | G | A |
c.434+10G>A
|
-
|
- | 3.0 |
|
B | |
| 25418 | chr8 | 39987867 | C | T |
c.450-4C>T
|
-
|
3.0 |
|
B | ||
| 9908 | chr8 | 39987880 | G | T |
c.459G>T
|
p.Glu153Asp
|
- | 3.0 |
|
B | |
| 9623 | chr8 | 39987903 | G | A |
c.482G>A
|
p.Gly161Glu
|
- | 3.0 |
|
B |